{ "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": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1YPR0", "id": "A1YPR0", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "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/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/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" }, { "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/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/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/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" } ], "uniprot_ac": "A1YPR0", "site_annotation": [ { "end_pos": 17, "annotation": "n_glycosylation_sequon", "start_pos": 15 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1YPR0#A1YPR0-1", "isoform_ac": "A1YPR0-1", "locus": { "end_pos": 48029263, "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#A0A1B0GXF8-1", "isoform_ac": "A0A1B0GXF8-1", "locus": { "end_pos": 48040910, "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#B2RG63-1", "isoform_ac": "B2RG63-1", "locus": { "end_pos": 48041033, "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#B2RG53-1", "isoform_ac": "B2RG53-1", "locus": { "end_pos": 48041054, "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#B2RG76-1", "isoform_ac": "B2RG76-1", "locus": { "end_pos": 48041063, "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.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" } ] }, { "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": "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": "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" } ] } ], "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" } ], "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" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "A", "start_pos": 617, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1YPR0", "id": "A1YPR0", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "T", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 617, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." }, { "sequence_org": "D", "start_pos": 593, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "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/A1YPR0", "id": "A1YPR0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "H", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 593, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "D", "start_pos": 501, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "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/A1YPR0", "id": "A1YPR0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 501, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "V", "start_pos": 611, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "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/A1YPR0", "id": "A1YPR0", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "M", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 611, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "P", "start_pos": 318, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck neoplasm", "description": "" }, { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck tumours", "description": "" }, { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head/neck neoplasm", "description": "" }, { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "tumor of head and neck", "description": "" } ], "recommended_name": { "id": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A1YPR0", "name": "ZBTB7C", "locus": { "end_pos": 48026673, "start_pos": 48410752, "chromosome": "18", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000184828", "id": "ENSG00000184828", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1YPR0", "type": "synonym", "resource": "RefSeq", "name": "zinc finger and BTB domain containing 36; B230208J24Rik; zinc finger and BTB domain-containing protein 36; affected by papillomavirus DNA integration in ME180 cells protein 1; zinc finger protein 857C" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1YPR0", "type": "synonym", "resource": "RefSeq", "name": "zinc finger and BTB domain-containing protein 7C" }, { "url": "https://www.uniprot.org/uniprot/A1YPR0", "type": "synonym", "resource": "UniProtKB", "name": "Zinc finger and BTB domain-containing protein 36" }, { "url": "https://www.uniprot.org/uniprot/A1YPR0", "type": "recommended", "resource": "UniProtKB", "name": "Zinc finger and BTB domain-containing protein 7C" }, { "url": "https://www.uniprot.org/uniprot/A1YPR0", "type": "synonym", "resource": "UniProtKB", "name": "APM-1" }, { "url": "https://www.uniprot.org/uniprot/A1YPR0", "type": "synonym", "resource": "UniProtKB", "name": "Zinc finger protein 857C" }, { "url": "https://www.uniprot.org/uniprot/A1YPR0", "type": "synonym", "resource": "UniProtKB", "name": "Affected by papillomavirus DNA integration in ME180 cells protein 1" } ] }