{ "uniprot_canonical_ac": "A2A2Y4-1", "ptm_annotation": [], "sequence": { "header": "sp|A2A2Y4-1|FRMD3_HUMAN Isoform 1 of FERM domain-containing protein 3 OS=Homo sapiens OX=9606 GN=FRMD3 PE=1 SV=1 CANONICAL=A2A2Y4-1", "length": 597, "sequence": "MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS" }, "uniprot_id": "", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12601556", "type": "PubMed", "id": "12601556" } ], "title": "Molecular cloning and characterization of the protein 4.1O gene, a novel member of the protein 4.1 family with focal expression in ovary.", "journal": "J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "authors": "Gu S., Ji C., Mao Y., Cheng H., Ying K., Cao G., Guo L., Ni X., Zhao R.C.", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17260017", "type": "PubMed", "id": "17260017" } ], "title": "FRMD3, a novel putative tumour suppressor in NSCLC.", "journal": "Oncogene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ], "authors": "Angel P., Hartenstein B., Hess J., Haase D., Meister M., Muley T., Schnabel P., Teurich S.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19252134", "type": "PubMed", "id": "19252134" } ], "title": "Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes.", "journal": "Diabetes", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ], "authors": "Pezzolesi MG, Poznik GD, Mychaleckyj JC, Paterson AD, Barati MT, Klein JB, Ng DP, Placha G, Canani LH, Bochenski J, Waggott D, Merchant ML, Krolewski B, Mirea L, Wanic K, Katavetin P, Kure M, Wolkow P, Dunn JS, Smiles A, Walker WH, Boright AP, Bull SB, Doria A, Rogus JJ, Rich SS, Warram JH, Krolewski AS", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20460425", "type": "PubMed", "id": "20460425" } ], "title": "Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes.", "journal": "Diabetes", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ], "authors": "Maeda S, Araki S, Babazono T, Toyoda M, Umezono T, Kawai K, Imanishi M, Uzu T, Watada H, Suzuki D, Kashiwagi A, Iwamoto Y, Kaku K, Kawamori R, Nakamura Y", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21698141", "type": "PubMed", "id": "21698141" } ], "title": "Differential effects of MYH9 and APOL1 risk variants on FRMD3 Association with Diabetic ESRD in African Americans.", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ], "authors": "Freedman BI, Langefeld CD, Lu L, Divers J, Comeau ME, Kopp JB, Winkler CA, Nelson GW, Johnson RC, Palmer ND, Hicks PJ, Bostrom MA, Cooke JN, McDonough CW, Bowden DW", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23434934", "type": "PubMed", "id": "23434934" } ], "title": "From single nucleotide polymorphism to transcriptional mechanism: a model for FRMD3 in diabetic nephropathy.", "journal": "Diabetes", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ], "authors": "Martini S, Nair V, Patel SR, Eichinger F, Nelson RG, Weil EJ, Pezzolesi MG, Krolewski AS, Randolph A, Keller BJ, Werner T, Kretzler M", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26909942", "type": "PubMed", "id": "26909942" } ], "title": "Evaluation of associations between single nucleotide polymorphisms in the FRMD3 and CARS genes and diabetic nephropathy in a Kuwaiti population.", "journal": "Genetics and molecular research : GMR", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ], "authors": "Al-waheeb S, Alwohhaib M, Abdelghani A, Al-Sharrah S, Al-Shafey E, Al-Sahow A, Alyatama N, Dashti AA, Hussain N", "date": "2016" } ], "uniprot_ac": "A2A2Y4", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A2Y4", "type": "synonym", "resource": "RefSeq", "name": "4.1O; EPB41L4O; EPB41LO; P410" }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "type": "synonym", "resource": "UniProtKB", "name": "EPB41L4O" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2A2Y4", "type": "synonym", "resource": "RefSeq", "name": "FRMD3" }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "type": "recommended", "resource": "UniProtKB", "name": "FRMD3" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-1", "isoform_ac": "A2A2Y4-1", "locus": { "end_pos": 83247921, "strand": "+", "start_pos": 83538231, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000304195", "id": "ENST00000304195", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000303508", "id": "ENSP00000303508", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A2Y4-1|FRMD3_HUMAN Isoform 1 of FERM domain-containing protein 3 OS=Homo sapiens OX=9606 GN=FRMD3 PE=1 SV=1 CANONICAL=A2A2Y4-1", "length": 597, "sequence": "MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-2", "isoform_ac": "A2A2Y4-2", "locus": { "end_pos": 83243205, "strand": "+", "start_pos": 83538231, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000376438", "id": "ENST00000376438", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000365621", "id": "ENSP00000365621", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A2Y4-2|FRMD3_HUMAN Isoform 2 of FERM domain-containing protein 3 OS=Homo sapiens OX=9606 GN=FRMD3 PE=1 SV=1 CANONICAL=A2A2Y4-1", "length": 556, "sequence": "MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESVSMQ" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-3", "isoform_ac": "A2A2Y4-3", "locus": { "end_pos": 83243205, "strand": "+", "start_pos": 83331865, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000376434", "id": "ENST00000376434", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000365617", "id": "ENSP00000365617", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A2Y4-3|FRMD3_HUMAN Isoform 3 of FERM domain-containing protein 3 OS=Homo sapiens OX=9606 GN=FRMD3 PE=1 SV=1 CANONICAL=A2A2Y4-1", "length": 362, "sequence": "MVFRRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESVSMQ" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-4", "isoform_ac": "A2A2Y4-4", "locus": { "end_pos": 83243205, "strand": "+", "start_pos": 83267177, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000328788", "id": "ENST00000328788", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000328615", "id": "ENSP00000328615", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A2Y4-4|FRMD3_HUMAN Isoform 4 of FERM domain-containing protein 3 OS=Homo sapiens OX=9606 GN=FRMD3 PE=1 SV=1 CANONICAL=A2A2Y4-1", "length": 213, "sequence": "MQAEETKGIGITSMAKCLVKIQTRRSLQLHMVNHCNSNVFVRLLRLGSKVTARNTGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESVSMQ" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#A2A2Y4-5", "isoform_ac": "A2A2Y4-5", "locus": { "end_pos": 83247921, "strand": "+", "start_pos": 83467632, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000621208", "id": "ENST00000621208", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000484839", "id": "ENSP00000484839", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A2Y4-5|FRMD3_HUMAN Isoform 5 of FERM domain-containing protein 3 OS=Homo sapiens OX=9606 GN=FRMD3 PE=1 SV=1 CANONICAL=A2A2Y4-1", "length": 553, "sequence": "MQLSKRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#Q5JV61-1", "isoform_ac": "Q5JV61-1", "locus": { "end_pos": 83297774, "strand": "+", "start_pos": 83311966, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000431299", "id": "ENST00000431299", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000412719", "id": "ENSP00000412719", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|Q5JV61-1|FRMD3_HUMAN Computationally mapped isoform of FERM domain-containing protein 3 OS=Homo sapiens OX=9606 GN=FRMD3 PE=1 SV=1 CANONICAL=A2A2Y4-1", "length": 140, "sequence": "GTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRCVQKKICSCFGVTW" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:257019", "resource": "KEGG Pathway", "id": "hsa:257019", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "annotation": "Identify FRMD3 as a novel putative tumour suppressor gene suggesting an important role in the origin and progression of lung cancer.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "annotation": "Model for FRMD3 in diabetic nephropathy proposes a possible transcriptional link through which the polymorphism in the FRMD3 promoter could influence transcriptional regulation within the bone morphogenetic protein (BMP)-signaling pathway", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2A2Y4#function", "annotation": "Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4#function", "id": "A2A2Y4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "annotation": "The risk (G and C) and non-risk (C and T) allele frequencies of the SNPs at the rs1888747 and rs739401 loci of FRMD3 and CARS, respectively, did not differ significantly between the diabetics with (case) and without (control) nephropathy (P > 0.05). Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "annotation": "These analyses reveal a role for FRMD3 in AA T2DN susceptibility.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8BHD4-1", "protein_name": "FERM domain-containing protein 3", "sequence": { "length": 595, "sequence": "MFASCHCAPRGRRTMKMIHFRSSSIKSLNQEMKCTIRLLDDSEVSCHIQRETKGQFLIEYICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKSHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAEFGDYYPDEHPENYISEFEIFPKQSQKLERKIMEIHNNELRGQSPAIAEFNLLLKAHTLETYGVDPHPCKDSRGATAFLGFTAAGFVVFQGNKRIHLRKWSDVCKLKFEGKTFYVIGSQKEKNAVLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQRDPPEVHRVNITQSRSFHSLNKQLIINMEPLQPLLPSPTEQEEEVPVGEGVPLPKMDVSEPLIASSPVKGAQCADPPDEEEDRVKEDPLTISELAYNPSASLLPTPVDDDEINMLFDCPSRLELEREDTDSFEELEADENAFLIAEEEELKEARQALSWSYSILTGHIWVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVNIVLYMLGCS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2A2Y4/", "id": "A2A2Y4", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/16012", "id": "16012", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Frmd3", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "L", "start_pos": 186, "alt_nt": "G", "chr_id": "9", "subjects_positive": "1", "chr_pos": "85950470", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 186, "minor_allelic_frequency": "", "ref_nt": "A" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "sequence_org": "F", "start_pos": 326, "alt_nt": "C", "chr_id": "9", "subjects_positive": "1", "chr_pos": "85914052", "disease": [ { "disease_id": "DOID:11054", "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" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": 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