{ "uniprot_canonical_ac": "A0FGR9-1", "ptm_annotation": [], "sequence": { "header": "sp|A0FGR9-1|ESYT3_HUMAN Isoform 1 of Extended synaptotagmin-3 OS=Homo sapiens OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1", "length": 886, "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCGVIRVHLLEAEQLAQKDNFLGLRGKSDPYAKVSIGLQHFRSRTIYRNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDTDRDDFLGSLQICLGDVMTNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDQEVLTEDHGGLSTAILVVFLESACNLPRNPFDYLNGEYRAKKLSRFARNKVSKDPSSYVKLSVGKKTHTSKTCPHNKDPVWSQVFSFFVHNVATERLHLKVLDDDQECALGMLEVPLCQILPYADLTLEQRFQLDHSGLDSLISMRLVLRFLQVEERELGSPYTGPEALKKGPLLIKKVATNQGPKAQPQEEGPTDLPCPPDPASDTKDVSRSTTTTTSATTVATEPTSQETGPEPKGKDSAKRFCEPIGEKKSPATIFLTVPGPHSPGPIKSPRPMKCPASPFAWPPKRLAPSMSSLNSLASSCFDLADISLNIEGGDLRRRQLGEIQLTVRYVCLRRCLSVLINGCRNLTPCTSSGADPYVRVYLLPERKWACRKKTSVKRKTLEPLFDETFEFFVPMEEVKKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKEDLIKGFSQWYELTPNGQPRS" }, "uniprot_id": "ESYT3_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11543631", "type": [ "PubMed" ], "id": "11543631" } ], "title": "Genomic analysis of synaptotagmin genes.", "journal": "Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "authors": "Craxton M.A.", "date": "2001" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17360437", "type": [ "PubMed" ], "id": "17360437" } ], "title": "E-Syts, a family of membranous Ca2+-sensor proteins with multiple C2 domains.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "authors": "Suedhof T.C., Chang W.-P., Min S.-W.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17672888", "type": [ "PubMed" ], "id": "17672888" } ], "title": "Evolutionary genomics of plant genes encoding N-terminal-TM-C2 domain proteins and the similar FAM62 genes and synaptotagmin genes of metazoans.", "journal": "BMC genomics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Craxton M", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21733517", "type": [ "PubMed" ], "id": "21733517" } ], "title": "Fine mapping of chromosome 3q22.3 identifies two haplotype blocks in ESYT3 associated with coronary artery disease in female Han Chinese.", "journal": "Atherosclerosis", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Jiang F, Dong Y, Wu C, Yang X, Zhao L, Guo J, Li Y, Dong J, Zheng GY, Cao H, Jin L, Ren Y, Cheng W, Li W, Tian XL, Li X", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23791178", "type": [ "PubMed" ], "id": "23791178" } ], "title": "PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins.", "journal": "Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Gracheva E.O., De Camilli P., Borgese N., Pirruccello M., Bagriantsev S.N., Colombo S.F., Giordano F., Idevall-Hagren O., Milosevic I., Saheki Y.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25922075", "type": [ "PubMed" ], "id": "25922075" } ], "title": "Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Tremblay MG, Herdman C, Guillou F, Mishra PK, Baril J, Bellenfant S, Moss T", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27065097", "type": [ "PubMed" ], "id": "27065097" } ], "title": "Control of plasma membrane lipid homeostasis by the extended synaptotagmins.", "journal": "Nature cell biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Saheki Y, Bian X, Schauder CM, Sawaki Y, Surma MA, Klose C, Pincet F, Reinisch KM, De Camilli P", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30220461", "type": [ "PubMed" ], "id": "30220461" } ], "title": "Aster proteins facilitate nonvesicular plasma membrane to ER cholesterol transport in mammalian cells.", "journal": "Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Jiang H., Li S., He C., Xiao X., Young S.G., Ikonen E., Lee R., Gatta A.T., Levine T.P., Hong C., Ferrari A., Fairall L., Tontonoz P., Schwabe J.W.R., Lee S.D., Sandhu J., Pfisterer S.G., Bentolila L.A., Ferng A., Ford D.A., Gurnett J.E., Hartman C.L., Orozco J.L., Strugatsky D., Vashi D., Weston T.A.", "date": "2018" } ], "uniprot_ac": "A0FGR9", "site_annotation": [ { "end_pos": 253, "annotation": "n_glycosylation_sequon", "start_pos": 251 }, { "end_pos": 413, "annotation": "n_glycosylation_sequon", "start_pos": 411 }, { "end_pos": 782, "annotation": "n_glycosylation_sequon", "start_pos": 780 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9#A0FGR9-1", "isoform_ac": "A0FGR9-1", "locus": { "end_pos": 138434799, "strand": "-", "start_pos": 