{ "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=2 SV=1 CANONICAL=A2A2Y4-1", "length": 597, "sequence": "MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTMCFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNLLLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKAAREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESGIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYMLGCS" }, "uniprot_id": "FRMD3_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "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", "site_annotation": [ { "end_pos": 361, "annotation": "n_glycosylation_sequon", "start_pos": 359 }, { "end_pos": 409, "annotation": "n_glycosylation_sequon", "start_pos": 407 }, { "end_pos": 92, "annotation": "n_glycosylation_sequon", "start_pos": 90 } ], "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=2 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=2 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=2 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=2 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=2 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=2 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": "" } ], "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": "D3ZR47-1", "protein_name": "FERM domain-containing 3", "sequence": { "length": 500, "sequence": "MFASCHCAPRGRRTMKMIHFRSSSIKSLNQEMKCTIRLLDDSEVSCRIQRETKGQFLIEYICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKSSPYTMCFRVKFTHEPLKIKELTRYLLYLQIKRDIFHGRLLCSFTDAAYLGACIVQAEFGDYYPDEHPENYISEFEIFPKQSQKLERKIMEIHNNELRGQSPAMAEFNLLLKAHTLETYGVDPHPCKDSRGATAFLGFTAAGFVVFQGNKRIHLRKWYAKSSQIKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQRDPPEVHRVNITQSRSFHSLNKQLIINMEPLQPLLPSPTEQEEEVPMGEGTPLPKMDVSESLISSSPVKGAQCADPPDEEEDRLKEDPLTISELAYNPSASLLPTPVDDDEINMLFDCPSRLELEREDTDSFEELEADENAFLIAEEEELKEARQALSWSYSILTGRIWVNPLVKSFSRLLVVGLGLLLFVFPLLLLLLESVSMP" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2A2Y4/", "id": "A2A2Y4", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "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", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "L", "start_pos": 186, "alt_nt": "G", "chr_id": "9", "ref_nt": "A", "chr_pos": "85950470", "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/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 186, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "F", "start_pos": 326, "alt_nt": "C", "chr_id": "9", "ref_nt": "A", "chr_pos": "85914052", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "V", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "end_pos": 326, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 422, "alt_nt": "T", "chr_id": "9", "ref_nt": "C", "chr_pos": "85863362", "disease": [ { "synonyms": [ { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "2.1", "sequence_mut": "Q", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%).", "end_pos": 422, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 485, "alt_nt": "A", "chr_id": "9", "ref_nt": "C", "chr_pos": "85863174", "disease": [ { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 485, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "ac": "NP_001231888.1", "name": "FERM domain-containing protein 3 isoform 2", "summary": "The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "cytoskeletal protein binding", "id": "GO:0008092" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "cytoskeleton", "id": "GO:0005856" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Y4", "id": "A2A2Y4", "database": "UniProtKB" } ], "name": "actomyosin structure organization", "id": "GO:0031032" } ], "total": 1, "name": "Biological Process" } ] }, "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" } ], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172159", "id": "ENSG00000172159", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Y4", "id": "A2A2Y4", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14473", "id": "cd14473", "database": "CDD" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD3", "id": "FRMD3", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/257019", "id": "257019", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24125", "id": "24125", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2A2Y4*", "id": "A2A2Y4", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000299", "id": "IPR000299", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000798", "id": "IPR000798", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "id": "IPR011993", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014352", "id": "IPR014352", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014847", "id": "IPR014847", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018979", "id": "IPR018979", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018980", "id": "IPR018980", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019747", "id": "IPR019747", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019748", "id": "IPR019748", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019749", "id": "IPR019749", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029071", "id": "IPR029071", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035963", "id": "IPR035963", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:257019", "id": "hsa:257019", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/607619", "id": "607619", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A2A2Y4", "id": "NX_A2A2Y4", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/EVHRTNI/", "id": "EVHRTNI", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=484046at2759", "id": "484046at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00373", "id": "PF00373", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF08736", "id": "PF08736", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF09379", "id": "PF09379", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF09380", "id": "PF09380", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2A2Y4", "id": "A2A2Y4", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2A2Y4", "id": "PR_A2A2Y4", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231888.1", "id": "NP_001231888.1", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Down", "disease": [ { "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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "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/bioxpress/transcriptview/A2A2Y4", "id": "A2A2Y4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "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", 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protein 3; protein 4.1O; ovary type protein 4.1; band 4.1-like protein 4O" } ] }