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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A6NCI4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NCI4" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NCI4" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NCI4", "url": "https://www.uniprot.org/uniprot/A6NCI4" } ], "common_name": "Human" } ], "gene": [ { "name": "VWA3A", "url": "https://www.uniprot.org/uniprot/A6NCI4", "locus": { "chromosome": "16", "start_pos": 22156964, "end_pos": 22092538, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000175267", "url": "https://www.ensembl.org/id/ENSG00000175267" } ] } } ], "crossref": [ { "id": "ENSG00000175267", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175267", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A6NCI4", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCI4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "VWA3A", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA3A", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "146177", "url": "https://www.ncbi.nlm.nih.gov/gene/146177", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "27088", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=27088", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A6NCI4", "url": "https://www.ebi.ac.uk/intact/interactors/id:A6NCI4*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002035", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002035", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036465", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036465", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:146177", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:146177", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_A6NCI4", "url": "https://www.nextprot.org/entry/NX_A6NCI4", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "PNCTHQK", "url": "https://omabrowser.org/oma/group/PNCTHQK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5396918at2759", "url": "http://www.orthodb.org/?query=5396918at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46478", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46478", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46478:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46478:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13768", "url": "http://pfam.xfam.org/family/PF13768", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6NCI4", "url": "https://pharos.nih.gov/targets/A6NCI4", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6NCI4", "url": "http://purl.obolibrary.org/obo/PR_A6NCI4", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_775886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775886", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A6NCI4", "url": "https://www.uniprot.org/uniprot/A6NCI4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NCI4-1", "url": "https://www.uniprot.org/uniprot/A6NCI4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NCI4-2", "url": "https://www.uniprot.org/uniprot/A6NCI4-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NCI4-3", "url": "https://www.uniprot.org/uniprot/A6NCI4-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NCI4-4", "url": "https://www.uniprot.org/uniprot/A6NCI4-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTG8", "url": "https://www.uniprot.org/uniprot/H3BTG8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTG8-1", "url": "https://www.uniprot.org/uniprot/H3BTG8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTX3", "url": "https://www.uniprot.org