138476851, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389567", "id": "ENST00000389567", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374218", "id": "ENSP00000374218", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0FGR9-1|ESYT3_HUMAN Isoform 1 of Extended synaptotagmin-3 OS=Homo sapiens OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1", "length": 886, "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCGVIRVHLLEAEQLAQKDNFLGLRGKSDPYAKVSIGLQHFRSRTIYRNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDTDRDDFLGSLQICLGDVMTNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDQEVLTEDHGGLSTAILVVFLESACNLPRNPFDYLNGEYRAKKLSRFARNKVSKDPSSYVKLSVGKKTHTSKTCPHNKDPVWSQVFSFFVHNVATERLHLKVLDDDQECALGMLEVPLCQILPYADLTLEQRFQLDHSGLDSLISMRLVLRFLQVEERELGSPYTGPEALKKGPLLIKKVATNQGPKAQPQEEGPTDLPCPPDPASDTKDVSRSTTTTTSATTVATEPTSQETGPEPKGKDSAKRFCEPIGEKKSPATIFLTVPGPHSPGPIKSPRPMKCPASPFAWPPKRLAPSMSSLNSLASSCFDLADISLNIEGGDLRRRQLGEIQLTVRYVCLRRCLSVLINGCRNLTPCTSSGADPYVRVYLLPERKWACRKKTSVKRKTLEPLFDETFEFFVPMEEVKKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKEDLIKGFSQWYELTPNGQPRS" } }, { "url": "https://www.uniprot.org/uniprot/A0FGR9#A0FGR9-2", "isoform_ac": "A0FGR9-2", "locus": { "end_pos": 138434799, "strand": "-", "start_pos": 138469500, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000490835", "id": "ENST00000490835", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417388", "id": "ENSP00000417388", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0FGR9-2|ESYT3_HUMAN Isoform 2 of Extended synaptotagmin-3 OS=Homo sapiens OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1", "length": 501, "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCGVIRVHLLEAEQLAQKDNFLGLRGKSDPYAKVSIGLQHFRSRTIYRNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDTDRDDFLGSLQICLGDVMTNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDQEVLTEDHGGLSTAILVVFLESACNLPRNPFDYLNGEYRAKKLSRFARVKQGQQRPFFLCQTICRQEDTYK" } }, { "url": "https://www.uniprot.org/uniprot/A0FGR9#H7BXJ6-1", "isoform_ac": "H7BXJ6-1", "locus": { "end_pos": 138434799, "strand": "-", "start_pos": 138462221, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000289135", "id": "ENST00000289135", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000289135", "id": "ENSP00000289135", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BXJ6-1|ESYT3_HUMAN Computationally mapped isoform of Extended synaptotagmin-3 OS=Homo sapiens OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1", "length": 310, "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCVSTQY" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:83850", "resource": "KEGG Pathway", "id": "hsa:83850", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660662", "resource": "Reactome", "id": "R-HSA-1660662", "name": "Glycosphingolipid metabolism" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9#function", "annotation": "Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9#function", "id": "A0FGR9", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "annotation": "ESyt2 and ESyt3, but not ESyt1, interact with activated FGFR1. Erratum:[J Biol Chem. 2016 Feb 12;291(7):3173. PMID: 26873909]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "annotation": "The extended synaptotagmins (E-Syt1, E-Syt2, and E-Syt3) are endoplasmic reticulum-anchored proteins. They form homo- and heteromeric complexes that mediate contacts with the plasma membrane. Such contacts are critically dependent on the presence of PI(4,5)P2 in this membrane and are additionally regulated by cytosolic Ca2+ via the Ca2+-sensing property of E-Syt1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "annotation": "Two haplotype blocks of ESYT3 gene in 3q22.3 region that likely harbor functional variants and have a role in coronary artery disease in females", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZC04-1", "protein_name": "Extended synaptotagmin 3", "sequence": { "length": 