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"DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170074", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170074" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170074", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170074" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170074", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170074" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "61.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170074", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170074" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "70.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170074", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170074" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170074", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170074" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "66.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170074", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170074" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170074", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170074" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "64.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170074", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170074" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9UHL3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UHL3" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a 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"name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q9UHL3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UHL3" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9UHL3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UHL3" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UHL3" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q9UHL3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UHL3" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"https://www.uniprot.org/uniprot/D6RIF1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RIF1-1", "url": "https://www.uniprot.org/uniprot/D6RIF1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UHL3", "url": "https://www.uniprot.org/uniprot/Q9UHL3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UHL3-1", "url": "https://www.uniprot.org/uniprot/Q9UHL3-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQCERDEGSLGKPLCPPEILSETLPGSVKKRVCFPSEDHLEEFIAEHLPEASNQSLLTVAHADAGTQTNGDLEDLEEHGPGQTVSEEATEVHTMEGDPDTLAEFLIRDVLQELSSYNGEEEDPEEVKTSLGVPQRGDLEDLEEHVPGQTVSEEATGVHMMQVDPATLAKSDLEDLEEHVPEQTVSEEATGVHMMQVDPATLAKQLEDSTITGSHQQMSASPSSAPAEEATEKTKVEEEVKTRKPKKKTRKPSKKSRWNVLKCWDIFNIF", "length": 310, "header": "sp|Q9UHL3-1|F153A_HUMAN Isoform 1 of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=2 CANONICAL=Q9UHL3-1" }, "isoforms": [ { "isoform_ac": "A0A087WYN1-1", "url": "", "sequence": { "sequence": "MGCVYSCCLEVCCGEDEIVYPRMPGESTVCHREREKPITYHWYHWHPGHIYPRIASMEDYDEDLVQEASSEDVLGVHMVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQCERDEGSLGKPLCPPEILSETLPGSVKKRVCFPSEDHLEEFIAEHLPEASNQSLLTVAHADAGTQTNGDLEDLEEHGPGQTVSEEATEVHTMEGDPDTLAEFLIRDVLQELSSYNGEEEDPEEVKTSLGVPQRGDLEDLEEHVPGQTVSEEATGVHMMQVDPATLAKSDLEDLEEHVPEQTVSEEATGVHMMQVDPATLAKQLEDSTITGSHQQMSASPSSAPAEEATEKTKVEEEVKTRKPKKKTRKPSKKSRWNVLKCWDIFNIF", "length": 387, "header": "tr|A0A087WYN1-1|F153A_HUMAN Computationally mapped isoform of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177753206, "end_pos": 177724116, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000614127.5", "url": "https://www.ensembl.org/id/ENST00000614127.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000481950.1", "url": "https://www.ensembl.org/id/ENSP00000481950.1" } ] } }, { "isoform_ac": "A0A8V8TKN8-1", "url": "", "sequence": { "sequence": "MGCVYSCCLEVCCGEDEIVYPRMPGESTVCHREREKPITYHWYHWHPGHIYPRIASMEDYDEDLVQEASSEDVLGVHMVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQCERDEGSLGKPLCPPEILSETLPGSVKKRVCFPSEDHLEEFIAEHLPEASNQSLLTVAHADAGTQTNGDLEDLEEHGPGQTVSEEATEVHTMEGDPDTLAEFLIRDVLQELSSYNGEEEDPEETSLGVPQRGDLEDLEEHVPGQTVSEEATGVHMMQVDPATLAKSDLEDLEEHVPEQTVSEEATGVHMMQVDPATLAKQLEDSTITGSHQQMSASPSSAPAEEATEKTKVEEEVKTRKPKKKTRKPSKKSRWNVLKCWDIFNIF", "length": 385, "header": "tr|A0A8V8TKN8-1|F153A_HUMAN Computationally mapped isoform of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177753206, "end_pos": 177724116, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697104.1", "url": "https://www.ensembl.org/id/ENST00000697104.