/uniprot/H3BTX3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTX3-1", "url": "https://www.uniprot.org/uniprot/H3BTX3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUS3", "url": "https://www.uniprot.org/uniprot/H3BUS3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUS3-1", "url": "https://www.uniprot.org/uniprot/H3BUS3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BXL8", "url": "https://www.uniprot.org/uniprot/H7BXL8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BXL8-1", "url": "https://www.uniprot.org/uniprot/H7BXL8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKKYRKISIGCFAMATQTSHVFHGQENMFLENHCIRRNTGRDSKKPLKQKNMNGLGQNSDNGLLVTHVNQTQDLLRLQGSETQSSDWEDSEDWLSAHSLKCQKLTLADLISQGTEVLEEGTNVVQKICFSTQIIRHFESKLSDTIEVYQERIQWLTENSKKAFGLIKGARVSILIDVSAISSGPQKEEFQKDLMSLIDEQLSHKEKLFVLSFGTNAGSLWPDPMEVSASTLQELKLWVKTLQPDGGSNLLQALKKIFTLKGLDSLVAIMRSCPDQPSEILSDYIQQSTMGRDLIIHFITYRCDDQMPPAVLKNLAEAVRGYYHCYSPKMEHYTSRDMDELLAEIQKAQSLLSHVQALQHSSPCEALTCTMEEISTEITNGPLISLLPKPPKHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPAAAQPTKEGMMELRRKTKSREAETSLLLFYTEKGNDVGSVYKKYPQGRGLRRTSSSIDLPRKDTVCSSQEWVAKYGLKKLKLEISRCMGPNCTHQKSGQRSASAKHCSIFPSVEIHGVVRHIQWTPREMEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS", "length": 1184, "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" }, "isoforms": [ { "isoform_ac": "A6NCI4-1", "url": "", "sequence": { "sequence": "MKKYRKISIGCFAMATQTSHVFHGQENMFLENHCIRRNTGRDSKKPLKQKNMNGLGQNSDNGLLVTHVNQTQDLLRLQGSETQSSDWEDSEDWLSAHSLKCQKLTLADLISQGTEVLEEGTNVVQKICFSTQIIRHFESKLSDTIEVYQERIQWLTENSKKAFGLIKGARVSILIDVSAISSGPQKEEFQKDLMSLIDEQLSHKEKLFVLSFGTNAGSLWPDPMEVSASTLQELKLWVKTLQPDGGSNLLQALKKIFTLKGLDSLVAIMRSCPDQPSEILSDYIQQSTMGRDLIIHFITYRCDDQMPPAVLKNLAEAVRGYYHCYSPKMEHYTSRDMDELLAEIQKAQSLLSHVQALQHSSPCEALTCTMEEISTEITNGPLISLLPKPPKHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPAAAQPTKEGMMELRRKTKSREAETSLLLFYTEKGNDVGSVYKKYPQGRGLRRTSSSIDLPRKDTVCSSQEWVAKYGLKKLKLEISRCMGPNCTHQKSGQRSASAKHCSIFPSVEIHGVVRHIQWTPREMEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS", "length": 1184, "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" }, "locus": { "chromosome": "16", "start_pos": 22155899, "end_pos": 22092638, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000389398.10", "url": "https://www.ensembl.org/id/ENST00000389398.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000374049.5", "url": "https://www.ensembl.org/id/ENSP00000374049.5" } ] } }, { "isoform_ac": "A6NCI4-2", "url": "", "sequence": { "sequence": "MKKYRKISLLPKPPKHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPAAAQPTKEGMMELRRKTKSREAETSLLLFYTEKGNDVGSVYKKYPQGRGLRRTSSSIDLPRKDTVCSSQEWVAKYGLKKLKLEISRCMGPNCTHQKSGQRSASAKHCSIFPSVEIHGVVRHIQWTPREMEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS", "length": 808, "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" }, "locus": {} }, { "isoform_ac": "A6NCI4-3", "url": "", "sequence": { "sequence": "MEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS", "length": 262, "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" }, "locus": {} }, { "isoform_ac": "A6NCI4-4", "url": "", "sequence": { "sequence": "MEVYIRHLEKVLRRYVQRLQWLLSGPVLCSRTWYRQSMDRGVMMTAASGSRRLFGTVLESKVCILLDTSGSMGPYLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHLQAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTISLNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDDLRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS", "length": 286, "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" }, "locus": { "chromosome": "16", "start_pos": 22155899, "end_pos": 22146272, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563755.1", "url": "https://www.ensembl.org/id/ENST00000563755.