{ "uniprot_canonical_ac": "A5X5Y0-1", "ptm_annotation": [], "sequence": { "header": "sp|A5X5Y0-1|5HT3E_HUMAN Isoform 1 of 5-hydroxytryptamine receptor 3E OS=Homo sapiens OX=9606 GN=HTR3E PE=1 SV=1 CANONICAL=A5X5Y0-1", "length": 456, "sequence": "MEGSWFHRKRFSFYLLLGFLLQGRGVTFTINCSGFGQHGADPTALNSVFNRKPFRPVTNISVPTQVNISFAMSAILDVNEQLHLLSSFLWLEMVWDNPFISWNPEECEGITKMSMAAKNLWLPDIFIIELMDVDKTPKGLTAYVSNEGRIRYKKPMKVDSICNLDIFYFPFDQQNCTLTFSSFLYTVDSMLLDMEKEVWEITDASRNILQTHGEWELLGLSKATAKLSRGGNLYDQIVFYVAIRRRPSLYVINLLVPSGFLVAIDALSFYLPVKSGNRVPFKITLLLGYNVFLLMMSDLLPTSGTPLIGVYFALCLSLMVGSLLETIFITHLLHVATTQPPPLPRWLHSLLLHCNSPGRCCPTAPQKENKGPGLTPTHLPGVKEPEVSAGQMPGPAEAELTGGSEWTRAQREHEAQKQHSVELWLQFSHAMDAMLFRLYLLFMASSIITVICLWNT" }, "uniprot_id": "5HT3E_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0", "id": "A5X5Y0", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23928294", "type": [ "PubMed" ], "id": "23928294" } ], "title": "5-HT3 receptor influences the washing phenotype and visual organization in obsessive-compulsive disorder supporting 5-HT3 receptor antagonists as novel treatment option.", "journal": "European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ], "authors": "Lennertz L, Wagner M, Grabe HJ, Franke PE, Guttenthaler V, Rampacher F, Schulze-Rauschenbach S, Vogeley A, Benninghoff J, Ruhrmann S, Pukrop R, Klosterkotter J, Falkai P, Maier W, Mossner R", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17392525", "type": [ "PubMed" ], "id": "17392525" } ], "title": "Characterization of the novel human serotonin receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E.", "journal": "Mol. Pharmacol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0", "id": "A5X5Y0", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ], "authors": "Boenisch H., Bruess M., Combrink S., Goethert M., Kapeller J., Moeller D., Niesler B., Rappold G., Rietdorf J., Walstab J.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18614545", "type": [ "PubMed" ], "id": "18614545" } ], "title": "First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome.", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ], "authors": "Kapeller J, Houghton LA, Monnikes H, Walstab J, Moller D, Bonisch H, Burwinkel B, Autschbach F, Funke B, Lasitschka F, Gassler N, Fischer C, Whorwell PJ, Atkinson W, Fell C, Buchner KJ, Schmidtmann M, van der Voort I, Wisser AS, Berg T, Rappold G, Niesler B", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12801637", "type": [ "PubMed" ], "id": "12801637" } ], "title": "Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E.", "journal": "Gene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0", "id": "A5X5Y0", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ], "authors": "Frank B., Kapeller J., Niesler B., Rappold G.A.", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20602613", "type": [ "PubMed" ], "id": "20602613" } ], "title": "Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy.", "journal": "Pharmacogenomics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ], "authors": "Hammer C, Fasching PA, Loehberg CR, Rauh C, Ekici AB, Jud SM, Bani MR, Beckmann MW, Strick R, Niesler B", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19012743", "type": [ "PubMed" ], "id": "19012743" } ], "title": "Characterisation of 5-HT3C, 5-HT3D and 5-HT3E receptor subunits: evolution, distribution and function.", "journal": "J. Neurochem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0", "id": "A5X5Y0", "database": "UniProtKB" } ], "authors": "Balmer G., Courtenay N., Gill C.H., Gunthorpe M.J., Holbrook J.D., Kelly F.M., Leyland R., Luck J., Modha S., Moore S.E., Rance K.H., Rhodes A., Sanger G.J., Spencer J.P., Trinh H., Yusaf S.P., Zebda N.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21192076", "type": [ "PubMed" ], "id": "21192076" } ], "title": "Serotonin receptor diversity in the human colon: Expression of serotonin type 3 receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E.", "journal": "The Journal of comparative neurology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ], "authors": "Kapeller J, Moller D, Lasitschka F, Autschbach F, Hovius R, Rappold G, Bruss M, Gershon MD, Niesler B", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18573276", "type": [ "PubMed" ], "id": "18573276" } ], "title": "Central 5-HT receptors in cardiovascular control during stress.", "journal": "Neuroscience and biobehavioral reviews", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ], "authors": "Nalivaiko E, Sgoifo A", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/14597179", "type": [ "PubMed" ], "id": "14597179" } ], "title": "A cluster of novel serotonin receptor 3-like genes on human chromosome 3.", "journal": "Gene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0", "id": "A5X5Y0", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ], "authors": "Benjamin C.W., Fitzgerald L.R., Gotow L.F., Karnovsky A.M., McKinley D.D., Mills C.J., Piechan J.L., Roberds S.L., Ruble C.L., Schellin K.A.B., Slightom J.L.", "date": "2003" } ], "uniprot_ac": "A5X5Y0", "site_annotation": [ { "end_pos": 69, "annotation": "n_glycosylation_sequon", "start_pos": 67 }, { "end_pos": 177, "annotation": "n_glycosylation_sequon", "start_pos": 175 }, { "end_pos": 61, "annotation": "n_glycosylation_sequon", "start_pos": 59 }, { "end_pos": 33, "annotation": "n_glycosylation_sequon", "start_pos": 31 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0#A5X5Y0-6", "isoform_ac": "A5X5Y0-6", "locus": { "end_pos": 184100373, "strand": "-", "start_pos": 184106690, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000440596", "id": "ENST00000440596", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000406050", "id": "ENSP00000406050", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5X5Y0-6|5HT3E_HUMAN Isoform 6 of 5-hydroxytryptamine receptor 3E OS=Homo sapiens OX=9606 GN=HTR3E PE=1 SV=1 CANONICAL=A5X5Y0-1", "length": 482, "sequence": "MLAFILSRATPRPALGPLSYREHRVALLHLTHSMSTTGRGVTFTINCSGFGQHGADPTALNSVFNRKPFRPVTNISVPTQVNISFAMSAILDVVWDNPFISWNPEECEGITKMSMAAKNLWLPDIFIIELCVSRAGQREVPSPGSHRDHSLPLGPLMDVDKTPKGLTAYVSNEGRIRYKKPMKVDSICNLDIFYFPFDQQNCTLTFSSFLYTVDSMLLDMEKEVWEITDASRNILQTHGEWELLGLSKATAKLSRGGNLYDQIVFYVAIRRRPSLYVINLLVPSGFLVAIDALSFYLPVKSGNRVPFKITLLLGYNVFLLMMSDLLPTSGTPLIGVYFALCLSLMVGSLLETIFITHLLHVATTQPPPLPRWLHSLLLHCNSPGRCCPTAPQKENKGPGLTPTHLPGVKEPEVSAGQMPGPAEAELTGGSEWTRAQREHEAQKQHSVELWLQFSHAMDAMLFRLYLLFMASSIITVICLWNT" } }, { "url": "https://www.uniprot.org/uniprot/A5X5Y0#C9J420-1", "isoform_ac": "C9J420-1", "locus": { "end_pos": 184100631, "strand": "-", "start_pos": 184105394, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000431041", "id": "ENST00000431041", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391254", "id": "ENSP00000391254", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9J420-1|5HT3E_HUMAN Computationally mapped isoform of 5-hydroxytryptamine receptor 3E OS=Homo sapiens OX=9606 GN=HTR3E PE=1 SV=1 CANONICAL=A5X5Y0-1", "length": 158, "sequence": "MSAILDVNEQLHLLSSFLWLEMVWDNPFISWNPEECEGITKMSMAAKNLWLPDIFIIELMDVDKTPKGLTAYVSNEGRIRYKKPMKVDSICNLDIFYFPFDQQNCTLTFSSFLYTVDSMLLDMEKEVWEITDASRNILQTHGEWELLGLSKATAKLSR" } }, { "url": "https://www.uniprot.org/uniprot/A5X5Y0#A5X5Y0-4", "isoform_ac": "A5X5Y0-4", "locus": { "end_pos": 184100373, "strand": "-", "start_pos": 184106690, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000436361", "id": "ENST00000436361", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000395833", "id": "ENSP00000395833", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5X5Y0-4|5HT3E_HUMAN Isoform 4 of 5-hydroxytryptamine receptor 3E OS=Homo sapiens OX=9606 GN=HTR3E