{ "uniprot_canonical_ac": "A1YPR0-1", "ptm_annotation": [], "sequence": { "header": "sp|A1YPR0-1|ZBT7C_HUMAN Isoform 1 of Zinc finger and BTB domain-containing protein 7C OS=Homo sapiens OX=9606 GN=ZBTB7C PE=2 SV=1 CANONICAL=A1YPR0-1", "length": 619, "sequence": "MANDIDELIGIPFPNHSSEVLCSLNEQRHDGLLCDVLLVVQEQEYRTHRSVLAACSKYFKKLFTAGTLASQPYVYEIDFVQPEALAAILEFAYTSTLTITAGNVKHILNAARMLEIQCIVNVCLEIMEPGGDGGEEDDKEDDDDDEDDDDEEDEEEEEEEEEDDDDDTEDFADQENLPDPQDISCHQSPSKTDHLTEKAYSDTPRDFPDSFQAGSPGHLGVIRDFSIESLLRENLYPKANIPDRRPSLSPFAPDFFPHLWPGDFGAFAQLPEQPMDSGPLDLVIKNRKIKEEEKEELPPPPPPPFPNDFFKDMFPDLPGGPLGPIKAENDYGAYLNFLSATHLGGLFPPWPLVEERKLKPKASQQCPICHKVIMGAGKLPRHMRTHTGEKPYMCTICEVRFTRQDKLKIHMRKHTGERPYLCIHCNAKFVHNYDLKNHMRIHTGVRPYQCEFCYKSFTRSDHLHRHIKRQSCRMARPRRGRKPAAWRAASLLFGPGGPAPDKAAFVMPPALGEVGGHLGGAAVCLPGPSPAKHFLAAPKGALSLQELERQFEETQMKLFGRAQLEAERNAGGLLAFALAENVAAARPYFPLPDPWAAGLAGLPGLAGLNHVASMSEANN" }, "uniprot_id": "ZBT7C_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1YPR0", "id": "A1YPR0", "database": "UniProtKB" } ], "taxid": 9606, "name": "Homo sapiens" } ], "crossref_internal": { "gene": [ "ZBTB7C" ], "species": [ 9606 ], "disease": [ "DOID:11054", "DOID:9256", "DOID:2394", "DOID:1781", "DOID:10283", "DOID:3907", "DOID:11934", "DOID:3571", "DOID:3910", "DOID:1319", "DOID:5041" ], "site": [ "A1YPR0-1.318.318", "A1YPR0-1.617.617", "A1YPR0-1.501.501", "A1YPR0-1.44.44", "A1YPR0-1.611.611", "A1YPR0-1.593.593" ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17932560", "type": [ "PubMed" ], "id": "17932560" } ], "title": "Adrenomedullin and adrenomedullin binding protein-1 protect endothelium-dependent vascular relaxation in sepsis.", "journal": "Molecular medicine (Cambridge, Mass.)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ], "authors": "Zhou M, Maitra SR, Wang P", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22253232", "type": [ "PubMed" ], "id": "22253232" } ], "title": "KR-POK interacts with p53 and represses its ability to activate transcription of p21WAF1/CDKN1A.", "journal": "Cancer research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ], "authors": "Jeon BN, Kim MK, Choi WI, Koh DI, Hong SY, Kim KS, Kim M, Yun CO, Yoon J, Choi KY, Lee KR, Nephew KP, Hur MW", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23006423", "type": [ "PubMed" ], "id": "23006423" } ], "title": "Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.", "journal": "BMC cancer", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ], "authors": "Niu N, Schaid DJ, Abo RP, Kalari K, Fridley BL, Feng Q, Jenkins G, Batzler A, Brisbin AG, Cunningham JM, Li L, Sun Z, Yang P, Wang L", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23456168", "type": [ "PubMed" ], "id": "23456168" } ], "title": "Genome-wide association study in Han Chinese identifies three novel loci for human height.", "journal": "Human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ], "authors": "Hao Y, Liu X, Lu X, Yang X, Wang L, Chen S, Li H, Li J, Cao J, Chen J, Li Y, Zhao L, Shi Y, Shen C, Yan W, He J, Huang J, Gu D", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26542693", "type": [ "PubMed" ], "id": "26542693" } ], "title": "Integrative Mouse and Human Studies Implicate ANGPT1 and ZBTB7C as Susceptibility Genes to Ischemic Injury.", "journal": "Stroke", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ], "authors": "Du R, Zhou J, Lorenzano S, Liu W, Charoenvimolphan N, Qian B, Xu J, Wang J, Zhang X, Wang X, Berndt A, Devan WJ, Valant VJ, Wang J, Furie KL, Rosand J, Rost N, Friedlander RM, Paigen B, Weiss ST", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28571744", "type": [ "PubMed" ], "id": "28571744" } ], "title": "Kr-POK (ZBTB7c) regulates cancer cell proliferation through glutamine metabolism.", "journal": "Biochimica et biophysica acta. Gene regulatory mechanisms", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ], "authors": "Hur MW, Yoon JH, Kim MY, Ko H, Jeon BN", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/9427755", "type": [ "PubMed" ], "id": "9427755" } ], "title": "APM-1, a novel human gene, identified by aberrant co-transcription with papillomavirus oncogenes in a cervical carcinoma cell line, encodes a BTB/POZ-zinc finger protein with growth inhibitory activity.", "journal": "EMBO J.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1YPR0", "id": "A1YPR0", "database": "UniProtKB" } ], "authors": "Korn B., Lichter P., Weitz S., Reuter S., Geisen C., Delius H., Schwarz E., Vogt M., Bartelmann M., Kahn T., Napierski I.", "date": "1998" } ], "uniprot_ac": "A1YPR0", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1YPR0", "type": "synonym", "resource": "RefSeq", "name": "APM-1; APM1; ZBTB36; ZNF857C" }, { "url": "https://www.uniprot.org/uniprot/A1YPR0", "type": "synonym", "resource": "UniProtKB", "name": "APM1" }, { "url": "https://www.uniprot.org/uniprot/A1YPR0", "type": "synonym", "resource": "UniProtKB", "name": "ZBTB36" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1YPR0", "type": "synonym", "resource": "RefSeq", "name": "ZBTB7C" }, { "url": "https://www.uniprot.org/uniprot/A1YPR0", "type": "recommended", "resource": "UniProtKB", "name": "ZBTB7C" }, { "url": "https://www.uniprot.org/uniprot/A1YPR0", "type": "synonym", "resource": "UniProtKB", "name": "ZNF857C" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1YPR0#A0A1B0GXF8-1", "isoform_ac": "A0A1B0GXF8-1", "locus": { "end_pos": 48040910, "strand": "+", "start_pos": 48041107, "chromosome": "18", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000590437", "id": "ENST00000590437", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467323", "id": "ENSP00000467323", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A1B0GXF8-1|ZBT7C_HUMAN Computationally mapped isoform of Zinc finger and BTB domain-containing protein 7C OS=Homo sapiens OX=9606 GN=ZBTB7C PE=2 SV=1 CANONICAL=A1YPR0-1", "length": 66, "sequence": "MANDIDELIGIPFPNHSSEVLCSLNEQRHDGLLCDVLLVVQEQEYRTHRSVLAACSKYFKKLFTAG" } }, { "url": "https://www.uniprot.org/uniprot/A1YPR0#A1YPR0-1", "isoform_ac": "A1YPR0-1", "locus": { "end_pos": 48029263, "strand": "+", "start_pos": 48041107, "chromosome": "18", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000590800", "id": "ENST00000590800", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467877", "id": "ENSP00000467877", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1YPR0-1|ZBT7C_HUMAN Isoform 1 of Zinc finger and BTB domain-containing protein 7C OS=Homo sapiens OX=9606 GN=ZBTB7C PE=2 SV=1 CANONICAL=A1YPR0-1", "length": 