{ "uniprot_canonical_ac": "A4D263-1", "ptm_annotation": [], "sequence": { "header": "sp|A4D263-1|SPT48_HUMAN Isoform 1 of Spermatogenesis-associated protein 48 OS=Homo sapiens OX=9606 GN=SPATA48 PE=4 SV=2 CANONICAL=A4D263-1", "length": 438, "sequence": "MDVEIQDTPGKISISKRSILSGTVENIDYPHYCDLLRKMNMPFVKGLENRHNYGRFEKKCNPAFLKFHPYPPSVLPDYHLHDPYPPPYGPHYPLFPLRDDVTLGDSCSGFMSPGGDADLNPGIGRTIPTLVDFSDVKPQHRVPRPDTGFQTTIKRQKILSEELQQNRRWNSREVPDISIRARLGGWTSPLKVTPLQPHHEGRSLSHIFTFDEEATCTDEGEPLVQTNKKCNAKDSFYKSSTQKAYEDVPWDKMLPPKLVPEETTLEKTADPISQCFTLKRYKGVPAITQMVGELWDRFQTRSFLAPVKPINFVSSSSRSKYIPLYTGHVQSTNADDVDNPLGDIASLAKQRYSKPLYTNTSRAANIPGYTGKVHFTATHPANSNIPSTTPSPDSELHRVFQKEMAVDLFRHQAPLSRLVTTVRPYNPFNKKDKETIDY" }, "uniprot_id": "SPT48_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D263", "id": "A4D263", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [], "uniprot_ac": "A4D263", "site_annotation": [ { "end_pos": 361, "annotation": "n_glycosylation_sequon", "start_pos": 359 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D263#A4D263-1", "isoform_ac": "A4D263-1", "locus": { "end_pos": 50096086, "strand": "-", "start_pos": 50159166, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000297001", "id": "ENST00000297001", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000297001", "id": "ENSP00000297001", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D263-1|SPT48_HUMAN Isoform 1 of Spermatogenesis-associated protein 48 OS=Homo sapiens OX=9606 GN=SPATA48 PE=4 SV=2 CANONICAL=A4D263-1", "length": 438, "sequence": "MDVEIQDTPGKISISKRSILSGTVENIDYPHYCDLLRKMNMPFVKGLENRHNYGRFEKKCNPAFLKFHPYPPSVLPDYHLHDPYPPPYGPHYPLFPLRDDVTLGDSCSGFMSPGGDADLNPGIGRTIPTLVDFSDVKPQHRVPRPDTGFQTTIKRQKILSEELQQNRRWNSREVPDISIRARLGGWTSPLKVTPLQPHHEGRSLSHIFTFDEEATCTDEGEPLVQTNKKCNAKDSFYKSSTQKAYEDVPWDKMLPPKLVPEETTLEKTADPISQCFTLKRYKGVPAITQMVGELWDRFQTRSFLAPVKPINFVSSSSRSKYIPLYTGHVQSTNADDVDNPLGDIASLAKQRYSKPLYTNTSRAANIPGYTGKVHFTATHPANSNIPSTTPSPDSELHRVFQKEMAVDLFRHQAPLSRLVTTVRPYNPFNKKDKETIDY" } } ], "pathway": [], "function": [], "orthologs": [ { "uniprot_canonical_ac": "D4A9H9-1", "protein_name": "Spermatogenesis-associated 48", "sequence": { "length": 445, "sequence": "MRQSMDMEVKHIPGKISIPKRFIFSEGKAIEHPDYPHYHDLLQKMNMPFVKGFEDRHNCGRFEKKFNPTFLKFHPYPPSVLPDYHVHYPYPPPFGKAYPLAPLRDDVPLGDPCSGFMSPGGDADLKPGVGRAIPNLVSFHDVKPQNRVPRPDKGFHTTIKRQTILTEELKQDRRWNSRKVSDIFIRAKLGGWTSPRKVIPVPVHEHEVGTLSRLYTFEEEATSTDDSEPLVQLDKKTNTKDSFYKSSTQKAYENVPWDKILSPKLDPEETTLEKAADHISQCFTLKRYERLPAITQMVGGLWDRFQTRLFSAPVKPINFVSPSTRSKYIPLYTGHVQSTNADDVDNPYGDIKSVASPRHSKLLYTDTSRSANIPGYTGKVHFTATHPTNSNIPPTMPLSDSEMNRLLLQEMRVDRFRHQGPLSQMVTTVKPYNPFNRKEKEALEY" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4D263/", "id": "A4D263", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "start_pos": 48, "alt_nt": "C", "chr_id": "7", "ref_nt": "G", "chr_pos": "50135823", "disease": [ { "synonyms": [ { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "tumor of head and neck", "description": "" } ], "recommended_name": { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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(2.3%).", "end_pos": 48, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "T", "start_pos": 23, "alt_nt": "T", "chr_id": "7", "ref_nt": "A", "chr_pos": "50135748", "disease": [ { "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/A4D263", "id": "A4D263", "database": "BioMuta" } ], "frequency": "1.4", "sequence_mut": "S", "subjects_tested": "72", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.4%).", "end_pos": 23, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "I", "start_pos": 12, "alt_nt": "C", "chr_id": "7", "ref_nt": "T", "chr_pos": "50135716", "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/A4D263", "id": "A4D263", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "T", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 12, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "T", "start_pos": 358, "alt_nt": "T", "chr_id": "7", "ref_nt": "C", "chr_pos": "50180972", "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: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." } }, { "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/A4D263", "id": "A4D263", "database": "BioMuta" } ], "frequency": "0.4", "sequence_mut": "I", "subjects_tested": "254", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 358, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 2, "alt_nt": "G", "chr_id": "7", "ref_nt": "T", "chr_pos": "50135687", "disease": [ { "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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D263", "id": "A4D263", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "E", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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