890, "sequence": "MQPEESCAGSAPPGPDVPERRQRSPDPEPRLSGQLLPELYSFVARVLFYLAPVYLAGYLGLSVTWLLLGALLWMWWRRNRRGKLGRLEAAFEFLEHEREFISRELRGQHLPAWIHFPDVERVEWANKIITQIWPYLSMIMENKIREKLEPKIREKSIHLRTFTFTKLYFGQKCPKVNGVKAHTDKCNRRKVTLDLQICYIGDCEISVELQKIRAGVNGVQLQGTLRVILEPLLVDKPFIGAVTVFFLQKPHLQINWTGLTNLLDMPGINELSDSLLEDLIAAHLVLPNRVTVPVKKGLDITSLRVPLPCGVIRVHLLEAKKLAQKDNFLGLGGKSDPYAKVSIGLQQCRSRTVYKNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDADRDDFLGSLQISLGDVMKNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDPEALENDSGLSTAILVVFLENACNLPRNPFDYLNGEYRAKKLSRFVKNKASRDPSSYVKLSVGKKTFTSKTCPHSKDPVWSQVFSFFVHSVAAEQLCLKVLDDELECALGVLEFPLCQILSCADLTLEQCFQLDHSGLDSLISMRLVLRFLRVGERELGSPYTGPDALKKGPLFVKKVDTNQGCKAPTLKEDLTDVTSILNPASYIKGASKSTDNISVATKAPEPKPEPQETGLEPKGKDGATGLCESLGRKKNPATTFLTVPGPHSPGPIKSPRPMSRPAFPFAWPLTRVAPSMSSLNSLASSCFDLTDVSFNTESGDCRLRRLGEIQLTVRYVCLRHCLRVLVNGCRNLTPCTSSGADPYVRIYLLPERRWASRKKTSVKQKTLEPLFDETFEFFVPMGEVQKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKQDLIKGFSQWYELTPDGQPRS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0FGR9/", "id": "A0FGR9", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18626", "id": "18626", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Esyt3", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q5DTI8-1", "protein_name": "Extended synaptotagmin-3", "sequence": { "length": 891, "sequence": "MQPEEPCAPSAPGGPDVPERGQRSRDPGPRLSGQLLPELYSFVARVLFYLAPVYLAGYLGLSVTWLLLGALLWMWWRRNRRGKLGRLEAAFEFLEHEREFISRELRGQHLPAWIHFPDVERVEWANKIIIQIWPYLSMIMENKIREKLEPKIREKSIHLRTFTFTKLYFGQKCPKVNGVKVHTDKRNRRKVTLDLQICYIGDCEISVELQKIRGGVSGVQLQGTLRVILEPLLVDKPFIGAVTVFFLQKPHLQINWTGLTNLLDMPGINELSDSLLEDLIAAHLVLPNRVTVPVKKGLDVTNLRVPLPCGVIRVHLLEAKKLAQKDNFLGLGGKSDPYAKVSIGLQHCRSRTIYKNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDTDKDDFLGSLQICLGDVMKNRVVDEWFALNDTTSGRLHLRLEWLSLLTDQEALTENDSGLSTAILVVFLENACNLPRNPFDYLNGEYRAKKLSRFVKNKASRDPSSYVKLTVGKKTFTSKTCPHSKDPVWSQVFSFFVHSVAAEQLCLKVLDDELECALGVLEFPLCRILPCADLTLEQCFQLDHSGLDSLISMRLVLRFLRVEGRELGSPYTGPDALKKGPLFIKKVATNQGCKAPPLNEGLADVTSTSNPASYIKGASKSIDNISAATTDPEPMPEPQGPGPEPKGKDSARGLCESPGKKKNPATTFLTVPGLHSPGPIKSPRPMSRPAFPFAWPLTRVAPSMSSLNSLASSCFDLTDVSLNTEAGDSRQGRLGEIQLTVRYVCLRHCLRVLVNGCRNLTPCTSSGADPYVRIYLLPERRWASRKKTSVKQKTLEPLFDETFEFFVPMGEVQKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKQDLIKGFSQWYELTADGQPRS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0FGR9/", "id": "A0FGR9", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18626", "id": "18626", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Esyt3", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "A", "start_pos": 17, "alt_nt": "A", "chr_id": "3", "ref_nt": "G", "chr_pos": "138153689", "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/A0FGR9", "id": "A0FGR9", "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": 17, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "Q", "start_pos": 244, "alt_nt": "G", "chr_id": "3", "ref_nt": "A", "chr_pos": "138178869", "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/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 244, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 277, "alt_nt": "T", "chr_id": "3", "ref_nt": "C", "chr_pos": "138180963", "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/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 277, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "start_pos": 28, "alt_nt": "C", "chr_id": "3", "ref_nt": "T", "chr_pos": "138153722", "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/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "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": 28, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "L", "start_pos": 296, "alt_nt": "G", "chr_id": "3", "ref_nt": "C", "chr_pos": "138181019", "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/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.1", "sequence_mut": "V", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%).", "end_pos": 296, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "F", "start_pos": 301, "alt_nt": "C", "chr_id": "3", "ref_nt": "T", "chr_pos": "138181034", "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/A0FGR9", "id": "A0FGR9", "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": 301, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "E", "start_pos": 359, "alt_nt": "A", "chr_id": "3", "ref_nt": "G", "chr_pos": "138183346", "disease": [ { "synonyms": [ { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." } }, { "synonyms": [ { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } }, { "synonyms": [ { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." } }, { "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/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.1", "sequence_mut": "K", "subjects_tested": "1044", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "end_pos": 359, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "start_pos": 370, "alt_nt": "A", "chr_id": "3", "ref_nt": "G", "chr_pos": "138184203", "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/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "E", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 370, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "start_pos": 415, "alt_nt": "T", "chr_id": "3", "ref_nt": "G", "chr_pos": "138186972", "disease": [ { "synonyms": [ { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "1.3", "sequence_mut": "I", "subjects_tested": "78", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.3%).", "end_pos": 415, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "H", "start_pos": 528, "alt_nt": "A", "chr_id": "3", "ref_nt": "C", "chr_pos": "138188980", "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/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "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": 528, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 565, "alt_nt": "A", "chr_id": "3", "ref_nt": "C", "chr_pos": "138189823", "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/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "E", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 565, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "T", "start_pos": 662, "alt_nt": "T", "chr_id": "3", "ref_nt": "A", "chr_pos": "138191448", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "S", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 662, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 806, "alt_nt": "T", "chr_id": "3", "ref_nt": "C", "chr_pos": "138193142", "disease": [ { "synonyms": [ { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } }, { "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." } }, { "synonyms": [ { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "C", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 806, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "start_pos": 857, "alt_nt": "C", "chr_id": "3", "ref_nt": "G", "chr_pos": "138195165", "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/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.0", "sequence_mut": "R", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "end_pos": 857, "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_001309760.1", "ac": "NP_001309760.1", "name": "extended synaptotagmin-3 isoform a", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "calcium ion binding", "id": "GO:0005509" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "calcium-dependent phospholipid binding", "id": "GO:0005544" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008429", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "phosphatidylethanolamine binding", "id": "GO:0008429" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "phosphatidylcholine binding", "id": "GO:0031210" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "phosphatidylinositol binding", "id": "GO:0035091" } ], "total": 5, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031227", "pmid": "23791178", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "intrinsic component of endoplasmic reticulum membrane", "id": "GO:0031227" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044232", "pmid": "23791178", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "organelle membrane contact site", "id": "GO:0044232" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005887", "pmid": "17360437", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "integral component of plasma membrane", "id": "GO:0005887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "pmid": "23791178", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140268", "pmid": "30220461", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "endoplasmic reticulum-plasma membrane contact site", "id": "GO:0140268" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "endoplasmic reticulum membrane", "id": "GO:0005789" } ], "total": 6, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "lipid transport", "id": "GO:0006869" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006687", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "glycosphingolipid metabolic process", "id": "GO:0006687" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061817", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "endoplasmic reticulum-plasma membrane tethering", "id": "GO:0061817" } ], "total": 3, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0FGR9", "type": "synonym", "resource": "RefSeq", "name": "CHR3SYT; E-Syt3; FAM62C" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0FGR9", "type": "synonym", "resource": "RefSeq", "name": "ESYT3" }, { "url": "https://www.uniprot.org/uniprot/A0FGR9", "type": "recommended", "resource": "UniProtKB", "name": "ESYT3" }, { "url": "https://www.uniprot.org/uniprot/A0FGR9", "type": "synonym", "resource": "UniProtKB", "name": "FAM62C" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04030", "id": "cd04030", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04050", "id": "cd04050", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08391", "id": "cd08391", "database": "CDD" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESYT3", "id": "ESYT3", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/83850", "id": "83850", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24295", "id": "24295", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0FGR9*", "id": "A0FGR9", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000008", "id": "IPR000008", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR031468", "id": "IPR031468", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035892", "id": "IPR035892", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037733", "id": "IPR037733", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037749", "id": "IPR037749", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037752", "id": "IPR037752", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR039010", "id": "IPR039010", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:83850", "id": "hsa:83850", "database": "KEGG Pathway" }, { "url": "https://www.nextprot.org/entry/NX_A0FGR9", "id": "NX_A0FGR9", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/ATNQGPK/", "id": "ATNQGPK", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=52746at2759", "id": "52746at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00168", "id": "PF00168", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF17047", "id": "PF17047", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A0FGR9", "id": "A0FGR9", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A0FGR9", "id": "PR_A0FGR9", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660662", "id": "R-HSA-1660662", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "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/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "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/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "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/A0FGR9", "id": "A0FGR9", "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", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "recommended_name": { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "recommended_name": { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "lung adenocarcinoma", "description": "A lung cancer that derives_from epithelial cells of glandular origin." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [], "mutagenesis": [], "disease": [], "phosphorylation": [ { "residue": "Tyr", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18452278", "id": "18452278", "database": "PubMed" } ], "start_pos": "366", "end_pos": "366", "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18452278", "id": "18452278", "database": "PubMed" } ], "start_pos": "390", "end_pos": "390", "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Thr", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18452278", "id": "18452278", "database": "PubMed" } ], "start_pos": "400", "end_pos": "400", "kinase_uniprot_canonical_ac": "Q6P1J9-1" } ], "mass": { "monoisotopic_mass": 100035.0, "chemical_mass": 100035.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "name": "ESYT3", "locus": { "end_pos": 138481686, "strand": "+", "start_pos": 138434586, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000158220", "id": "ENSG00000158220", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Chr3Syt" }, { "url": "https://www.uniprot.org/uniprot/A0FGR9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "E-Syt3" }, { "url": "https://www.uniprot.org/uniprot/A0FGR9#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Extended synaptotagmin-3" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0FGR9", "type": "synonym", "resource": "RefSeq", "name": "chr3 synaptotagmin; family with sequence similarity 62 (C2 domain containing), member C; extended synaptotagmin protein 3" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0FGR9", "type": "synonym", "resource": "RefSeq", "name": "extended synaptotagmin-3 isoform a" } ] }