{ "uniprot_canonical_ac": "A6NCI4-1", "ptm_annotation": [], "sequence": { "header": "sp|A6NCI4-1|VWA3A_HUMAN Isoform 1 of von Willebrand factor A domain-containing protein 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=2 SV=3 CANONICAL=A6NCI4-1", "length": 1184, "sequence": "MKKYRKISIGCFAMATQTSHVFHGQENMFLENHCIRRNTGRDSKKPLKQKNMNGLGQNSDNGLLVTHVNQTQDLLRLQGSETQSSDWEDSEDWLSAHSLKCQKLTLADLISQGTEVLEEGTNVVQKICFSTQIIRHFESKLSDTIEVYQERIQWLTENSKKAFGLIKGARVSILIDVSAISSGPQKEEFQKDLMSLIDEQLSHKEKLFVLSFGTNAGSLWPDPMEVSASTLQELKLWVKTLQPDGGSNLLQALKKIFTLKGLDSLVAIMRSCPDQPSEILSDYIQQSTMGRDLIIHFITYRCDDQMPPAVLKNLAEAVRGYYHCYSPKMEHYTSRDMDELLAEIQKAQSLLSHVQALQHSSPCEALTCTMEEISTEITNGPLISLLPKPPKHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPAAAQPTKEGMMELRRKTKSREAETSLLLFYTEKGNDVGSVYKKYPQGRGLRRTSSSIDLPRKDTVCSSQEWVAKYGLKKLKLEISRCMGPNCTHQKSGQRSASAKHCSIFPSVEIHGVVRHIQWTPREMEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS" }, "uniprot_id": "VWA3A_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCI4", "id": "A6NCI4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [], "uniprot_ac": "A6NCI4", "site_annotation": [ { "end_pos": 1092, "annotation": "n_glycosylation_sequon", "start_pos": 1090 }, { "end_pos": 71, "annotation": "n_glycosylation_sequon", "start_pos": 69 }, { "end_pos": 711, "annotation": "n_glycosylation_sequon", "start_pos": 709 }, { "end_pos": 725, "annotation": "n_glycosylation_sequon", "start_pos": 723 }, { "end_pos": 887, "annotation": "n_glycosylation_sequon", "start_pos": 885 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6NCI4#A6NCI4-1", "isoform_ac": "A6NCI4-1", "locus": { "end_pos": 22092638, "strand": "-", "start_pos": 22155899, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389398", "id": "ENST00000389398", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374049", "id": "ENSP00000374049", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NCI4-1|VWA3A_HUMAN Isoform 1 of von Willebrand factor A domain-containing protein 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=2 SV=3 CANONICAL=A6NCI4-1", "length": 1184, "sequence": "MKKYRKISIGCFAMATQTSHVFHGQENMFLENHCIRRNTGRDSKKPLKQKNMNGLGQNSDNGLLVTHVNQTQDLLRLQGSETQSSDWEDSEDWLSAHSLKCQKLTLADLISQGTEVLEEGTNVVQKICFSTQIIRHFESKLSDTIEVYQERIQWLTENSKKAFGLIKGARVSILIDVSAISSGPQKEEFQKDLMSLIDEQLSHKEKLFVLSFGTNAGSLWPDPMEVSASTLQELKLWVKTLQPDGGSNLLQALKKIFTLKGLDSLVAIMRSCPDQPSEILSDYIQQSTMGRDLIIHFITYRCDDQMPPAVLKNLAEAVRGYYHCYSPKMEHYTSRDMDELLAEIQKAQSLLSHVQALQHSSPCEALTCTMEEISTEITNGPLISLLPKPPKHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPAAAQPTKEGMMELRRKTKSREAETSLLLFYTEKGNDVGSVYKKYPQGRGLRRTSSSIDLPRKDTVCSSQEWVAKYGLKKLKLEISRCMGPNCTHQKSGQRSASAKHCSIFPSVEIHGVVRHIQWTPREMEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS" } }, { "url": "https://www.uniprot.org/uniprot/A6NCI4#A6NCI4-2", "isoform_ac": "A6NCI4-2", "locus": {}, "sequence": { "header": "sp|A6NCI4-2|VWA3A_HUMAN Isoform 2 of von Willebrand factor A domain-containing protein 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=2 SV=3 CANONICAL=A6NCI4-1", "length": 808, "sequence": "MKKYRKISLLPKPPKHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPAAAQPTKEGMMELRRKTKSREAETSLLLFYTEKGNDVGSVYKKYPQGRGLRRTSSSIDLPRKDTVCSSQEWVAKYGLKKLKLEISRCMGPNCTHQKSGQRSASAKHCSIFPSVEIHGVVRHIQWTPREMEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS" } }, { "url": "https://www.uniprot.org/uniprot/A6NCI4#A6NCI4-3", "isoform_ac": "A6NCI4-3", "locus": {}, "sequence": { "header": "sp|A6NCI4-3|VWA3A_HUMAN Isoform 3 of von Willebrand factor A domain-containing protein 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=2 SV=3 CANONICAL=A6NCI4-1", "length": 262, "sequence": "MEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS" } }, { "url": "https://www.uniprot.org/uniprot/A6NCI4#A6NCI4-4", "isoform_ac": "A6NCI4-4", "locus": { "end_pos": 22146272, "strand": "-", "start_pos": 22155899, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000563755", "id": "ENST00000563755", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000456513", "id": "ENSP00000456513", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NCI4-4|VWA3A_HUMAN Isoform 4 of von Willebrand factor A domain-containing protein 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=2 SV=3 CANONICAL=A6NCI4-1", "length": 286, "sequence": "MEVYIRHLEKVLRRYVQRLQWLLSGPVLCSRTWYRQSMDRGVMMTAASGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS" } }, { "url": "https://www.uniprot.org/uniprot/A6NCI4#H3BTG8-1", "isoform_ac": "H3BTG8-1", "locus": { "end_pos": 22131712, "strand": "-", "start_pos": 22138515, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000563389", "id": "ENST00000563389", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457167", "id": "ENSP00000457167", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BTG8-1|VWA3A_HUMAN Computationally mapped isoform of von Willebrand factor A domain-containing protein 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=2 SV=1 CANONICAL=A6NCI4-1", "length": 147, "sequence": "IPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMV" } }, { "url": "https://www.uniprot.org/uniprot/A6NCI4#H3BTX3-1", "isoform_ac": "H3BTX3-1", "locus": { "end_pos": 22109578, "strand": "-", "start_pos": 22110977, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000567131", "id": "ENST00000567131", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457368", "id": "ENSP00000457368", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BTX3-1|VWA3A_HUMAN Computationally mapped isoform of von Willebrand factor A domain-containing protein 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=2 SV=1 CANONICAL=A6NCI4-1", "length": 31, "sequence": "MSLIDEQLSHKEKLFVLSFGTNAGSLWPDPM" } }, { "url": "https://www.uniprot.org/uniprot/A6NCI4#H3BUS3-1", "isoform_ac": "H3BUS3-1", "locus": { "end_pos": 22092638, "strand": "-", "start_pos": 22138395, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000568328", "id": "ENST00000568328", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457770", "id": "ENSP00000457770", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BUS3-1|VWA3A_HUMAN Computationally mapped isoform of von Willebrand factor A domain-containing protein 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=2 SV=8 CANONICAL=A6NCI4-1", "length": 746, "sequence": "MKKYRKISIGCFAMATQTSHVFHGQENMFLENHCIRRNTGRDSKKPLKQKNMNGLGQNSDNGLLVTHVNQTQDLLRLQGSETQSSDWEDSEDWLSAHSLKCQKLTLADLISQGTEVLEEGTNVVQKICFSTQIIRHFESKLSDTIEVYQERIQWLTENSKKAFGLIKGARVSILIDVSAISSGPQKEEFQKDLMSLIDEQLSHKEKLFVLSFGTNAGSLWPDPMEVSASTLQELKLWVKTLQPDGGSNLLQALKKIFTLKGLDSLVAIMRSCPDQPSEILSDYIQQSTMGRDLIIHFITYRCDDQMPPAVLKNLAEAVRGYYHCYSPKMEHYTSRDMDELLAEIQKAQSLLSHVQALQHSSPCEALTCTMEEISTEITNGPLISLLPKPPKHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQWNDYTAWIPRDLTHHSLKPTQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHS" } }, { "url": "https://www.uniprot.org/uniprot/A6NCI4#H7BXL8-1", "isoform_ac": "H7BXL8-1", "locus": { "end_pos": 22121024, "strand": "-", "start_pos": 22141610, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000299840", "id": "ENST00000299840", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000299840", "id": "ENSP00000299840", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BXL8-1|VWA3A_HUMAN Computationally mapped isoform of von Willebrand factor A domain-containing protein 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=2 SV=1 CANONICAL=A6NCI4-1", "length": 429, "sequence": "XHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPGMAEWLRAEFWSQQDQLRPSQRKKG" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:146177", "resource": "KEGG Pathway", "id": "hsa:146177", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "A1A5Q7-1", "protein_name": "von Willebrand factor A domain-containing protein 3A", "sequence": { "length": 737, "sequence": "MKKHRWSMDRNTDRDPQKQLNQKTMNDVTQNSQDGLLVTHVNQTQDLLRLQRSETQTSALEDSEDWLAMHSLKFEKLTLADLISQGTVELEDQNNAVPKVHFTTQTIYHFTSRLSDTIELYQQRMRWLTENSKKAFGLIKGSRVGLLIDSSQVSSGPQTEEFQNDLTSLIDEQLSLKEKLYVLTFGGTTNFLWPDPVEVSASTLQELKLWVKTLQPEGSSNLLQALKKVLARKELNSLVAILRSCPDQPSEFLSDFIQQSTLGRSLFIHIVTYKCDDHVPSAILKNLTDALGGHYHCYSPESELYTSRDVDELLAETHKAQGLFSQLQALCHNNPCEELSCMIEEISTEIAKGPFTSLLPKPPKHEAPLTIKFPDLDKTSAEWLKINGLKAKKLGLYQVLAPNAFNPVEEFVPILQKTVGATIHEKAMVQFEWHDGTVKNIHVDPPVLFEYQKQLGKAVQIYEKRLQWLSLTSRRFWGTVCQRRVVILLDVSVTNSMFIIHIQHSLRLLLEEQLSNKDYFNIIAFGSTVESWRPEMVAVSHDNLQRAWRWALGLQCQGSRNVLGALRKAIEVDFKDKTKHESQGIYLFTGGVPDQDVHILSAYVAEACGGCDLQLNVCLFYVGEPQMNTTPPACYASRTDTAAAYKEVTQAACGRFHWFGETGIYESDDSNAIVSEIEKALNYSQKCAFLVASLKNHSGKELLTAALQKDKPRTLQQSQPKKLYPPKPTAPSVARMV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/18607", "id": "18607", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Vwa3a", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q3UVV9-1", "protein_name": "von Willebrand factor A domain-containing protein 3A", "sequence": { "length": 1148, "sequence": "MKKCRWSMDRNTDRDPQKQENKKTMNDLAQTSQDGLLVTHVNQTQDLLQLQGRETQTSALEDSEDWLAMHSLKFEKLTLADLISQGTVELEDCNNAVPKVHFTTQTIHHFKSRLSDTIELYQQRMRWLTENSKKAFGLIKGSRVGLLIDSSQVSSGSQTKEFQNDLTGLIDEQLSLKEKLYVLSFGVTINPLWPDPMEVSTSTLQELKLWVKTLQPEGSSNLLQALKKVFAHKELNSLVIILRSCPDQPSEFLSDFIQQSTLGRSVFIHVTTYKCDDHVPSAVLKNLTDALGGYYHCYSPESELYTSRDVVELQVETHKAQGLLSQVQALCHNNPCEELSCMIKEISIEIAKGPFTSLLPKPPKHEAPLTIKFPDLDKTSAEWLKINGLKAKKLSLYQVLAPNAFNPVEEFVPILQKTVAATIHEKAMVQFEWHDGTVKNIHVDPPVLFEYQKQLGKAVQIYEHRLQWLSLTSRRIWGTVCQRRVVILLDVSVTNSMYIIHIQHSLRLLLEEQLSNKDYFNIIAFGSTIESWRPEMVAVSHDNLQRAWRWALGLQCQGSRNVLGALRKAIEVDFKDKNKHESQGIYLFTGGIPDQDVHILSAYVAEAYGGCDLQLNVCLFYVGEPQMDTTPPACYASRTDTATAYKEITQAARGRFHWFGETGIYESDDINAIVSEIEKALNYSQKCAFLVASLKNHSEKELQSGALEKDKPRTLKQSQPKKHYPPKPTAPSVARMSIKDGLDGETSSRLKALKCHPVNAAAQPEKEGTVEQRMKTKPRTRPKLFLFYTEAGNSVGSVYKRYTQGKSIRRINSSIQLPRKDTVCSSQEWTATCRLKRLKLELSKCLGPNCRYQKSVRGPALAEHCTLFPSIEINGVVRHIQWTLWEMETYITCMEKVTRCYVQRLHWLLSGSRRLFGTILERNVCILLDTSGSMGPHLQWIKTELVLLIWEQLRKHCARFNLLSFAEDLQLWQDTLVESTEAACHKAMQWVAHLQAQGSTSVLAALTKAFSFQDVQGLYLLTDGKPDTSCSLILNTVQSFQKERGVKVHTISLTSADRTATEFLRELASLSGGRYHCPVSDKALSGIQGLLTRGFIKERDPKLPLFEGDDLRLLAEEFTRARNLLKQAQVFRSQLLKKNNMKSKVTSC" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/18607", "id": "18607", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Vwa3a", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "S", "start_pos": 1125, "alt_nt": "A", "chr_id": "16", "ref_nt": "G", "chr_pos": "22163924", "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/A6NCI4", "id": "A6NCI4", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "N", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1125, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "start_pos": 1130, "alt_nt": "T", "chr_id": "16", "ref_nt": "G", "chr_pos": "22163938", "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/A6NCI4", "id": "A6NCI4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "C", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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