PE=1 SV=1 CANONICAL=A5X5Y0-1", "length": 456, "sequence": "MLAFILSRATPRPALGPLSYREHRVALLHLTHSMSTTGRGVTFTINCSGFGQHGADPTALNSVFNRKPFRPVTNISVPTQVNISFAMSAILDVVWDNPFISWNPEECEGITKMSMAAKNLWLPDIFIIELMDVDKTPKGLTAYVSNEGRIRYKKPMKVDSICNLDIFYFPFDQQNCTLTFSSFLYTVDSMLLDMEKEVWEITDASRNILQTHGEWELLGLSKATAKLSRGGNLYDQIVFYVAIRRRPSLYVINLLVPSGFLVAIDALSFYLPVKSGNRVPFKITLLLGYNVFLLMMSDLLPTSGTPLIGVYFALCLSLMVGSLLETIFITHLLHVATTQPPPLPRWLHSLLLHCNSPGRCCPTAPQKENKGPGLTPTHLPGVKEPEVSAGQMPGPAEAELTGGSEWTRAQREHEAQKQHSVELWLQFSHAMDAMLFRLYLLFMASSIITVICLWNT" } }, { "url": "https://www.uniprot.org/uniprot/A5X5Y0#A5X5Y0-1", "isoform_ac": "A5X5Y0-1", "locus": { "end_pos": 184097530, "strand": "-", "start_pos": 184106690, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000415389", "id": "ENST00000415389", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000401444", "id": "ENSP00000401444", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5X5Y0-1|5HT3E_HUMAN Isoform 1 of 5-hydroxytryptamine receptor 3E OS=Homo sapiens OX=9606 GN=HTR3E PE=1 SV=1 CANONICAL=A5X5Y0-1", "length": 456, "sequence": "MEGSWFHRKRFSFYLLLGFLLQGRGVTFTINCSGFGQHGADPTALNSVFNRKPFRPVTNISVPTQVNISFAMSAILDVNEQLHLLSSFLWLEMVWDNPFISWNPEECEGITKMSMAAKNLWLPDIFIIELMDVDKTPKGLTAYVSNEGRIRYKKPMKVDSICNLDIFYFPFDQQNCTLTFSSFLYTVDSMLLDMEKEVWEITDASRNILQTHGEWELLGLSKATAKLSRGGNLYDQIVFYVAIRRRPSLYVINLLVPSGFLVAIDALSFYLPVKSGNRVPFKITLLLGYNVFLLMMSDLLPTSGTPLIGVYFALCLSLMVGSLLETIFITHLLHVATTQPPPLPRWLHSLLLHCNSPGRCCPTAPQKENKGPGLTPTHLPGVKEPEVSAGQMPGPAEAELTGGSEWTRAQREHEAQKQHSVELWLQFSHAMDAMLFRLYLLFMASSIITVICLWNT" } }, { "url": "https://www.uniprot.org/uniprot/A5X5Y0#A5X5Y0-2", "isoform_ac": "A5X5Y0-2", "locus": { "end_pos": 184097530, "strand": "-", "start_pos": 184106690, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000425359", "id": "ENST00000425359", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000401900", "id": "ENSP00000401900", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5X5Y0-2|5HT3E_HUMAN Isoform 2 of 5-hydroxytryptamine receptor 3E OS=Homo sapiens OX=9606 GN=HTR3E PE=1 SV=1 CANONICAL=A5X5Y0-1", "length": 441, "sequence": "MEGSWFHRKRFSFYLLLGFLLQGRGVTFTINCSGFGQHGADPTALNSVFNRKPFRPVTNISVPTQVNISFAMSAILDVVWDNPFISWNPEECEGITKMSMAAKNLWLPDIFIIELMDVDKTPKGLTAYVSNEGRIRYKKPMKVDSICNLDIFYFPFDQQNCTLTFSSFLYTVDSMLLDMEKEVWEITDASRNILQTHGEWELLGLSKATAKLSRGGNLYDQIVFYVAIRRRPSLYVINLLVPSGFLVAIDALSFYLPVKSGNRVPFKITLLLGYNVFLLMMSDLLPTSGTPLIGVYFALCLSLMVGSLLETIFITHLLHVATTQPPPLPRWLHSLLLHCNSPGRCCPTAPQKENKGPGLTPTHLPGVKEPEVSAGQMPGPAEAELTGGSEWTRAQREHEAQKQHSVELWLQFSHAMDAMLFRLYLLFMASSIITVICLWNT" } }, { "url": "https://www.uniprot.org/uniprot/A5X5Y0#A5X5Y0-3", "isoform_ac": "A5X5Y0-3", "locus": { "end_pos": 184100373, "strand": "-", "start_pos": 184106690, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000335304", "id": "ENST00000335304", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000335511", "id": "ENSP00000335511", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5X5Y0-3|5HT3E_HUMAN Isoform 3 of 5-hydroxytryptamine receptor 3E OS=Homo sapiens OX=9606 GN=HTR3E PE=1 SV=1 CANONICAL=A5X5Y0-1", "length": 471, "sequence": "MLAFILSRATPRPALGPLSYREHRVALLHLTHSMSTTGRGVTFTINCSGFGQHGADPTALNSVFNRKPFRPVTNISVPTQVNISFAMSAILDVNEQLHLLSSFLWLEMVWDNPFISWNPEECEGITKMSMAAKNLWLPDIFIIELMDVDKTPKGLTAYVSNEGRIRYKKPMKVDSICNLDIFYFPFDQQNCTLTFSSFLYTVDSMLLDMEKEVWEITDASRNILQTHGEWELLGLSKATAKLSRGGNLYDQIVFYVAIRRRPSLYVINLLVPSGFLVAIDALSFYLPVKSGNRVPFKITLLLGYNVFLLMMSDLLPTSGTPLIGVYFALCLSLMVGSLLETIFITHLLHVATTQPPPLPRWLHSLLLHCNSPGRCCPTAPQKENKGPGLTPTHLPGVKEPEVSAGQMPGPAEAELTGGSEWTRAQREHEAQKQHSVELWLQFSHAMDAMLFRLYLLFMASSIITVICLWNT" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112314", "resource": "Reactome", "id": "R-HSA-112314", "name": "Neurotransmitter receptors and postsynaptic signal transmission" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:285242", "resource": "KEGG Pathway", "id": "hsa:285242", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "annotation": "Data show that 5-HT3C, 5-HT3D, and 5-HT3E subunits are coexpressed with 5-HT3A in cell bodies of myenteric neurons, and that 5-HT3A and 5-HT3D were expressed in submucosal plexus of the human large intestine.