{ "uniprot_canonical_ac": "A2A2V5-1", "ptm_annotation": [], "sequence": { "header": "sp|A2A2V5-1|SRTM1_HUMAN Isoform 1 of Serine-rich and transmembrane domain-containing protein 1 OS=Homo sapiens OX=9606 GN=SERTM1 PE=4 SV=1 CANONICAL=A2A2V5-1", "length": 107, "sequence": "MSEPDTSSGFSGSVENGTFLELFPTSLSTSVDPSSGHLSNVYIYVSIFLSLLAFLLLLLIIALQRLKNIISSSSSYPEYPSDAGSSFTNLEVCSISSQRSTFSNLSS" }, "uniprot_id": "SRTM1_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2V5", "id": "A2A2V5", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [], "uniprot_ac": "A2A2V5", "site_annotation": [ { "end_pos": 106, "annotation": "n_glycosylation_sequon", "start_pos": 104 }, { "end_pos": 18, "annotation": "n_glycosylation_sequon", "start_pos": 16 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2A2V5#A2A2V5-1", "isoform_ac": "A2A2V5-1", "locus": { "end_pos": 36695079, "strand": "-", "start_pos": 36695399, "chromosome": "13", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000315190", "id": "ENST00000315190", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000325776", "id": "ENSP00000325776", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A2V5-1|SRTM1_HUMAN Isoform 1 of Serine-rich and transmembrane domain-containing protein 1 OS=Homo sapiens OX=9606 GN=SERTM1 PE=4 SV=1 CANONICAL=A2A2V5-1", "length": 107, "sequence": "MSEPDTSSGFSGSVENGTFLELFPTSLSTSVDPSSGHLSNVYIYVSIFLSLLAFLLLLLIIALQRLKNIISSSSSYPEYPSDAGSSFTNLEVCSISSQRSTFSNLSS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:400120", "resource": "KEGG Pathway", "id": "hsa:400120", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "D3ZR22-1", "protein_name": "Serine-rich and transmembrane domain-containing 1", "sequence": { "length": 107, "sequence": "MSEADPSSGFAGSVENGTFLELFPTSLSTSVDSSSGHLSNVYIYVSIFLSLLAFLLLLLIIALQRLKNIISSSSSYPEYPSDAGSSFTNLEVCSISSQRSTFSNLSS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/45594", "id": "45594", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2A2V5/", "id": "A2A2V5", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8CD78-1", "protein_name": "Serine-rich and transmembrane domain-containing protein 1", "sequence": { "length": 107, "sequence": "MSEADSSSGFAGSVENGTFLELFPTSLSTSVDSSSGHLSNVYIYVSIFLSLLAFLLLLLIIALQRLKNIISSSSSYPEYPSDAGSSFTNLEVCSISSQRSTFSNLSS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/45594", "id": "45594", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Y", "start_pos": 42, "alt_nt": "A", "chr_id": "13", "ref_nt": "C", "chr_pos": "37269341", "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/A2A2V5", "id": "A2A2V5", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "*", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } }, { "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/A2A2V5", "id": "A2A2V5", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "F", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 74, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_982276.2", "ac": "NP_982276.2", "name": "serine-rich and transmembrane domain-containing protein 1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2V5", "id": "A2A2V5", "database": "UniProtKB" } ], "name": 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"http://www.orthodb.org/?query=1631633at2759", "id": "1631633at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR35660", "id": "PTHR35660", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF15872", "id": "PF15872", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2A2V5", "id": "A2A2V5", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2A2V5", "id": "PR_A2A2V5", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_982276.2", "id": "NP_982276.2", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease 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"tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2V5", "id": "A2A2V5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": 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tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2A2V5", "id": "A2A2V5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": 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