619, "sequence": "MANDIDELIGIPFPNHSSEVLCSLNEQRHDGLLCDVLLVVQEQEYRTHRSVLAACSKYFKKLFTAGTLASQPYVYEIDFVQPEALAAILEFAYTSTLTITAGNVKHILNAARMLEIQCIVNVCLEIMEPGGDGGEEDDKEDDDDDEDDDDEEDEEEEEEEEEDDDDDTEDFADQENLPDPQDISCHQSPSKTDHLTEKAYSDTPRDFPDSFQAGSPGHLGVIRDFSIESLLRENLYPKANIPDRRPSLSPFAPDFFPHLWPGDFGAFAQLPEQPMDSGPLDLVIKNRKIKEEEKEELPPPPPPPFPNDFFKDMFPDLPGGPLGPIKAENDYGAYLNFLSATHLGGLFPPWPLVEERKLKPKASQQCPICHKVIMGAGKLPRHMRTHTGEKPYMCTICEVRFTRQDKLKIHMRKHTGERPYLCIHCNAKFVHNYDLKNHMRIHTGVRPYQCEFCYKSFTRSDHLHRHIKRQSCRMARPRRGRKPAAWRAASLLFGPGGPAPDKAAFVMPPALGEVGGHLGGAAVCLPGPSPAKHFLAAPKGALSLQELERQFEETQMKLFGRAQLEAERNAGGLLAFALAENVAAARPYFPLPDPWAAGLAGLPGLAGLNHVASMSEANN" } }, { "url": "https://www.uniprot.org/uniprot/A1YPR0#B2RG53-1", "isoform_ac": "B2RG53-1", "locus": { "end_pos": 48041054, "strand": "+", "start_pos": 48041107, "chromosome": "18", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000588149", "id": "ENST00000588149", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000468814", "id": "ENSP00000468814", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B2RG53-1|ZBT7C_HUMAN Computationally mapped isoform of Zinc finger and BTB domain-containing protein 7C OS=Homo sapiens OX=9606 GN=ZBTB7C PE=2 SV=1 CANONICAL=A1YPR0-1", "length": 18, "sequence": "MANDIDELIGIPFPNHSS" } }, { "url": "https://www.uniprot.org/uniprot/A1YPR0#B2RG63-1", "isoform_ac": "B2RG63-1", "locus": { "end_pos": 48041033, "strand": "+", "start_pos": 48041107, "chromosome": "18", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000588970", "id": "ENST00000588970", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000468502", "id": "ENSP00000468502", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B2RG63-1|ZBT7C_HUMAN Computationally mapped isoform of Zinc finger and BTB domain-containing protein 7C OS=Homo sapiens OX=9606 GN=ZBTB7C PE=2 SV=1 CANONICAL=A1YPR0-1", "length": 25, "sequence": "MANDIDELIGIPFPNHSSEVLCSLN" } }, { "url": "https://www.uniprot.org/uniprot/A1YPR0#B2RG76-1", "isoform_ac": "B2RG76-1", "locus": { "end_pos": 48041063, "strand": "+", "start_pos": 48041107, "chromosome": "18", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000591526", "id": "ENST00000591526", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000468752", "id": "ENSP00000468752", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B2RG76-1|ZBT7C_HUMAN Computationally mapped isoform of Zinc finger and BTB domain-containing protein 7C OS=Homo sapiens OX=9606 GN=ZBTB7C PE=2 SV=1 CANONICAL=A1YPR0-1", "length": 15, "sequence": "MANDIDELIGIPFPN" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:201501", "resource": "KEGG Pathway", "id": "hsa:201501", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "annotation": "Adm and APM-1 protect endothelium-dependent vascular relaxation in sepsis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A1YPR0#function", "annotation": "May be a tumor suppressor gene.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1YPR0#function", "id": "A1YPR0", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "annotation": "Our findings define KR-POK as a transcriptional repressor with a pro-oncogenic role that relies upon binding to p53 and inhibition of its transactivation function.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "annotation": "Repression of Kr-POK inhibited tumor growth.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "annotation": "ZBTB7C genetic variations were significant for susceptibility to ischemic injury in cerebral ischemia.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034449.1", "id": "NP_001034449.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "B2GV04-1", "protein_name": "Zinc finger and BTB domain-containing 7C", "sequence": { "length": 619, "sequence": "MANDIDELIGIPFPNHSSEVLCSLNEQRHAGLLCDVLLVVQEQEYRTHRSVLAACSKYFKKLFTAGNLASQPYVYEIDFVQPEALAAILEFAYTSTLTITASNVKHILNAARMLEIQCIVNVCLEIMEPGGNVGEEDDKEEEDDDEDDDDEDDEEEEEEEEEEEEDDTEDFADQENLPDPQDINCPQSPSKTDCLTEKDYSDTPRDFPDSFQPESPGHLGVIRDFSIESLLRENLYPKASIPDRRPSLSPFAPEFFPHLWPGDFGAFAQLPEQPMDSGPLDLVIKDRKIKEEEKEELAPPPPPPFSSDFFKDMFPDLPGGPLGPIKAENDYGAYLNFLSATHLGSLFPPWPLVEERKLKPKASQQCPICHKVIMGAGKLPRHMRTHTGEKPYMCSICEVRFTRQDKLKIHMRKHTGERPYLCIHCNAKFVHNYDLKNHMRIHTGVRPYQCEFCYKSFTRSDHLHRHIKRQSCRMARPRRGRKPAAWRAASLLFGPGGPSADKAAFVMPPALGDVGGHLGGTAVCLPGPSPAKHFLASPKGTLSLQELERQFEETQMKLFGRAQLEAERNAGGLLALALAENVAATRPYFPLPDPWAAGLAGLPGLTGLNHVASMSEANN" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/17070", "id": "17070", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8VCZ7-1", "protein_name": "Zinc finger and BTB domain-containing protein 7C", "sequence": { "length": 619, "sequence": "MANDIDELIGIPFPNHSSEVLCSLNEQRHAGLLCDVLLVVQEQEYRTHRSVLAACSKYFKKLFTAGSLASQPYVYEIDFVQPEALAAILEFAYTSTLTITASNVKHILNAARMLEIQCIVNVCLEIMEPGGSVGEEDDKEEEDEDDDDEDEDDEEEEEEEEEEEEDDPEDFADQENLPDPQDITCPQSPSKTDHLTEKDYSDTPRDFPDSFQPGSPGHLGVIRDFSIESLLRENLYPKANIPDRRPSLSPFAPEFFPHLWPGGFGAFAQLPEQPMDSGPLDLVIKNRKIKEEDKEELAPPPPPPFSSDFFKDMFPDLPGGPLGPIKAENDYGAYLNFLSATHLGSLFPPWPLVEERKLKPKASQQCPICHKVIMGAGKLPRHMRTHTGEKPYMCSICEVRFTRQDKLKIHMRKHTGERPYLCIHCNAKFVHNYDLKNHMRIHTGVRPYQCEFCYKSFTRSDHLHRHIKRQSCRMARPRRGRKPAAWRAASLLFGPGGPSADKAAFVMPPALGDVGGHLGGTAVCLPGPSPAKHFLASPKGTLSLQELERQFEETQMKLFGRAQLEAERNAGGLLALALAENVAATRPYFPLPDPWAAGLAGLPGLTGLNHVASMSEANN" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/17070", "id": "17070", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "P", "start_pos": 318, "alt_nt": "A", "chr_id": "18", "ref_nt": "G", "chr_pos": "45566526", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck neoplasm", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck tumours", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head/neck neoplasm", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "tumor of head and neck", "id": "DOID:11934" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "name": "head and neck cancer", "id": "DOID:11934" } }, { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "BT - Brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult malignant brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm, adult", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of adult brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "tumor of the Brain", "id": "DOID:1319" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "name": "brain cancer", "id": "DOID:1319" } }, { "synonyms": [], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "frequency": "0.1", "sequence_mut": "L", "subjects_tested": "980", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 318, "minor_allelic_frequency": "", "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1YPR0", "id": "A1YPR0", "database": "BioMuta" } ] }, { "sequence_org": "E", "start_pos": 44, "alt_nt": "G", "chr_id": "18", "ref_nt": "C", "chr_pos": "45567349", "disease": [ { "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "frequency": "1.0", "sequence_mut": "Q", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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