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456513.1", "url": "https://www.ensembl.org/id/ENSP00000456513.1" } ] } }, { "isoform_ac": "H3BTG8-1", "url": "", "sequence": { "sequence": "IPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMV", "length": 147, "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" }, "locus": { "chromosome": "16", "start_pos": 22138515, "end_pos": 22131712, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563389.1", "url": "https://www.ensembl.org/id/ENST00000563389.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457167.1", "url": "https://www.ensembl.org/id/ENSP00000457167.1" } ] } }, { "isoform_ac": "H3BTX3-1", "url": "", "sequence": { "sequence": "MSLIDEQLSHKEKLFVLSFGTNAGSLWPDPM", "length": 31, "header": "tr|H3BTX3-1|H3BTX3_HUMAN Computationally mapped isoform of von Willebrand factor A domain containing 3A OS=Homo sapiens OX=9606 GN=VWA3A PE=4 SV=1 CANONICAL=A6NCI4-1" }, "locus": { "chromosome": "16", "start_pos": 22110977, "end_pos": 22109578, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567131.5", "url": "https://www.ensembl.org/id/ENST00000567131.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457368.1", "url": "https://www.ensembl.org/id/ENSP00000457368.1" } ] } }, { "isoform_ac": "H3BUS3-1", "url": "", "sequence": { "sequence": "MKKYRKISIGCFAMATQTSHVFHGQENMFLENHCIRRNTGRDSKKPLKQKNMNGLGQNSDNGLLVTHVNQTQDLLRLQGSETQSSDWEDSEDWLSAHSLKCQKLTLADLISQGTEVLEEGTNVVQKICFSTQIIRHFESKLSDTIEVYQERIQWLTENSKKAFGLIKGARVSILIDVSAISSGPQKEEFQKDLMSLIDEQLSHKEKLFVLSFGTNAGSLWPDPMEVSASTLQELKLWVKTLQPDGGSNLLQALKKIFTLKGLDSLVAIMRSCPDQPSEILSDYIQQSTMGRDLIIHFITYRCDDQMPPAVLKNLAEAVRGYYHCYSPKMEHYTSRDMDELLAEIQKAQSLLSHVQALQHSSPCEALTCTMEEISTEITNGPLISLLPKPPKHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQWNDYTAWIPRDLTHHSLKPTQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHS", "length": 746, "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" }, "locus": { "chromosome": "16", "start_pos": 22138395, "end_pos": 22092638, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568328.5", "url": "https://www.ensembl.org/id/ENST00000568328.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457770.1", "url": "https://www.ensembl.org/id/ENSP00000457770.1" } ] } }, { "isoform_ac": "H7BXL8-1", "url": "", "sequence": { "sequence": "XHDAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTIHEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVCEKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPVSHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDMPTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGRFHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPKTLQLRSQPKKLCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPGMAEWLRAEFWSQQDQLRPSQRKKG", "length": 429, "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" }, "locus": { "chromosome": "16", "start_pos": 22141610, "end_pos": 22121024, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299840.10", "url": "https://www.ensembl.org/id/ENST00000299840.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000299840.6", "url": "https://www.ensembl.org/id/ENSP00000299840.