{ "uniprot_canonical_ac": "A3QJZ6-1", "uniprot_ac": "A3QJZ6", "uniprot_id": "PRA22_HUMAN", "mass": { "chemical_mass": 55489.0, "monoisotopic_mass": 55489.0 }, "refseq": { "ac": "NP_001094101", "name": "PRAME family member 22", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094101" }, "gene_names": [ { "name": "PRAMEF22", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A3QJZ6", "id": "A3QJZ6" }, { "name": "PRAMEF22", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094101", "id": "NP_001094101" }, { "name": "PRAMEF3L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094101", "id": "NP_001094101" } ], "protein_names": [ { "name": "PRAME family member 22", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A3QJZ6#names_and_taxonomy", "id": "A3QJZ6" }, { "name": "PRAME family member 22", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094101", "id": "NP_001094101" } ], "function": [], "disease": [], "snv": [ { "evidence": [ { "id": "A3QJZ6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3QJZ6" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 119, "end_pos": 119, "subjects_tested": "94", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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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. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A3QJZ6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3QJZ6" } ], "glycoeffect": [], "start_pos": 204, "end_pos": 204, "subjects_tested": "50", "subjects_positive": "2", "frequency": "4.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { 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neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": 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