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513110.1", "url": "https://www.ensembl.org/id/ENSP00000513110.1" } ] } }, { "isoform_ac": "A0A8V8TKQ6-1", "url": "", "sequence": { "sequence": "MVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQCERDEGSLGKPLCPPEILSETLPGSVKKRVCFPSEVTLTLFLLDHLEEFIAEHLPEASNQSLLTVAHADAGTQTNGDLEDLEEHGPGQTVSEEATEVHTMEGDPDTLAEFLIRDVLQELSSYNGEEEDPEEVKTSLGVPQRGDLEDLEEHVPGQTVSEEATGVHMMQVDPATLAKSDLEDLEEHVPEQTVSEEATGVHMMQVDPATLAKQLEDSTITGSHQQMSASPSSAPAEEATEKTKVEEEVKTRKPKKKTRKPSKKSRWNVLKCWDIFNIF", "length": 318, "header": "tr|A0A8V8TKQ6-1|A0A8V8TKQ6_HUMAN Computationally mapped isoform of Family with sequence similarity 153 member A OS=Homo sapiens OX=9606 GN=FAM153A PE=4 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177748643, "end_pos": 177724116, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697106.1", "url": "https://www.ensembl.org/id/ENST00000697106.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513112.1", "url": "https://www.ensembl.org/id/ENSP00000513112.1" } ] } }, { "isoform_ac": "A0A8V8TL23-1", "url": "", "sequence": { "sequence": "MVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQCGKWKFPRPQNA", "length": 55, "header": "tr|A0A8V8TL23-1|A0A8V8TL23_HUMAN Computationally mapped isoform of Family with sequence similarity 153 member A OS=Homo sapiens OX=9606 GN=FAM153A PE=4 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177748643, "end_pos": 177741585, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697110.1", "url": "https://www.ensembl.org/id/ENST00000697110.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513115.1", "url": "https://www.ensembl.org/id/ENSP00000513115.1" } ] } }, { "isoform_ac": "A0A8V8TLZ1-1", "url": "", "sequence": { "sequence": "MVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQRGDLEDLEEHVPGQTVSEEATGVHMMQVDPATLAKQLEDSTITGSHQQMSASPSSAPAEEATEKTKVEEEVKTRKPKKKTRKPSKKSRWNVLKCWDIFNIF", "length": 144, "header": "tr|A0A8V8TLZ1-1|A0A8V8TLZ1_HUMAN Computationally mapped isoform of Family with sequence similarity 153 member A OS=Homo sapiens OX=9606 GN=FAM153A PE=4 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177748643, "end_pos": 177724116, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697108.1", "url": "https://www.ensembl.org/id/ENST00000697108.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513113.1", "url": "https://www.ensembl.org/id/ENSP00000513113.1" } ] } }, { "isoform_ac": "A0A8V8TM68-1", "url": "", "sequence": { "sequence": "MGCVYSCCLEDYDEDLVQEASSEDVLGVHMVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQCERDEGSLGKPLCPPEILSETLPGSVKKRVCFPSEDHLEEFIAEHLPEASNQSLLTVAHADAGTQTNGDLEDLEEHGPGQTVSEEATEVHTMEGDPDTLAEFLIRDVLQELSSYNGEEEDPEEVKTSLGVPQRGDLEDLEEHVPGQTVSEEATGVHMMQVDPATLAKSDLEDLEEHVPEQTVSEEATGVHMMQVDPATLAKQLEDSTITGSHQQMSASPSSAPAEEATEKTKVEEEVKTRKPKKKTRKPSKKSRWNVLKCWDIFNIF", "length": 339, "header": "tr|A0A8V8TM68-1|F153A_HUMAN Computationally mapped isoform of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177753206, "end_pos": 177724116, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697103.1", "url": "https://www.ensembl.org/id/ENST00000697103.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513109.1", "url": "https://www.ensembl.org/id/ENSP00000513109.1" } ] } }, { "isoform_ac": "A8MWQ6-1", "url": "", "sequence": { "sequence": "MVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQRGDLEDLEEHVPGQTVSEEATGVHMMQVDPATLAKQLEDSTITGSHQQMSASPSSAPAEEATEKTKVEEEV", "length": 114, "header": "tr|A8MWQ6-1|F153A_HUMAN Computationally mapped isoform of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=3 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177748643, "end_pos": 177724294, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393518.7", "url": "https://www.ensembl.org/id/ENST00000393518.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377153.4", "url": "https://www.ensembl.org/id/ENSP00000377153.4" } ] } }, { "isoform_ac": "D6RCD4-1", "url": "", "sequence": { "sequence": "MGCVYSCCLEDYDEDLVQEASSEDVLGVHMVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQCERDEGSLGKPLCPPEILSETLPGSVKKRVCFPSEDHLEEFIAEHLP", "length": 119, "header": "tr|D6RCD4-1|F153A_HUMAN Computationally mapped isoform of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177753206, "end_pos": 177739636, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000504518.1", "url": "https://www.ensembl.org/id/ENST00000504518.