{ "uniprot_canonical_ac": "A4QMS7-1", "ptm_annotation": [], "sequence": { "header": "sp|A4QMS7-1|CE049_HUMAN Isoform 1 of Uncharacterized protein C5orf49 OS=Homo sapiens OX=9606 GN=C5orf49 PE=2 SV=1 CANONICAL=A4QMS7-1", "length": 147, "sequence": "MEDDEEETTASTLRGKPRPPPVSAQSAFSYIPPRRLDPKEHSYYYRPARTGIISLYDCIFKRRLDYDQKLHRDDREHAKSLGLHVNEEEQERPVGVLTSSVYGKRINQPIEPLNRDFGRANHVQADFYRKNDIPSLKEPGFGHIAPS" }, "uniprot_id": "CE049_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QMS7", "id": "A4QMS7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20379614", "type": [ "PubMed" ], "id": "20379614" } ], "title": "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.", "journal": "Molecular medicine (Cambridge, Mass.)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001083053.1", "id": "NP_001083053.1", "database": "RefSeq" } ], "authors": "Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR", "date": "2010" } ], "uniprot_ac": "A4QMS7", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4QMS7#D6RHK3-1", "isoform_ac": "D6RHK3-1", "locus": { "end_pos": 7831853, "start_pos": 7851021, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000509627", "id": "ENST00000509627", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000426019", "id": "ENSP00000426019", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D6RHK3-1|CE049_HUMAN Computationally mapped isoform of Uncharacterized protein C5orf49 OS=Homo sapiens OX=9606 GN=C5orf49 PE=2 SV=1 CANONICAL=A4QMS7-1", "length": 145, "sequence": "MEDDEEETTASTLRGKPRPPPVSAQSAFSYIPPRRLDPKEHSYYYRPARTGIISLYDCIFKRRLDYDQKLHRDDREHAKSLGLHVNEEERPVGVLTSSVYGKRINQPIEPLNRDFGRANHVQADFYRKNDIPSLKEPGFGHIAPS" } }, { "url": "https://www.uniprot.org/uniprot/A4QMS7#A4QMS7-1", "isoform_ac": "A4QMS7-1", "locus": { "end_pos": 7831853, "start_pos": 7851021, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000399810", "id": "ENST00000399810", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000382708", "id": "ENSP00000382708", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4QMS7-1|CE049_HUMAN Isoform 1 of Uncharacterized protein C5orf49 OS=Homo sapiens OX=9606 GN=C5orf49 PE=2 SV=1 CANONICAL=A4QMS7-1", "length": 147, "sequence": "MEDDEEETTASTLRGKPRPPPVSAQSAFSYIPPRRLDPKEHSYYYRPARTGIISLYDCIFKRRLDYDQKLHRDDREHAKSLGLHVNEEEQERPVGVLTSSVYGKRINQPIEPLNRDFGRANHVQADFYRKNDIPSLKEPGFGHIAPS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:134121", "resource": "KEGG Pathway", "id": "hsa:134121", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001083053.1", "annotation": "Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001083053.1", "id": "NP_001083053.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "M0R5R5-1", "protein_name": "LOC361192", "sequence": { "length": 180, "sequence": "MEGPAKKEQRAMDPGGVKEKEEKVEEEAGEEEGEEEEEEEITAATLRGKPRPLPISAISAFSYIPPRHQGPKEHSYFSREGQTGIVSLYDCVFKRRLDYNQKLHRDDREHAKNLGLHINEEEQERTVPVLMSSVYGKRINQPIEPLNRDYGRVNHVRTDFYRKNDIPSIKTPGFGHITPA" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4QMS7/", "id": "A4QMS7", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/28246", "id": "28246", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q9DAR0-1", "protein_name": "Uncharacterized protein C5orf49 homolog", "sequence": { "length": 182, "sequence": "MEELAKKERRAMDPGGLKKEGKVEEEAGKEEGREEEGGEEEEVTSETLRGKPRPLPISALPAFSYIPPRHQGPKERSYFSREGQTGIVSLYDCVFKRRLDYNQKLHRDDREHAKNLGLHINEEEQERTVPVLMSSVYGKRINQPIEPLNRDYGHVSHVKTDFYRKNEIPSIKGPGFGHINPA" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4QMS7/", "id": "A4QMS7", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/28246", "id": "28246", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "P", "start_pos": 21, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4QMS7", "id": "A4QMS7", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "T", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 21, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "3571", "url": 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"description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "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": "5041", "url": 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