{ "uniprot_canonical_ac": "A1A4S6-1", "ptm_annotation": [ { "annotation": "Phosphorylated. Phosphorylated in vitro by constitutive active PKN3.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11432776", "id": "11432776", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A1A4S6-1|RHG10_HUMAN Isoform 1 of Rho GTPase-activating protein 10 OS=Homo sapiens OX=9606 GN=ARHGAP10 PE=1 SV=1 CANONICAL=A1A4S6-1", "length": 786, "sequence": "MGLQPLEFSDCYLDSPWFRERIRAHEAELERTNKFIKELIKDGKNLIAATKSLSVAQRKFAHSLRDFKFEFIGDAVTDDERCIDASLREFSNFLKNLEEQREIMALSVTETLIKPLEKFRKEQLGAVKEEKKKFDKETEKNYSLIDKHLNLSAKKKDSHLQEADIQVEQNRQHFYELSLEYVCKLQEIQERKKFEFVEPMLSFFQGMFTFYHQGHELAKDFNHYKMELQINIQNTRNRFEGTRSEVEELMNKIRQNPKDHKRASQFTAEGYLYVQEKRPAPFGSSWVKHYCMYRKAAKKFNMIPFEHRSGGKLGDGEVFFLKECTKRHTDSIDRRFCFDIEAADRPGVSLTMQAFSEEERKQWLEALGGKEALSHSFNTAIIPRPEGNAQLDKMGFTIIRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKTCNEVDLENSADWEVKTITSALKQYLRSLPEPLMTYELHGDFIVPAKSGSPESRVNAIHFLVHKLPEKNKEMLDILVKHLTNVSNHSKQNLMTVANLGVVFGPTLMRPQEETVAALMDLKFQNIVVEILIENHEKIFRTPPDTTFPEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEDGDNPYPSKEDTPTSSLDSLSSPSPVTTAVPGPPGPDKNHLLADGGSFGDWASTIPGQTRSSMVQWLNPQSPTTTSSNSAVTPLSPGSSPFPFSPPATVADKPPESIRSRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" }, "uniprot_id": "RHG10_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11432776", "type": [ "PubMed" ], "id": "11432776" } ], "title": "PKNbeta interacts with the SH3 domains of Graf and a novel Graf related protein, Graf2, which are GTPase activating proteins for Rho family.", "journal": "J. Biochem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Ono Y., Matsumoto M., Mukai H., Shibata H., Oishi K., Yamagiwa A.", "date": "2001" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15471851", "type": [ "PubMed" ], "id": "15471851" } ], "title": "Identification and characterization of PS-GAP as a novel regulator of caspase-activated PAK-2.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Koeppel MA, McCarthy CC, Moertl E, Jakobi R", "date": "2004" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19911011", "type": [ "PubMed" ], "id": "19911011" } ], "title": "Mutation of ARHGAP9 in patients with coronary spastic angina.", "journal": "Journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Takefuji M, Asano H, Mori K, Amano M, Kato K, Watanabe T, Morita Y, Katsumi A, Itoh T, Takenawa T, Hirashiki A, Izawa H, Nagata K, Hirayama H, Takatsu F, Naoe T, Yokota M, Kaibuchi K", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20031603", "type": [ "PubMed" ], "id": "20031603" } ], "title": "A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.", "journal": "Circulation. Cardiovascular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Marroni F, Pfeufer A, Aulchenko YS, Franklin CS, Isaacs A, Pichler I, Wild SH, Oostra BA, Wright AF, Campbell H, Witteman JC, Kaab S, Hicks AA, Gyllensten U, Rudan I, Meitinger T, Pattaro C, van Duijn CM, Wilson JF, Pramstaller PP", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20332263", "type": [ "PubMed" ], "id": "20332263" } ], "title": "A genome-wide association study of prognosis in breast cancer.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Azzato EM, Pharoah PD, Harrington P, Easton DF, Greenberg D, Caporaso NE, Chanock SJ, Hoover RN, Thomas G, Hunter DJ, Kraft P", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27010858", "type": [ "PubMed" ], "id": "27010858" } ], "title": "ARHGAP10, downregulated in ovarian cancer, suppresses tumorigenicity of ovarian cancer cells.", "journal": "Cell death & disease", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Luo N, Guo J, Chen L, Yang W, Qu X, Cheng Z", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31445707", "type": [ "PubMed" ], "id": "31445707" } ], "title": "CXCL12 promotes human ovarian cancer cell invasion through suppressing ARHGAP10 expression.", "journal": "Biochemical and biophysical research communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Luo N, Chen DD, Liu L, Li L, Cheng ZP", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31789419", "type": [ "PubMed" ], "id": "31789419" } ], "title": "miR3373p inhibits gastric tumor metastasis by targeting ARHGAP10.", "journal": "Molecular medicine reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Wang Z, Yao L, Li Y, Hao B, Wang M, Wang J, Gu W, Zhan H, Liu G, Wu Q", "date": "2020" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/8288572", "type": [ "PubMed" ], "id": "8288572" } ], "title": "Characterization of rhoGAP. A GTPase-activating protein for rho-related small GTPases.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Lancaster CA, Taylor-Harris PM, Self AJ, Brill S, van Erp HE, Hall A", "date": "1994" } ], "uniprot_ac": "A1A4S6", "site_annotation": [ { "end_pos": 143, "annotation": "n_glycosylation_sequon", "start_pos": 141 }, { "end_pos": 152, "annotation": "n_glycosylation_sequon", "start_pos": 150 }, { "end_pos": 521, "annotation": "n_glycosylation_sequon", "start_pos": 519 }, { "end_pos": 524, "annotation": "n_glycosylation_sequon", "start_pos": 522 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6#A1A4S6-1", "isoform_ac": "A1A4S6-1", "locus": { "end_pos": 147732302, "strand": "-", "start_pos": 148072078, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000336498", "id": "ENST00000336498", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000336923", "id": "ENSP00000336923", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1A4S6-1|RHG10_HUMAN Isoform 1 of Rho GTPase-activating protein 10 OS=Homo sapiens OX=9606 GN=ARHGAP10 PE=1 SV=1 CANONICAL=A1A4S6-1", "length": 786, "sequence": "MGLQPLEFSDCYLDSPWFRERIRAHEAELERTNKFIKELIKDGKNLIAATKSLSVAQRKFAHSLRDFKFEFIGDAVTDDERCIDASLREFSNFLKNLEEQREIMALSVTETLIKPLEKFRKEQLGAVKEEKKKFDKETEKNYSLIDKHLNLSAKKKDSHLQEADIQVEQNRQHFYELSLEYVCKLQEIQERKKFEFVEPMLSFFQGMFTFYHQGHELAKDFNHYKMELQINIQNTRNRFEGTRSEVEELMNKIRQNPKDHKRASQFTAEGYLYVQEKRPAPFGSSWVKHYCMYRKAAKKFNMIPFEHRSGGKLGDGEVFFLKECTKRHTDSIDRRFCFDIEAADRPGVSLTMQAFSEEERKQWLEALGGKEALSHSFNTAIIPRPEGNAQLDKMGFTIIRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKTCNEVDLENSADWEVKTITSALKQYLRSLPEPLMTYELHGDFIVPAKSGSPESRVNAIHFLVHKLPEKNKEMLDILVKHLTNVSNHSKQNLMTVANLGVVFGPTLMRPQEETVAALMDLKFQNIVVEILIENHEKIFRTPPDTTFPEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEDGDNPYPSKEDTPTSSLDSLSSPSPVTTAVPGPPGPDKNHLLADGGSFGDWASTIPGQTRSSMVQWLNPQSPTTTSSNSAVTPLSPGSSPFPFSPPATVADKPPESIRSRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" } }, { "url": "https://www.uniprot.org/uniprot/A1A4S6#H0Y8W5-1", "isoform_ac": "H0Y8W5-1", "locus": { "end_pos": 147881867, "strand": "-", "start_pos": 148072080, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000507661", "id": "ENST00000507661", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000422358", "id": "ENSP00000422358", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y8W5-1|RHG10_HUMAN Computationally mapped isoform of Rho GTPase-activating protein 10 OS=Homo sapiens OX=9606 GN=ARHGAP10 PE=1 SV=1 CANONICAL=A1A4S6-1", "length": 413, "sequence": "XCTKRHTDSIDRRFCFDIEAADRPGVSLTMQAFSEEERKQWLEALGGKEALSHSFNTAIIPRPEGNAQLDKMGFTIIRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKTCNEVDLENSADWEVKTITSALKQYLRSLPEPLMTYELHGDFIVPAKSGSPESRVNAIHFLVHKLPEKNKEMLDILVKHLTNVSNHSKQNLMTVANLGVVFGPTLMRPQEETVAALMDLKFQNIVVEILIENHEKIFRTPPDTTFPEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEDGDNPYPSKEDTPTSSLDSLSSPSPVTTAVPGPPGPDKNHLLADGGSFGDWASTIIRSRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79658", "resource": "KEGG Pathway", "id": "hsa:79658", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194840", "resource": "Reactome", "id": "R-HSA-194840", "name": "Rho GTPase cycle" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211728", "resource": "Reactome", "id": "R-HSA-211728", "name": "Regulation of PAK-2p34 activity by PS-GAP/RHG10" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "ARHGAP10 may serve as a tumor suppressor through inactivating Cdc42, as well as inhibiting cell cycle, replication and BER pathways. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A1A4S6#function", "annotation": "GTPase activator for the small GTPases RhoA and Cdc42 by converting them to an inactive GDP-bound state. Essential for PTKB2 regulation of cytoskeletal organization via Rho family GTPases. Inhibits PAK2 proteolytic fragment PAK-2p34 kinase activity and changes its localization from the nucleus to the perinuclear region. Stabilizes PAK-2p34 thereby increasing stimulation of cell death (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6#function", "id": "A1A4S6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "MiR3373p inhibits gastric tumor metastasis by targeting ARHGAP10.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "PS-GAP is a novel regulator of caspase-activated PAK-2", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "These findings suggest that CXCL12/CXCR4 promotes ovarian cancer cell invasion by suppressing ARHGAP10 expression, which is mediated by VEGF/VEGFR2 signaling.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4AB50-1", "protein_name": "RCG51408", "sequence": { "length": 786, "sequence": "MGLQPLEFSDCYLDSPWFRERIRAHEAELERTNKFIKELIKDGKNLIAATKSLSAAQRKFAHSLRDFKFEFIGDAETDDERCIDASLREFSNFLKNLEEQREIMALSVTETLIKPLEKFRKEQLGAVKEEKKKFDKETERNYSLIDKHLTLSARKKDTHLQEADLQVEQNRQHFYELSLEYVCKLQEIQERKKFEFVEPMLSFFQGMFTFYHQGHELSKDFNHYKTELQINIQNTRNRFEGTRSEVEELMNKIRQNPKDQKRASQFTAEGYLYVQEKRPAPFGSSWVKHYCMYRKTAKKFNMIPFEHRSGGKLGDGEAFFLKECTKRHIDSTDRRFCFDIEAADRPGVPLTVQAFSEEERKQWLEALGGKEALFHTFNRAIVPRPEGGAQLDKMGFTILRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKTCNELDLENSTDWEVKTVTSALKQYLRSLPEPLMTYELHRDFIVPAKSGSPESRVSAIHFLVHKLPEKNKEMLDILVKHLTNVSSHSKQNLMTVANLGVVFGPTLMRPQEETVAAIMDLKFQNIVVEILIENHEKIFRTSPDTTFAEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEEGDSPSPLKEDPPSSSQDSLSTPSPTTSAAHGPPGPDGNHLAADRGNCGDATATTPSQTRPSMVQWLNMQSPTTPSSNPAGTPPSPRMSPFPLSPAASIVDKLPECLINRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12695", "id": "12695", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Arhgap10", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q6Y5D8-1", "protein_name": "Rho GTPase-activating protein 10", "sequence": { "length": 786, "sequence": "MGLQPLEFSDCYLDSPWFRERIRAHEAELERTNKFIKELIKDGKNLISATKSLSAAQRKFAHSLRDFKFEFIGDAETDDERCIDASLREFSNFLKNLEEQREIMALSVTETLIKPLEKFRKEQLGAVKEEKKKFDKETEKNYSLIDKHLTLSARKKDSHLQEADLQVEQNRQHFYELSLEYVCKLQEIQERKKFEFVEPMLSFFQGMFTFYHQGHELSKDFNHYKMELQINIQNTRNRFEGTRSEVEELMNKIRQNPKDQKRASQFTAEGYLYVQEKRPAPFGSSWVKHYCMYRKTAKKFNMIPFEHRSGGKLGDGEAFFLKECTKRHMDSTDRRFCFDIEAADRPGVPLTVQAFSEEERKQWLEALGGKEALFHTFNRAIVPRPEGGAQLDKMGFTILRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKMCNELDLENSADWEVKTVTSALKQYLRSLPEPLMTYELHRDFIVPAKSGSPESRVNAIHFLVHKLPEKNKEMLDILVKHLTNVSSHSKQNLMTVANLGVVFGPTLMRPQEETVAAIMDLKFQNIVVEILIENHEKIFRTSPDTTFAEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEEGDSPSPLKEDPPSSSQDSLSTPSPTTSAAHGPPGLDGNHLAADGGSCGDATATTPSQTRPSMVQWLNMQSPTTPSSNPAGTPPSPRMSPFPLSPAASIVDKLPECVINRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12695", "id": "12695", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Arhgap10", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "K", "start_pos": 140, "alt_nt": "G", "chr_id": "4", "ref_nt": "A", "chr_pos": "148778738", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4S6", "id": "A1A4S6", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 140, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 315, "alt_nt": "G", "chr_id": "4", "ref_nt": "A", "chr_pos": "148802993", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } }, { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } }, { "synonyms": [ { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic tumor", "description": "" } ], "recommended_name": { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4S6", "id": "A1A4S6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "G", "subjects_tested": "412", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 315, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 671, "alt_nt": "T", "chr_id": "4", "ref_nt": "G", "chr_pos": "148968186", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4S6", "id": "A1A4S6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "Y", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 671, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 681, "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "148984312", "disease": [ { "synonyms": [ { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } }, { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4S6", "id": "A1A4S6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "*", "subjects_tested": "499", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs758074651.", "end_pos": 681, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "E", "start_pos": 7, "alt_nt": "T", "chr_id": "4", "ref_nt": "G", "chr_pos": "148653473", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4S6", "id": "A1A4S6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "D", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 7, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "ac": "NP_078881.3", "name": "rho GTPase-activating protein 10", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "GTPase activator activity", "id": "GO:0005096" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": 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"http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000071205", "id": "ENSG00000071205", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000071205", "id": "ENSG00000071205", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000071205", "id": "ENSG00000071205", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000071205", "id": "ENSG00000071205", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000071205", "id": "ENSG00000071205", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000071205", "id": "ENSG00000071205", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000071205", "id": "ENSG00000071205", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "name": "ARHGAP10", "locus": { "end_pos": 148072780, "strand": "+", "start_pos": 147732063, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000071205", "id": "ENSG00000071205", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "GTPase regulator associated with focal adhesion kinase 2" }, { "url": "https://www.uniprot.org/uniprot/A1A4S6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Graf-related protein 2" }, { "url": "https://www.uniprot.org/uniprot/A1A4S6#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Rho GTPase-activating protein 10" }, { "url": "https://www.uniprot.org/uniprot/A1A4S6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Rho-type GTPase-activating protein 10" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A4S6", "type": "synonym", "resource": "RefSeq", "name": "graf-related protein 2; rho-type GTPase-activating protein 10; GTPase regulator associated with focal adhesion kinase 2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A4S6", "type": "synonym", "resource": "RefSeq", "name": "rho GTPase-activating protein 10" } ] }