{ "uniprot_canonical_ac": "A1L4K1-1", "ptm_annotation": [], "sequence": { "header": "sp|A1L4K1-1|FSD2_HUMAN Isoform 1 of Fibronectin type III and SPRY domain-containing protein 2 OS=Homo sapiens OX=9606 GN=FSD2 PE=1 SV=1 CANONICAL=A1L4K1-1", "length": 749, "sequence": "MEEESGEELGLDRSTPKDFHFYHMDLYDSEDRLHLFPEENTRMRKVVQAEMANESRGAGDGKAQRDLQEEVDELVHLYGLEDDHELGDEFVDENIPRTGVSEYPPYMMKRRDPAREQRDWRLSGEAAEAEDLGFGGWGSAGQCQDLREAYRYTHGRASEEYECYVIPEEEDEEEAADVFCVTCKTPIRAFQKVFDEHKEHEVIPLNEALESAKDEIHKNMYKLEKQIIEMENFANHLEEVFITVEENFGKQEQNFESHYNEILETLAQKYEEKIQALGEKKKEKLEALYGQLVSCGENLDTCKELMETIEEMCHEEKVDFIKDAVAMADRLGKFLKTKTDVEISAQPEFEDQTLDFSDVEQLMGSINTIPAPSAPVINPQVPNSATGSSVRVCWSLYSDDTVESYQLSYRPVQDSSPGTDQAEFTVTVKETYCSVTNLVPNTQYEFWVTAHNRAGPSPSSERAVYMTAPSPPIIKTKEIRSCEEAVLICWESGNLNPVDSYTVELTQAESPEASGVTESVVGIPTCESVVQLQPGRSYIIYVRALNMGGPSVRSEPATVHTIGSYFRLNKDTCHPWLTISEDGLTAVRSERRTPARELSPSDTHFTRCVAVMGNLIPVRGHHYWEVEVDEHLDYRVGVAFADVRKQEDLGANCLSWCMRHTFASSRHKYEFLHNRTTPDIRITVPPKKIGILLDYEHSKLSFFNVDLSQHLYTFSCQLHEFVHPCFSLEKPGCLKVHNGISMPKHVTFY" }, "uniprot_id": "FSD2_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4K1", "id": "A1L4K1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20966410", "type": [ "PubMed" ], "id": "20966410" } ], "title": "Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics.", "journal": "Stroke", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007123.1", "id": "NP_001007123.1", "database": "RefSeq" } ], "authors": "Dong C, Beecham A, Slifer S, Wang L, Blanton SH, Wright CB, Rundek T, Sacco RL", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25910212", "type": [ "PubMed" ], "id": "25910212" } ], "title": "Widespread macromolecular interaction perturbations in human genetic disorders.", "journal": "Cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007123.1", "id": "NP_001007123.1", "database": "RefSeq" } ], "authors": "Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J, Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovacs IA, Kamburov A, Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A, Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ, Sunyaev S, Berger B, Barabasi AL, Charloteaux B, Hill DE, Hao T, Roth FP, Xia Y, Walhout AJM, Lindquist S, Vidal M", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28740084", "type": [ "PubMed" ], "id": "28740084" } ], "title": "Ryanodine receptors are part of the myospryn complex in cardiac muscle.", "journal": "Scientific reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007123.1", "id": "NP_001007123.1", "database": "RefSeq" } ], "authors": "Benson MA, Tinsley CL, Waite AJ, Carlisle FA, Sweet SMM, Ehler E, George CH, Lai FA, Martin-Rendon E, Blake DJ", "date": "2017" } ], "uniprot_ac": "A1L4K1", "site_annotation": [ { "end_pos": 55, "annotation": "n_glycosylation_sequon", "start_pos": 53 }, { "end_pos": 676, "annotation": "n_glycosylation_sequon", "start_pos": 674 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1L4K1#A1L4K1-1", "isoform_ac": "A1L4K1-1", "locus": { "end_pos": 82759351, "strand": "+", "start_pos": 82787390, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000334574", "id": "ENST00000334574", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000335651", "id": "ENSP00000335651", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L4K1-1|FSD2_HUMAN