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 709, "start_aa": "Asn", "end_pos": 709, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn709", "evidence": [ { "id": "A6NCI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NCI4#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [], "pathway": [ { "id": "hsa:146177", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:146177", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A1A5Q7-1", "protein_name": "von Willebrand factor A domain-containing protein 3A", "gene_name": "Vwa3a", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKKHRWSMDRNTDRDPQKQLNQKTMNDVTQNSQDGLLVTHVNQTQDLLRLQRSETQTSALEDSEDWLAMHSLKFEKLTLADLISQGTVELEDQNNAVPKVHFTTQTIYHFTSRLSDTIELYQQRMRWLTENSKKAFGLIKGSRVGLLIDSSQVSSGPQTEEFQNDLTSLIDEQLSLKEKLYVLTFGGTTNFLWPDPVEVSASTLQELKLWVKTLQPEGSSNLLQALKKVLARKELNSLVAILRSCPDQPSEFLSDFIQQSTLGRSLFIHIVTYKCDDHVPSAILKNLTDALGGHYHCYSPESELYTSRDVDELLAETHKAQGLFSQLQALCHNNPCEELSCMIEEISTEIAKGPFTSLLPKPPKHEAPLTIKFPDLDKTSAEWLKINGLKAKKLGLYQVLAPNAFNPVEEFVPILQKTVGATIHEKAMVQFEWHDGTVKNIHVDPPVLFEYQKQLGKAVQIYEKRLQWLSLTSRRFWGTVCQRRVVILLDVSVTNSMFIIHIQHSLRLLLEEQLSNKDYFNIIAFGSTVESWRPEMVAVSHDNLQRAWRWALGLQCQGSRNVLGALRKAIEVDFKDKTKHESQGIYLFTGGVPDQDVHILSAYVAEACGGCDLQLNVCLFYVGEPQMNTTPPACYASRTDTAAAYKEVTQAACGRFHWFGETGIYESDDSNAIVSEIEKALNYSQKCAFLVASLKNHSGKELLTAALQKDKPRTLQQSQPKKLYPPKPTAPSVARMV", "length": 737 }, "evidence": [ { "id": "45931163", "url": "http://www.informatics.jax.org/homology/45931163", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q3UVV9-1", "protein_name": "von Willebrand factor A domain-containing protein 3A", "gene_name": "Vwa3a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKKCRWSMDRNTDRDPQKQENKKTMNDLAQTSQDGLLVTHVNQTQDLLQLQGRETQTSALEDSEDWLAMHSLKFEKLTLADLISQGTVELEDCNNAVPKVHFTTQTIHHFKSRLSDTIELYQQRMRWLTENSKKAFGLIKGSRVGLLIDSSQVSSGSQTKEFQNDLTGLIDEQLSLKEKLYVLSFGVTINPLWPDPMEVSTSTLQELKLWVKTLQPEGSSNLLQALKKVFAHKELNSLVIILRSCPDQPSEFLSDFIQQSTLGRSVFIHVTTYKCDDHVPSAVLKNLTDALGGYYHCYSPESELYTSRDVVELQVETHKAQGLLSQVQALCHNNPCEELSCMIKEISIEIAKGPFTSLLPKPPKHEAPLTIKFPDLDKTSAEWLKINGLKAKKLSLYQVLAPNAFNPVEEFVPILQKTVAATIHEKAMVQFEWHDGTVKNIHVDPPVLFEYQKQLGKAVQIYEHRLQWLSLTSRRIWGTVCQRRVVILLDVSVTNSMYIIHIQHSLRLLLEEQLSNKDYFNIIAFGSTIESWRPEMVAVSHDNLQRAWRWALGLQCQGSRNVLGALRKAIEVDFKDKNKHESQGIYLFTGGIPDQDVHILSAYVAEAYGGCDLQLNVCLFYVGEPQMDTTPPACYASRTDTATAYKEITQAARGRFHWFGETGIYESDDINAIVSEIEKALNYSQKCAFLVASLKNHSEKELQSGALEKDKPRTLKQSQPKKHYPPKPTAPSVARMSIKDGLDGETSSRLKALKCHPVNAAAQPEKEGTVEQRMKTKPRTRPKLFLFYTEAGNSVGSVYKRYTQGKSIRRINSSIQLPRKDTVCSSQEWTATCRLKRLKLELSKCLGPNCRYQKSVRGPALAEHCTLFPSIEINGVVRHIQWTLWEMETYITCMEKVTRCYVQRLHWLLSGSRRLFGTILERNVCILLDTSGSMGPHLQWIKTELVLLIWEQLRKHCARFNLLSFAEDLQLWQDTLVESTEAACHKAMQWVAHLQAQGSTSVLAALTKAFSFQDVQGLYLLTDGKPDTSCSLILNTVQSFQKERGVKVHTISLTSADRTATEFLRELASLSGGRYHCPVSDKALSGIQGLLTRGFIKERDPKLPLFEGDDLRLLAEEFTRARNLLKQAQVFRSQLLKKNNMKSKVTSC", "length": 1148 }, "evidence": [ { "id": "45931163", "url": "http://www.informatics.jax.org/homology/45931163", "database": "MGI" }, { "id": "A6NCI4", "url": "https://omabrowser.org/oma/group/A6NCI4/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A6NCI4", "url": "https://www.uniprot.org/uniprot/A6NCI4" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1090, "end_pos": 1092, "annotation": "n_glycosylation_sequon" }, { "start_pos": 69, "end_pos": 71, "annotation": "n_glycosylation_sequon" }, { "start_pos": 709, "end_pos": 711, "annotation": "n_glycosylation_sequon" }, { "start_pos": 723, "end_pos": 725, "annotation": "n_glycosylation_sequon" }, { "start_pos": 885, "end_pos": 887, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 709 ], "o_linked_sites": [], "snv_sites": [ 53, 80, 404, 405, 462, 517, 524, 550, 664, 700, 709, 1177 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 1090, "end_pos": 1092 }, { "start_pos": 69, "end_pos": 71 }, { "start_pos": 709, "end_pos": 711 }, { "start_pos": 723, "end_pos": 725 }, { "start_pos": 885, "end_pos": 887 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }