{ "uniprot_canonical_ac": "A0PJY2-1", "ptm_annotation": [], "sequence": { "header": "sp|A0PJY2-1|FEZF1_HUMAN Isoform 1 of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1", "length": 475, "sequence": "MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ" }, "uniprot_id": "FEZF1_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJY2", "id": "A0PJY2", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19318583", "type": [ "PubMed" ], "id": "19318583" } ], "title": "Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene.", "journal": "Cancer Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJY2", "id": "A0PJY2", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ], "authors": "Kim H.T., Kim J.M., Song I.S., Kim N.S., Yoo H.S., Jeong S.Y., Ha G.H., Kim C.H., Kim D.I., Oh N.S.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19401682", "type": [ "PubMed" ], "id": "19401682" } ], "title": "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.", "journal": "Molecular psychiatry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ], "authors": "Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21170990", "type": [ "PubMed" ], "id": "21170990" } ], "title": "Human ZNF312b oncogene is regulated by Sp1 binding to its promoter region through DNA demethylation and histone acetylation in gastric cancer.", "journal": "International journal of cancer", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ], "authors": "Song IS, Ha GH, Kim JM, Jeong SY, Lee HC, Kim YS, Kim YJ, Kwon TK, Kim NS", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24913420", "type": [ "PubMed" ], "id": "24913420" } ], "title": "Fez family transcription factors: controlling neurogenesis and cell fate in the developing mammalian nervous system.", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ], "authors": "Eckler MJ, Chen B", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25192046", "type": [ "PubMed" ], "id": "25192046" } ], "title": "Mutations in FEZF1 cause Kallmann syndrome.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJY2", "id": "A0PJY2", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ], "authors": "Topaloglu A.K., Kotan L.D., Yuksel B., Wray S., Bicakci Y.K., Cheng P.J., Demirel F., Esen I., Gurbuz F., Hutchins B.I., Mengen E., Ozkan Y., Stoner H.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29510777", "type": [ "PubMed" ], "id": "29510777" } ], "title": "lncRNA FEZF1-AS1 Is Associated With Prognosis in Lung Adenocarcinoma and Promotes Cell Proliferation, Migration, and Invasion.", "journal": "Oncology research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ], "authors": "Liu Z, Zhao P, Han Y, Lu S", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30030762", "type": [ "PubMed" ], "id": "30030762" } ], "title": "Over-Expressed FEZF1 Predicts a Poor Prognosis in Glioma and Promotes Glioma Cell Malignant Biological Properties by Regulating Akt-ERK Pathway.", "journal": "Journal of molecular neuroscience : MN", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ], "authors": "Yu M, Yu S, Xue Y, Yu H, Chen D, Wei X, Liu Y", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30355645", "type": [ "PubMed" ], "id": "30355645" } ], "title": "FEZF1-AS1 is a key regulator of cell cycle, epithelial-mesenchymal transition and Wnt/beta-catenin signaling in nasopharyngeal carcinoma cells.", "journal": "Bioscience reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ], "authors": "Cheng Y", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30416194", "type": [ "PubMed" ], "id": "30416194" } ], "title": "Long Noncoding RNA FEZF1-AS1 Promotes Proliferation and Inhibits Apoptosis in Ovarian Cancer by Activation of JAK-STAT3 Pathway.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ], "authors": "Zhao X, Cheng Z, Wang J", "date": "2018" } ], "uniprot_ac": "A0PJY2", "site_annotation": [ { "end_pos": 152, "annotation": "n_glycosylation_sequon", "start_pos": 150 }, { "end_pos": 276, "annotation": "n_glycosylation_sequon", "start_pos": 274 }, { "end_pos": 328, "annotation": "n_glycosylation_sequon", "start_pos": 326 }, { "end_pos": 388, "annotation": "n_glycosylation_sequon", "start_pos": 386 }, { "end_pos": 70, "annotation": "n_glycosylation_sequon", "start_pos": 68 }, { "end_pos": 9, "annotation": "n_glycosylation_sequon", "start_pos": 7 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0PJY2#A0PJY2-1", "isoform_ac": "A0PJY2-1", "locus": { "end_pos": 122302000, "strand": "+", "start_pos": 122304437, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000442488", "id": "ENST00000442488", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000411145", "id": "ENSP00000411145", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PJY2-1|FEZF1_HUMAN Isoform 1 of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1", "length": 475, "sequence": "MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ" } }, { "url": "https://www.uniprot.org/uniprot/A0PJY2#A0PJY2-2", "isoform_ac": "A0PJY2-2", "locus": { "end_pos": 122302000, "strand": "+", "start_pos": 122304437, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000427185", "id": "ENST00000427185", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000392727", "id": "ENSP00000392727", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PJY2-2|FEZF1_HUMAN Isoform 2 of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1", "length": 425, "sequence": "MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ" } }, { "url": "https://www.uniprot.org/uniprot/A0PJY2#A0PJY2-3", "isoform_ac": "A0PJY2-3", "locus": {}, "sequence": { "header": "sp|A0PJY2-3|FEZF1_HUMAN Isoform 3 of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1", "length": 471, "sequence": "MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ" } }, { "url": "https://www.uniprot.org/uniprot/A0PJY2#C9J0C5-1", "isoform_ac": "C9J0C5-1", "locus": { "end_pos": 122304333, "strand": "+", "start_pos": 122304437, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000418046", "id": "ENST00000418046", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000406919", "id": "ENSP00000406919", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9J0C5-1|FEZF1_HUMAN Computationally mapped isoform of Fez family zinc finger protein 1 OS=Homo sapiens OX=9606 GN=FEZF1 PE=1 SV=1 CANONICAL=A0PJY2-1", "length": 35, "sequence": "MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIER" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:389549", "resource": "KEGG Pathway", "id": "hsa:389549", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "annotation": "FEZF1 was significantly increased in glioma tissues. Over-expressed FIZF1 was associated with reduced survival.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "annotation": "FEZF1-AS1 might be a key regulator of cell cycle, EMT and Wnt/beta-catenin signaling in NPC cells. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "annotation": "FEZF1-AS1 regulated activation of JAK-STAT3 signaling pathway by modulating STAT3 phosphorylation. Knockdown of FEZF1-AS1 significantly impaired the phosphorylation of STAT3. Study demonstrated that FEZF1-AS1 exerted an oncogenic role in ovarian cancer via modulating JAK-STAT3 pathway. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "annotation": "Fezf1 and Fezf2 accomplish both independent and redundant functions across diverse tissue and cell types. [Review] Review article", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "annotation": "Mutations in FEZF1 cause Kallmann syndrome.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "annotation": "Our findings suggested that dysregulation of FEZF1-AS1 contributed to the progression of lung adenocarcinoma (LAD), which might be a potential target for LAD therapy.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "annotation": "Study is the first to report that ZNF312b, a novel transcription factor, was associated with tumorigenicity of gastric cancer. Erratum:[Cancer Res. 2009 May 1;69(9):4092]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "annotation": "The aberrant expression of ZNF312b promotes gastric tumorigenesis through epigenetic modification of its promoter region and provides a molecular mechanism for ZNF312b expression to contribute to the progression of gastric cancer.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019784.2", "id": "NP_001019784.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A0PJY2#function", "annotation": "Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJY2#function", "id": "A0PJY2", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZPD6-1", "protein_name": "Similar to zinc finger protein 312 (Predicted)", "sequence": { "length": 475, "sequence": "MDSSCLNATTKMLATAPARGNVMSTSKPLAFSIERIMARTPEPKALPVPHFLQGAVPKGDPKHSLHLNSSIPCMIPFVPVAYDTNSKAGVNGSEPRKASLEVPAPPAVAPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKLPSGVAFKDLSQAQLHNYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLTRTPTGEPGSDPPPQLQQPPPAPLPPLQPTLPPPGPLQSGLHQGHQ" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19252", "id": "19252", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0PJY2/", "id": "A0PJY2", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q0VDQ9-1", "protein_name": "Fez family zinc finger protein 1", "sequence": { "length": 475, "sequence": "MDSSCLNATTKMLATAPARGNVMSTSKPLAFSIERIMARTPEPKALPVPHFLQGAVPKGDPKHSLHLNSSIPCMIPFVPVAYDTNSKAGVNGSEPRKASLEVPAPPAVAPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAASVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVEKLPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVRKLHDSSLGLTRTPTGEPSSDPPPQLQQPPPAPLPPLQPTLPPPGPLPSGLHQGHQ" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19252", "id": "19252", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0PJY2/", "id": "A0PJY2", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Q", "start_pos": 227, "alt_nt": "A", "chr_id": "7", "ref_nt": "C", "chr_pos": "121943811", "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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJY2", "id": "A0PJY2", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "H", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs1184831141.", "end_pos": 227, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "Q", "start_pos": 227, "alt_nt": "A", "chr_id": "7", "ref_nt": "T", "chr_pos": "121943812", "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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJY2", "id": "A0PJY2", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "L", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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