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "annotation": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "annotation": "Data show that 5-HT3 receptors locat in the nucleus tractus silitarius contribute to stress-induced suppression of the baroreflex. Review article", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "annotation": "MicroRNA-510 target site of the 3'UTR of HTR3A and HTR3E are associated with the irritable bowel syndrome with diarrhea. GeneRIF: The binding site for miR-510 is solely located in the 3' UTR of the HTR3E gene. No predicted binding site for miR-510 exists in the 3' UTR of HTR3A.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "annotation": "The HTR3E remained significant after correction for the number of variants investigated.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "id": "NP_001243542.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A5X5Y0#function", "annotation": "This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0#function", "id": "A5X5Y0", "database": "UniProtKB" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "P", "start_pos": 357, "alt_nt": "T", "chr_id": "3", "ref_nt": "C", "chr_pos": "183824060", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } }, { "synonyms": [ { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca body - stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "ca greater curvature of stomach", "description": "" }, { "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": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of lesser curve of stomach", "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/A5X5Y0", "id": "A5X5Y0", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "L", "subjects_tested": "456", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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(2.0%).", "end_pos": 160, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 134, "alt_nt": "A", "chr_id": "3", "ref_nt": "G", "chr_pos": "183822585", "disease": [ { "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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5X5Y0", "id": "A5X5Y0", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "N", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DKT->NKT).", "end_pos": 134, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 149, "alt_nt": "A", "chr_id": "3", "ref_nt": "G", "chr_pos": "183822631", "disease": [ { "synonyms": [ { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - 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In dbSNP: rs954199990.", "end_pos": 149, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243542.1", "ac": "NP_001243542.1", "name": "5-hydroxytryptamine receptor 3E isoform d precursor", "summary": "This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022850", "pmid": "17392525", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0", "id": "A5X5Y0", "database": "UniProtKB" } ], "name": "serotonin-gated cation-selective channel activity", "id": "GO:0022850" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0", "id": "A5X5Y0", "database": "UniProtKB" } ], "name": "transmembrane signaling receptor activity", "id": "GO:0004888" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005887", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5X5Y0", "id": "A5X5Y0", "database": "UniProtKB" } ], "name": "integral component of plasma membrane", "id": "GO:0005887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "pmid": 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