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000423766.1", "url": "https://www.ensembl.org/id/ENSP00000423766.1" } ] } }, { "isoform_ac": "D6REE0-1", "url": "", "sequence": { "sequence": "MVDKDTERDSTYSGITPMLRKNSS", "length": 24, "header": "tr|D6REE0-1|D6REE0_HUMAN Computationally mapped isoform of Family with sequence similarity 153 member A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177748643, "end_pos": 177747725, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503567.5", "url": "https://www.ensembl.org/id/ENST00000503567.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425021.1", "url": "https://www.ensembl.org/id/ENSP00000425021.1" } ] } }, { "isoform_ac": "D6RF32-1", "url": "", "sequence": { "sequence": "MVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQRGDLEDLEEHVPGQTVSEEATGVHMMQVDPATLAKKLEDSTITGSHQQMSASPSSAPAEEATEKTKVEEEVKTRKPKKKTRKPSKKSRWNVLKCWDIFNIF", "length": 144, "header": "tr|D6RF32-1|F153A_HUMAN Computationally mapped isoform of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177748643, "end_pos": 177724116, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513554.5", "url": "https://www.ensembl.org/id/ENST00000513554.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426689.1", "url": "https://www.ensembl.org/id/ENSP00000426689.1" } ] } }, { "isoform_ac": "D6RF64-1", "url": "", "sequence": { "sequence": "MGCVYSCCLEVCCGEDEIVYPRMPGESTVCHREREKPITYH", "length": 41, "header": "tr|D6RF64-1|F153A_HUMAN Computationally mapped isoform of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177753206, "end_pos": 177750959, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000503845.6", "url": "https://www.ensembl.org/id/ENST00000503845.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000424904.1", "url": "https://www.ensembl.org/id/ENSP00000424904.1" } ] } }, { "isoform_ac": "D6RIF1-1", "url": "", "sequence": { "sequence": "MGCVYSCCLEDYDEDLVQEASSEDVLGVHMCFVFL", "length": 35, "header": "tr|D6RIF1-1|F153A_HUMAN Computationally mapped isoform of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=1 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177753206, "end_pos": 177747803, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000515787.5", "url": "https://www.ensembl.org/id/ENST00000515787.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425931.1", "url": "https://www.ensembl.org/id/ENSP00000425931.1" } ] } }, { "isoform_ac": "Q9UHL3-1", "url": "", "sequence": { "sequence": "MVDKDTERDIEMKRQLRRLRELHLYSTWKKYQEAMKTSLGVPQCERDEGSLGKPLCPPEILSETLPGSVKKRVCFPSEDHLEEFIAEHLPEASNQSLLTVAHADAGTQTNGDLEDLEEHGPGQTVSEEATEVHTMEGDPDTLAEFLIRDVLQELSSYNGEEEDPEEVKTSLGVPQRGDLEDLEEHVPGQTVSEEATGVHMMQVDPATLAKSDLEDLEEHVPEQTVSEEATGVHMMQVDPATLAKQLEDSTITGSHQQMSASPSSAPAEEATEKTKVEEEVKTRKPKKKTRKPSKKSRWNVLKCWDIFNIF", "length": 310, "header": "sp|Q9UHL3-1|F153A_HUMAN Isoform 1 of Protein FAM153A OS=Homo sapiens OX=9606 GN=FAM153A PE=1 SV=2 CANONICAL=Q9UHL3-1" }, "locus": { "chromosome": "5", "start_pos": 177748643, "end_pos": 177724116, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697109.1", "url": "https://www.ensembl.org/id/ENST00000697109.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513114.1", "url": "https://www.ensembl.org/id/ENSP00000513114.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Antigens recognized by autologous antibody in patients with renal-cell carcinoma.", "journal": "Int. J. Cancer", "date": "1999", "authors": "Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH, Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT, Old LJ", "evidence": [ { "database": "UniProtKB", "id": "Q9UHL3", "url": "https://www.uniprot.org/uniprot/Q9UHL3" } ], "reference": [ { "type": "PubMed", "id": "10508479", "url": "https://glygen.org/publication/PubMed/10508479" } ] } ], "pathway": [ { "id": "hsa:285596", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:285596", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": {}, "pro_annotation": [], "site_annotation": [ { "start_pos": 94, "end_pos": 96, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }