id string | task_type string | pipeline string | difficulty string | num_hops int64 | question string | context string | reasoning_chain dict | answer string | choices list | modalities list | modality_data list | evidence list | metadata unknown | path_confidence_score float64 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
co_mech_00201 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000051.4(ATM):c.6331_6332del (p.His2111fs) affects the Resistance of ERBB2 KD mutants to afatinib pathway, citing each molecular step. | NM_000051.4(ATM):c.6331_6332del (p.His2111fs) VARIANT_IN_GENE ATM -> ATM GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_PARTICIPATES_IN_PATHWAY Resistance of ERBB2 KD mutants to afatinib | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000051.4(ATM):c.6331_6332del (p.His2111fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000051.4(ATM):c.6331_6332del (p.His2111fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_conf... | NM_000051.4(ATM):c.6331_6332del (p.His2111fs) VARIANT_IN_GENE ATM -> ATM GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_PARTICIPATES_IN_PATHWAY Resistance of ERBB2 KD mutants to afatinib | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "ATM",
"source_db": "UniProt",
"payload": {
"accession": "Q13315",
"sequence": "MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSKQGKYLNWDAVFRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSLVKYFIKCANRRAPRLKCQELLNYIMDTVKDSSNGA... | [
{
"source_db": "ClinVar",
"source_id": "ATM",
"text": "NM_000051.4(ATM):c.6331_6332del (p.His2111fs) VARIANT_IN_GENE ATM",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0005524",
"text": "ATM GENE_ANNOTATED_WITH_GO_TERM ATP binding",
"confidence": 0.6
},
{
"sou... | {
"variant": "NM_000051.4(ATM):c.6331_6332del (p.His2111fs)",
"pathway": "Resistance of ERBB2 KD mutants to afatinib"
} | 0.774597 |
co_mech_00202 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) affects the Transcriptional regulation of granulopoiesis pathway, citing each molecular step. | NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) VARIANT_IN_GENE BRAF -> BRAF GENE_ANNOTATED_WITH_GO_TERM MAPK cascade -> MYC GENE_ANNOTATED_WITH_GO_TERM MAPK cascade -> MYC GENE_PARTICIPATES_IN_PATHWAY Transcriptional regulation of granulopoiesis | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)",
"source_node_type": "VARIANT",
"source_node_label": "NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) VARIANT_IN_GENE BRAF -> BRAF GENE_ANNOTATED_WITH_GO_TERM MAPK cascade -> MYC GENE_ANNOTATED_WITH_GO_TERM MAPK cascade -> MYC GENE_PARTICIPATES_IN_PATHWAY Transcriptional regulation of granulopoiesis | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRAF",
"source_db": "UniProt",
"payload": {
"accession": "P15056",
"sequence": "MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEHIEALLDKFGGEHNPPSIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTVTSSSSSSLSVLPSS... | [
{
"source_db": "ClinVar",
"source_id": "BRAF",
"text": "NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) VARIANT_IN_GENE BRAF",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0000165",
"text": "BRAF GENE_ANNOTATED_WITH_GO_TERM MAPK cascade",
"confidence": 0.6
},
{
"sou... | {
"variant": "NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)",
"pathway": "Transcriptional regulation of granulopoiesis"
} | 0.774597 |
co_mech_00203 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_006231.4(POLE):c.3406del (p.Arg1136fs) affects the Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway, citing each molecular step. | NM_006231.4(POLE):c.3406del (p.Arg1136fs) VARIANT_IN_GENE POLE -> POLE GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> AR GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> AR PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH CTNNB1 -> CTNNB1 GENE_PARTICIPATES_IN_PATHWAY Synthesis, secretion, and inactivation of Glucagon-like Peptide-... | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_006231.4(POLE):c.3406del (p.Arg1136fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_006231.4(POLE):c.3406del (p.Arg1136fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_006231.4(POLE):c.3406del (p.Arg1136fs) VARIANT_IN_GENE POLE -> POLE GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> AR GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> AR PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH CTNNB1 -> CTNNB1 GENE_PARTICIPATES_IN_PATHWAY Synthesis, secretion, and inactivation of Glucagon-like Peptide-... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "POLE",
"source_db": "UniProt",
"payload": {
"accession": "Q07864",
"sequence": "MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKTGWLINMHPTEILDEDKRLGSAVDYYFIQDDGSRFKVALPYKPYFYIATRKGCEREVSSFLSKKFQGKIAKVETV... | [
{
"source_db": "ClinVar",
"source_id": "POLE",
"text": "NM_006231.4(POLE):c.3406del (p.Arg1136fs) VARIANT_IN_GENE POLE",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0008270",
"text": "POLE GENE_ANNOTATED_WITH_GO_TERM zinc ion binding",
"confidence": 0.6
},
{
... | {
"variant": "NM_006231.4(POLE):c.3406del (p.Arg1136fs)",
"pathway": "Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)"
} | 0.81454 |
co_mech_00204 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000038.6(APC):c.4761_4762del (p.Ser1588fs) affects the Resistance of ERBB2 KD mutants to sapitinib pathway, citing each molecular step. | NM_000038.6(APC):c.4761_4762del (p.Ser1588fs) VARIANT_IN_GENE APC -> APC GENE_ANNOTATED_WITH_GO_TERM regulation of microtubule-based process -> ERBB2 GENE_ANNOTATED_WITH_GO_TERM regulation of microtubule-based process -> ERBB2 GENE_PARTICIPATES_IN_PATHWAY Resistance of ERBB2 KD mutants to sapitinib | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000038.6(APC):c.4761_4762del (p.Ser1588fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000038.6(APC):c.4761_4762del (p.Ser1588fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_conf... | NM_000038.6(APC):c.4761_4762del (p.Ser1588fs) VARIANT_IN_GENE APC -> APC GENE_ANNOTATED_WITH_GO_TERM regulation of microtubule-based process -> ERBB2 GENE_ANNOTATED_WITH_GO_TERM regulation of microtubule-based process -> ERBB2 GENE_PARTICIPATES_IN_PATHWAY Resistance of ERBB2 KD mutants to sapitinib | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "APC",
"source_db": "UniProt",
"payload": {
"accession": "P25054",
"sequence": "MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAMASSGQIDLLERLKELNLDSSNFPGVKLRSKMSLRSYGSREGSVSSRSGECSPVPMGSFPRRGFVNGSRESTGYLE... | [
{
"source_db": "ClinVar",
"source_id": "APC",
"text": "NM_000038.6(APC):c.4761_4762del (p.Ser1588fs) VARIANT_IN_GENE APC",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0032886",
"text": "APC GENE_ANNOTATED_WITH_GO_TERM regulation of microtubule-based process",
"confid... | {
"variant": "NM_000038.6(APC):c.4761_4762del (p.Ser1588fs)",
"pathway": "Resistance of ERBB2 KD mutants to sapitinib"
} | 0.774597 |
co_mech_00205 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000465.4(BARD1):c.490C>T (p.Gln164Ter) affects the RHO GTPases activate IQGAPs pathway, citing each molecular step. | NM_000465.4(BARD1):c.490C>T (p.Gln164Ter) VARIANT_IN_GENE BARD1 -> BARD1 GENE_ANNOTATED_WITH_GO_TERM kinase binding -> CTNNB1 GENE_ANNOTATED_WITH_GO_TERM kinase binding -> CTNNB1 GENE_PARTICIPATES_IN_PATHWAY RHO GTPases activate IQGAPs | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000465.4(BARD1):c.490C>T (p.Gln164Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000465.4(BARD1):c.490C>T (p.Gln164Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_000465.4(BARD1):c.490C>T (p.Gln164Ter) VARIANT_IN_GENE BARD1 -> BARD1 GENE_ANNOTATED_WITH_GO_TERM kinase binding -> CTNNB1 GENE_ANNOTATED_WITH_GO_TERM kinase binding -> CTNNB1 GENE_PARTICIPATES_IN_PATHWAY RHO GTPases activate IQGAPs | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BARD1",
"source_db": "UniProt",
"payload": {
"accession": "Q99728",
"sequence": "MPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLEKLLRCSRCTNILREPVCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLDSMIQLCSKLRNLLHDNELSDLKEDKPRKSLF... | [
{
"source_db": "ClinVar",
"source_id": "BARD1",
"text": "NM_000465.4(BARD1):c.490C>T (p.Gln164Ter) VARIANT_IN_GENE BARD1",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0019900",
"text": "BARD1 GENE_ANNOTATED_WITH_GO_TERM kinase binding",
"confidence": 0.6
},
{
... | {
"variant": "NM_000465.4(BARD1):c.490C>T (p.Gln164Ter)",
"pathway": "RHO GTPases activate IQGAPs"
} | 0.774597 |
co_mech_00206 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) affects the SARS-CoV-1 activates/modulates innate immune responses pathway, citing each molecular step. | NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) VARIANT_IN_GENE PALB2 -> PALB2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH RAD51C -> RAD51C GENE_ANNOTATED_WITH_GO_TERM ATP binding -> TBK1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> TBK1 GENE_PARTICIPATES_IN_PATHWAY SARS-CoV-1 activates/modulates innate immune responses | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence... | NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) VARIANT_IN_GENE PALB2 -> PALB2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH RAD51C -> RAD51C GENE_ANNOTATED_WITH_GO_TERM ATP binding -> TBK1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> TBK1 GENE_PARTICIPATES_IN_PATHWAY SARS-CoV-1 activates/modulates innate immune responses | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PALB2",
"source_db": "UniProt",
"payload": {
"accession": "Q86YC2",
"sequence": "MDEPPGKPLSCEEKEKLKEKLAFLKREYSKTLARLQRAQRAEKIKHSIKKTVEEQDCLSQQDLSPQLKHSEPKNKICVYDKLHIKTHLDEETGEKTSITLDVGPESFNPGDGPGGLPIQRTDDTQEHFPHRVS... | [
{
"source_db": "ClinVar",
"source_id": "PALB2",
"text": "NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) VARIANT_IN_GENE PALB2",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "RAD51C",
"text": "PALB2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH RAD51C",
"confidence": 0.999
},
{... | {
"variant": "NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)",
"pathway": "SARS-CoV-1 activates/modulates innate immune responses"
} | 0.81503 |
co_mech_00207 | mechanistic_explanation | coding_variant | hard | 3 | Explain the molecular mechanism by which NM_000051.4(ATM):c.667G>T (p.Glu223Ter) affects the Regulation of TP53 Expression pathway, citing each molecular step. | NM_000051.4(ATM):c.667G>T (p.Glu223Ter) VARIANT_IN_GENE ATM -> ATM PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> TP53 GENE_PARTICIPATES_IN_PATHWAY Regulation of TP53 Expression | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000051.4(ATM):c.667G>T (p.Glu223Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000051.4(ATM):c.667G>T (p.Glu223Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
... | NM_000051.4(ATM):c.667G>T (p.Glu223Ter) VARIANT_IN_GENE ATM -> ATM PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> TP53 GENE_PARTICIPATES_IN_PATHWAY Regulation of TP53 Expression | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "ATM",
"source_db": "UniProt",
"payload": {
"accession": "Q13315",
"sequence": "MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSKQGKYLNWDAVFRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSLVKYFIKCANRRAPRLKCQELLNYIMDTVKDSSNGA... | [
{
"source_db": "ClinVar",
"source_id": "ATM",
"text": "NM_000051.4(ATM):c.667G>T (p.Glu223Ter) VARIANT_IN_GENE ATM",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "TP53",
"text": "ATM PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53",
"confidence": 0.999
},
{
"source_... | {
"variant": "NM_000051.4(ATM):c.667G>T (p.Glu223Ter)",
"pathway": "Regulation of TP53 Expression"
} | 0.999667 |
co_mech_00208 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_007194.4(CHEK2):c.1476del (p.Arg493fs) affects the Affinity selection of immunoglobulins pathway, citing each molecular step. | NM_007194.4(CHEK2):c.1476del (p.Arg493fs) VARIANT_IN_GENE CHEK2 -> CHEK2 GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity -> CD4 GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity -> CD4 GENE_PARTICIPATES_IN_PATHWAY Affinity selection of immunoglobulins | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_007194.4(CHEK2):c.1476del (p.Arg493fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_007194.4(CHEK2):c.1476del (p.Arg493fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_007194.4(CHEK2):c.1476del (p.Arg493fs) VARIANT_IN_GENE CHEK2 -> CHEK2 GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity -> CD4 GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity -> CD4 GENE_PARTICIPATES_IN_PATHWAY Affinity selection of immunoglobulins | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CHEK2",
"source_db": "UniProt",
"payload": {
"accession": "O96017",
"sequence": "MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRT... | [
{
"source_db": "ClinVar",
"source_id": "CHEK2",
"text": "NM_007194.4(CHEK2):c.1476del (p.Arg493fs) VARIANT_IN_GENE CHEK2",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0042803",
"text": "CHEK2 GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity",
"confidence... | {
"variant": "NM_007194.4(CHEK2):c.1476del (p.Arg493fs)",
"pathway": "Affinity selection of immunoglobulins"
} | 0.774597 |
co_mech_00209 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs) affects the Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 pathway, citing each molecular step. | NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs) VARIANT_IN_GENE PMS2 -> PMS2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH POLD1 -> POLD1 GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> AR GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> AR GENE_PARTICIPATES_IN_PATHWAY Activated PKN1 stimulates transcription of AR (androgen recept... | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_conf... | NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs) VARIANT_IN_GENE PMS2 -> PMS2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH POLD1 -> POLD1 GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> AR GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> AR GENE_PARTICIPATES_IN_PATHWAY Activated PKN1 stimulates transcription of AR (androgen recept... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PMS2",
"source_db": "UniProt",
"payload": {
"accession": "P54278",
"sequence": "MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKDYGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDVTISTCHASAKVGTR... | [
{
"source_db": "ClinVar",
"source_id": "PMS2",
"text": "NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs) VARIANT_IN_GENE PMS2",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "POLD1",
"text": "PMS2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH POLD1",
"confidence": 0.961
},
{
... | {
"variant": "NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)",
"pathway": "Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3"
} | 0.808733 |
co_mech_00210 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser) affects the Drug-mediated inhibition of MET activation pathway, citing each molecular step. | NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser) VARIANT_IN_GENE NLRP3 -> NLRP3 GENE_ANNOTATED_WITH_GO_TERM positive regulation of transcription by RNA polymerase II -> HGF GENE_ANNOTATED_WITH_GO_TERM positive regulation of transcription by RNA polymerase II -> HGF GENE_PARTICIPATES_IN_PATHWAY Drug-mediated inhibition of M... | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser)",
"source_node_type": "VARIANT",
"source_node_label": "NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confid... | NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser) VARIANT_IN_GENE NLRP3 -> NLRP3 GENE_ANNOTATED_WITH_GO_TERM positive regulation of transcription by RNA polymerase II -> HGF GENE_ANNOTATED_WITH_GO_TERM positive regulation of transcription by RNA polymerase II -> HGF GENE_PARTICIPATES_IN_PATHWAY Drug-mediated inhibition of M... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "NLRP3",
"source_db": "UniProt",
"payload": {
"accession": "Q96P20",
"sequence": "MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMK... | [
{
"source_db": "ClinVar",
"source_id": "NLRP3",
"text": "NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser) VARIANT_IN_GENE NLRP3",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0045944",
"text": "NLRP3 GENE_ANNOTATED_WITH_GO_TERM positive regulation of transcription by RNA poly... | {
"variant": "NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser)",
"pathway": "Drug-mediated inhibition of MET activation"
} | 0.774597 |
co_mech_00211 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs) affects the NADE modulates death signalling pathway, citing each molecular step. | NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs) VARIANT_IN_GENE POLE -> POLE GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> CDKN1A GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> CASP3 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH CDKN1A -> CASP3 GENE_PARTICIPATES_IN_PATHWAY NADE modulates death signalling | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
... | NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs) VARIANT_IN_GENE POLE -> POLE GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> CDKN1A GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> CASP3 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH CDKN1A -> CASP3 GENE_PARTICIPATES_IN_PATHWAY NADE modulates death signalling | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "POLE",
"source_db": "UniProt",
"payload": {
"accession": "Q07864",
"sequence": "MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKTGWLINMHPTEILDEDKRLGSAVDYYFIQDDGSRFKVALPYKPYFYIATRKGCEREVSSFLSKKFQGKIAKVETV... | [
{
"source_db": "ClinVar",
"source_id": "POLE",
"text": "NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs) VARIANT_IN_GENE POLE",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0008270",
"text": "POLE GENE_ANNOTATED_WITH_GO_TERM zinc ion binding",
"confidence": 0.6
... | {
"variant": "NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs)",
"pathway": "NADE modulates death signalling"
} | 0.81454 |
co_mech_00212 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_007194.4(CHEK2):c.1239del (p.Gly414fs) affects the Regulation of pyruvate metabolism pathway, citing each molecular step. | NM_007194.4(CHEK2):c.1239del (p.Gly414fs) VARIANT_IN_GENE CHEK2 -> CHEK2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> NEK1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> NEK1 GENE_PARTICIPATES_IN_PATHWAY Regulation of pyruvate metabolism | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_007194.4(CHEK2):c.1239del (p.Gly414fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_007194.4(CHEK2):c.1239del (p.Gly414fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_007194.4(CHEK2):c.1239del (p.Gly414fs) VARIANT_IN_GENE CHEK2 -> CHEK2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> NEK1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> NEK1 GENE_PARTICIPATES_IN_PATHWAY Regulation of pyruvate metabolism | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CHEK2",
"source_db": "UniProt",
"payload": {
"accession": "O96017",
"sequence": "MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRT... | [
{
"source_db": "ClinVar",
"source_id": "CHEK2",
"text": "NM_007194.4(CHEK2):c.1239del (p.Gly414fs) VARIANT_IN_GENE CHEK2",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0005524",
"text": "CHEK2 GENE_ANNOTATED_WITH_GO_TERM ATP binding",
"confidence": 0.6
},
{
"s... | {
"variant": "NM_007194.4(CHEK2):c.1239del (p.Gly414fs)",
"pathway": "Regulation of pyruvate metabolism"
} | 0.774597 |
co_mech_00213 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) affects the TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain pathway, citing each molecular step. | NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) VARIANT_IN_GENE OPTN -> OPTN PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH HTT -> HTT PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> TP53 GENE_PARTICIPATES_IN_PATHWAY TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis... | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edg... | NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) VARIANT_IN_GENE OPTN -> OPTN PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH HTT -> HTT PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> TP53 GENE_PARTICIPATES_IN_PATHWAY TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "OPTN",
"source_db": "UniProt",
"payload": {
"accession": "Q96CV9",
"sequence": "MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRA... | [
{
"source_db": "ClinVar",
"source_id": "OPTN",
"text": "NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) VARIANT_IN_GENE OPTN",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "HTT",
"text": "OPTN PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH HTT",
"confidence": 0.997
},
{
... | {
"variant": "NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)",
"pathway": "TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain"
} | 0.998749 |
co_mech_00214 | mechanistic_explanation | coding_variant | hard | 3 | Explain the molecular mechanism by which NM_000546.6(TP53):c.672+2_672+3delinsAA affects the Negative regulation of FGFR2 signaling pathway, citing each molecular step. | NM_000546.6(TP53):c.672+2_672+3delinsAA VARIANT_IN_GENE TP53 -> MAPK1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> MAPK1 GENE_PARTICIPATES_IN_PATHWAY Negative regulation of FGFR2 signaling | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000546.6(TP53):c.672+2_672+3delinsAA",
"source_node_type": "VARIANT",
"source_node_label": "NM_000546.6(TP53):c.672+2_672+3delinsAA",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
... | NM_000546.6(TP53):c.672+2_672+3delinsAA VARIANT_IN_GENE TP53 -> MAPK1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> MAPK1 GENE_PARTICIPATES_IN_PATHWAY Negative regulation of FGFR2 signaling | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "TP53",
"source_db": "UniProt",
"payload": {
"accession": "P04637",
"sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMF... | [
{
"source_db": "ClinVar",
"source_id": "TP53",
"text": "NM_000546.6(TP53):c.672+2_672+3delinsAA VARIANT_IN_GENE TP53",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "MAPK1",
"text": "MAPK1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53",
"confidence": 0.998
},
{
"so... | {
"variant": "NM_000546.6(TP53):c.672+2_672+3delinsAA",
"pathway": "Negative regulation of FGFR2 signaling"
} | 0.999333 |
co_mech_00215 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_023110.3(FGFR1):c.448+1G>A affects the Hedgehog ligand biogenesis pathway, citing each molecular step. | NM_023110.3(FGFR1):c.448+1G>A VARIANT_IN_GENE FGFR1 -> FGFR1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> VCP GENE_ANNOTATED_WITH_GO_TERM ATP binding -> VCP GENE_PARTICIPATES_IN_PATHWAY Hedgehog ligand biogenesis | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_023110.3(FGFR1):c.448+1G>A",
"source_node_type": "VARIANT",
"source_node_label": "NM_023110.3(FGFR1):c.448+1G>A",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
"edge_source_d... | NM_023110.3(FGFR1):c.448+1G>A VARIANT_IN_GENE FGFR1 -> FGFR1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> VCP GENE_ANNOTATED_WITH_GO_TERM ATP binding -> VCP GENE_PARTICIPATES_IN_PATHWAY Hedgehog ligand biogenesis | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "FGFR1",
"source_db": "UniProt",
"payload": {
"accession": "P11362",
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDD... | [
{
"source_db": "ClinVar",
"source_id": "FGFR1",
"text": "NM_023110.3(FGFR1):c.448+1G>A VARIANT_IN_GENE FGFR1",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0005524",
"text": "FGFR1 GENE_ANNOTATED_WITH_GO_TERM ATP binding",
"confidence": 0.6
},
{
"source_db": "... | {
"variant": "NM_023110.3(FGFR1):c.448+1G>A",
"pathway": "Hedgehog ligand biogenesis"
} | 0.774597 |
co_mech_00216 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_001042492.3(NF1):c.288+2025T>G affects the tRNA-derived small RNA (tsRNA or tRNA-related fragment, tRF) biogenesis pathway, citing each molecular step. | NM_001042492.3(NF1):c.288+2025T>G VARIANT_IN_GENE NF1 -> NF1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRAF -> BRAF GENE_ANNOTATED_WITH_GO_TERM negative regulation of apoptotic process -> ANG GENE_ANNOTATED_WITH_GO_TERM negative regulation of apoptotic process -> ANG GENE_PARTICIPATES_IN_PATHWAY tRNA-derived small RNA (tsRN... | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_001042492.3(NF1):c.288+2025T>G",
"source_node_type": "VARIANT",
"source_node_label": "NM_001042492.3(NF1):c.288+2025T>G",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
"edge_... | NM_001042492.3(NF1):c.288+2025T>G VARIANT_IN_GENE NF1 -> NF1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRAF -> BRAF GENE_ANNOTATED_WITH_GO_TERM negative regulation of apoptotic process -> ANG GENE_ANNOTATED_WITH_GO_TERM negative regulation of apoptotic process -> ANG GENE_PARTICIPATES_IN_PATHWAY tRNA-derived small RNA (tsRN... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "NF1",
"source_db": "UniProt",
"payload": {
"accession": "P21359",
"sequence": "MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELR... | [
{
"source_db": "ClinVar",
"source_id": "NF1",
"text": "NM_001042492.3(NF1):c.288+2025T>G VARIANT_IN_GENE NF1",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "BRAF",
"text": "NF1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRAF",
"confidence": 0.903
},
{
"source_db": "... | {
"variant": "NM_001042492.3(NF1):c.288+2025T>G",
"pathway": "tRNA-derived small RNA (tsRNA or tRNA-related fragment, tRF) biogenesis"
} | 0.798726 |
co_mech_00217 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_001042492.3(NF1):c.3895A>T (p.Lys1299Ter) affects the CTNNB1 S33 mutants aren't phosphorylated pathway, citing each molecular step. | NM_001042492.3(NF1):c.3895A>T (p.Lys1299Ter) VARIANT_IN_GENE NF1 -> NF1 GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process -> APC GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process -> APC GENE_PARTICIPATES_IN_PATHWAY CTNNB1 S33 mutants aren't phosphorylated | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_001042492.3(NF1):c.3895A>T (p.Lys1299Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_001042492.3(NF1):c.3895A>T (p.Lys1299Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confid... | NM_001042492.3(NF1):c.3895A>T (p.Lys1299Ter) VARIANT_IN_GENE NF1 -> NF1 GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process -> APC GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process -> APC GENE_PARTICIPATES_IN_PATHWAY CTNNB1 S33 mutants aren't phosphorylated | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "NF1",
"source_db": "UniProt",
"payload": {
"accession": "P21359",
"sequence": "MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELR... | [
{
"source_db": "ClinVar",
"source_id": "NF1",
"text": "NM_001042492.3(NF1):c.3895A>T (p.Lys1299Ter) VARIANT_IN_GENE NF1",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0043065",
"text": "NF1 GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process",
"confid... | {
"variant": "NM_001042492.3(NF1):c.3895A>T (p.Lys1299Ter)",
"pathway": "CTNNB1 S33 mutants aren't phosphorylated"
} | 0.774597 |
co_mech_00218 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NC_000017.10:g.(?_56769986)_(56774230_?)del affects the Formation of tubulin folding intermediates by CCT/TriC pathway, citing each molecular step. | NC_000017.10:g.(?_56769986)_(56774230_?)del VARIANT_IN_GENE RAD51C -> RAD51C GENE_ANNOTATED_WITH_GO_TERM supramolecular fiber organization -> MAPT GENE_ANNOTATED_WITH_GO_TERM supramolecular fiber organization -> MAPT PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TUBA4A -> TUBA4A GENE_PARTICIPATES_IN_PATHWAY Formation of tubulin... | {
"steps": [
{
"hop": 1,
"source_node_id": "NC_000017.10:g.(?_56769986)_(56774230_?)del",
"source_node_type": "VARIANT",
"source_node_label": "NC_000017.10:g.(?_56769986)_(56774230_?)del",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confiden... | NC_000017.10:g.(?_56769986)_(56774230_?)del VARIANT_IN_GENE RAD51C -> RAD51C GENE_ANNOTATED_WITH_GO_TERM supramolecular fiber organization -> MAPT GENE_ANNOTATED_WITH_GO_TERM supramolecular fiber organization -> MAPT PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TUBA4A -> TUBA4A GENE_PARTICIPATES_IN_PATHWAY Formation of tubulin... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "RAD51C",
"source_db": "UniProt",
"payload": {
"accession": "O43502",
"sequence": "MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKT... | [
{
"source_db": "ClinVar",
"source_id": "RAD51C",
"text": "NC_000017.10:g.(?_56769986)_(56774230_?)del VARIANT_IN_GENE RAD51C",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0097435",
"text": "RAD51C GENE_ANNOTATED_WITH_GO_TERM supramolecular fiber organization",
"confi... | {
"variant": "NC_000017.10:g.(?_56769986)_(56774230_?)del",
"pathway": "Formation of tubulin folding intermediates by CCT/TriC"
} | 0.812072 |
co_mech_00219 | mechanistic_explanation | coding_variant | medium | 4 | Explain the molecular mechanism by which NM_007194.4(CHEK2):c.793-2A>G affects the Degradation of GLI1 by the proteasome pathway, citing each molecular step. | NM_007194.4(CHEK2):c.793-2A>G VARIANT_IN_GENE CHEK2 -> CHEK2 GENE_PARTICIPATES_IN_PATHWAY Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A -> PSMA6 GENE_PARTICIPATES_IN_PATHWAY Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A -> PSMA6 GENE_PARTICIPATES_IN_PATHWAY Degradation of GLI1 by the proteasome | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_007194.4(CHEK2):c.793-2A>G",
"source_node_type": "VARIANT",
"source_node_label": "NM_007194.4(CHEK2):c.793-2A>G",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
"edge_source_d... | NM_007194.4(CHEK2):c.793-2A>G VARIANT_IN_GENE CHEK2 -> CHEK2 GENE_PARTICIPATES_IN_PATHWAY Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A -> PSMA6 GENE_PARTICIPATES_IN_PATHWAY Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A -> PSMA6 GENE_PARTICIPATES_IN_PATHWAY Degradation of GLI1 by the proteasome | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CHEK2",
"source_db": "UniProt",
"payload": {
"accession": "O96017",
"sequence": "MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRT... | [
{
"source_db": "ClinVar",
"source_id": "CHEK2",
"text": "NM_007194.4(CHEK2):c.793-2A>G VARIANT_IN_GENE CHEK2",
"confidence": 1
},
{
"source_db": "Reactome",
"source_id": "R-HSA-69601",
"text": "CHEK2 GENE_PARTICIPATES_IN_PATHWAY Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A... | {
"variant": "NM_007194.4(CHEK2):c.793-2A>G",
"pathway": "Degradation of GLI1 by the proteasome"
} | 1 |
co_mech_00220 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) affects the IRF3-mediated induction of type I IFN pathway, citing each molecular step. | NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) VARIANT_IN_GENE MSH2 -> MSH2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> TBK1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> TBK1 GENE_PARTICIPATES_IN_PATHWAY IRF3-mediated induction of type I IFN | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) VARIANT_IN_GENE MSH2 -> MSH2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> TBK1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> TBK1 GENE_PARTICIPATES_IN_PATHWAY IRF3-mediated induction of type I IFN | null | [
"conservation",
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "evolutionary",
"tag": "conservation",
"anchor_node_id": "NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)",
"source_db": "UCSC_phyloP",
"payload": {
"chrom": "chr2",
"pos": 47478421,
"track": "phyloP100way",
"window": 20,
"scores": [
1.91293,
9... | [
{
"source_db": "ClinVar",
"source_id": "MSH2",
"text": "NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) VARIANT_IN_GENE MSH2",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0005524",
"text": "MSH2 GENE_ANNOTATED_WITH_GO_TERM ATP binding",
"confidence": 0.6
},
{
"sour... | {
"variant": "NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)",
"pathway": "IRF3-mediated induction of type I IFN"
} | 0.774597 |
co_mech_00221 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_000251.3(MSH2):c.1387-2del affects the Induction of Cell-Cell Fusion pathway, citing each molecular step. | NM_000251.3(MSH2):c.1387-2del VARIANT_IN_GENE MSH2 -> Single allele VARIANT_IN_GENE MSH2 -> Single allele VARIANT_IN_GENE ACE2 -> TMPRSS2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH ACE2 -> TMPRSS2 GENE_PARTICIPATES_IN_PATHWAY Induction of Cell-Cell Fusion | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000251.3(MSH2):c.1387-2del",
"source_node_type": "VARIANT",
"source_node_label": "NM_000251.3(MSH2):c.1387-2del",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
"edge_source_d... | NM_000251.3(MSH2):c.1387-2del VARIANT_IN_GENE MSH2 -> Single allele VARIANT_IN_GENE MSH2 -> Single allele VARIANT_IN_GENE ACE2 -> TMPRSS2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH ACE2 -> TMPRSS2 GENE_PARTICIPATES_IN_PATHWAY Induction of Cell-Cell Fusion | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "MSH2",
"source_db": "UniProt",
"payload": {
"accession": "P43246",
"sequence": "MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDI... | [
{
"source_db": "ClinVar",
"source_id": "MSH2",
"text": "NM_000251.3(MSH2):c.1387-2del VARIANT_IN_GENE MSH2",
"confidence": 1
},
{
"source_db": "ClinVar",
"source_id": "Single allele",
"text": "Single allele VARIANT_IN_GENE MSH2",
"confidence": 1
},
{
"source_db": "ClinVar... | {
"variant": "NM_000251.3(MSH2):c.1387-2del",
"pathway": "Induction of Cell-Cell Fusion"
} | 0.9998 |
co_mech_00222 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_000535.7(PMS2):c.534del (p.Lys179fs) affects the NGF-stimulated transcription pathway, citing each molecular step. | NM_000535.7(PMS2):c.534del (p.Lys179fs) VARIANT_IN_GENE PMS2 -> PMS2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH POLD1 -> POLD1 GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> REST GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> REST GENE_PARTICIPATES_IN_PATHWAY NGF-stimulated transcription | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000535.7(PMS2):c.534del (p.Lys179fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000535.7(PMS2):c.534del (p.Lys179fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
... | NM_000535.7(PMS2):c.534del (p.Lys179fs) VARIANT_IN_GENE PMS2 -> PMS2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH POLD1 -> POLD1 GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> REST GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> REST GENE_PARTICIPATES_IN_PATHWAY NGF-stimulated transcription | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PMS2",
"source_db": "UniProt",
"payload": {
"accession": "P54278",
"sequence": "MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKDYGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDVTISTCHASAKVGTR... | [
{
"source_db": "ClinVar",
"source_id": "PMS2",
"text": "NM_000535.7(PMS2):c.534del (p.Lys179fs) VARIANT_IN_GENE PMS2",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "POLD1",
"text": "PMS2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH POLD1",
"confidence": 0.961
},
{
"so... | {
"variant": "NM_000535.7(PMS2):c.534del (p.Lys179fs)",
"pathway": "NGF-stimulated transcription"
} | 0.808733 |
co_mech_00223 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000535.7(PMS2):c.1281del (p.His428fs) affects the Interleukin-20 family signaling pathway, citing each molecular step. | NM_000535.7(PMS2):c.1281del (p.His428fs) VARIANT_IN_GENE PMS2 -> PMS2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> JAK2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> JAK2 GENE_PARTICIPATES_IN_PATHWAY Interleukin-20 family signaling | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000535.7(PMS2):c.1281del (p.His428fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000535.7(PMS2):c.1281del (p.His428fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1... | NM_000535.7(PMS2):c.1281del (p.His428fs) VARIANT_IN_GENE PMS2 -> PMS2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> JAK2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> JAK2 GENE_PARTICIPATES_IN_PATHWAY Interleukin-20 family signaling | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PMS2",
"source_db": "UniProt",
"payload": {
"accession": "P54278",
"sequence": "MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKDYGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDVTISTCHASAKVGTR... | [
{
"source_db": "ClinVar",
"source_id": "PMS2",
"text": "NM_000535.7(PMS2):c.1281del (p.His428fs) VARIANT_IN_GENE PMS2",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0005524",
"text": "PMS2 GENE_ANNOTATED_WITH_GO_TERM ATP binding",
"confidence": 0.6
},
{
"sourc... | {
"variant": "NM_000535.7(PMS2):c.1281del (p.His428fs)",
"pathway": "Interleukin-20 family signaling"
} | 0.774597 |
co_mech_00224 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_013254.4(TBK1):c.87G>A (p.Lys29=) affects the Drug-mediated inhibition of ERBB2 signaling pathway, citing each molecular step. | NM_013254.4(TBK1):c.87G>A (p.Lys29=) VARIANT_IN_GENE TBK1 -> TBK1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_PARTICIPATES_IN_PATHWAY Drug-mediated inhibition of ERBB2 signaling | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_013254.4(TBK1):c.87G>A (p.Lys29=)",
"source_node_type": "VARIANT",
"source_node_label": "NM_013254.4(TBK1):c.87G>A (p.Lys29=)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
... | NM_013254.4(TBK1):c.87G>A (p.Lys29=) VARIANT_IN_GENE TBK1 -> TBK1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_PARTICIPATES_IN_PATHWAY Drug-mediated inhibition of ERBB2 signaling | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "TBK1",
"source_db": "UniProt",
"payload": {
"accession": "Q9UHD2",
"sequence": "MQSTSNHLWLLSDILGQGATANVFRGRHKKTGDLFAIKVFNNISFLRPVDVQMREFEVLKKLNHKNIVKLFAIEEETTTRHKVLIMEFCPCGSLYTVLEEPSNAYGLPESEFLIVLRDVVGGMNHLRENGIVHR... | [
{
"source_db": "ClinVar",
"source_id": "TBK1",
"text": "NM_013254.4(TBK1):c.87G>A (p.Lys29=) VARIANT_IN_GENE TBK1",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0005524",
"text": "TBK1 GENE_ANNOTATED_WITH_GO_TERM ATP binding",
"confidence": 0.6
},
{
"source_db... | {
"variant": "NM_013254.4(TBK1):c.87G>A (p.Lys29=)",
"pathway": "Drug-mediated inhibition of ERBB2 signaling"
} | 0.774597 |
co_mech_00225 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) affects the Resistance of ERBB2 KD mutants to neratinib pathway, citing each molecular step. | NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) VARIANT_IN_GENE BRAF -> BRAF GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_PARTICIPATES_IN_PATHWAY Resistance of ERBB2 KD mutants to neratinib | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)",
"source_node_type": "VARIANT",
"source_node_label": "NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1... | NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) VARIANT_IN_GENE BRAF -> BRAF GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> ERBB2 GENE_PARTICIPATES_IN_PATHWAY Resistance of ERBB2 KD mutants to neratinib | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRAF",
"source_db": "UniProt",
"payload": {
"accession": "P15056",
"sequence": "MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEHIEALLDKFGGEHNPPSIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTVTSSSSSSLSVLPSS... | [
{
"source_db": "ClinVar",
"source_id": "BRAF",
"text": "NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) VARIANT_IN_GENE BRAF",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0005524",
"text": "BRAF GENE_ANNOTATED_WITH_GO_TERM ATP binding",
"confidence": 0.6
},
{
"sourc... | {
"variant": "NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)",
"pathway": "Resistance of ERBB2 KD mutants to neratinib"
} | 0.774597 |
co_mech_00226 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000038.6(APC):c.1465dup (p.Thr489fs) affects the COPI-independent Golgi-to-ER retrograde traffic pathway, citing each molecular step. | NM_000038.6(APC):c.1465dup (p.Thr489fs) VARIANT_IN_GENE APC -> APC GENE_ANNOTATED_WITH_GO_TERM protein kinase binding -> TUBA4A GENE_ANNOTATED_WITH_GO_TERM protein kinase binding -> TUBA4A GENE_PARTICIPATES_IN_PATHWAY COPI-independent Golgi-to-ER retrograde traffic | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000038.6(APC):c.1465dup (p.Thr489fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000038.6(APC):c.1465dup (p.Thr489fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
... | NM_000038.6(APC):c.1465dup (p.Thr489fs) VARIANT_IN_GENE APC -> APC GENE_ANNOTATED_WITH_GO_TERM protein kinase binding -> TUBA4A GENE_ANNOTATED_WITH_GO_TERM protein kinase binding -> TUBA4A GENE_PARTICIPATES_IN_PATHWAY COPI-independent Golgi-to-ER retrograde traffic | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "APC",
"source_db": "UniProt",
"payload": {
"accession": "P25054",
"sequence": "MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAMASSGQIDLLERLKELNLDSSNFPGVKLRSKMSLRSYGSREGSVSSRSGECSPVPMGSFPRRGFVNGSRESTGYLE... | [
{
"source_db": "ClinVar",
"source_id": "APC",
"text": "NM_000038.6(APC):c.1465dup (p.Thr489fs) VARIANT_IN_GENE APC",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0019901",
"text": "APC GENE_ANNOTATED_WITH_GO_TERM protein kinase binding",
"confidence": 0.6
},
{
... | {
"variant": "NM_000038.6(APC):c.1465dup (p.Thr489fs)",
"pathway": "COPI-independent Golgi-to-ER retrograde traffic"
} | 0.774597 |
co_mech_00227 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_004655.4(AXIN2):c.2012_2022del (p.Arg671fs) affects the SHC1 events in ERBB2 signaling pathway, citing each molecular step. | NM_004655.4(AXIN2):c.2012_2022del (p.Arg671fs) VARIANT_IN_GENE AXIN2 -> AXIN2 GENE_ANNOTATED_WITH_GO_TERM ubiquitin protein ligase binding -> EGFR GENE_ANNOTATED_WITH_GO_TERM ubiquitin protein ligase binding -> EGFR GENE_PARTICIPATES_IN_PATHWAY SHC1 events in ERBB2 signaling | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_004655.4(AXIN2):c.2012_2022del (p.Arg671fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_004655.4(AXIN2):c.2012_2022del (p.Arg671fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_co... | NM_004655.4(AXIN2):c.2012_2022del (p.Arg671fs) VARIANT_IN_GENE AXIN2 -> AXIN2 GENE_ANNOTATED_WITH_GO_TERM ubiquitin protein ligase binding -> EGFR GENE_ANNOTATED_WITH_GO_TERM ubiquitin protein ligase binding -> EGFR GENE_PARTICIPATES_IN_PATHWAY SHC1 events in ERBB2 signaling | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "AXIN2",
"source_db": "UniProt",
"payload": {
"accession": "Q9Y2T1",
"sequence": "MSSAMLVTCLPDPSSSFREDAPRPPVPGEEGETPPCQPGVGKGQVTKPMPVSSNTRRNEDGLGEPEGRASPDSPLTRWTKSLHSLLGDQDGAYLFRTFLEREKCVDTLDFWFACNGFRQMNLKDTKTLRVAKA... | [
{
"source_db": "ClinVar",
"source_id": "AXIN2",
"text": "NM_004655.4(AXIN2):c.2012_2022del (p.Arg671fs) VARIANT_IN_GENE AXIN2",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0031625",
"text": "AXIN2 GENE_ANNOTATED_WITH_GO_TERM ubiquitin protein ligase binding",
"confid... | {
"variant": "NM_004655.4(AXIN2):c.2012_2022del (p.Arg671fs)",
"pathway": "SHC1 events in ERBB2 signaling"
} | 0.774597 |
co_mech_00228 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_007194.4(CHEK2):c.1415del (p.Lys472fs) affects the Activation of anterior HOX genes in hindbrain development during early embryogenesis pathway, citing each molecular step. | NM_007194.4(CHEK2):c.1415del (p.Lys472fs) VARIANT_IN_GENE CHEK2 -> CHEK2 GENE_ANNOTATED_WITH_GO_TERM metal ion binding -> KDM6A GENE_ANNOTATED_WITH_GO_TERM metal ion binding -> KDM6A GENE_PARTICIPATES_IN_PATHWAY Activation of anterior HOX genes in hindbrain development during early embryogenesis | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_007194.4(CHEK2):c.1415del (p.Lys472fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_007194.4(CHEK2):c.1415del (p.Lys472fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_007194.4(CHEK2):c.1415del (p.Lys472fs) VARIANT_IN_GENE CHEK2 -> CHEK2 GENE_ANNOTATED_WITH_GO_TERM metal ion binding -> KDM6A GENE_ANNOTATED_WITH_GO_TERM metal ion binding -> KDM6A GENE_PARTICIPATES_IN_PATHWAY Activation of anterior HOX genes in hindbrain development during early embryogenesis | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CHEK2",
"source_db": "UniProt",
"payload": {
"accession": "O96017",
"sequence": "MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRT... | [
{
"source_db": "ClinVar",
"source_id": "CHEK2",
"text": "NM_007194.4(CHEK2):c.1415del (p.Lys472fs) VARIANT_IN_GENE CHEK2",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0046872",
"text": "CHEK2 GENE_ANNOTATED_WITH_GO_TERM metal ion binding",
"confidence": 0.6
},
{
... | {
"variant": "NM_007194.4(CHEK2):c.1415del (p.Lys472fs)",
"pathway": "Activation of anterior HOX genes in hindbrain development during early embryogenesis"
} | 0.774597 |
co_mech_00229 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) affects the Activation of STAT3 by cadherin engagement pathway, citing each molecular step. | NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) VARIANT_IN_GENE MSH2 -> MSH2 GENE_ANNOTATED_WITH_GO_TERM male gonad development -> CTNNA1 GENE_ANNOTATED_WITH_GO_TERM male gonad development -> CTNNA1 GENE_PARTICIPATES_IN_PATHWAY Activation of STAT3 by cadherin engagement | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) VARIANT_IN_GENE MSH2 -> MSH2 GENE_ANNOTATED_WITH_GO_TERM male gonad development -> CTNNA1 GENE_ANNOTATED_WITH_GO_TERM male gonad development -> CTNNA1 GENE_PARTICIPATES_IN_PATHWAY Activation of STAT3 by cadherin engagement | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "MSH2",
"source_db": "UniProt",
"payload": {
"accession": "P43246",
"sequence": "MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDI... | [
{
"source_db": "ClinVar",
"source_id": "MSH2",
"text": "NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) VARIANT_IN_GENE MSH2",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0008584",
"text": "MSH2 GENE_ANNOTATED_WITH_GO_TERM male gonad development",
"confidence": 0.6
},
... | {
"variant": "NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)",
"pathway": "Activation of STAT3 by cadherin engagement"
} | 0.774597 |
co_mech_00230 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000455.5(STK11):c.446del (p.Pro149fs) affects the Transcriptional regulation of multiciliogenesis pathway, citing each molecular step. | NM_000455.5(STK11):c.446del (p.Pro149fs) VARIANT_IN_GENE STK11 -> STK11 GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation -> NOTCH1 GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation -> NOTCH1 GENE_PARTICIPATES_IN_PATHWAY Transcriptional regulation of multici... | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000455.5(STK11):c.446del (p.Pro149fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000455.5(STK11):c.446del (p.Pro149fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1... | NM_000455.5(STK11):c.446del (p.Pro149fs) VARIANT_IN_GENE STK11 -> STK11 GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation -> NOTCH1 GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation -> NOTCH1 GENE_PARTICIPATES_IN_PATHWAY Transcriptional regulation of multici... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "STK11",
"source_db": "UniProt",
"payload": {
"accession": "Q15831",
"sequence": "MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKILKKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCV... | [
{
"source_db": "ClinVar",
"source_id": "STK11",
"text": "NM_000455.5(STK11):c.446del (p.Pro149fs) VARIANT_IN_GENE STK11",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0008285",
"text": "STK11 GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation... | {
"variant": "NM_000455.5(STK11):c.446del (p.Pro149fs)",
"pathway": "Transcriptional regulation of multiciliogenesis"
} | 0.774597 |
co_mech_00231 | mechanistic_explanation | coding_variant | hard | 3 | Explain the molecular mechanism by which NM_000059.4(BRCA2):c.3971dup (p.Tyr1324Ter) affects the WNT pathway, citing each molecular step. | NM_000059.4(BRCA2):c.3971dup (p.Tyr1324Ter) VARIANT_IN_GENE BRCA2 -> BRCA2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRCA1 -> BRCA1 GENE_PARTICIPATES_IN_PATHWAY WNT | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000059.4(BRCA2):c.3971dup (p.Tyr1324Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000059.4(BRCA2):c.3971dup (p.Tyr1324Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confiden... | NM_000059.4(BRCA2):c.3971dup (p.Tyr1324Ter) VARIANT_IN_GENE BRCA2 -> BRCA2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRCA1 -> BRCA1 GENE_PARTICIPATES_IN_PATHWAY WNT | null | [
"expression",
"intercell_role",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRCA2",
"source_db": "UniProt",
"payload": {
"accession": "P51587",
"sequence": "MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEESEHKNNNYEPNLFKTPQRKPSYNQLASTPIIFKEQGLTLPLYQSPVKELDKFKLDLGRNVPNSRHKSLRTVKTKMDQADDVSCP... | [
{
"source_db": "ClinVar",
"source_id": "BRCA2",
"text": "NM_000059.4(BRCA2):c.3971dup (p.Tyr1324Ter) VARIANT_IN_GENE BRCA2",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "BRCA1",
"text": "BRCA2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRCA1",
"confidence": 0.999
},
{
... | {
"variant": "NM_000059.4(BRCA2):c.3971dup (p.Tyr1324Ter)",
"pathway": "WNT"
} | 0.946952 |
co_mech_00232 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_001042492.3(NF1):c.4877A>C (p.His1626Pro) affects the RHO GTPases Activate WASPs and WAVEs pathway, citing each molecular step. | NM_001042492.3(NF1):c.4877A>C (p.His1626Pro) VARIANT_IN_GENE NF1 -> NF1 GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process -> ABL1 GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process -> ABL1 GENE_PARTICIPATES_IN_PATHWAY RHO GTPases Activate WASPs and WAVEs | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)",
"source_node_type": "VARIANT",
"source_node_label": "NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confid... | NM_001042492.3(NF1):c.4877A>C (p.His1626Pro) VARIANT_IN_GENE NF1 -> NF1 GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process -> ABL1 GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process -> ABL1 GENE_PARTICIPATES_IN_PATHWAY RHO GTPases Activate WASPs and WAVEs | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "NF1",
"source_db": "UniProt",
"payload": {
"accession": "P21359",
"sequence": "MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELR... | [
{
"source_db": "ClinVar",
"source_id": "NF1",
"text": "NM_001042492.3(NF1):c.4877A>C (p.His1626Pro) VARIANT_IN_GENE NF1",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0043065",
"text": "NF1 GENE_ANNOTATED_WITH_GO_TERM positive regulation of apoptotic process",
"confid... | {
"variant": "NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)",
"pathway": "RHO GTPases Activate WASPs and WAVEs"
} | 0.774597 |
co_mech_00233 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_000059.4(BRCA2):c.8373del (p.Lys2791fs) affects the Separation of Sister Chromatids pathway, citing each molecular step. | NM_000059.4(BRCA2):c.8373del (p.Lys2791fs) VARIANT_IN_GENE BRCA2 -> BRCA2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRCA1 -> BRCA1 GENE_PARTICIPATES_IN_PATHWAY Neddylation -> BIRC5 GENE_PARTICIPATES_IN_PATHWAY Neddylation -> BIRC5 GENE_PARTICIPATES_IN_PATHWAY Separation of Sister Chromatids | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000059.4(BRCA2):c.8373del (p.Lys2791fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000059.4(BRCA2):c.8373del (p.Lys2791fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence... | NM_000059.4(BRCA2):c.8373del (p.Lys2791fs) VARIANT_IN_GENE BRCA2 -> BRCA2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRCA1 -> BRCA1 GENE_PARTICIPATES_IN_PATHWAY Neddylation -> BIRC5 GENE_PARTICIPATES_IN_PATHWAY Neddylation -> BIRC5 GENE_PARTICIPATES_IN_PATHWAY Separation of Sister Chromatids | null | [
"expression",
"intercell_role",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRCA2",
"source_db": "UniProt",
"payload": {
"accession": "P51587",
"sequence": "MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEESEHKNNNYEPNLFKTPQRKPSYNQLASTPIIFKEQGLTLPLYQSPVKELDKFKLDLGRNVPNSRHKSLRTVKTKMDQADDVSCP... | [
{
"source_db": "ClinVar",
"source_id": "BRCA2",
"text": "NM_000059.4(BRCA2):c.8373del (p.Lys2791fs) VARIANT_IN_GENE BRCA2",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "BRCA1",
"text": "BRCA2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRCA1",
"confidence": 0.999
},
{
... | {
"variant": "NM_000059.4(BRCA2):c.8373del (p.Lys2791fs)",
"pathway": "Separation of Sister Chromatids"
} | 0.9998 |
co_mech_00234 | mechanistic_explanation | coding_variant | hard | 3 | Explain the molecular mechanism by which NM_007294.4(BRCA1):c.3838del (p.Ser1280fs) affects the Ovarian tumor domain proteases pathway, citing each molecular step. | NM_007294.4(BRCA1):c.3838del (p.Ser1280fs) VARIANT_IN_GENE BRCA1 -> BRCA1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> TP53 GENE_PARTICIPATES_IN_PATHWAY Ovarian tumor domain proteases | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_007294.4(BRCA1):c.3838del (p.Ser1280fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_007294.4(BRCA1):c.3838del (p.Ser1280fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence... | NM_007294.4(BRCA1):c.3838del (p.Ser1280fs) VARIANT_IN_GENE BRCA1 -> BRCA1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> TP53 GENE_PARTICIPATES_IN_PATHWAY Ovarian tumor domain proteases | null | [
"expression",
"intercell_role",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRCA1",
"source_db": "UniProt",
"payload": {
"accession": "P38398",
"sequence": "MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVSIIQSMGYRNR... | [
{
"source_db": "ClinVar",
"source_id": "BRCA1",
"text": "NM_007294.4(BRCA1):c.3838del (p.Ser1280fs) VARIANT_IN_GENE BRCA1",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "TP53",
"text": "BRCA1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53",
"confidence": 0.999
},
{
... | {
"variant": "NM_007294.4(BRCA1):c.3838del (p.Ser1280fs)",
"pathway": "Ovarian tumor domain proteases"
} | 0.999667 |
co_mech_00235 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_022089.4(ATP13A2):c.2413-2A>G affects the PI3K pathway, citing each molecular step. | NM_022089.4(ATP13A2):c.2413-2A>G VARIANT_IN_GENE ATP13A2 -> ATP13A2 GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> BRCA1 GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> BRCA1 GENE_PARTICIPATES_IN_PATHWAY PI3K | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_022089.4(ATP13A2):c.2413-2A>G",
"source_node_type": "VARIANT",
"source_node_label": "NM_022089.4(ATP13A2):c.2413-2A>G",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
"edge_so... | NM_022089.4(ATP13A2):c.2413-2A>G VARIANT_IN_GENE ATP13A2 -> ATP13A2 GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> BRCA1 GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> BRCA1 GENE_PARTICIPATES_IN_PATHWAY PI3K | null | [
"expression",
"intercell_role",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "ATP13A2",
"source_db": "UniProt",
"payload": {
"accession": "Q9NQ11",
"sequence": "MSADSSPLVGSTPTGYGTLTIGTSIDPLSSSVSSVRLSGYCGSPWRVIGYHVVVWMMAGIPLLLFRWKPLWGVRLRLRPCNLAHAETLVIEIRDKEDSSWQLFTVQVQTEAIGEGSLEPSPQSQAEDGRSQ... | [
{
"source_db": "ClinVar",
"source_id": "ATP13A2",
"text": "NM_022089.4(ATP13A2):c.2413-2A>G VARIANT_IN_GENE ATP13A2",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0008270",
"text": "ATP13A2 GENE_ANNOTATED_WITH_GO_TERM zinc ion binding",
"confidence": 0.6
},
{
... | {
"variant": "NM_022089.4(ATP13A2):c.2413-2A>G",
"pathway": "PI3K"
} | 0.743756 |
co_mech_00236 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_004960.4(FUS):c.253C>T (p.Gln85Ter) affects the FLT3 signaling through SRC family kinases pathway, citing each molecular step. | NM_004960.4(FUS):c.253C>T (p.Gln85Ter) VARIANT_IN_GENE FUS -> FUS GENE_ANNOTATED_WITH_GO_TERM regulation of DNA-templated transcription -> CEBPA GENE_ANNOTATED_WITH_GO_TERM regulation of DNA-templated transcription -> CEBPA PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH FLT3 -> FLT3 GENE_PARTICIPATES_IN_PATHWAY FLT3 signaling th... | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_004960.4(FUS):c.253C>T (p.Gln85Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_004960.4(FUS):c.253C>T (p.Gln85Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
... | NM_004960.4(FUS):c.253C>T (p.Gln85Ter) VARIANT_IN_GENE FUS -> FUS GENE_ANNOTATED_WITH_GO_TERM regulation of DNA-templated transcription -> CEBPA GENE_ANNOTATED_WITH_GO_TERM regulation of DNA-templated transcription -> CEBPA PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH FLT3 -> FLT3 GENE_PARTICIPATES_IN_PATHWAY FLT3 signaling th... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "FUS",
"source_db": "UniProt",
"payload": {
"accession": "P35637",
"sequence": "MASNDYTQQATQSYGAYPTQPGQGYSQQSSQPYGQQSYSGYSQSTDTSGYGQSSYSSYGQSQNTGYGTQSTPQGYGSTGGYGSSQSSQSSYGQQSSYPGYGQQPAPSSTSGSYGSSSQSSSYGQPQSGSYSQQPS... | [
{
"source_db": "ClinVar",
"source_id": "FUS",
"text": "NM_004960.4(FUS):c.253C>T (p.Gln85Ter) VARIANT_IN_GENE FUS",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0006355",
"text": "FUS GENE_ANNOTATED_WITH_GO_TERM regulation of DNA-templated transcription",
"confidence"... | {
"variant": "NM_004960.4(FUS):c.253C>T (p.Gln85Ter)",
"pathway": "FLT3 signaling through SRC family kinases"
} | 0.812072 |
co_mech_00237 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NC_000006.12:g.(?_162411708)_(162476625_?)del affects the ceritinib-resistant ALK mutants pathway, citing each molecular step. | NC_000006.12:g.(?_162411708)_(162476625_?)del VARIANT_IN_GENE PRKN -> PRKN GENE_ANNOTATED_WITH_GO_TERM positive regulation of gene expression -> KRAS GENE_ANNOTATED_WITH_GO_TERM positive regulation of gene expression -> ALK PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH KRAS -> ALK GENE_PARTICIPATES_IN_PATHWAY ceritinib-resistan... | {
"steps": [
{
"hop": 1,
"source_node_id": "NC_000006.12:g.(?_162411708)_(162476625_?)del",
"source_node_type": "VARIANT",
"source_node_label": "NC_000006.12:g.(?_162411708)_(162476625_?)del",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_conf... | NC_000006.12:g.(?_162411708)_(162476625_?)del VARIANT_IN_GENE PRKN -> PRKN GENE_ANNOTATED_WITH_GO_TERM positive regulation of gene expression -> KRAS GENE_ANNOTATED_WITH_GO_TERM positive regulation of gene expression -> ALK PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH KRAS -> ALK GENE_PARTICIPATES_IN_PATHWAY ceritinib-resistan... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PRKN",
"source_db": "UniProt",
"payload": {
"accession": "O60260",
"sequence": "MIVFVRFNSSHGFPVEVDSDTSIFQLKEVVAKRQGVPADQLRVIFAGKELRNDWTVQNCDLDQQSIVHIVQRPWRKGQEMNATGGDDPRNAAGGCEREPQSLTRVDLSSSVLPGDSVGLAVILHTDSRKDSPPA... | [
{
"source_db": "ClinVar",
"source_id": "PRKN",
"text": "NC_000006.12:g.(?_162411708)_(162476625_?)del VARIANT_IN_GENE PRKN",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0010628",
"text": "PRKN GENE_ANNOTATED_WITH_GO_TERM positive regulation of gene expression",
"conf... | {
"variant": "NC_000006.12:g.(?_162411708)_(162476625_?)del",
"pathway": "ceritinib-resistant ALK mutants"
} | 0.813392 |
co_mech_00238 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_001903.5(CTNNA1):c.1074del (p.Glu359fs) affects the Amyloid fiber formation pathway, citing each molecular step. | NM_001903.5(CTNNA1):c.1074del (p.Glu359fs) VARIANT_IN_GENE CTNNA1 -> CTNNA1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH CDH1 -> CDH1 GENE_PARTICIPATES_IN_PATHWAY Degradation of the extracellular matrix -> ADAM10 GENE_PARTICIPATES_IN_PATHWAY Degradation of the extracellular matrix -> ADAM10 GENE_PARTICIPATES_IN_PATHWAY Amyloid... | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_001903.5(CTNNA1):c.1074del (p.Glu359fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_001903.5(CTNNA1):c.1074del (p.Glu359fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence... | NM_001903.5(CTNNA1):c.1074del (p.Glu359fs) VARIANT_IN_GENE CTNNA1 -> CTNNA1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH CDH1 -> CDH1 GENE_PARTICIPATES_IN_PATHWAY Degradation of the extracellular matrix -> ADAM10 GENE_PARTICIPATES_IN_PATHWAY Degradation of the extracellular matrix -> ADAM10 GENE_PARTICIPATES_IN_PATHWAY Amyloid... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CTNNA1",
"source_db": "UniProt",
"payload": {
"accession": "P35221",
"sequence": "MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAASVEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAARALL... | [
{
"source_db": "ClinVar",
"source_id": "CTNNA1",
"text": "NM_001903.5(CTNNA1):c.1074del (p.Glu359fs) VARIANT_IN_GENE CTNNA1",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "CDH1",
"text": "CTNNA1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH CDH1",
"confidence": 0.999
},
{
... | {
"variant": "NM_001903.5(CTNNA1):c.1074del (p.Glu359fs)",
"pathway": "Amyloid fiber formation"
} | 0.9998 |
co_mech_00239 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000038.6(APC):c.1984del(p.Leu662fs) affects the IL-6-type cytokine receptor ligand interactions pathway, citing each molecular step. | NM_000038.6(APC):c.1984del(p.Leu662fs) VARIANT_HAS_VEP_CONSEQUENCE APC -> APC GENE_ANNOTATED_WITH_GO_TERM protein kinase binding -> JAK2 GENE_ANNOTATED_WITH_GO_TERM protein kinase binding -> JAK2 GENE_PARTICIPATES_IN_PATHWAY IL-6-type cytokine receptor ligand interactions | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000038.6(APC):c.1984del(p.Leu662fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000038.6(APC):c.1984del(p.Leu662fs)",
"edge_relation": "VARIANT_HAS_VEP_CONSEQUENCE",
"edge_evidence_type": "computational_prediction",
... | NM_000038.6(APC):c.1984del(p.Leu662fs) VARIANT_HAS_VEP_CONSEQUENCE APC -> APC GENE_ANNOTATED_WITH_GO_TERM protein kinase binding -> JAK2 GENE_ANNOTATED_WITH_GO_TERM protein kinase binding -> JAK2 GENE_PARTICIPATES_IN_PATHWAY IL-6-type cytokine receptor ligand interactions | null | [
"expression",
"protein_sequence",
"protein_structure",
"snp_sequence"
] | [
{
"family": "sequence",
"tag": "snp_sequence",
"anchor_node_id": "NM_000038.6(APC):c.1984del(p.Leu662fs)",
"source_db": "Ensembl",
"payload": {
"chrom": "5",
"pos": 112837578,
"ref_allele": "C",
"alt_allele": "-",
"ref_context": "TTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAA... | [
{
"source_db": "Ensembl_VEP",
"source_id": "APC",
"text": "NM_000038.6(APC):c.1984del(p.Leu662fs) VARIANT_HAS_VEP_CONSEQUENCE APC",
"confidence": 0.95
},
{
"source_db": "GO",
"source_id": "GO:0019901",
"text": "APC GENE_ANNOTATED_WITH_GO_TERM protein kinase binding",
"confidence"... | {
"variant": "NM_000038.6(APC):c.1984del(p.Leu662fs)",
"pathway": "IL-6-type cytokine receptor ligand interactions"
} | 0.764727 |
co_mech_00240 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_023110.3(FGFR1):c.280_283del (p.Ala94fs) affects the Cdc20:Phospho-APC/C mediated degradation of Cyclin A pathway, citing each molecular step. | NM_023110.3(FGFR1):c.280_283del (p.Ala94fs) VARIANT_IN_GENE FGFR1 -> FGFR1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> BUB1B GENE_ANNOTATED_WITH_GO_TERM ATP binding -> BUB1B GENE_PARTICIPATES_IN_PATHWAY Cdc20:Phospho-APC/C mediated degradation of Cyclin A | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_023110.3(FGFR1):c.280_283del (p.Ala94fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_023110.3(FGFR1):c.280_283del (p.Ala94fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confiden... | NM_023110.3(FGFR1):c.280_283del (p.Ala94fs) VARIANT_IN_GENE FGFR1 -> FGFR1 GENE_ANNOTATED_WITH_GO_TERM ATP binding -> BUB1B GENE_ANNOTATED_WITH_GO_TERM ATP binding -> BUB1B GENE_PARTICIPATES_IN_PATHWAY Cdc20:Phospho-APC/C mediated degradation of Cyclin A | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "FGFR1",
"source_db": "UniProt",
"payload": {
"accession": "P11362",
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDD... | [
{
"source_db": "ClinVar",
"source_id": "FGFR1",
"text": "NM_023110.3(FGFR1):c.280_283del (p.Ala94fs) VARIANT_IN_GENE FGFR1",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0005524",
"text": "FGFR1 GENE_ANNOTATED_WITH_GO_TERM ATP binding",
"confidence": 0.6
},
{
... | {
"variant": "NM_023110.3(FGFR1):c.280_283del (p.Ala94fs)",
"pathway": "Cdc20:Phospho-APC/C mediated degradation of Cyclin A"
} | 0.774597 |
co_mech_00241 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_170606.3(KMT2C):c.7431del (p.His2478fs) affects the mRNA Splicing - Major Pathway pathway, citing each molecular step. | NM_170606.3(KMT2C):c.7431del (p.His2478fs) VARIANT_IN_GENE KMT2C -> KMT2C GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> FUS GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> FUS GENE_PARTICIPATES_IN_PATHWAY mRNA Splicing - Major Pathway | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_170606.3(KMT2C):c.7431del (p.His2478fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_170606.3(KMT2C):c.7431del (p.His2478fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence... | NM_170606.3(KMT2C):c.7431del (p.His2478fs) VARIANT_IN_GENE KMT2C -> KMT2C GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> FUS GENE_ANNOTATED_WITH_GO_TERM zinc ion binding -> FUS GENE_PARTICIPATES_IN_PATHWAY mRNA Splicing - Major Pathway | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "KMT2C",
"source_db": "UniProt",
"payload": {
"accession": "Q8NEZ4",
"sequence": "MSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIKEQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQL... | [
{
"source_db": "ClinVar",
"source_id": "KMT2C",
"text": "NM_170606.3(KMT2C):c.7431del (p.His2478fs) VARIANT_IN_GENE KMT2C",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0008270",
"text": "KMT2C GENE_ANNOTATED_WITH_GO_TERM zinc ion binding",
"confidence": 0.6
},
{
... | {
"variant": "NM_170606.3(KMT2C):c.7431del (p.His2478fs)",
"pathway": "mRNA Splicing - Major Pathway"
} | 0.774597 |
co_mech_00242 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000059.4(BRCA2):c.7363dup (p.His2455fs) affects the Regulation of TP53 Activity through Association with Co-factors pathway, citing each molecular step. | NM_000059.4(BRCA2):c.7363dup (p.His2455fs) VARIANT_IN_GENE BRCA2 -> BRCA2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRCA1 -> BRCA1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> TP53 GENE_PARTICIPATES_IN_PATHWAY Regulation of TP53 Activity through Association with Co-factors | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000059.4(BRCA2):c.7363dup (p.His2455fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000059.4(BRCA2):c.7363dup (p.His2455fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence... | NM_000059.4(BRCA2):c.7363dup (p.His2455fs) VARIANT_IN_GENE BRCA2 -> BRCA2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRCA1 -> BRCA1 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH TP53 -> TP53 GENE_PARTICIPATES_IN_PATHWAY Regulation of TP53 Activity through Association with Co-factors | null | [
"expression",
"intercell_role",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRCA2",
"source_db": "UniProt",
"payload": {
"accession": "P51587",
"sequence": "MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEESEHKNNNYEPNLFKTPQRKPSYNQLASTPIIFKEQGLTLPLYQSPVKELDKFKLDLGRNVPNSRHKSLRTVKTKMDQADDVSCP... | [
{
"source_db": "ClinVar",
"source_id": "BRCA2",
"text": "NM_000059.4(BRCA2):c.7363dup (p.His2455fs) VARIANT_IN_GENE BRCA2",
"confidence": 1
},
{
"source_db": "STRING",
"source_id": "BRCA1",
"text": "BRCA2 PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH BRCA1",
"confidence": 0.999
},
{
... | {
"variant": "NM_000059.4(BRCA2):c.7363dup (p.His2455fs)",
"pathway": "Regulation of TP53 Activity through Association with Co-factors"
} | 0.9995 |
co_mech_00243 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) affects the Phosphorylation of CD3 and TCR zeta chains pathway, citing each molecular step. | NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) VARIANT_IN_GENE BLM -> BLM GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity -> CD4 GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity -> CD4 GENE_PARTICIPATES_IN_PATHWAY Phosphorylation of CD3 and TCR zeta chains | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) VARIANT_IN_GENE BLM -> BLM GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity -> CD4 GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity -> CD4 GENE_PARTICIPATES_IN_PATHWAY Phosphorylation of CD3 and TCR zeta chains | null | [
"conservation",
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "evolutionary",
"tag": "conservation",
"anchor_node_id": "NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)",
"source_db": "UCSC_phyloP",
"payload": {
"chrom": "chr15",
"pos": 90809249,
"track": "phyloP100way",
"window": 20,
"scores": [
1.835799999999999... | [
{
"source_db": "ClinVar",
"source_id": "BLM",
"text": "NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) VARIANT_IN_GENE BLM",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0042803",
"text": "BLM GENE_ANNOTATED_WITH_GO_TERM protein homodimerization activity",
"confidence": 0.6... | {
"variant": "NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)",
"pathway": "Phosphorylation of CD3 and TCR zeta chains"
} | 0.774597 |
co_mech_00244 | mechanistic_explanation | coding_variant | hard | 5 | Explain the molecular mechanism by which NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) affects the HCMV Late Events pathway, citing each molecular step. | NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) VARIANT_IN_GENE MSH2 -> MSH2 GENE_ANNOTATED_WITH_GO_TERM negative regulation of neuron apoptotic process -> GRN GENE_ANNOTATED_WITH_GO_TERM negative regulation of neuron apoptotic process -> GRN PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH CHMP2B -> CHMP2B GENE_PARTICIPATES_IN_PATHWAY ... | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) VARIANT_IN_GENE MSH2 -> MSH2 GENE_ANNOTATED_WITH_GO_TERM negative regulation of neuron apoptotic process -> GRN GENE_ANNOTATED_WITH_GO_TERM negative regulation of neuron apoptotic process -> GRN PROTEIN_FUNCTIONALLY_ASSOCIATED_WITH CHMP2B -> CHMP2B GENE_PARTICIPATES_IN_PATHWAY ... | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "MSH2",
"source_db": "UniProt",
"payload": {
"accession": "P43246",
"sequence": "MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDI... | [
{
"source_db": "ClinVar",
"source_id": "MSH2",
"text": "NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) VARIANT_IN_GENE MSH2",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0043524",
"text": "MSH2 GENE_ANNOTATED_WITH_GO_TERM negative regulation of neuron apoptotic process",
... | {
"variant": "NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)",
"pathway": "HCMV Late Events"
} | 0.784044 |
co_mech_00245 | mechanistic_explanation | coding_variant | hard | 4 | Explain the molecular mechanism by which NM_000314.8(PTEN):c.873_880dup (p.Ser294fs) affects the Myogenesis pathway, citing each molecular step. | NM_000314.8(PTEN):c.873_880dup (p.Ser294fs) VARIANT_IN_GENE PTEN -> PTEN GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation -> CTNNB1 GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation -> CTNNB1 GENE_PARTICIPATES_IN_PATHWAY Myogenesis | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000314.8(PTEN):c.873_880dup (p.Ser294fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000314.8(PTEN):c.873_880dup (p.Ser294fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confiden... | NM_000314.8(PTEN):c.873_880dup (p.Ser294fs) VARIANT_IN_GENE PTEN -> PTEN GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation -> CTNNB1 GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation -> CTNNB1 GENE_PARTICIPATES_IN_PATHWAY Myogenesis | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PTEN",
"source_db": "UniProt",
"payload": {
"accession": "P60484",
"sequence": "MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVM... | [
{
"source_db": "ClinVar",
"source_id": "PTEN",
"text": "NM_000314.8(PTEN):c.873_880dup (p.Ser294fs) VARIANT_IN_GENE PTEN",
"confidence": 1
},
{
"source_db": "GO",
"source_id": "GO:0008285",
"text": "PTEN GENE_ANNOTATED_WITH_GO_TERM negative regulation of cell population proliferation... | {
"variant": "NM_000314.8(PTEN):c.873_880dup (p.Ser294fs)",
"pathway": "Myogenesis"
} | 0.774597 |
co_evid_00000 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between C9orf72 and PYGL? | C9orf72 GENE_ENCODES_PROTEIN C9orf72 -> C9orf72 PROTEIN_PHYSICALLY_INTERACTS_WITH PYGL -> PYGL GENE_ENCODES_PROTEIN PYGL | {
"steps": [
{
"hop": 1,
"source_node_id": "C9orf72",
"source_node_type": "GENE",
"source_node_label": "C9orf72",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "... | PMID:37317656 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "C9orf72",
"source_db": "UniProt",
"payload": {
"accession": "Q96LT7",
"sequence": "MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVC... | [
{
"source_db": "bridge",
"source_id": "203228",
"text": "C9orf72 GENE_ENCODES_PROTEIN C9orf72",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "5836",
"text": "C9orf72 PROTEIN_PHYSICALLY_INTERACTS_WITH PYGL",
"confidence": 0.9
},
{
"source_db": "bridge",
... | {
"protein_a": "C9orf72",
"protein_b": "PYGL",
"pmid": "37317656",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00001 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between CDK1 and USP14? | CDK1 GENE_ENCODES_PROTEIN CDK1 -> CDK1 PROTEIN_PHYSICALLY_INTERACTS_WITH USP14 -> USP14 GENE_ENCODES_PROTEIN USP14 | {
"steps": [
{
"hop": 1,
"source_node_id": "CDK1",
"source_node_type": "GENE",
"source_node_label": "CDK1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "983",
... | PMID:36604147 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CDK1",
"source_db": "UniProt",
"payload": {
"accession": "P06493",
"sequence": "MEDYTKIEKIGEGTYGVVYKGRHKTTGQVVAMKKIRLESEEEGVPSTAIREISLLKELRHPNIVSLQDVLMQDSRLYLIFEFLSMDLKKYLDSIPPGQYMDSSLVKSYLYQILQGIVFCHSRRVLHRDLKPQNL... | [
{
"source_db": "bridge",
"source_id": "983",
"text": "CDK1 GENE_ENCODES_PROTEIN CDK1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "9097",
"text": "CDK1 PROTEIN_PHYSICALLY_INTERACTS_WITH USP14",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id"... | {
"protein_a": "CDK1",
"protein_b": "USP14",
"pmid": "36604147",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00002 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between SNCA and AP1B1? | SNCA GENE_ENCODES_PROTEIN SNCA -> SNCA PROTEIN_PHYSICALLY_INTERACTS_WITH AP1B1 -> AP1B1 GENE_ENCODES_PROTEIN AP1B1 | {
"steps": [
{
"hop": 1,
"source_node_id": "SNCA",
"source_node_type": "GENE",
"source_node_label": "SNCA",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "6622",... | PMID:18614564 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "SNCA",
"source_db": "UniProt",
"payload": {
"accession": "P37840",
"sequence": "MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQKTVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMPSEEGYQ... | [
{
"source_db": "bridge",
"source_id": "6622",
"text": "SNCA GENE_ENCODES_PROTEIN SNCA",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "162",
"text": "SNCA PROTEIN_PHYSICALLY_INTERACTS_WITH AP1B1",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id"... | {
"protein_a": "SNCA",
"protein_b": "AP1B1",
"pmid": "18614564",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00003 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between VPS4B and CHMP2B? | VPS4B GENE_ENCODES_PROTEIN VPS4B -> VPS4B PROTEIN_PHYSICALLY_INTERACTS_WITH CHMP2B -> CHMP2B GENE_ENCODES_PROTEIN CHMP2B | {
"steps": [
{
"hop": 1,
"source_node_id": "VPS4B",
"source_node_type": "GENE",
"source_node_label": "VPS4B",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "9525... | PMID:37005481 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CHMP2B",
"source_db": "UniProt",
"payload": {
"accession": "Q9UQN3",
"sequence": "MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTTAKTMQAVNKKMDPQKTLQTMQNFQKEN... | [
{
"source_db": "bridge",
"source_id": "9525",
"text": "VPS4B GENE_ENCODES_PROTEIN VPS4B",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "25978",
"text": "VPS4B PROTEIN_PHYSICALLY_INTERACTS_WITH CHMP2B",
"confidence": 0.9
},
{
"source_db": "bridge",
"sour... | {
"protein_a": "VPS4B",
"protein_b": "CHMP2B",
"pmid": "37005481",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00004 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between BCOR and ZBTB5? | BCOR GENE_ENCODES_PROTEIN BCOR -> BCOR PROTEIN_PHYSICALLY_INTERACTS_WITH ZBTB5 -> ZBTB5 GENE_ENCODES_PROTEIN ZBTB5 | {
"steps": [
{
"hop": 1,
"source_node_id": "BCOR",
"source_node_type": "GENE",
"source_node_label": "BCOR",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "54880"... | PMID:19491398 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BCOR",
"source_db": "UniProt",
"payload": {
"accession": "Q6W2J9",
"sequence": "MLSATPLYGNVHSWMNSERVRMCGASEDRKILVNDGDASKARLELREENPLNHNVVDASTAHRIDGLAALSMDRTGLIREGLRVPGNIVYSSLCGLGSEKGREAATSTLGGLGFSSERNPEMQFKPNTPETVEA... | [
{
"source_db": "bridge",
"source_id": "54880",
"text": "BCOR GENE_ENCODES_PROTEIN BCOR",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "9925",
"text": "BCOR PROTEIN_PHYSICALLY_INTERACTS_WITH ZBTB5",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_i... | {
"protein_a": "BCOR",
"protein_b": "ZBTB5",
"pmid": "19491398",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00005 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between SOX2 and HNRNPH2? | SOX2 GENE_ENCODES_PROTEIN SOX2 -> SOX2 PROTEIN_PHYSICALLY_INTERACTS_WITH HNRNPH2 -> HNRNPH2 GENE_ENCODES_PROTEIN HNRNPH2 | {
"steps": [
{
"hop": 1,
"source_node_id": "SOX2",
"source_node_type": "GENE",
"source_node_label": "SOX2",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "6657",... | PMID:34732716 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "SOX2",
"source_db": "UniProt",
"payload": {
"accession": "P48431",
"sequence": "MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWKLLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLMKKDKYTLPGGLLAP... | [
{
"source_db": "bridge",
"source_id": "6657",
"text": "SOX2 GENE_ENCODES_PROTEIN SOX2",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "3188",
"text": "SOX2 PROTEIN_PHYSICALLY_INTERACTS_WITH HNRNPH2",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_... | {
"protein_a": "SOX2",
"protein_b": "HNRNPH2",
"pmid": "34732716",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00006 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between DCTN1 and CTIF? | DCTN1 GENE_ENCODES_PROTEIN DCTN1 -> DCTN1 PROTEIN_PHYSICALLY_INTERACTS_WITH CTIF -> CTIF GENE_ENCODES_PROTEIN CTIF | {
"steps": [
{
"hop": 1,
"source_node_id": "DCTN1",
"source_node_type": "GENE",
"source_node_label": "DCTN1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "1639... | PMID:33783327 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "DCTN1",
"source_db": "UniProt",
"payload": {
"accession": "Q14203",
"sequence": "MAQSKRHVYSRTPSGSRMSAEASARPLRVGSRVEVIGKGHRGTVAYVGATLFATGKWVGVILDEAKGKNDGTVQGRKYFTCDEGHGIFVRQSQIQVFEDGADTTSPETPDSSASKVLKREGTDTTAKTSKLRG... | [
{
"source_db": "bridge",
"source_id": "1639",
"text": "DCTN1 GENE_ENCODES_PROTEIN DCTN1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "9811",
"text": "DCTN1 PROTEIN_PHYSICALLY_INTERACTS_WITH CTIF",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_... | {
"protein_a": "DCTN1",
"protein_b": "CTIF",
"pmid": "33783327",
"experiment": "Reconstituted Complex"
} | 0.9 |
co_evid_00007 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between CCNB1 and CDKN1A? | CCNB1 GENE_ENCODES_PROTEIN CCNB1 -> CCNB1 PROTEIN_PHYSICALLY_INTERACTS_WITH CDKN1A -> CDKN1A GENE_ENCODES_PROTEIN CDKN1A | {
"steps": [
{
"hop": 1,
"source_node_id": "CCNB1",
"source_node_type": "PROTEIN",
"source_node_label": "CCNB1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "8... | PMID:17679094 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CDKN1A",
"source_db": "UniProt",
"payload": {
"accession": "P38936",
"sequence": "MSEPAGDVRQNPCGSKACRRLFGPVDSEQLSRDCDALMAGCIQEARERWNFDFVTETPLEGDFAWERVRGLGLPKLYLPTGPRRGRDELGGGRRPGTSPALLQGTAEEDHVDLSLSCTLVPRSGEQAEGSPG... | [
{
"source_db": "bridge",
"source_id": "891",
"text": "CCNB1 GENE_ENCODES_PROTEIN CCNB1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "1026",
"text": "CCNB1 PROTEIN_PHYSICALLY_INTERACTS_WITH CDKN1A",
"confidence": 0.9
},
{
"source_db": "bridge",
"source... | {
"protein_a": "CCNB1",
"protein_b": "CDKN1A",
"pmid": "17679094",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00008 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between LRRC4 and MAPK1? | LRRC4 GENE_ENCODES_PROTEIN LRRC4 -> LRRC4 PROTEIN_PHYSICALLY_INTERACTS_WITH MAPK1 -> MAPK1 GENE_ENCODES_PROTEIN MAPK1 | {
"steps": [
{
"hop": 1,
"source_node_id": "LRRC4",
"source_node_type": "GENE",
"source_node_label": "LRRC4",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "6410... | PMID:27884160 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "MAPK1",
"source_db": "UniProt",
"payload": {
"accession": "P28482",
"sequence": "MAAAAAAGAGPEMVRGQVFDVGPRYTNLSYIGEGAYGMVCSAYDNVNKVRVAIKKISPFEHQTYCQRTLREIKILLRFRHENIIGINDIIRAPTIEQMKDVYIVQDLMETDLYKLLKTQHLSNDHICYFLYQI... | [
{
"source_db": "bridge",
"source_id": "64101",
"text": "LRRC4 GENE_ENCODES_PROTEIN LRRC4",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "5594",
"text": "LRRC4 PROTEIN_PHYSICALLY_INTERACTS_WITH MAPK1",
"confidence": 0.9
},
{
"source_db": "bridge",
"sourc... | {
"protein_a": "LRRC4",
"protein_b": "MAPK1",
"pmid": "27884160",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00009 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between C9orf72 and IDH3G? | C9orf72 GENE_ENCODES_PROTEIN C9orf72 -> C9orf72 PROTEIN_PHYSICALLY_INTERACTS_WITH IDH3G -> IDH3G GENE_ENCODES_PROTEIN IDH3G | {
"steps": [
{
"hop": 1,
"source_node_id": "C9orf72",
"source_node_type": "GENE",
"source_node_label": "C9orf72",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "... | PMID:37317656 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "C9orf72",
"source_db": "UniProt",
"payload": {
"accession": "Q96LT7",
"sequence": "MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVC... | [
{
"source_db": "bridge",
"source_id": "203228",
"text": "C9orf72 GENE_ENCODES_PROTEIN C9orf72",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "3421",
"text": "C9orf72 PROTEIN_PHYSICALLY_INTERACTS_WITH IDH3G",
"confidence": 0.9
},
{
"source_db": "bridge",
... | {
"protein_a": "C9orf72",
"protein_b": "IDH3G",
"pmid": "37317656",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00010 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between PPP1CB and AURKA? | PPP1CB GENE_ENCODES_PROTEIN PPP1CB -> PPP1CB PROTEIN_PHYSICALLY_INTERACTS_WITH AURKA -> AURKA GENE_ENCODES_PROTEIN AURKA | {
"steps": [
{
"hop": 1,
"source_node_id": "PPP1CB",
"source_node_type": "PROTEIN",
"source_node_label": "PPP1CB",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": ... | PMID:11551964 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "AURKA",
"source_db": "UniProt",
"payload": {
"accession": "O14965",
"sequence": "MDRSKENCISGPVKATAPVGGPKRVLVTQQFPCQNPLPVNSGQAQRVLCPSNSSQRIPLQAQKLVSSHKPVQNQKQKQLQATSVPHPVSRPLNNTQKSKQPLPSAPENNPEEELASKQKNEESKKRQWALEDF... | [
{
"source_db": "bridge",
"source_id": "5500",
"text": "PPP1CB GENE_ENCODES_PROTEIN PPP1CB",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "6790",
"text": "PPP1CB PROTEIN_PHYSICALLY_INTERACTS_WITH AURKA",
"confidence": 0.9
},
{
"source_db": "bridge",
"sou... | {
"protein_a": "PPP1CB",
"protein_b": "AURKA",
"pmid": "11551964",
"experiment": "Reconstituted Complex"
} | 0.9 |
co_evid_00011 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between NRAS and VPS51? | NRAS GENE_ENCODES_PROTEIN NRAS -> NRAS PROTEIN_PHYSICALLY_INTERACTS_WITH VPS51 -> VPS51 GENE_ENCODES_PROTEIN VPS51 | {
"steps": [
{
"hop": 1,
"source_node_id": "NRAS",
"source_node_type": "GENE",
"source_node_label": "NRAS",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "4893",... | PMID:30639242 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "NRAS",
"source_db": "UniProt",
"payload": {
"accession": "P01111",
"sequence": "MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLCVFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELA... | [
{
"source_db": "bridge",
"source_id": "4893",
"text": "NRAS GENE_ENCODES_PROTEIN NRAS",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "738",
"text": "NRAS PROTEIN_PHYSICALLY_INTERACTS_WITH VPS51",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id"... | {
"protein_a": "NRAS",
"protein_b": "VPS51",
"pmid": "30639242",
"experiment": "Negative Genetic"
} | 0.9 |
co_evid_00012 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between HDAC1 and PARK7? | HDAC1 GENE_ENCODES_PROTEIN HDAC1 -> HDAC1 PROTEIN_PHYSICALLY_INTERACTS_WITH PARK7 -> PARK7 GENE_ENCODES_PROTEIN PARK7 | {
"steps": [
{
"hop": 1,
"source_node_id": "HDAC1",
"source_node_type": "PROTEIN",
"source_node_label": "HDAC1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "3... | PMID:20127688 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PARK7",
"source_db": "UniProt",
"payload": {
"accession": "Q99497",
"sequence": "MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQNLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKM... | [
{
"source_db": "bridge",
"source_id": "3065",
"text": "HDAC1 GENE_ENCODES_PROTEIN HDAC1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "11315",
"text": "HDAC1 PROTEIN_PHYSICALLY_INTERACTS_WITH PARK7",
"confidence": 0.9
},
{
"source_db": "bridge",
"sourc... | {
"protein_a": "HDAC1",
"protein_b": "PARK7",
"pmid": "20127688",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00013 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between BRCA2 and MYH14? | BRCA2 GENE_ENCODES_PROTEIN BRCA2 -> BRCA2 PROTEIN_PHYSICALLY_INTERACTS_WITH MYH14 -> MYH14 GENE_ENCODES_PROTEIN MYH14 | {
"steps": [
{
"hop": 1,
"source_node_id": "BRCA2",
"source_node_type": "GENE",
"source_node_label": "BRCA2",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "675"... | PMID:24448238 | null | [
"expression",
"protein_sequence"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRCA2",
"source_db": "UniProt",
"payload": {
"accession": "P51587",
"sequence": "MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEESEHKNNNYEPNLFKTPQRKPSYNQLASTPIIFKEQGLTLPLYQSPVKELDKFKLDLGRNVPNSRHKSLRTVKTKMDQADDVSCP... | [
{
"source_db": "bridge",
"source_id": "675",
"text": "BRCA2 GENE_ENCODES_PROTEIN BRCA2",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "79784",
"text": "BRCA2 PROTEIN_PHYSICALLY_INTERACTS_WITH MYH14",
"confidence": 0.9
},
{
"source_db": "bridge",
"source... | {
"protein_a": "BRCA2",
"protein_b": "MYH14",
"pmid": "24448238",
"experiment": "Co-fractionation"
} | 0.9 |
co_evid_00014 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between ERBB2 and PIN1? | ERBB2 GENE_ENCODES_PROTEIN ERBB2 -> ERBB2 PROTEIN_PHYSICALLY_INTERACTS_WITH PIN1 -> PIN1 GENE_ENCODES_PROTEIN PIN1 | {
"steps": [
{
"hop": 1,
"source_node_id": "ERBB2",
"source_node_type": "GENE",
"source_node_label": "ERBB2",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "2064... | PMID:19077306 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "ERBB2",
"source_db": "UniProt",
"payload": {
"accession": "P04626",
"sequence": "MELAALCRWGLLLALLPPGAASTQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFEDNYALAVLDNGDPLNNTTPVTGAS... | [
{
"source_db": "bridge",
"source_id": "2064",
"text": "ERBB2 GENE_ENCODES_PROTEIN ERBB2",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "5300",
"text": "ERBB2 PROTEIN_PHYSICALLY_INTERACTS_WITH PIN1",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_... | {
"protein_a": "ERBB2",
"protein_b": "PIN1",
"pmid": "19077306",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00015 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between FLT3 and PTPN11? | FLT3 GENE_ENCODES_PROTEIN FLT3 -> FLT3 PROTEIN_PHYSICALLY_INTERACTS_WITH PTPN11 -> PTPN11 GENE_ENCODES_PROTEIN PTPN11 | {
"steps": [
{
"hop": 1,
"source_node_id": "FLT3",
"source_node_type": "GENE",
"source_node_label": "FLT3",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "2322",... | PMID:16684964 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "FLT3",
"source_db": "UniProt",
"payload": {
"accession": "P36888",
"sequence": "MPALARDGGQLPLLVVFSAMIFGTITNQDLPVIKCVLINHKNNDSSVGKSSSYPMVSESPEDLGCALRPQSSGTVYEAAAVEVDVSASITLQVLVDAPGNISCLWVFKHSSLNCQPHFDLQNRGVVSMVILKMT... | [
{
"source_db": "bridge",
"source_id": "2322",
"text": "FLT3 GENE_ENCODES_PROTEIN FLT3",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "5781",
"text": "FLT3 PROTEIN_PHYSICALLY_INTERACTS_WITH PTPN11",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_i... | {
"protein_a": "FLT3",
"protein_b": "PTPN11",
"pmid": "16684964",
"experiment": "Reconstituted Complex"
} | 0.9 |
co_evid_00016 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between JAK2 and STAT1? | JAK2 GENE_ENCODES_PROTEIN JAK2 -> JAK2 PROTEIN_PHYSICALLY_INTERACTS_WITH STAT1 -> STAT1 GENE_ENCODES_PROTEIN STAT1 | {
"steps": [
{
"hop": 1,
"source_node_id": "JAK2",
"source_node_type": "GENE",
"source_node_label": "JAK2",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "3717",... | PMID:20353823 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "JAK2",
"source_db": "UniProt",
"payload": {
"accession": "O60674",
"sequence": "MGMACLTMTEMEGTSTSSIYQNGDISGNANSMKQIDPVLQVYLYHSLGKSEADYLTFPSGEYVAEEICIAASKACGITPVYHNMFALMSETERIWYPPNHVFHIDESTRHNVLYRIRFYFPRWYCSGSNRAYRH... | [
{
"source_db": "bridge",
"source_id": "3717",
"text": "JAK2 GENE_ENCODES_PROTEIN JAK2",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "6772",
"text": "JAK2 PROTEIN_PHYSICALLY_INTERACTS_WITH STAT1",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id... | {
"protein_a": "JAK2",
"protein_b": "STAT1",
"pmid": "20353823",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00017 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between RHOD and EGFR? | RHOD GENE_ENCODES_PROTEIN RHOD -> RHOD PROTEIN_PHYSICALLY_INTERACTS_WITH EGFR -> EGFR GENE_ENCODES_PROTEIN EGFR | {
"steps": [
{
"hop": 1,
"source_node_id": "RHOD",
"source_node_type": "GENE",
"source_node_label": "RHOD",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "29984"... | PMID:31871319 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "EGFR",
"source_db": "UniProt",
"payload": {
"accession": "P00533",
"sequence": "MRPSGTAGAALLALLAALCPASRALEEKKVCQGTSNKLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYDANKTGLKE... | [
{
"source_db": "bridge",
"source_id": "29984",
"text": "RHOD GENE_ENCODES_PROTEIN RHOD",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "1956",
"text": "RHOD PROTEIN_PHYSICALLY_INTERACTS_WITH EGFR",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id... | {
"protein_a": "RHOD",
"protein_b": "EGFR",
"pmid": "31871319",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00018 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between LRRK2 and NEDD4? | LRRK2 GENE_ENCODES_PROTEIN LRRK2 -> LRRK2 PROTEIN_PHYSICALLY_INTERACTS_WITH NEDD4 -> NEDD4 GENE_ENCODES_PROTEIN NEDD4 | {
"steps": [
{
"hop": 1,
"source_node_id": "LRRK2",
"source_node_type": "GENE",
"source_node_label": "LRRK2",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "1208... | PMID:35773961 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "LRRK2",
"source_db": "UniProt",
"payload": {
"accession": "Q5S007",
"sequence": "MASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNIHVPLLIVLDSYMRVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILKMLTVHNASVNLSV... | [
{
"source_db": "bridge",
"source_id": "120892",
"text": "LRRK2 GENE_ENCODES_PROTEIN LRRK2",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "4734",
"text": "LRRK2 PROTEIN_PHYSICALLY_INTERACTS_WITH NEDD4",
"confidence": 0.9
},
{
"source_db": "bridge",
"sour... | {
"protein_a": "LRRK2",
"protein_b": "NEDD4",
"pmid": "35773961",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00019 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between CDC42 and VAPB? | CDC42 GENE_ENCODES_PROTEIN CDC42 -> CDC42 PROTEIN_PHYSICALLY_INTERACTS_WITH VAPB -> VAPB GENE_ENCODES_PROTEIN VAPB | {
"steps": [
{
"hop": 1,
"source_node_id": "CDC42",
"source_node_type": "PROTEIN",
"source_node_label": "CDC42",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "9... | PMID:31871319 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "VAPB",
"source_db": "UniProt",
"payload": {
"accession": "O95292",
"sequence": "MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVSVMLQPFDYDPNEKSKHKFMVQSMFAPTDTSDMEAVWKEAKPEDLMDSKLRCVFELPAENDKPHD... | [
{
"source_db": "bridge",
"source_id": "998",
"text": "CDC42 GENE_ENCODES_PROTEIN CDC42",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "9217",
"text": "CDC42 PROTEIN_PHYSICALLY_INTERACTS_WITH VAPB",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_i... | {
"protein_a": "CDC42",
"protein_b": "VAPB",
"pmid": "31871319",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00020 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between MAPRE1 and STK11? | MAPRE1 GENE_ENCODES_PROTEIN MAPRE1 -> MAPRE1 PROTEIN_PHYSICALLY_INTERACTS_WITH STK11 -> STK11 GENE_ENCODES_PROTEIN STK11 | {
"steps": [
{
"hop": 1,
"source_node_id": "MAPRE1",
"source_node_type": "PROTEIN",
"source_node_label": "MAPRE1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": ... | PMID:24552808 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "STK11",
"source_db": "UniProt",
"payload": {
"accession": "Q15831",
"sequence": "MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVKEVLDSETLCRRAVKILKKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMVMEYCV... | [
{
"source_db": "bridge",
"source_id": "22919",
"text": "MAPRE1 GENE_ENCODES_PROTEIN MAPRE1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "6794",
"text": "MAPRE1 PROTEIN_PHYSICALLY_INTERACTS_WITH STK11",
"confidence": 0.9
},
{
"source_db": "bridge",
"so... | {
"protein_a": "MAPRE1",
"protein_b": "STK11",
"pmid": "24552808",
"experiment": "Two-hybrid"
} | 0.9 |
co_evid_00021 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between KAT2B and PTEN? | KAT2B GENE_ENCODES_PROTEIN KAT2B -> KAT2B PROTEIN_PHYSICALLY_INTERACTS_WITH PTEN -> PTEN GENE_ENCODES_PROTEIN PTEN | {
"steps": [
{
"hop": 1,
"source_node_id": "KAT2B",
"source_node_type": "PROTEIN",
"source_node_label": "KAT2B",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "8... | PMID:16829519 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PTEN",
"source_db": "UniProt",
"payload": {
"accession": "P60484",
"sequence": "MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVM... | [
{
"source_db": "bridge",
"source_id": "8850",
"text": "KAT2B GENE_ENCODES_PROTEIN KAT2B",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "5728",
"text": "KAT2B PROTEIN_PHYSICALLY_INTERACTS_WITH PTEN",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_... | {
"protein_a": "KAT2B",
"protein_b": "PTEN",
"pmid": "16829519",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00022 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between CREBBP and FOS? | CREBBP GENE_ENCODES_PROTEIN CREBBP -> CREBBP PROTEIN_PHYSICALLY_INTERACTS_WITH FOS -> FOS GENE_ENCODES_PROTEIN FOS | {
"steps": [
{
"hop": 1,
"source_node_id": "CREBBP",
"source_node_type": "GENE",
"source_node_label": "CREBBP",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "13... | PMID:11782371 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CREBBP",
"source_db": "UniProt",
"payload": {
"accession": "Q92793",
"sequence": "MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGKSPLSQGDSSAPS... | [
{
"source_db": "bridge",
"source_id": "1387",
"text": "CREBBP GENE_ENCODES_PROTEIN CREBBP",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "2353",
"text": "CREBBP PROTEIN_PHYSICALLY_INTERACTS_WITH FOS",
"confidence": 0.9
},
{
"source_db": "bridge",
"sourc... | {
"protein_a": "CREBBP",
"protein_b": "FOS",
"pmid": "11782371",
"experiment": "Reconstituted Complex"
} | 0.9 |
co_evid_00023 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between ABL1 and DOK1? | ABL1 GENE_ENCODES_PROTEIN ABL1 -> ABL1 PROTEIN_PHYSICALLY_INTERACTS_WITH DOK1 -> DOK1 GENE_ENCODES_PROTEIN DOK1 | {
"steps": [
{
"hop": 1,
"source_node_id": "ABL1",
"source_node_type": "GENE",
"source_node_label": "ABL1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "25",
... | PMID:9008161 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "ABL1",
"source_db": "UniProt",
"payload": {
"accession": "P00519",
"sequence": "MLEICLKLVGCKSKKGLSSSSSCYLEEALQRPVASDFEPQGLSEAARWNSKENLLAGPSENDPNLFVALYDFVASGDNTLSITKGEKLRVLGYNHNGEWCEAQTKNGQGWVPSNYITPVNSLEKHSWYHGPVSR... | [
{
"source_db": "bridge",
"source_id": "25",
"text": "ABL1 GENE_ENCODES_PROTEIN ABL1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "1796",
"text": "ABL1 PROTEIN_PHYSICALLY_INTERACTS_WITH DOK1",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id": ... | {
"protein_a": "ABL1",
"protein_b": "DOK1",
"pmid": "9008161",
"experiment": "Biochemical Activity"
} | 0.9 |
co_evid_00024 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between SPOP and DDX39B? | SPOP GENE_ENCODES_PROTEIN SPOP -> SPOP PROTEIN_PHYSICALLY_INTERACTS_WITH DDX39B -> DDX39B GENE_ENCODES_PROTEIN DDX39B | {
"steps": [
{
"hop": 1,
"source_node_id": "SPOP",
"source_node_type": "GENE",
"source_node_label": "SPOP",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "8405",... | PMID:36604567 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "SPOP",
"source_db": "UniProt",
"payload": {
"accession": "O43791",
"sequence": "MSRVPSPPPPAEMSSGPVAESWCYTQIKVVKFSYMWTINNFSFCREEMGEVIKSSTFSSGANDKLKWCLRVNPKGLDEESKDYLSLYLLLVSCPKSEVRAKFKFSILNAKGEETKAMESQRAYRFVQGKDWGFK... | [
{
"source_db": "bridge",
"source_id": "8405",
"text": "SPOP GENE_ENCODES_PROTEIN SPOP",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "7919",
"text": "SPOP PROTEIN_PHYSICALLY_INTERACTS_WITH DDX39B",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_i... | {
"protein_a": "SPOP",
"protein_b": "DDX39B",
"pmid": "36604567",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00025 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between CD2AP and CD2AP? | CD2AP GENE_ENCODES_PROTEIN CD2AP -> CD2AP PROTEIN_PHYSICALLY_INTERACTS_WITH CD2AP -> CD2AP GENE_ENCODES_PROTEIN CD2AP | {
"steps": [
{
"hop": 1,
"source_node_id": "CD2AP",
"source_node_type": "GENE",
"source_node_label": "CD2AP",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "2360... | PMID:12559036 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CD2AP",
"source_db": "UniProt",
"payload": {
"accession": "Q9Y5K6",
"sequence": "MVDYIVEYDYDAVHDDELTIRVGEIIRNVKKLQEEGWLEGELNGRRGMFPDNFVKEIKRETEFKDDSLPIKRERHGNVASLVQRISTYGLPAGGIQPHPQTKNIKKKTKKRQCKVLFEYIPQNEDELELKVGD... | [
{
"source_db": "bridge",
"source_id": "23607",
"text": "CD2AP GENE_ENCODES_PROTEIN CD2AP",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "23607",
"text": "CD2AP PROTEIN_PHYSICALLY_INTERACTS_WITH CD2AP",
"confidence": 0.9
},
{
"source_db": "bridge",
"sour... | {
"protein_a": "CD2AP",
"protein_b": "CD2AP",
"pmid": "12559036",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00026 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between PARK2 and EGFR? | PARK2 GENE_ENCODES_PROTEIN PARK2 -> PARK2 PROTEIN_PHYSICALLY_INTERACTS_WITH EGFR -> EGFR GENE_ENCODES_PROTEIN EGFR | {
"steps": [
{
"hop": 1,
"source_node_id": "PARK2",
"source_node_type": "GENE",
"source_node_label": "PARK2",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "5071... | PMID:25877876 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "EGFR",
"source_db": "UniProt",
"payload": {
"accession": "P00533",
"sequence": "MRPSGTAGAALLALLAALCPASRALEEKKVCQGTSNKLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYDANKTGLKE... | [
{
"source_db": "bridge",
"source_id": "5071",
"text": "PARK2 GENE_ENCODES_PROTEIN PARK2",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "1956",
"text": "PARK2 PROTEIN_PHYSICALLY_INTERACTS_WITH EGFR",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_... | {
"protein_a": "PARK2",
"protein_b": "EGFR",
"pmid": "25877876",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00027 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between PRKCD and NOTCH1? | PRKCD GENE_ENCODES_PROTEIN PRKCD -> PRKCD PROTEIN_PHYSICALLY_INTERACTS_WITH NOTCH1 -> NOTCH1 GENE_ENCODES_PROTEIN NOTCH1 | {
"steps": [
{
"hop": 1,
"source_node_id": "PRKCD",
"source_node_type": "GENE",
"source_node_label": "PRKCD",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "5580... | PMID:24662486 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "NOTCH1",
"source_db": "UniProt",
"payload": {
"accession": "P46531",
"sequence": "MPPLLAPLLCLALLPALAARGPRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDPNPCLSTPCKNAGTCHVVDRRGVADYACSCALGFSGPLCLTPLDNACLTNPCRNGGTCDLLTLTEYKCRCPPG... | [
{
"source_db": "bridge",
"source_id": "5580",
"text": "PRKCD GENE_ENCODES_PROTEIN PRKCD",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "4851",
"text": "PRKCD PROTEIN_PHYSICALLY_INTERACTS_WITH NOTCH1",
"confidence": 0.9
},
{
"source_db": "bridge",
"sourc... | {
"protein_a": "PRKCD",
"protein_b": "NOTCH1",
"pmid": "24662486",
"experiment": "Biochemical Activity"
} | 0.9 |
co_evid_00028 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between CREBBP and ING1? | CREBBP GENE_ENCODES_PROTEIN CREBBP -> CREBBP PROTEIN_PHYSICALLY_INTERACTS_WITH ING1 -> ING1 GENE_ENCODES_PROTEIN ING1 | {
"steps": [
{
"hop": 1,
"source_node_id": "CREBBP",
"source_node_type": "GENE",
"source_node_label": "CREBBP",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "13... | PMID:12015309 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CREBBP",
"source_db": "UniProt",
"payload": {
"accession": "Q92793",
"sequence": "MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGKSPLSQGDSSAPS... | [
{
"source_db": "bridge",
"source_id": "1387",
"text": "CREBBP GENE_ENCODES_PROTEIN CREBBP",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "3621",
"text": "CREBBP PROTEIN_PHYSICALLY_INTERACTS_WITH ING1",
"confidence": 0.9
},
{
"source_db": "bridge",
"sour... | {
"protein_a": "CREBBP",
"protein_b": "ING1",
"pmid": "12015309",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00029 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between APP and NAE1? | APP GENE_ENCODES_PROTEIN APP -> APP PROTEIN_PHYSICALLY_INTERACTS_WITH NAE1 -> NAE1 GENE_ENCODES_PROTEIN NAE1 | {
"steps": [
{
"hop": 1,
"source_node_id": "APP",
"source_node_type": "GENE",
"source_node_label": "APP",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "351",
... | PMID:8626687 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "APP",
"source_db": "UniProt",
"payload": {
"accession": "P05067",
"sequence": "MLPGLALLLLAAWTARALEVPTDGNAGLLAEPQIAMFCGRLNMHMNVQNGKWDSDPSGTKTCIDTKEGILQYCQEVYPELQITNVVEANQPVTIQNWCKRGRKQCKTHPHFVIPYRCLVGEFVSDALLVPDKCKF... | [
{
"source_db": "bridge",
"source_id": "351",
"text": "APP GENE_ENCODES_PROTEIN APP",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "8883",
"text": "APP PROTEIN_PHYSICALLY_INTERACTS_WITH NAE1",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id": "N... | {
"protein_a": "APP",
"protein_b": "NAE1",
"pmid": "8626687",
"experiment": "Reconstituted Complex"
} | 0.9 |
co_evid_00030 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between BRCA2 and MAGED1? | BRCA2 GENE_ENCODES_PROTEIN BRCA2 -> BRCA2 PROTEIN_PHYSICALLY_INTERACTS_WITH MAGED1 -> MAGED1 GENE_ENCODES_PROTEIN MAGED1 | {
"steps": [
{
"hop": 1,
"source_node_id": "BRCA2",
"source_node_type": "GENE",
"source_node_label": "BRCA2",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "675"... | PMID:15930293 | null | [
"expression",
"protein_sequence"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRCA2",
"source_db": "UniProt",
"payload": {
"accession": "P51587",
"sequence": "MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEESEHKNNNYEPNLFKTPQRKPSYNQLASTPIIFKEQGLTLPLYQSPVKELDKFKLDLGRNVPNSRHKSLRTVKTKMDQADDVSCP... | [
{
"source_db": "bridge",
"source_id": "675",
"text": "BRCA2 GENE_ENCODES_PROTEIN BRCA2",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "9500",
"text": "BRCA2 PROTEIN_PHYSICALLY_INTERACTS_WITH MAGED1",
"confidence": 0.9
},
{
"source_db": "bridge",
"source... | {
"protein_a": "BRCA2",
"protein_b": "MAGED1",
"pmid": "15930293",
"experiment": "Two-hybrid"
} | 0.9 |
co_evid_00031 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between ARHGEF1 and PIK3CA? | ARHGEF1 GENE_ENCODES_PROTEIN ARHGEF1 -> ARHGEF1 PROTEIN_PHYSICALLY_INTERACTS_WITH PIK3CA -> PIK3CA GENE_ENCODES_PROTEIN PIK3CA | {
"steps": [
{
"hop": 1,
"source_node_id": "ARHGEF1",
"source_node_type": "GENE",
"source_node_label": "ARHGEF1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "... | PMID:12754211 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PIK3CA",
"source_db": "UniProt",
"payload": {
"accession": "P42336",
"sequence": "MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAEREEFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVK... | [
{
"source_db": "bridge",
"source_id": "9138",
"text": "ARHGEF1 GENE_ENCODES_PROTEIN ARHGEF1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "5290",
"text": "ARHGEF1 PROTEIN_PHYSICALLY_INTERACTS_WITH PIK3CA",
"confidence": 0.9
},
{
"source_db": "bridge",
... | {
"protein_a": "ARHGEF1",
"protein_b": "PIK3CA",
"pmid": "12754211",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00032 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between NLRP3 and DTX3L? | NLRP3 GENE_ENCODES_PROTEIN NLRP3 -> NLRP3 PROTEIN_PHYSICALLY_INTERACTS_WITH DTX3L -> DTX3L GENE_ENCODES_PROTEIN DTX3L | {
"steps": [
{
"hop": 1,
"source_node_id": "NLRP3",
"source_node_type": "GENE",
"source_node_label": "NLRP3",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "1145... | PMID:36706922 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "NLRP3",
"source_db": "UniProt",
"payload": {
"accession": "Q96P20",
"sequence": "MKMASTRCKLARYLEDLEDVDLKKFKMHLEDYPPQKGCIPLPRGQTEKADHVDLATLMIDFNGEEKAWAMAVWIFAAINRRDLYEKAKRDEPKWGSDNARVSNPTVICQEDSIEEEWMGLLEYLSRISICKMK... | [
{
"source_db": "bridge",
"source_id": "114548",
"text": "NLRP3 GENE_ENCODES_PROTEIN NLRP3",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "151636",
"text": "NLRP3 PROTEIN_PHYSICALLY_INTERACTS_WITH DTX3L",
"confidence": 0.9
},
{
"source_db": "bridge",
"so... | {
"protein_a": "NLRP3",
"protein_b": "DTX3L",
"pmid": "36706922",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00033 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between BRCA1 and MDN1? | BRCA1 GENE_ENCODES_PROTEIN BRCA1 -> BRCA1 PROTEIN_PHYSICALLY_INTERACTS_WITH MDN1 -> MDN1 GENE_ENCODES_PROTEIN MDN1 | {
"steps": [
{
"hop": 1,
"source_node_id": "BRCA1",
"source_node_type": "GENE",
"source_node_label": "BRCA1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "672"... | PMID:34591612 | null | [
"expression",
"intercell_role",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRCA1",
"source_db": "UniProt",
"payload": {
"accession": "P38398",
"sequence": "MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVSIIQSMGYRNR... | [
{
"source_db": "bridge",
"source_id": "672",
"text": "BRCA1 GENE_ENCODES_PROTEIN BRCA1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "23195",
"text": "BRCA1 PROTEIN_PHYSICALLY_INTERACTS_WITH MDN1",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_... | {
"protein_a": "BRCA1",
"protein_b": "MDN1",
"pmid": "34591612",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00034 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between NR2F1 and BCL11B? | NR2F1 GENE_ENCODES_PROTEIN NR2F1 -> NR2F1 PROTEIN_PHYSICALLY_INTERACTS_WITH BCL11B -> BCL11B GENE_ENCODES_PROTEIN BCL11B | {
"steps": [
{
"hop": 1,
"source_node_id": "NR2F1",
"source_node_type": "PROTEIN",
"source_node_label": "NR2F1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "7... | PMID:10744719 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BCL11B",
"source_db": "UniProt",
"payload": {
"accession": "Q9C0K0",
"sequence": "MSRRKQGNPQHLSQRELITPEADHVEAAILEEDEGLEIEEPSGLGLMVGGPDPDLLTCGQCQMNFPLGDILVFIEHKRKQCGGSLGACYDKALDKDSPPPSSRSELRKVSEPVEIGIQVTPDEDDHLLSPTK... | [
{
"source_db": "bridge",
"source_id": "7025",
"text": "NR2F1 GENE_ENCODES_PROTEIN NR2F1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "64919",
"text": "NR2F1 PROTEIN_PHYSICALLY_INTERACTS_WITH BCL11B",
"confidence": 0.9
},
{
"source_db": "bridge",
"sour... | {
"protein_a": "NR2F1",
"protein_b": "BCL11B",
"pmid": "10744719",
"experiment": "Two-hybrid"
} | 0.9 |
co_evid_00035 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between BRCA1 and SPAG5? | BRCA1 GENE_ENCODES_PROTEIN BRCA1 -> BRCA1 PROTEIN_PHYSICALLY_INTERACTS_WITH SPAG5 -> SPAG5 GENE_ENCODES_PROTEIN SPAG5 | {
"steps": [
{
"hop": 1,
"source_node_id": "BRCA1",
"source_node_type": "GENE",
"source_node_label": "BRCA1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "672"... | PMID:34591612 | null | [
"expression",
"intercell_role",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRCA1",
"source_db": "UniProt",
"payload": {
"accession": "P38398",
"sequence": "MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVSIIQSMGYRNR... | [
{
"source_db": "bridge",
"source_id": "672",
"text": "BRCA1 GENE_ENCODES_PROTEIN BRCA1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "10615",
"text": "BRCA1 PROTEIN_PHYSICALLY_INTERACTS_WITH SPAG5",
"confidence": 0.9
},
{
"source_db": "bridge",
"source... | {
"protein_a": "BRCA1",
"protein_b": "SPAG5",
"pmid": "34591612",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00036 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between TP53 and PHB? | TP53 GENE_ENCODES_PROTEIN TP53 -> TP53 PROTEIN_PHYSICALLY_INTERACTS_WITH PHB -> PHB GENE_ENCODES_PROTEIN PHB | {
"steps": [
{
"hop": 1,
"source_node_id": "TP53",
"source_node_type": "GENE",
"source_node_label": "TP53",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "7157",... | PMID:14500729 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "TP53",
"source_db": "UniProt",
"payload": {
"accession": "P04637",
"sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMF... | [
{
"source_db": "bridge",
"source_id": "7157",
"text": "TP53 GENE_ENCODES_PROTEIN TP53",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "5245",
"text": "TP53 PROTEIN_PHYSICALLY_INTERACTS_WITH PHB",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id":... | {
"protein_a": "TP53",
"protein_b": "PHB",
"pmid": "14500729",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00037 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between AGO2 and PTEN? | AGO2 GENE_ENCODES_PROTEIN AGO2 -> AGO2 PROTEIN_PHYSICALLY_INTERACTS_WITH PTEN -> PTEN GENE_ENCODES_PROTEIN PTEN | {
"steps": [
{
"hop": 1,
"source_node_id": "AGO2",
"source_node_type": "PROTEIN",
"source_node_label": "AGO2",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "271... | PMID:35769052 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PTEN",
"source_db": "UniProt",
"payload": {
"accession": "P60484",
"sequence": "MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVM... | [
{
"source_db": "bridge",
"source_id": "27161",
"text": "AGO2 GENE_ENCODES_PROTEIN AGO2",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "5728",
"text": "AGO2 PROTEIN_PHYSICALLY_INTERACTS_WITH PTEN",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id... | {
"protein_a": "AGO2",
"protein_b": "PTEN",
"pmid": "35769052",
"experiment": "Affinity Capture-RNA"
} | 0.9 |
co_evid_00038 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between CASP3 and BTRC? | CASP3 GENE_ENCODES_PROTEIN CASP3 -> CASP3 PROTEIN_PHYSICALLY_INTERACTS_WITH BTRC -> BTRC GENE_ENCODES_PROTEIN BTRC | {
"steps": [
{
"hop": 1,
"source_node_id": "CASP3",
"source_node_type": "GENE",
"source_node_label": "CASP3",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "836"... | PMID:17217622 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CASP3",
"source_db": "UniProt",
"payload": {
"accession": "P42574",
"sequence": "MENTENSVDSKSIKNLEPKIIHGSESMDSGISLDNSYKMDYPEMGLCIIINNKNFHKSTGMTSRSGTDVDAANLRETFRNLKYEVRNKNDLTREEIVELMRDVSKEDHSKRSSFVCVLLSHGEEGIIFGTNGP... | [
{
"source_db": "bridge",
"source_id": "836",
"text": "CASP3 GENE_ENCODES_PROTEIN CASP3",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "8945",
"text": "CASP3 PROTEIN_PHYSICALLY_INTERACTS_WITH BTRC",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_i... | {
"protein_a": "CASP3",
"protein_b": "BTRC",
"pmid": "17217622",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00039 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between PARK7 and SFPQ? | PARK7 GENE_ENCODES_PROTEIN PARK7 -> PARK7 PROTEIN_PHYSICALLY_INTERACTS_WITH SFPQ -> SFPQ GENE_ENCODES_PROTEIN SFPQ | {
"steps": [
{
"hop": 1,
"source_node_id": "PARK7",
"source_node_type": "GENE",
"source_node_label": "PARK7",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "1131... | PMID:15790595 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PARK7",
"source_db": "UniProt",
"payload": {
"accession": "Q99497",
"sequence": "MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQNLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKM... | [
{
"source_db": "bridge",
"source_id": "11315",
"text": "PARK7 GENE_ENCODES_PROTEIN PARK7",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "6421",
"text": "PARK7 PROTEIN_PHYSICALLY_INTERACTS_WITH SFPQ",
"confidence": 0.9
},
{
"source_db": "bridge",
"source... | {
"protein_a": "PARK7",
"protein_b": "SFPQ",
"pmid": "15790595",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00040 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between FLT3 and GAGE12E? | FLT3 GENE_ENCODES_PROTEIN FLT3 -> FLT3 PROTEIN_PHYSICALLY_INTERACTS_WITH GAGE12E -> GAGE12E GENE_ENCODES_PROTEIN GAGE12E | {
"steps": [
{
"hop": 1,
"source_node_id": "FLT3",
"source_node_type": "GENE",
"source_node_label": "FLT3",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "2322",... | PMID:28625976 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "FLT3",
"source_db": "UniProt",
"payload": {
"accession": "P36888",
"sequence": "MPALARDGGQLPLLVVFSAMIFGTITNQDLPVIKCVLINHKNNDSSVGKSSSYPMVSESPEDLGCALRPQSSGTVYEAAAVEVDVSASITLQVLVDAPGNISCLWVFKHSSLNCQPHFDLQNRGVVSMVILKMT... | [
{
"source_db": "bridge",
"source_id": "2322",
"text": "FLT3 GENE_ENCODES_PROTEIN FLT3",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "729431",
"text": "FLT3 PROTEIN_PHYSICALLY_INTERACTS_WITH GAGE12E",
"confidence": 0.9
},
{
"source_db": "bridge",
"sourc... | {
"protein_a": "FLT3",
"protein_b": "GAGE12E",
"pmid": "28625976",
"experiment": "Positive Genetic"
} | 0.9 |
co_evid_00041 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between IKBKG and BCL2? | IKBKG GENE_ENCODES_PROTEIN IKBKG -> IKBKG PROTEIN_PHYSICALLY_INTERACTS_WITH BCL2 -> BCL2 GENE_ENCODES_PROTEIN BCL2 | {
"steps": [
{
"hop": 1,
"source_node_id": "IKBKG",
"source_node_type": "GENE",
"source_node_label": "IKBKG",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "8517... | PMID:17363905 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BCL2",
"source_db": "UniProt",
"payload": {
"accession": "P10415",
"sequence": "MAHAGRTGYDNREIVMKYIHYKLSQRGYEWDAGDVGAAPPGAAPAPGIFSSQPGHTPHPAASRDPVARTSPLQTPAAPGAAAGPALSPVPPVVHLTLRQAGDDFSRRYRRDFAEMSSQLHLTPFTARGRFATVV... | [
{
"source_db": "bridge",
"source_id": "8517",
"text": "IKBKG GENE_ENCODES_PROTEIN IKBKG",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "596",
"text": "IKBKG PROTEIN_PHYSICALLY_INTERACTS_WITH BCL2",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_i... | {
"protein_a": "IKBKG",
"protein_b": "BCL2",
"pmid": "17363905",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00042 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between ABL1 and TUB? | ABL1 GENE_ENCODES_PROTEIN ABL1 -> ABL1 PROTEIN_PHYSICALLY_INTERACTS_WITH TUB -> TUB GENE_ENCODES_PROTEIN TUB | {
"steps": [
{
"hop": 1,
"source_node_id": "ABL1",
"source_node_type": "GENE",
"source_node_label": "ABL1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "25",
... | PMID:10455176 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "ABL1",
"source_db": "UniProt",
"payload": {
"accession": "P00519",
"sequence": "MLEICLKLVGCKSKKGLSSSSSCYLEEALQRPVASDFEPQGLSEAARWNSKENLLAGPSENDPNLFVALYDFVASGDNTLSITKGEKLRVLGYNHNGEWCEAQTKNGQGWVPSNYITPVNSLEKHSWYHGPVSR... | [
{
"source_db": "bridge",
"source_id": "25",
"text": "ABL1 GENE_ENCODES_PROTEIN ABL1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "7275",
"text": "ABL1 PROTEIN_PHYSICALLY_INTERACTS_WITH TUB",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id": "... | {
"protein_a": "ABL1",
"protein_b": "TUB",
"pmid": "10455176",
"experiment": "Biochemical Activity"
} | 0.9 |
co_evid_00043 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between CREBBP and NUP98? | CREBBP GENE_ENCODES_PROTEIN CREBBP -> CREBBP PROTEIN_PHYSICALLY_INTERACTS_WITH NUP98 -> NUP98 GENE_ENCODES_PROTEIN NUP98 | {
"steps": [
{
"hop": 1,
"source_node_id": "CREBBP",
"source_node_type": "GENE",
"source_node_label": "CREBBP",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "13... | PMID:9858599 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CREBBP",
"source_db": "UniProt",
"payload": {
"accession": "Q92793",
"sequence": "MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGKSPLSQGDSSAPS... | [
{
"source_db": "bridge",
"source_id": "1387",
"text": "CREBBP GENE_ENCODES_PROTEIN CREBBP",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "4928",
"text": "CREBBP PROTEIN_PHYSICALLY_INTERACTS_WITH NUP98",
"confidence": 0.9
},
{
"source_db": "bridge",
"sou... | {
"protein_a": "CREBBP",
"protein_b": "NUP98",
"pmid": "9858599",
"experiment": "Reconstituted Complex"
} | 0.9 |
co_evid_00044 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between ESR1 and RELA? | ESR1 GENE_ENCODES_PROTEIN ESR1 -> ESR1 PROTEIN_PHYSICALLY_INTERACTS_WITH RELA -> RELA GENE_ENCODES_PROTEIN RELA | {
"steps": [
{
"hop": 1,
"source_node_id": "ESR1",
"source_node_type": "GENE",
"source_node_label": "ESR1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "2099",... | PMID:16497877 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "ESR1",
"source_db": "UniProt",
"payload": {
"accession": "P03372",
"sequence": "MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQTGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLEN... | [
{
"source_db": "bridge",
"source_id": "2099",
"text": "ESR1 GENE_ENCODES_PROTEIN ESR1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "5970",
"text": "ESR1 PROTEIN_PHYSICALLY_INTERACTS_WITH RELA",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id"... | {
"protein_a": "ESR1",
"protein_b": "RELA",
"pmid": "16497877",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00045 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between PSEN1 and CTNND1? | PSEN1 GENE_ENCODES_PROTEIN PSEN1 -> PSEN1 PROTEIN_PHYSICALLY_INTERACTS_WITH CTNND1 -> CTNND1 GENE_ENCODES_PROTEIN CTNND1 | {
"steps": [
{
"hop": 1,
"source_node_id": "PSEN1",
"source_node_type": "GENE",
"source_node_label": "PSEN1",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "5663... | PMID:10208590 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PSEN1",
"source_db": "UniProt",
"payload": {
"accession": "P49768",
"sequence": "MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSI... | [
{
"source_db": "bridge",
"source_id": "5663",
"text": "PSEN1 GENE_ENCODES_PROTEIN PSEN1",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "1500",
"text": "PSEN1 PROTEIN_PHYSICALLY_INTERACTS_WITH CTNND1",
"confidence": 0.9
},
{
"source_db": "bridge",
"sourc... | {
"protein_a": "PSEN1",
"protein_b": "CTNND1",
"pmid": "10208590",
"experiment": "Two-hybrid"
} | 0.9 |
co_evid_00046 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between KDM6A and RNF114? | KDM6A GENE_ENCODES_PROTEIN KDM6A -> KDM6A PROTEIN_PHYSICALLY_INTERACTS_WITH RNF114 -> RNF114 GENE_ENCODES_PROTEIN RNF114 | {
"steps": [
{
"hop": 1,
"source_node_id": "KDM6A",
"source_node_type": "GENE",
"source_node_label": "KDM6A",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "7403... | PMID:35788583 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "KDM6A",
"source_db": "UniProt",
"payload": {
"accession": "O15550",
"sequence": "MKSCGVSLATAAAAAAAFGDEEKKMAAGKASGESEEASPSLTAEEREALGGLDSRLFGFVRFHEDGARTKALLGKAVRCYESLILKAEGKVESDFFCQLGHFNLLLEDYPKALSAYQRYYSLQSDYWKNAAFL... | [
{
"source_db": "bridge",
"source_id": "7403",
"text": "KDM6A GENE_ENCODES_PROTEIN KDM6A",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "55905",
"text": "KDM6A PROTEIN_PHYSICALLY_INTERACTS_WITH RNF114",
"confidence": 0.9
},
{
"source_db": "bridge",
"sour... | {
"protein_a": "KDM6A",
"protein_b": "RNF114",
"pmid": "35788583",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00047 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between SNCA and MEF2D? | SNCA GENE_ENCODES_PROTEIN SNCA -> SNCA PROTEIN_PHYSICALLY_INTERACTS_WITH MEF2D -> MEF2D GENE_ENCODES_PROTEIN MEF2D | {
"steps": [
{
"hop": 1,
"source_node_id": "SNCA",
"source_node_type": "GENE",
"source_node_label": "SNCA",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "6622",... | PMID:18541383 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "SNCA",
"source_db": "UniProt",
"payload": {
"accession": "P37840",
"sequence": "MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQKTVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMPSEEGYQ... | [
{
"source_db": "bridge",
"source_id": "6622",
"text": "SNCA GENE_ENCODES_PROTEIN SNCA",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "4209",
"text": "SNCA PROTEIN_PHYSICALLY_INTERACTS_WITH MEF2D",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id... | {
"protein_a": "SNCA",
"protein_b": "MEF2D",
"pmid": "18541383",
"experiment": "Reconstituted Complex"
} | 0.9 |
co_evid_00048 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between SOX2 and MRPL23? | SOX2 GENE_ENCODES_PROTEIN SOX2 -> SOX2 PROTEIN_PHYSICALLY_INTERACTS_WITH MRPL23 -> MRPL23 GENE_ENCODES_PROTEIN MRPL23 | {
"steps": [
{
"hop": 1,
"source_node_id": "SOX2",
"source_node_type": "GENE",
"source_node_label": "SOX2",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "6657",... | PMID:34732716 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "SOX2",
"source_db": "UniProt",
"payload": {
"accession": "P48431",
"sequence": "MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWKLLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLMKKDKYTLPGGLLAP... | [
{
"source_db": "bridge",
"source_id": "6657",
"text": "SOX2 GENE_ENCODES_PROTEIN SOX2",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "6150",
"text": "SOX2 PROTEIN_PHYSICALLY_INTERACTS_WITH MRPL23",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_i... | {
"protein_a": "SOX2",
"protein_b": "MRPL23",
"pmid": "34732716",
"experiment": "Affinity Capture-MS"
} | 0.9 |
co_evid_00049 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between MET and CRK? | MET GENE_ENCODES_PROTEIN MET -> MET PROTEIN_PHYSICALLY_INTERACTS_WITH CRK -> CRK GENE_ENCODES_PROTEIN CRK | {
"steps": [
{
"hop": 1,
"source_node_id": "MET",
"source_node_type": "GENE",
"source_node_label": "MET",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "4233",
... | PMID:24828152 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "MET",
"source_db": "UniProt",
"payload": {
"accession": "P08581",
"sequence": "MKAPAVLAPGILVLLFTLVQRSNGECKEALAKSEMNVNMKYQLPNFTAETPIQNVILHEHHIFLGATNYIYVLNEEDLQKVAEYKTGPVLEHPDCFPCQDCSSKANLSGGVWKDNINMALVVDTYYDDQLISCGS... | [
{
"source_db": "bridge",
"source_id": "4233",
"text": "MET GENE_ENCODES_PROTEIN MET",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "1398",
"text": "MET PROTEIN_PHYSICALLY_INTERACTS_WITH CRK",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id": "C... | {
"protein_a": "MET",
"protein_b": "CRK",
"pmid": "24828152",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00050 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between MMS19 and BRIP1? | MMS19 GENE_ENCODES_PROTEIN MMS19 -> MMS19 PROTEIN_PHYSICALLY_INTERACTS_WITH BRIP1 -> BRIP1 GENE_ENCODES_PROTEIN BRIP1 | {
"steps": [
{
"hop": 1,
"source_node_id": "MMS19",
"source_node_type": "GENE",
"source_node_label": "MMS19",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "6421... | PMID:22678362 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRIP1",
"source_db": "UniProt",
"payload": {
"accession": "Q9BX63",
"sequence": "MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSALAWQQSLSGKPADEGVSEKAEVQLSCCCACHSKDFTNNDMNQGTSRHFNYPSTPPSERNGTSSTCQDSPEKTT... | [
{
"source_db": "bridge",
"source_id": "64210",
"text": "MMS19 GENE_ENCODES_PROTEIN MMS19",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "83990",
"text": "MMS19 PROTEIN_PHYSICALLY_INTERACTS_WITH BRIP1",
"confidence": 0.9
},
{
"source_db": "bridge",
"sour... | {
"protein_a": "MMS19",
"protein_b": "BRIP1",
"pmid": "22678362",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00051 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between MYC and TAF12? | MYC GENE_ENCODES_PROTEIN MYC -> MYC PROTEIN_PHYSICALLY_INTERACTS_WITH TAF12 -> TAF12 GENE_ENCODES_PROTEIN TAF12 | {
"steps": [
{
"hop": 1,
"source_node_id": "MYC",
"source_node_type": "GENE",
"source_node_label": "MYC",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "4609",
... | PMID:12660246 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "MYC",
"source_db": "UniProt",
"payload": {
"accession": "P01106",
"sequence": "MDFFRVVENQQPPATMPLNVSFTNRNYDLDYDSVQPYFYCDEEENFYQQQQQSELQPPAPSEDIWKKFELLPTPPLSPSRRSGLCSPSYVAVTPFSLRGDNDGGGGSFSTADQLEMVTELLGGDMVNQSFICDPD... | [
{
"source_db": "bridge",
"source_id": "4609",
"text": "MYC GENE_ENCODES_PROTEIN MYC",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "6883",
"text": "MYC PROTEIN_PHYSICALLY_INTERACTS_WITH TAF12",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id": ... | {
"protein_a": "MYC",
"protein_b": "TAF12",
"pmid": "12660246",
"experiment": "Reconstituted Complex"
} | 0.9 |
co_evid_00052 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between ERG and XRCC5? | ERG GENE_ENCODES_PROTEIN ERG -> ERG PROTEIN_PHYSICALLY_INTERACTS_WITH XRCC5 -> XRCC5 GENE_ENCODES_PROTEIN XRCC5 | {
"steps": [
{
"hop": 1,
"source_node_id": "ERG",
"source_node_type": "GENE",
"source_node_label": "ERG",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "2078",
... | PMID:21575865 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "ERG",
"source_db": "UniProt",
"payload": {
"accession": "P11308",
"sequence": "MASTIKEALSVVSEDQSLFECAYGTPHLAKTEMTASSSSDYGQTSKMSPRVPQQDWLSQPPARVTIKMECNPSQVNGSRNSPDECSVAKGGKMVGSPDTVGMNYGSYMEEKHMPPPNMTTNERRVIVPADPTLWS... | [
{
"source_db": "bridge",
"source_id": "2078",
"text": "ERG GENE_ENCODES_PROTEIN ERG",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "7520",
"text": "ERG PROTEIN_PHYSICALLY_INTERACTS_WITH XRCC5",
"confidence": 0.9
},
{
"source_db": "bridge",
"source_id": ... | {
"protein_a": "ERG",
"protein_b": "XRCC5",
"pmid": "21575865",
"experiment": "Affinity Capture-Western"
} | 0.9 |
co_evid_00053 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between AURKA and TRRAP? | AURKA GENE_ENCODES_PROTEIN AURKA -> AURKA PROTEIN_PHYSICALLY_INTERACTS_WITH TRRAP -> TRRAP GENE_ENCODES_PROTEIN TRRAP | {
"steps": [
{
"hop": 1,
"source_node_id": "AURKA",
"source_node_type": "GENE",
"source_node_label": "AURKA",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "6790... | PMID:28218735 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "AURKA",
"source_db": "UniProt",
"payload": {
"accession": "O14965",
"sequence": "MDRSKENCISGPVKATAPVGGPKRVLVTQQFPCQNPLPVNSGQAQRVLCPSNSSQRIPLQAQKLVSSHKPVQNQKQKQLQATSVPHPVSRPLNNTQKSKQPLPSAPENNPEEELASKQKNEESKKRQWALEDF... | [
{
"source_db": "bridge",
"source_id": "6790",
"text": "AURKA GENE_ENCODES_PROTEIN AURKA",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "8295",
"text": "AURKA PROTEIN_PHYSICALLY_INTERACTS_WITH TRRAP",
"confidence": 0.9
},
{
"source_db": "bridge",
"source... | {
"protein_a": "AURKA",
"protein_b": "TRRAP",
"pmid": "28218735",
"experiment": "Reconstituted Complex"
} | 0.9 |
co_evid_00054 | evidence_attribution | coding_variant | medium | 3 | Which published study provides experimental evidence for the physical interaction between C9orf72 and RBX1? | C9orf72 GENE_ENCODES_PROTEIN C9orf72 -> C9orf72 PROTEIN_PHYSICALLY_INTERACTS_WITH RBX1 -> RBX1 GENE_ENCODES_PROTEIN RBX1 | {
"steps": [
{
"hop": 1,
"source_node_id": "C9orf72",
"source_node_type": "GENE",
"source_node_label": "C9orf72",
"edge_relation": "GENE_ENCODES_PROTEIN",
"edge_evidence_type": "inferred",
"edge_confidence": 0.9,
"edge_source_db": "bridge",
"target_node_id": "... | PMID:37317656 | null | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "C9orf72",
"source_db": "UniProt",
"payload": {
"accession": "Q96LT7",
"sequence": "MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVC... | [
{
"source_db": "bridge",
"source_id": "203228",
"text": "C9orf72 GENE_ENCODES_PROTEIN C9orf72",
"confidence": 0.9
},
{
"source_db": "BioGRID",
"source_id": "9978",
"text": "C9orf72 PROTEIN_PHYSICALLY_INTERACTS_WITH RBX1",
"confidence": 0.9
},
{
"source_db": "bridge",
... | {
"protein_a": "C9orf72",
"protein_b": "RBX1",
"pmid": "37317656",
"experiment": "Affinity Capture-MS"
} | 0.9 |
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