Isoform 1 of Fibronectin type III and SPRY domain-containing protein 2 OS=Homo sapiens OX=9606 GN=FSD2 PE=1 SV=1 CANONICAL=A1L4K1-1", "length": 749, "sequence": "MEEESGEELGLDRSTPKDFHFYHMDLYDSEDRLHLFPEENTRMRKVVQAEMANESRGAGDGKAQRDLQEEVDELVHLYGLEDDHELGDEFVDENIPRTGVSEYPPYMMKRRDPAREQRDWRLSGEAAEAEDLGFGGWGSAGQCQDLREAYRYTHGRASEEYECYVIPEEEDEEEAADVFCVTCKTPIRAFQKVFDEHKEHEVIPLNEALESAKDEIHKNMYKLEKQIIEMENFANHLEEVFITVEENFGKQEQNFESHYNEILETLAQKYEEKIQALGEKKKEKLEALYGQLVSCGENLDTCKELMETIEEMCHEEKVDFIKDAVAMADRLGKFLKTKTDVEISAQPEFEDQTLDFSDVEQLMGSINTIPAPSAPVINPQVPNSATGSSVRVCWSLYSDDTVESYQLSYRPVQDSSPGTDQAEFTVTVKETYCSVTNLVPNTQYEFWVTAHNRAGPSPSSERAVYMTAPSPPIIKTKEIRSCEEAVLICWESGNLNPVDSYTVELTQAESPEASGVTESVVGIPTCESVVQLQPGRSYIIYVRALNMGGPSVRSEPATVHTIGSYFRLNKDTCHPWLTISEDGLTAVRSERRTPARELSPSDTHFTRCVAVMGNLIPVRGHHYWEVEVDEHLDYRVGVAFADVRKQEDLGANCLSWCMRHTFASSRHKYEFLHNRTTPDIRITVPPKKIGILLDYEHSKLSFFNVDLSQHLYTFSCQLHEFVHPCFSLEKPGCLKVHNGISMPKHVTFY" } }, { "url": "https://www.uniprot.org/uniprot/A1L4K1#A1L4K1-2", "isoform_ac": "A1L4K1-2", "locus": { "end_pos": 82759351, "strand": "+", "start_pos": 82787390, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000541889", "id": "ENST00000541889", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000444078", "id": "ENSP00000444078", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L4K1-2|FSD2_HUMAN Isoform 2 of Fibronectin type III and SPRY domain-containing protein 2 OS=Homo sapiens OX=9606 GN=FSD2 PE=1 SV=1 CANONICAL=A1L4K1-1", "length": 704, "sequence": "MEEESGEELGLDRSTPKDFHFYHMDLYDSEDRLHLFPEENTRMRKVVQAEMANESRGAGDGKAQRDLQEEVDELVHLYGLEDDHELGDEFVDENIPRTGVSEYPPYMMKRRDPAREQRDWRLSGEAAEAEDLGFGGWGSAGQCQDLREAYRYTHGRASEEYECYVIPEEEDEEEAADVFCVTCKTPIRAFQKVFDEHKEHEVIPLNEALESAKDEIHKNMYKLEKQIIEMENFANHLEEVFITVEENFGKQEQNFESHYNEILETLAQKYEEKIQALGEKKKEKLEALYGQLVSCGENLDTCKELMETIEEMCHEEKVDFIKDAVAMADRLGKFLKTKTDVEISAQPEFEDQTLDFSDVEQLMGSINTIPAPSAPVINPQVPNSATGSSVRVCWSLYSDDTVESYQLSYRPVQDSSPGTDQAAPSPPIIKTKEIRSCEEAVLICWESGNLNPVDSYTVELTQAESPEASGVTESVVGIPTCESVVQLQPGRSYIIYVRALNMGGPSVRSEPATVHTIGSYFRLNKDTCHPWLTISEDGLTAVRSERRTPARELSPSDTHFTRCVAVMGNLIPVRGHHYWEVEVDEHLDYRVGVAFADVRKQEDLGANCLSWCMRHTFASSRHKYEFLHNRTTPDIRITVPPKKIGILLDYEHSKLSFFNVDLSQHLYTFSCQLHEFVHPCFSLEKPGCLKVHNGISMPKHVTFY" } }, { "url": "https://www.uniprot.org/uniprot/A1L4K1#H0YLA8-1", "isoform_ac": "H0YLA8-1", "locus": { "end_pos": 82787088, "strand": "+", "start_pos": 82787390, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000561368", "id": "ENST00000561368", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000453127", "id": "ENSP00000453127", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YLA8-1|FSD2_HUMAN Computationally mapped isoform of Fibronectin type III and SPRY domain-containing protein 2 OS=Homo sapiens OX=9606 GN=FSD2 PE=1 SV=1 CANONICAL=A1L4K1-1", "length": 101, "sequence": "MEEESGEELGLDRSTPKDFHFYHMDLYDSEDRLHLFPEENTRMRKVVQAEMANESRGAGDGKAQRDLQEEVDELVHLYGLEDDHELGDEFVDENIPRTGVS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:123722", "resource": "KEGG Pathway", "id": "hsa:123722", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007123.1", "annotation": "Data identify a novel muscle-expressed TRIM-related protein minispryn, encoded by Fsd2, that has extensive sequence similarity with the C-terminus of Cmya5. They appear to have originated by a chromosomal duplication and are found within evolutionarily-conserved gene clusters on different chromosomes. Both proteins co-localize with RyR2 at the junctional sarcoplasmic reticulum of isolated cardiomyocytes. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007123.1", "id": "NP_001007123.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007123.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007123.1", "id": "NP_001007123.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4ADN6-1", "protein_name": "Fibronectin type III and SPRY domain-containing 2", "sequence": { "length": 746, "sequence": "MEEEAGEEPGLGRSTAPRDFHFYHMDLYDSEDRLQLFPGESSRTRREVTQAELTNEPRGAGDSKNLQKEVDALVHLYGLEDEHELGGEFVDEHRLGTLGYPYGMRRRDPGREQRDWGLSGEAAEAEDLCYGVQGPPDQCQDLREAYRYTHGRASEEYECYVIPEEEDEEEPADVFCVTCKTPVRTVEKDFDIHKEHEVTPINKALEHAKDEIHKNMCKLEQQIIEMENFASHLEEVFITVEENFGRQEQNFECHYNEILETLAQKYEEKIQALGEKKKEKLEALYGQLVSCGENLDACRELMETIEEMCHEEKVDFLKDAVAMTDRLGKFLKTKTDVELSAKPEFEDQTLDFSDVEQLMDSINTVPAPSAPVINPQAPNSATGSSVRVCWSLYSDDTVESYQLSYRPVQDSSPGKDQAEFTMTVKETYCSVKNLEPNTQYEFWVIAQNRTGPSPSSEHVVYMTAPSPPSIKTEAIRSCEEAVLICWESGNLNPVDSYTVELIQAETPEASGVTESVVGIPTCESLIQLQPRHSYTIYVRALNVGGTSARSKPATVHTTGSYFQLNKDTCHPWLTISEDGFTVVRSEKKRSFRRELPPSKAQFSRCVAVMGNLIPVRGRHYWEVEVDEHLDYTVGVACEDVPKQEDLGANRLSWCMRHTFASTRHRYEFLHNGTTPDIRITVAPKKIGVLLDYEDSKLSFFNVDIAQHLYTFSCPLHQFVHPCFSLEKSGGLKICNGISAPKHVTFF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/18252", "id": "18252", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Fsd2", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BZ52-1", "protein_name": "Fibronectin type III and SPRY domain-containing protein 2", "sequence": { "length": 716, "sequence": "MEEEAEEESGLGRSAAPKDFHFYHMDLYDSEDRLQLFPGDSSRIRREVTQAEDDRELGDEFVDEHRLGTLGYPSYGMRRRDPGREPRDWGEAAEAEDLGYGGGQGPLDQCQDLREAYRYTHGRASEEYECYVIPEEEDEEEPADVFCITCKTPVRTVEKDFDTHKEHEVTPISKALEHAKDEVHKNMCKLEQQIIEMENFASHLEEVFITVEENFGRQEQNFECHYNGILETLAQKYEEKIQALGEKKREKLEALYGQLVSCGENLDACRELMETVEEMCHEEKVEFLKDAVAMTDRLGKFLKTKTDVELSAQPEFEDQTLDFSDVEQLMDAINTIPAPSAPVINPQAPNSATGSSVRVCWSLYSDDTVESYQLSYRPVQDSSSGKDRAEFTMMVKETYCSVTNLEPNTQYEFWVIAQNRTGPSPCSEHAVYMTAPSPPSIKTEAIRSCEEAVLICWESGNLNPVDSYTVELIQAETPEASGVTESVVGIPTCESLIQLQPRHSYTIYVRALNVGGTSARSEPATVHTTGSYFQLNKDTCHPWLTISEDGFTVVRSEKKSFRKELPPSKTQFTRCVAVMGNLIPVRGRHYWEVEVAEHLDYTVGVACEDVPKQEDLGANSLSWCMRHTFVSKRHRYEFLHNKMTPDIRITVAPRKIGVLLDYENAKLSFFNVDIAQHLYTFSCQLHQFVHPCFSLEKSGCLKICNGISMPKHVTFF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/18252", "id": "18252", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A1L4K1/", "id": "A1L4K1", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Fsd2", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Q", "start_pos": 268, "alt_nt": "A", "chr_id": "15", "ref_nt": "G", "chr_pos": "83451711", "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/A1L4K1", "id": "A1L4K1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.0", "sequence_mut": "*", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "end_pos": 268, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "K", "start_pos": 333, "alt_nt": "G", "chr_id": "15", "ref_nt": "T", "chr_pos": "83447631", "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/A1L4K1", "id": "A1L4K1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "T", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 333, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "start_pos": 416, "alt_nt": "C", "chr_id": "15", "ref_nt": "G", "chr_pos": "83440845", "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/A1L4K1", "id": "A1L4K1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "1.1", "sequence_mut": "*", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs576560959.", "end_pos": 416, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "start_pos": 456, "alt_nt": "T", "chr_id": "15", "ref_nt": "G", "chr_pos": "83438537", "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/A1L4K1", "id": "A1L4K1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "H", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 456, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 666, "alt_nt": "C", "chr_id": "15", "ref_nt": "T", "chr_pos": "83430855", "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/A1L4K1", "id": "A1L4K1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "G", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 666, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "F", "start_pos": 671, "alt_nt": "T", "chr_id": "15", "ref_nt": "A", "chr_pos": "83428337", "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/A1L4K1", "id": "A1L4K1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 671, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007123.1", "ac": "NP_001007123.1", "name": "fibronectin type III and SPRY domain-containing protein 2 isoform a", "summary": "This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4K1", "id": "A1L4K1", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4K1", "id": "A1L4K1", "database": "UniProtKB" } ], "name": "perinuclear region of cytoplasm", "id": "GO:0048471" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4K1", "id": "A1L4K1", "database": "UniProtKB" } ], "name": "sarcoplasmic reticulum", "id": "GO:0016529" } ], "total": 3, "name": "Cellular Component" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1L4K1", "type": "synonym", "resource": "RefSeq", "name": "FSD2" }, { "url": 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"https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:123722", "id": "hsa:123722", "database": "KEGG Pathway" }, { "url": "https://www.nextprot.org/entry/NX_A1L4K1", "id": "NX_A1L4K1", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/HKNMFKL/", "id": "HKNMFKL", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=508782at2759", "id": "508782at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00041", "id": "PF00041", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00622", "id": "PF00622", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A1L4K1", "id": "A1L4K1", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A1L4K1", "id": "PR_A1L4K1", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007123.1", "id": "NP_001007123.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A1L4K1", "id": "A1L4K1", "database": "UniProtKB" } ], "expression_disease": 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