{ "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=1 SV=1 CANONICAL=A4QMS7-1", "length": 147, "sequence": "MEDDEEETTASTLRGKPRPPPVSAQSAFSYIPPRRLDPKEHSYYYRPARTGIISLYDCIFKRRLDYDQKLHRDDREHAKSLGLHVNEEEQERPVGVLTSSVYGKRINQPIEPLNRDFGRANHVQADFYRKNDIPSLKEPGFGHIAPS" }, "uniprot_id": "CE049_HUMAN", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QMS7", "id": "A4QMS7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23169490", "type": "PubMed", "id": "23169490" } ], "title": "Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.", "journal": "European journal of human genetics : EJHG", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001083053.1", "id": "NP_001083053.1", "database": "RefSeq" } ], "authors": "Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS", "date": "2013" } ], "uniprot_ac": "A4QMS7", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A4QMS7", "type": "synonym", "resource": "RefSeq", "name": "C5orf49" }, { "url": "https://www.uniprot.org/uniprot/A4QMS7", "type": "recommended", "resource": "UniProtKB", "name": "C5orf49" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4QMS7#A4QMS7-1", "isoform_ac": "A4QMS7-1", "locus": { "end_pos": 7831853, "strand": "+", "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=1 SV=1 CANONICAL=A4QMS7-1", "length": 147, "sequence": "MEDDEEETTASTLRGKPRPPPVSAQSAFSYIPPRRLDPKEHSYYYRPARTGIISLYDCIFKRRLDYDQKLHRDDREHAKSLGLHVNEEEQERPVGVLTSSVYGKRINQPIEPLNRDFGRANHVQADFYRKNDIPSLKEPGFGHIAPS" } }, { "url": "https://www.uniprot.org/uniprot/A4QMS7#D6RHK3-1", "isoform_ac": "D6RHK3-1", "locus": { "end_pos": 7831853, "strand": "+", "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=1 SV=1 CANONICAL=A4QMS7-1", "length": 145, "sequence": "MEDDEEETTASTLRGKPRPPPVSAQSAFSYIPPRRLDPKEHSYYYRPARTGIISLYDCIFKRRLDYDQKLHRDDREHAKSLGLHVNEEERPVGVLTSSVYGKRINQPIEPLNRDFGRANHVQADFYRKNDIPSLKEPGFGHIAPS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:134121", "resource": "KEGG Pathway", "id": "hsa:134121", "name": "" } ], "reaction_participants": [], "function": [], "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" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "RGD1308544", "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" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "name": "head and neck cancer", "id": "DOID:11934" } }, { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4QMS7", "id": "A4QMS7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.6", "sequence_mut": "C", "subjects_tested": "162", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 105, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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