{ "uniprot_canonical_ac": "O00482-1", "uniprot_ac": "O00482", "uniprot_id": "NR5A2_HUMAN", "mass": { "chemical_mass": 61331.0, "monoisotopic_mass": 61331.0 }, "refseq": { "ac": "NP_001263393", "name": "nuclear receptor subfamily 5 group A member 2 isoform 3", "summary": "The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" }, "gene_names": [ { "name": "NR5A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00482", "id": "O00482" }, { "name": "B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta; hB1F-2; LRH-1; LRH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393", "id": "NP_001263393" }, { "name": "B1F", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00482", "id": "O00482" }, { "name": "CPF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00482", "id": "O00482" }, { "name": "FTF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00482", "id": "O00482" }, { "name": "NR5A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393", "id": "NP_001263393" } ], "protein_names": [ { "name": "Nuclear receptor subfamily 5 group A member 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00482" }, { "name": "Alpha-1-fetoprotein transcription factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00482" }, { "name": "B1-binding factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00482" }, { "name": "CYP7A promoter-binding factor; fetoprotein-alpha 1 (AFP) transcription factor; b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus; hepatocytic transcription factor hB1F-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393", "id": "NP_001263393" }, { "name": "CYP7A promoter-binding factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00482" }, { "name": "Hepatocytic transcription factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00482" }, { "name": "LRH-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00482" }, { "name": "Liver receptor homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00482" }, { "name": "hB1F", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00482" }, { "name": "nuclear receptor subfamily 5 group A member 2 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393", "id": "NP_001263393" } ], "function": [ { "annotation": "Aberrant phosphorylation of human LRH1 at serine 510 is predictable of hepatocellular carcinoma recurrence.", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" }, { "database": "PubMed", "id": "37285077", "url": "https://glygen.org/publication/PubMed/37285077" } ] }, { "annotation": "LRH-1/NR5A2 interacts with the glucocorticoid receptor to regulate glucocorticoid resistance.", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" }, { "database": "PubMed", "id": "35801407", "url": "https://glygen.org/publication/PubMed/35801407" } ] }, { "annotation": "MicroRNA-433-3p enhances chemosensitivity of glioma to cisplatin by downregulating NR5A2.", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" }, { "database": "PubMed", "id": "36303447", "url": "https://glygen.org/publication/PubMed/36303447" } ] }, { "annotation": "Nuclear receptor 5A2 regulation of Agrp underlies olanzapine-induced hyperphagia. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" }, { "database": "PubMed", "id": "36765131", "url": "https://glygen.org/publication/PubMed/36765131" } ] }, { "annotation": "Nuclear receptor subfamily 5 group A member 2 (NR5A2): role in health and diseases. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" }, { "database": "PubMed", "id": "34643922", "url": "https://glygen.org/publication/PubMed/34643922" } ] }, { "annotation": "Nuclear receptor that acts as a key metabolic sensor by regulating the expression of genes involved in bile acid synthesis, cholesterol homeostasis and triglyceride synthesis. Together with the oxysterol receptors NR1H3/LXR-alpha and NR1H2/LXR-beta, acts as an essential transcriptional regulator of lipid metabolism. Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development. Activates the transcription of CYP2C38 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482#function" }, { "database": "PubMed", "id": "15723037", "url": "https://glygen.org/publication/PubMed/15723037" }, { "database": "PubMed", "id": "15707893", "url": "https://glygen.org/publication/PubMed/15707893" }, { "database": "PubMed", "id": "16289203", "url": "https://glygen.org/publication/PubMed/16289203" }, { "database": "PubMed", "id": "15897460", "url": "https://glygen.org/publication/PubMed/15897460" }, { "database": "PubMed", "id": "20159957", "url": "https://glygen.org/publication/PubMed/20159957" }, { "database": "UniProtKB", "id": "P45448", "url": "https://www.uniprot.org/uniprot/P45448#function" } ] }, { "annotation": "The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00482", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00482" } ], "glycoeffect": [], "start_pos": 137, "end_pos": 137, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "200045530", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R137", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "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:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00482", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00482" } ], "glycoeffect": [], "start_pos": 439, "end_pos": 439, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "200120892", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R439", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "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": "" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00482", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00482" } ], "glycoeffect": [], "start_pos": 439, "end_pos": 439, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "200120893", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R439", "disease": [ { "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": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "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": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer 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": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "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 gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve 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 tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "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, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 168, "end_pos": 168, "sequence_org": "F", "sequence_mut": "A", "comment": "Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-96 and A-172.", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" }, { "database": "PubMed", "id": "16289203", "url": "https://glygen.org/publication/PubMed/16289203" } ] }, { "start_pos": 169, "end_pos": 170, "sequence_org": "GP", "sequence_mut": "VA", "comment": "Reduced DNA binding. Loss of transactivation.", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" }, { "database": "PubMed", "id": "16289203", "url": "https://glygen.org/publication/PubMed/16289203" } ] }, { "start_pos": 172, "end_pos": 172, "sequence_org": "Y", "sequence_mut": "A", "comment": "Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-96 and A-168.", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" }, { "database": "PubMed", "id": "16289203", "url": "https://glygen.org/publication/PubMed/16289203" } ] }, { "start_pos": 270, "end_pos": 270, "sequence_org": "K", "sequence_mut": "R", "comment": "Impaired ability to act as an anti-inflammatory role during the hepatic acute phase response.", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" }, { "database": "PubMed", "id": "20159957", "url": "https://glygen.org/publication/PubMed/20159957" } ] }, { "start_pos": 342, "end_pos": 342, "sequence_org": "F", "sequence_mut": "W", "comment": "Reduced phospholipid binding. Strongly reduced transactivation; when associated with W-416.", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" }, { "database": "PubMed", "id": "15723037", "url": "https://glygen.org/publication/PubMed/15723037" } ] }, { "start_pos": 416, "end_pos": 416, "sequence_org": "I", "sequence_mut": "W", "comment": "Reduced phospholipid binding. Strongly reduced transactivation; when associated with W-342.", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" }, { "database": "PubMed", "id": "15723037", "url": "https://glygen.org/publication/PubMed/15723037" } ] }, { "start_pos": 96, "end_pos": 96, "sequence_org": "Y", "sequence_mut": "A", "comment": "Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-168 and A-172.", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" }, { "database": "PubMed", "id": "16289203", "url": "https://glygen.org/publication/PubMed/16289203" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "59.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "43.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "54.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "68.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "63.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "59.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "62.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "64.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "70.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "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 mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "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, 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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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": "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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "disease": [ { "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": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer 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": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "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 gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve 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 tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "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, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "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": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "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": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "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": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00482" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "common_name": "Human" } ], "gene": [ { "name": "NR5A2", "url": "https://www.uniprot.org/uniprot/O00482", "locus": { "chromosome": "1", "start_pos": 200177420, "end_pos": 200027614, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000116833", "url": "https://www.ensembl.org/id/ENSG00000116833" } ] } } ], "crossref": [ { "id": "ENSG00000116833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116833", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00482", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00482", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd07069", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07069", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd07167", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07167", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3544", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3544", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "NR5A2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2494", "url": "https://www.ncbi.nlm.nih.gov/gene/2494", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "7984", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7984", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00482", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00482*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000536", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000536", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001628", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001628", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001723", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001723", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013088", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013088", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016355", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016355", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035500", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035500", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2494", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2494", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604453", "url": "http://www.omim.org/entry/604453", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00482", "url": "https://www.nextprot.org/entry/NX_O00482", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DNMQVSQ", "url": "https://omabrowser.org/oma/group/DNMQVSQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2968690at2759", "url": "http://www.orthodb.org/?query=2968690at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24086", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24086", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24086:SF18", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24086:SF18", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1YOK", "url": "https://www.rcsb.org/structure/1YOK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1YUC", "url": "https://www.rcsb.org/structure/1YUC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ZDU", "url": "https://www.rcsb.org/structure/1ZDU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2A66", "url": "https://www.rcsb.org/structure/2A66", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3PLZ", "url": "https://www.rcsb.org/structure/3PLZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3TX7", "url": "https://www.rcsb.org/structure/3TX7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4DOR", "url": "https://www.rcsb.org/structure/4DOR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4DOS", "url": "https://www.rcsb.org/structure/4DOS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4IS8", "url": "https://www.rcsb.org/structure/4IS8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ONI", "url": "https://www.rcsb.org/structure/4ONI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PLD", "url": "https://www.rcsb.org/structure/4PLD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PLE", "url": "https://www.rcsb.org/structure/4PLE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4RWV", "url": "https://www.rcsb.org/structure/4RWV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5L0M", "url": "https://www.rcsb.org/structure/5L0M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5L11", "url": "https://www.rcsb.org/structure/5L11", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5SYZ", "url": "https://www.rcsb.org/structure/5SYZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5UNJ", "url": "https://www.rcsb.org/structure/5UNJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6OQX", "url": "https://www.rcsb.org/structure/6OQX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6OQY", "url": "https://www.rcsb.org/structure/6OQY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6OR1", "url": "https://www.rcsb.org/structure/6OR1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VC2", "url": "https://www.rcsb.org/structure/6VC2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VIF", "url": "https://www.rcsb.org/structure/6VIF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7JYD", "url": "https://www.rcsb.org/structure/7JYD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7JYE", "url": "https://www.rcsb.org/structure/7JYE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TT8", "url": "https://www.rcsb.org/structure/7TT8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00104", "url": "http://pfam.xfam.org/family/PF00104", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00105", "url": "http://pfam.xfam.org/family/PF00105", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00482", "url": "https://pharos.nih.gov/targets/O00482", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00482", "url": "http://purl.obolibrary.org/obo/PR_O00482", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E9PQH2", "url": "https://www.uniprot.org/uniprot/E9PQH2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQH2-1", "url": "https://www.uniprot.org/uniprot/E9PQH2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y328", "url": "https://www.uniprot.org/uniprot/H0Y328", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y328-1", "url": "https://www.uniprot.org/uniprot/H0Y328-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y7S7", "url": "https://www.uniprot.org/uniprot/H0Y7S7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y7S7-1", "url": "https://www.uniprot.org/uniprot/H0Y7S7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00482-1", "url": "https://www.uniprot.org/uniprot/O00482-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00482-2", "url": "https://www.uniprot.org/uniprot/O00482-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00482-3", "url": "https://www.uniprot.org/uniprot/O00482-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00482-4", "url": "https://www.uniprot.org/uniprot/O00482-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA", "length": 541, "header": "sp|O00482-1|NR5A2_HUMAN Isoform 1 of Nuclear receptor subfamily 5 group A member 2 OS=Homo sapiens OX=9606 GN=NR5A2 PE=1 SV=2 CANONICAL=O00482-1" }, "isoforms": [ { "isoform_ac": "E9PQH2-1", "url": "", "sequence": { "sequence": "MSSNSDTGDLQESLKHGLTPIDNTENTGTRKMREQHTTISHLFRRAEPPRCAGKESFPAAPRSSGSASGAAARARSGRRRGLRAHGGRALGGSRPRGRSWAPAARSPSWPLPK", "length": 113, "header": "tr|E9PQH2-1|E9PQH2_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 5 group A member 2 OS=Homo sapiens OX=9606 GN=NR5A2 PE=4 SV=1 CANONICAL=O00482-1" }, "locus": { "chromosome": "1", "start_pos": 200029307, "end_pos": 200027848, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474307.1", "url": "https://www.ensembl.org/id/ENST00000474307.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436776.1", "url": "https://www.ensembl.org/id/ENSP00000436776.1" } ] } }, { "isoform_ac": "H0Y328-1", "url": "", "sequence": { "sequence": "XDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKGLTLSPSLECSGTILAHGNLHLLHSSDSPASASRVAGITGVHHNTHLIFVFLVEMGFCHVGQAGLKTPDLRVICLPRPPKVLGLWA", "length": 377, "header": "tr|H0Y328-1|H0Y328_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 5 group A member 2 OS=Homo sapiens OX=9606 GN=NR5A2 PE=1 SV=1 CANONICAL=O00482-1" }, "locus": { "chromosome": "1", "start_pos": 200057762, "end_pos": 200043810, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367357.3", "url": "https://www.ensembl.org/id/ENST00000367357.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000356326.3", "url": "https://www.ensembl.org/id/ENSP00000356326.3" } ] } }, { "isoform_ac": "H0Y7S7-1", "url": "", "sequence": { "sequence": "XSLKHGLTPIDRGNCRSGCFSFAATLRQRSLLTSCAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGE", "length": 71, "header": "tr|H0Y7S7-1|NR5A2_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 5 group A member 2 OS=Homo sapiens OX=9606 GN=NR5A2 PE=1 SV=1 CANONICAL=O00482-1" }, "locus": { "chromosome": "1", "start_pos": 200039769, "end_pos": 200027883, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447034.1", "url": "https://www.ensembl.org/id/ENST00000447034.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000414888.1", "url": "https://www.ensembl.org/id/ENSP00000414888.1" } ] } }, { "isoform_ac": "O00482-1", "url": "", "sequence": { "sequence": "MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA", "length": 541, "header": "sp|O00482-1|NR5A2_HUMAN Isoform 1 of Nuclear receptor subfamily 5 group A member 2 OS=Homo sapiens OX=9606 GN=NR5A2 PE=1 SV=2 CANONICAL=O00482-1" }, "locus": { "chromosome": "1", "start_pos": 200174207, "end_pos": 200027848, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367362.8", "url": "https://www.ensembl.org/id/ENST00000367362.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000356331.3", "url": "https://www.ensembl.org/id/ENSP00000356331.3" } ] } }, { "isoform_ac": "O00482-2", "url": "", "sequence": { "sequence": "MSSNSDTGDLQESLKHGLTPIVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA", "length": 495, "header": "sp|O00482-2|NR5A2_HUMAN Isoform 2 of Nuclear receptor subfamily 5 group A member 2 OS=Homo sapiens OX=9606 GN=NR5A2 PE=1 SV=2 CANONICAL=O00482-1" }, "locus": { "chromosome": "1", "start_pos": 200174207, "end_pos": 200027848, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000236914.7", "url": "https://www.ensembl.org/id/ENST00000236914.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000236914.3", "url": "https://www.ensembl.org/id/ENSP00000236914.3" } ] } }, { "isoform_ac": "O00482-3", "url": "", "sequence": { "sequence": "MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA", "length": 369, "header": "sp|O00482-3|NR5A2_HUMAN Isoform 3 of Nuclear receptor subfamily 5 group A member 2 OS=Homo sapiens OX=9606 GN=NR5A2 PE=1 SV=2 CANONICAL=O00482-1" }, "locus": {} }, { "isoform_ac": "O00482-4", "url": "", "sequence": { "sequence": "MVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA", "length": 469, "header": "sp|O00482-4|NR5A2_HUMAN Isoform 4 of Nuclear receptor subfamily 5 group A member 2 OS=Homo sapiens OX=9606 GN=NR5A2 PE=1 SV=2 CANONICAL=O00482-1" }, "locus": { "chromosome": "1", "start_pos": 200174207, "end_pos": 200043788, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544748.5", "url": "https://www.ensembl.org/id/ENST00000544748.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439116.1", "url": "https://www.ensembl.org/id/ENSP00000439116.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 510, "end_pos": 510, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00482", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00482" }, { "database": "PubMed", "id": "16109788", "url": "https://glygen.org/publication/PubMed/16109788" } ], "site_lbl": "Ser510" } ], "glycation": [], "keywords": [], "publication": [ { "title": "CPF: an orphan nuclear receptor that regulates liver-specific expression of the human cholesterol 7alpha-hydroxylase gene.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Nitta M, Ku S, Brown C, Okamoto AY, Shan B", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "reference": [ { "type": "PubMed", "id": "10359768", "url": "https://glygen.org/publication/PubMed/10359768" } ] }, { "title": "Estrogen induction of the cyclin D1 promoter: involvement of a cAMP response-like element.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Sabbah M, Courilleau D, Mester J, Redeuilh G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "10500157", "url": "https://glygen.org/publication/PubMed/10500157" } ] }, { "title": "Transcriptional activation of transforming growth factor alpha by estradiol: requirement for both a GC-rich site and an estrogen response element half-site.", "journal": "Journal of molecular endocrinology", "date": "2000", "authors": "Vyhlidal C, Samudio I, Kladde MP, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "10828826", "url": "https://glygen.org/publication/PubMed/10828826" } ] }, { "title": "Promoter analysis and chromosomal mapping of human EBAG9 gene.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Ikeda K, Sato M, Tsutsumi O, Tsuchiya F, Tsuneizumi M, Emi M, Imoto I, Inazawa J, Muramatsu M, Inoue S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "10873660", "url": "https://glygen.org/publication/PubMed/10873660" } ] }, { "title": "Synergistic, p160 coactivator-dependent enhancement of estrogen receptor function by CARM1 and p300.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Chen D, Huang SM, Stallcup MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11010967", "url": "https://glygen.org/publication/PubMed/11010967" } ] }, { "title": "MYB oncogene amplification in hereditary BRCA1 breast cancer.", "journal": "Cancer research", "date": "2000", "authors": "Kauraniemi P, Hedenfalk I, Persson K, Duggan DJ, Tanner M, Johannsson O, Olsson H, Trent JM, Isola J, Borg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11034064", "url": "https://glygen.org/publication/PubMed/11034064" } ] }, { "title": "PDZK1 and GREB1 are estrogen-regulated genes expressed in hormone-responsive breast cancer.", "journal": "Cancer research", "date": "2000", "authors": "Ghosh MG, Thompson DA, Weigel RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11103799", "url": "https://glygen.org/publication/PubMed/11103799" } ] }, { "title": "Cofactor dynamics and sufficiency in estrogen receptor-regulated transcription.", "journal": "Cell", "date": "2000", "authors": "Shang Y, Hu X, DiRenzo J, Lazar MA, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11136970", "url": "https://glygen.org/publication/PubMed/11136970" } ] }, { "title": "Transcriptional activation of cathepsin D gene expression by 17beta-estradiol: mechanism of aryl hydrocarbon receptor-mediated inhibition.", "journal": "Molecular and cellular endocrinology", "date": "2001", "authors": "Wang F, Samudio I, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11165043", "url": "https://glygen.org/publication/PubMed/11165043" } ] }, { "title": "Transcriptional activation of genes by 17 beta-estradiol through estrogen receptor-Sp1 interactions.", "journal": "Vitamins and hormones", "date": "2001", "authors": "Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11345900", "url": "https://glygen.org/publication/PubMed/11345900" } ] }, { "title": "Estrogen regulation of cyclin D1 gene expression in ZR-75 breast cancer cells involves multiple enhancer elements.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Castro-Rivera E, Samudio I, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11410592", "url": "https://glygen.org/publication/PubMed/11410592" } ] }, { "title": "Estrogen receptor interaction with estrogen response elements.", "journal": "Nucleic acids research", "date": "2001", "authors": "Klinge CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11452016", "url": "https://glygen.org/publication/PubMed/11452016" } ] }, { "title": "Selective coactivation of estrogen-dependent transcription by CITED1 CBP/p300-binding protein.", "journal": "Genes & development", "date": "2001", "authors": "Yahata T, Shao W, Endoh H, Hur J, Coser KR, Sun H, Ueda Y, Kato S, Isselbacher KJ, Brown M, Shioda T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11581164", "url": "https://glygen.org/publication/PubMed/11581164" } ] }, { "title": "Characterization of the genomic structure and tissue-specific promoter of the human nuclear receptor NR5A2 (hB1F) gene.", "journal": "Gene", "date": "2001", "authors": "Zhang C K, Lin W, Cai Y N, Xu P L, Dong H, Li M, Kong Y Y, Fu G, Xie Y H, Huang G M, Wang Y", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "reference": [ { "type": "PubMed", "id": "11595170", "url": "https://glygen.org/publication/PubMed/11595170" } ] }, { "title": "Synergism between ERalpha transactivation function 1 (AF-1) and AF-2 mediated by steroid receptor coactivator protein-1: requirement for the AF-1 alpha-helical core and for a direct interaction between the N- and C-terminal domains.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2001", "authors": "Metivier R, Penot G, Flouriot G, Pakdel F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11682626", "url": "https://glygen.org/publication/PubMed/11682626" } ] }, { "title": "Crosstalk between CARM1 methylation and CBP acetylation on histone H3.", "journal": "Current biology : CB", "date": "2002", "authors": "Daujat S, Bauer UM, Shah V, Turner B, Berger S, Kouzarides T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "12498683", "url": "https://glygen.org/publication/PubMed/12498683" } ] }, { "title": "Two domains of the progesterone receptor interact with the estrogen receptor and are required for progesterone activation of the c-Src/Erk pathway in mammalian cells.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Ballare C, Uhrig M, Bechtold T, Sancho E, Di Domenico M, Migliaccio A, Auricchio F, Beato M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "12612073", "url": "https://glygen.org/publication/PubMed/12612073" } ] }, { "title": "Profiling of estrogen up- and down-regulated gene expression in human breast cancer cells: insights into gene networks and pathways underlying estrogenic control of proliferation and cell phenotype.", "journal": "Endocrinology", "date": "2003", "authors": "Frasor J, Danes JM, Komm B, Chang KC, Lyttle CR, Katzenellenbogen BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "12959972", "url": "https://glygen.org/publication/PubMed/12959972" } ] }, { "title": "Acetylation and methylation in nuclear receptor gene activation.", "journal": "Methods in enzymology", "date": "2003", "authors": "Xu W, Cho H, Evans RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "14631847", "url": "https://glygen.org/publication/PubMed/14631847" } ] }, { "title": "Estrogen receptor-alpha directs ordered, cyclical, and combinatorial recruitment of cofactors on a natural target promoter.", "journal": "Cell", "date": "2003", "authors": "Metivier R, Penot G, Hubner MR, Reid G, Brand H, Kos M, Gannon F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "14675539", "url": "https://glygen.org/publication/PubMed/14675539" } ] }, { "title": "Genome-wide identification of high-affinity estrogen response elements in human and mouse.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2004", "authors": "Bourdeau V, Deschenes J, Metivier R, Nagai Y, Nguyen D, Bretschneider N, Gannon F, White JH, Mader S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "15001666", "url": "https://glygen.org/publication/PubMed/15001666" } ] }, { "title": "Cellular control of gene expression by T-type cyclin/CDK9 complexes.", "journal": "Gene", "date": "2004", "authors": "Garriga J, Grana X", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "15276198", "url": "https://glygen.org/publication/PubMed/15276198" } ] }, { "title": "Estrogens and progesterone promote persistent CCND1 gene activation during G1 by inducing transcriptional derepression via c-Jun/c-Fos/estrogen receptor (progesterone receptor) complex assembly to a distal regulatory element and recruitment of cyclin D1 to its own gene promoter.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Cicatiello L, Addeo R, Sasso A, Altucci L, Petrizzi VB, Borgo R, Cancemi M, Caporali S, Caristi S, Scafoglio C, Teti D, Bresciani F, Perillo B, Weisz A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "15282324", "url": "https://glygen.org/publication/PubMed/15282324" } ] }, { "title": "Transcriptional complexes engaged by apo-estrogen receptor-alpha isoforms have divergent outcomes.", "journal": "The EMBO journal", "date": "2004", "authors": "Metivier R, Penot G, Carmouche RP, Hubner MR, Reid G, Denger S, Manu D, Brand H, Kos M, Benes V, Gannon F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "15343269", "url": "https://glygen.org/publication/PubMed/15343269" } ] }, { "title": "Discovery of estrogen receptor alpha target genes and response elements in breast tumor cells.", "journal": "Genome biology", "date": "2004", "authors": "Lin CY, Strom A, Vega VB, Kong SL, Yeo AL, Thomsen JS, Chan WC, Doray B, Bangarusamy DK, Ramasamy A, Vergara LA, Tang S, Chong A, Bajic VB, Miller LD, Gustafsson JA, Liu ET", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "15345050", "url": "https://glygen.org/publication/PubMed/15345050" } ] }, { "title": "Global gene expression analysis of estrogen receptor transcription factor cross talk in breast cancer: identification of estrogen-induced/activator protein-1-dependent genes.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2005", "authors": "DeNardo DG, Kim HT, Hilsenbeck S, Cuba V, Tsimelzon A, Brown PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "15514030", "url": "https://glygen.org/publication/PubMed/15514030" } ] }, { "title": "Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1.", "journal": "Cell", "date": "2005", "authors": "Krylova IN, Sablin EP, Moore J, Xu RX, Waitt GM, MacKay JA, Juzumiene D, Bynum JM, Madauss K, Montana V, Lebedeva L, Suzawa M, Williams JD, Williams SP, Guy RK, Thornton JW, Fletterick RJ, Willson TM, Ingraham HA", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "reference": [ { "type": "PubMed", "id": "15707893", "url": "https://glygen.org/publication/PubMed/15707893" } ] }, { "title": "Modulation of human nuclear receptor LRH-1 activity by phospholipids and SHP.", "journal": "Nature structural & molecular biology", "date": "2005", "authors": "Ortlund EA, Lee Y, Solomon IH, Hager JM, Safi R, Choi Y, Guan Z, Tripathy A, Raetz CR, McDonnell DP, Moore DD, Redinbo MR", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "reference": [ { "type": "PubMed", "id": "15723037", "url": "https://glygen.org/publication/PubMed/15723037" } ] }, { "title": "The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Wang W, Zhang C, Marimuthu A, Krupka HI, Tabrizizad M, Shelloe R, Mehra U, Eng K, Nguyen H, Settachatgul C, Powell B, Milburn MV, West BL", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "reference": [ { "type": "PubMed", "id": "15897460", "url": "https://glygen.org/publication/PubMed/15897460" } ] }, { "title": "GREB 1 is a critical regulator of hormone dependent breast cancer growth.", "journal": "Breast cancer research and treatment", "date": "2005", "authors": "Rae JM, Johnson MD, Scheys JO, Cordero KE, Larios JM, Lippman ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "15986123", "url": "https://glygen.org/publication/PubMed/15986123" } ] }, { "title": "Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1.", "journal": "Cell", "date": "2005", "authors": "Carroll JS, Liu XS, Brodsky AS, Li W, Meyer CA, Szary AJ, Eeckhoute J, Shao W, Hestermann EV, Geistlinger TR, Fox EA, Silver PA, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "16009131", "url": "https://glygen.org/publication/PubMed/16009131" } ] }, { "title": "Cathepsin D: newly discovered functions of a long-standing aspartic protease in cancer and apoptosis.", "journal": "Cancer letters", "date": "2006", "authors": "Liaudet-Coopman E, Beaujouin M, Derocq D, Garcia M, Glondu-Lassis M, Laurent-Matha V, Prebois C, Rochefort H, Vignon F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "16046058", "url": "https://glygen.org/publication/PubMed/16046058" } ] }, { "title": "From the Cover: Location analysis of estrogen receptor alpha target promoters reveals that FOXA1 defines a domain of the estrogen response.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Laganiere J, Deblois G, Lefebvre C, Bataille AR, Robert F, Giguere V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "16087863", "url": "https://glygen.org/publication/PubMed/16087863" } ] }, { "title": "Protein kinase A-dependent synergism between GATA factors and the nuclear receptor, liver receptor homolog-1, regulates human aromatase (CYP19) PII promoter activity in breast cancer cells.", "journal": "Endocrinology", "date": "2005", "authors": "Bouchard MF, Taniguchi H, Viger RS", "evidence": [ { "database": "iPTMnet", "id": "O00482", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00482" } ], "reference": [ { "type": "PubMed", "id": "16109788", "url": "https://glygen.org/publication/PubMed/16109788" } ] }, { "title": "Downstream targets of growth factor and oestrogen signalling and endocrine resistance: the potential roles of c-Myc, cyclin D1 and cyclin E.", "journal": "Endocrine-related cancer", "date": "2005", "authors": "Butt AJ, McNeil CM, Musgrove EA, Sutherland RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "16113099", "url": "https://glygen.org/publication/PubMed/16113099" } ] }, { "title": "Crystal structure of the human LRH-1 DBD-DNA complex reveals Ftz-F1 domain positioning is required for receptor activity.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Solomon IH, Hager JM, Safi R, McDonnell DP, Redinbo MR, Ortlund EA", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "reference": [ { "type": "PubMed", "id": "16289203", "url": "https://glygen.org/publication/PubMed/16289203" } ] }, { "title": "Mechanism of estrogen activation of c-myc oncogene expression.", "journal": "Oncogene", "date": "1992", "authors": "Dubik D, Shiu RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "1630819", "url": "https://glygen.org/publication/PubMed/1630819" } ] }, { "title": "A cell-type-specific transcriptional network required for estrogen regulation of cyclin D1 and cell cycle progression in breast cancer.", "journal": "Genes & development", "date": "2006", "authors": "Eeckhoute J, Carroll JS, Geistlinger TR, Torres-Arzayus MI, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "16980581", "url": "https://glygen.org/publication/PubMed/16980581" } ] }, { "title": "Genome-wide analysis of estrogen receptor binding sites.", "journal": "Nature genetics", "date": "2006", "authors": "Carroll JS, Meyer CA, Song J, Li W, Geistlinger TR, Eeckhoute J, Brodsky AS, Keeton EK, Fertuck KC, Hall GF, Wang Q, Bekiranov S, Sementchenko V, Fox EA, Silver PA, Gingeras TR, Liu XS, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "17013392", "url": "https://glygen.org/publication/PubMed/17013392" } ] }, { "title": "Cooperative demethylation by JMJD2C and LSD1 promotes androgen receptor-dependent gene expression.", "journal": "Nature cell biology", "date": "2007", "authors": "Wissmann M, Yin N, Muller JM, Greschik H, Fodor BD, Jenuwein T, Vogler C, Schneider R, Gunther T, Buettner R, Metzger E, Schule R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "17277772", "url": "https://glygen.org/publication/PubMed/17277772" } ] }, { "title": "Regulation of GREB1 transcription by estrogen receptor alpha through a multipartite enhancer spread over 20 kb of upstream flanking sequences.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Deschenes J, Bourdeau V, White JH, Mader S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "17463000", "url": "https://glygen.org/publication/PubMed/17463000" } ] }, { "title": "The DEAD-box p68/p72 proteins and the noncoding RNA steroid receptor activator SRA: eclectic regulators of disparate biological functions.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2007", "authors": "Caretti G, Lei EP, Sartorelli V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "17495528", "url": "https://glygen.org/publication/PubMed/17495528" } ] }, { "title": "Novel estrogen receptor-alpha binding sites and estradiol target genes identified by chromatin immunoprecipitation cloning in breast cancer.", "journal": "Cancer research", "date": "2007", "authors": "Lin Z, Reierstad S, Huang CC, Bulun SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "17510434", "url": "https://glygen.org/publication/PubMed/17510434" } ] }, { "title": "The AP-1 transcription factor regulates breast cancer cell growth via cyclins and E2F factors.", "journal": "Oncogene", "date": "2008", "authors": "Shen Q, Uray IP, Li Y, Krisko TI, Strecker TE, Kim HT, Brown PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "17637753", "url": "https://glygen.org/publication/PubMed/17637753" } ] }, { "title": "Long-range activation of GREB1 by estrogen receptor via three distal consensus estrogen-responsive elements in breast cancer cells.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007", "authors": "Sun J, Nawaz Z, Slingerland JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "17666587", "url": "https://glygen.org/publication/PubMed/17666587" } ] }, { "title": "Mechanism of and requirement for estrogen-regulated MYB expression in estrogen-receptor-positive breast cancer cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Drabsch Y, Hugo H, Zhang R, Dowhan DH, Miao YR, Gewirtz AM, Barry SC, Ramsay RG, Gonda TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "17690249", "url": "https://glygen.org/publication/PubMed/17690249" } ] }, { "title": "DNA oxidation as triggered by H3K9me2 demethylation drives estrogen-induced gene expression.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "Perillo B, Ombra MN, Bertoni A, Cuozzo C, Sacchetti S, Sasso A, Chiariotti L, Malorni A, Abbondanza C, Avvedimento EV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "18187655", "url": "https://glygen.org/publication/PubMed/18187655" } ] }, { "title": "Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators.", "journal": "The EMBO journal", "date": "2008", "authors": "Stedman W, Kang H, Lin S, Kissil JL, Bartolomei MS, Lieberman PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "18219272", "url": "https://glygen.org/publication/PubMed/18219272" } ] }, { "title": "Genome-wide mapping and characterization of hypomethylated sites in human tissues and breast cancer cell lines.", "journal": "Genome research", "date": "2008", "authors": "Shann YJ, Cheng C, Chiao CH, Chen DT, Li PH, Hsu MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "18256232", "url": "https://glygen.org/publication/PubMed/18256232" } ] }, { "title": "Transient cyclical methylation of promoter DNA.", "journal": "Nature", "date": "2008", "authors": "Kangaspeska S, Stride B, Metivier R, Polycarpou-Schwarz M, Ibberson D, Carmouche RP, Benes V, Gannon F, Reid G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "18322535", "url": "https://glygen.org/publication/PubMed/18322535" } ] }, { "title": "FoxA1 translates epigenetic signatures into enhancer-driven lineage-specific transcription.", "journal": "Cell", "date": "2008", "authors": "Lupien M, Eeckhoute J, Meyer CA, Wang Q, Zhang Y, Li W, Carroll JS, Liu XS, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "18358809", "url": "https://glygen.org/publication/PubMed/18358809" } ] }, { "title": "Estrogen and MYB in breast cancer: potential for new therapies.", "journal": "Expert opinion on biological therapy", "date": "2008", "authors": "Gonda TJ, Leo P, Ramsay RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "18476782", "url": "https://glygen.org/publication/PubMed/18476782" } ] }, { "title": "Meta-analysis of human cancer microarrays reveals GATA3 is integral to the estrogen receptor alpha pathway.", "journal": "Molecular cancer", "date": "2008", "authors": "Wilson BJ, Giguere V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "18533032", "url": "https://glygen.org/publication/PubMed/18533032" } ] }, { "title": "Cathepsin D: a cellular roadmap.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Zaidi N, Maurer A, Nieke S, Kalbacher H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "18762174", "url": "https://glygen.org/publication/PubMed/18762174" } ] }, { "title": "Marking time: the dynamic role of chromatin and covalent modification in transcription.", "journal": "The international journal of biochemistry & cell biology", "date": "2009", "authors": "Reid G, Gallais R, Metivier R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "18805503", "url": "https://glygen.org/publication/PubMed/18805503" } ] }, { "title": "CXXC5 is a novel BMP4-regulated modulator of Wnt signaling in neural stem cells.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Andersson T, Sodersten E, Duckworth JK, Cascante A, Fritz N, Sacchetti P, Cervenka I, Bryja V, Hermanson O", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "19001364", "url": "https://glygen.org/publication/PubMed/19001364" } ] }, { "title": "Transcriptional regulation of the cyclin D1 gene at a glance.", "journal": "Journal of cell science", "date": "2008", "authors": "Klein EA, Assoian RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "19020303", "url": "https://glygen.org/publication/PubMed/19020303" } ] }, { "title": "The lysine demethylase LSD1 (KDM1) is required for maintenance of global DNA methylation.", "journal": "Nature genetics", "date": "2009", "authors": "Wang J, Hevi S, Kurash JK, Lei H, Gay F, Bajko J, Su H, Sun W, Chang H, Xu G, Gaudet F, Li E, Chen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "19098913", "url": "https://glygen.org/publication/PubMed/19098913" } ] }, { "title": "Breast cancer, estrogen receptor and ligands.", "journal": "Archiv der Pharmazie", "date": "2009", "authors": "Bai Z, Gust R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "19274700", "url": "https://glygen.org/publication/PubMed/19274700" } ] }, { "title": "Histone modifications at human enhancers reflect global cell-type-specific gene expression.", "journal": "Nature", "date": "2009", "authors": "Heintzman ND, Hon GC, Hawkins RD, Kheradpour P, Stark A, Harp LF, Ye Z, Lee LK, Stuart RK, Ching CW, Ching KA, Antosiewicz-Bourget JE, Liu H, Zhang X, Green RD, Lobanenkov VV, Stewart R, Thomson JA, Crawford GE, Kellis M, Ren B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "19295514", "url": "https://glygen.org/publication/PubMed/19295514" } ] }, { "title": "Genomic responses from the estrogen-responsive element-dependent signaling pathway mediated by estrogen receptor alpha are required to elicit cellular alterations.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Nott SL, Huang Y, Li X, Fluharty BR, Qiu X, Welshons WV, Yeh S, Muyan M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "19321454", "url": "https://glygen.org/publication/PubMed/19321454" } ] }, { "title": "E2-mediated cathepsin D (CTSD) activation involves looping of distal enhancer elements.", "journal": "Molecular oncology", "date": "2008", "authors": "Bretschneider N, Kangaspeska S, Seifert M, Reid G, Gannon F, Denger S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "19383337", "url": "https://glygen.org/publication/PubMed/19383337" } ] }, { "title": "The DEAD-box protein p72 regulates ERalpha-/oestrogen-dependent transcription and cell growth, and is associated with improved survival in ERalpha-positive breast cancer.", "journal": "Oncogene", "date": "2009", "authors": "Wortham NC, Ahamed E, Nicol SM, Thomas RS, Periyasamy M, Jiang J, Ochocka AM, Shousha S, Huson L, Bray SE, Coombes RC, Ali S, Fuller-Pace FV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "19718048", "url": "https://glygen.org/publication/PubMed/19718048" } ] }, { "title": "GPS2-dependent corepressor/SUMO pathways govern anti-inflammatory actions of LRH-1 and LXRbeta in the hepatic acute phase response.", "journal": "Genes & development", "date": "2010", "authors": "Venteclef N, Jakobsson T, Ehrlund A, Damdimopoulos A, Mikkonen L, Ellis E, Nilsson LM, Parini P, Janne OA, Gustafsson JA, Steffensen KR, Treuter E", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "reference": [ { "type": "PubMed", "id": "20159957", "url": "https://glygen.org/publication/PubMed/20159957" } ] }, { "title": "A CTCF-independent role for cohesin in tissue-specific transcription.", "journal": "Genome research", "date": "2010", "authors": "Schmidt D, Schwalie PC, Ross-Innes CS, Hurtado A, Brown GD, Carroll JS, Flicek P, Odom DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "20219941", "url": "https://glygen.org/publication/PubMed/20219941" } ] }, { "title": "A novel Wilms tumor 1 (WT1) target gene negatively regulates the WNT signaling pathway.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Kim MS, Yoon SK, Bollig F, Kitagaki J, Hur W, Whye NJ, Wu YP, Rivera MN, Park JY, Kim HS, Malik K, Bell DW, Englert C, Perantoni AO, Lee SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "20220130", "url": "https://glygen.org/publication/PubMed/20220130" } ] }, { "title": "Novel trans-tail regulation of H2B ubiquitylation and H3K4 methylation by the N terminus of histone H2A.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Zheng S, Wyrick JJ, Reese JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "20498280", "url": "https://glygen.org/publication/PubMed/20498280" } ] }, { "title": "Role of EBAG9 protein in coat protein complex I-dependent glycoprotein maturation and secretion processes in tumor cells.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2010", "authors": "Wolf J, Reimer TA, Schuck S, Ruder C, Gerlach K, Muller EC, Otto A, Dorken B, Rehm A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "20570965", "url": "https://glygen.org/publication/PubMed/20570965" } ] }, { "title": "The histone demethylase JMJD2B is regulated by estrogen receptor alpha and hypoxia, and is a key mediator of estrogen induced growth.", "journal": "Cancer research", "date": "2010", "authors": "Yang J, Jubb AM, Pike L, Buffa FM, Turley H, Baban D, Leek R, Gatter KC, Ragoussis J, Harris AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "20682797", "url": "https://glygen.org/publication/PubMed/20682797" } ] }, { "title": "Histone H3K27ac separates active from poised enhancers and predicts developmental state.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Creyghton MP, Cheng AW, Welstead GG, Kooistra T, Carey BW, Steine EJ, Hanna J, Lodato MA, Frampton GM, Sharp PA, Boyer LA, Young RA, Jaenisch R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "21106759", "url": "https://glygen.org/publication/PubMed/21106759" } ] }, { "title": "FOXA1 is a key determinant of estrogen receptor function and endocrine response.", "journal": "Nature genetics", "date": "2011", "authors": "Hurtado A, Holmes KA, Ross-Innes CS, Schmidt D, Carroll JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "21151129", "url": "https://glygen.org/publication/PubMed/21151129" } ] }, { "title": "Histone demethylase JMJD2B functions as a co-factor of estrogen receptor in breast cancer proliferation and mammary gland development.", "journal": "PloS one", "date": "2011", "authors": "Kawazu M, Saso K, Tong KI, McQuire T, Goto K, Son DO, Wakeham A, Miyagishi M, Mak TW, Okada H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "21445275", "url": "https://glygen.org/publication/PubMed/21445275" } ] }, { "title": "Intracellular estrogen receptor-binding fragment-associated antigen 9 exerts in vivo tumor-promoting effects via its coiled-coil region.", "journal": "International journal of oncology", "date": "2011", "authors": "Maeyama Y, Otsu M, Kubo S, Yamano T, Iimura Y, Onodera M, Kondo S, Sakiyama Y, Ariga T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "21573489", "url": "https://glygen.org/publication/PubMed/21573489" } ] }, { "title": "Strong association between c-myb and oestrogen-receptor expression in human breast cancer.", "journal": "Oncogene", "date": "1990", "authors": "Guerin M, Sheng ZM, Andrieu N, Riou G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "2181374", "url": "https://glygen.org/publication/PubMed/2181374" } ] }, { "title": "Estrogen induces c-myc gene expression via an upstream enhancer activated by the estrogen receptor and the AP-1 transcription factor.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2011", "authors": "Wang C, Mayer JA, Mazumdar A, Fertuck K, Kim H, Brown M, Brown PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "21835891", "url": "https://glygen.org/publication/PubMed/21835891" } ] }, { "title": "Cellular reprogramming by the conjoint action of ERalpha, FOXA1, and GATA3 to a ligand-inducible growth state.", "journal": "Molecular systems biology", "date": "2011", "authors": "Kong SL, Li G, Loh SL, Sung WK, Liu ET", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "21878914", "url": "https://glygen.org/publication/PubMed/21878914" } ] }, { "title": "FOXA1: master of steroid receptor function in cancer.", "journal": "The EMBO journal", "date": "2011", "authors": "Augello MA, Hickey TE, Knudsen KE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "21934649", "url": "https://glygen.org/publication/PubMed/21934649" } ] }, { "title": "Gene regulation by cohesin in cancer: is the ring an unexpected party to proliferation?", "journal": "Molecular cancer research : MCR", "date": "2011", "authors": "Rhodes JM, McEwan M, Horsfield JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "21940756", "url": "https://glygen.org/publication/PubMed/21940756" } ] }, { "title": "Pioneer transcription factors: establishing competence for gene expression.", "journal": "Genes & development", "date": "2011", "authors": "Zaret KS, Carroll JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "22056668", "url": "https://glygen.org/publication/PubMed/22056668" } ] }, { "title": "Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation.", "journal": "Cell", "date": "2012", "authors": "Li G, Ruan X, Auerbach RK, Sandhu KS, Zheng M, Wang P, Poh HM, Goh Y, Lim J, Zhang J, Sim HS, Peh SQ, Mulawadi FH, Ong CT, Orlov YL, Hong S, Zhang Z, Landt S, Raha D, Euskirchen G, Wei CL, Ge W, Wang H, Davis C, Fisher-Aylor KI, Mortazavi A, Gerstein M, Gingeras T, Wold B, Sun Y, Fullwood MJ, Cheung E, Liu E, Sung WK, Snyder M, Ruan Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "22265404", "url": "https://glygen.org/publication/PubMed/22265404" } ] }, { "title": "Estrogen receptor-alpha recruits P-TEFb to overcome transcriptional pausing in intron 1 of the MYB gene.", "journal": "Nucleic acids research", "date": "2012", "authors": "Mitra P, Pereira LA, Drabsch Y, Ramsay RG, Gonda TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "22492511", "url": "https://glygen.org/publication/PubMed/22492511" } ] }, { "title": "Non-overlapping progesterone receptor cistromes contribute to cell-specific transcriptional outcomes.", "journal": "PloS one", "date": "2012", "authors": "Clarke CL, Graham JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "22545144", "url": "https://glygen.org/publication/PubMed/22545144" } ] }, { "title": "The elements of human cyclin D1 promoter and regulation involved.", "journal": "Clinical epigenetics", "date": "2011", "authors": "Guo ZY, Hao XH, Tan FF, Pei X, Shang LM, Jiang XL, Yang F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "22704330", "url": "https://glygen.org/publication/PubMed/22704330" } ] }, { "title": "Cohesin is required for activation of MYC by estradiol.", "journal": "PloS one", "date": "2012", "authors": "McEwan MV, Eccles MR, Horsfield JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "23145106", "url": "https://glygen.org/publication/PubMed/23145106" } ] }, { "title": "GATA3 acts upstream of FOXA1 in mediating ESR1 binding by shaping enhancer accessibility.", "journal": "Genome research", "date": "2013", "authors": "Theodorou V, Stark R, Menon S, Carroll JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "23172872", "url": "https://glygen.org/publication/PubMed/23172872" } ] }, { "title": "Cooperating transcription factors mediate the function of estrogen receptor.", "journal": "Chromosoma", "date": "2013", "authors": "Fiorito E, Katika MR, Hurtado A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "23192763", "url": "https://glygen.org/publication/PubMed/23192763" } ] }, { "title": "Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2.", "journal": "Nucleic acids research", "date": "2013", "authors": "Aras S, Pak O, Sommer N, Finley R Jr, Huttemann M, Weissmann N, Grossman LI", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "23303788", "url": "https://glygen.org/publication/PubMed/23303788" } ] }, { "title": "Endogenous purification reveals GREB1 as a key estrogen receptor regulatory factor.", "journal": "Cell reports", "date": "2013", "authors": "Mohammed H, D'Santos C, Serandour AA, Ali HR, Brown GD, Atkins A, Rueda OM, Holmes KA, Theodorou V, Robinson JL, Zwart W, Saadi A, Ross-Innes CS, Chin SF, Menon S, Stingl J, Palmieri C, Caldas C, Carroll JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "23403292", "url": "https://glygen.org/publication/PubMed/23403292" } ] }, { "title": "The lysine demethylase, KDM4B, is a key molecule in androgen receptor signalling and turnover.", "journal": "Nucleic acids research", "date": "2013", "authors": "Coffey K, Rogerson L, Ryan-Munden C, Alkharaif D, Stockley J, Heer R, Sahadevan K, O'Neill D, Jones D, Darby S, Staller P, Mantilla A, Gaughan L, Robson CN", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "23435229", "url": "https://glygen.org/publication/PubMed/23435229" } ] }, { "title": "KDM4B is a master regulator of the estrogen receptor signalling cascade.", "journal": "Nucleic acids research", "date": "2013", "authors": "Gaughan L, Stockley J, Coffey K, O'Neill D, Jones DL, Wade M, Wright J, Moore M, Tse S, Rogerson L, Robson CN", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "23723241", "url": "https://glygen.org/publication/PubMed/23723241" } ] }, { "title": "CXXC5 Associates with Smads to Mediate TNF-alpha Induced Apoptosis.", "journal": "Current molecular medicine", "date": "2013", "authors": "Wang X, Liao P, Fan X, Wan Y, Wang Y, Li Y, Jiang Z, Ye X, Mo X, Ocorr K, Deng Y, Wu X, Yuan W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "23906331", "url": "https://glygen.org/publication/PubMed/23906331" } ] }, { "title": "Increased RCAS1 expression is associated with advanced histopathological stage and poor prognosis in patients with gastric adenocarcinoma.", "journal": "Disease markers", "date": "2013", "authors": "Giaginis C, Efkarpidis T, Alexandrou P, Patsouris E, Kouraklis G, Theocharis S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "24167369", "url": "https://glygen.org/publication/PubMed/24167369" } ] }, { "title": "An H2A histone isotype regulates estrogen receptor target genes by mediating enhancer-promoter-3'-UTR interactions in breast cancer cells.", "journal": "Nucleic acids research", "date": "2014", "authors": "Su CH, Tzeng TY, Cheng C, Hsu MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "24371278", "url": "https://glygen.org/publication/PubMed/24371278" } ] }, { "title": "Identification of miR-26 as a key mediator of estrogen stimulated cell proliferation by targeting CHD1, GREB1 and KPNA2.", "journal": "Breast cancer research : BCR", "date": "2014", "authors": "Tan S, Ding K, Li R, Zhang W, Li G, Kong X, Qian P, Lobie PE, Zhu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "24735615", "url": "https://glygen.org/publication/PubMed/24735615" } ] }, { "title": "Cohesin in cancer: chromosome segregation and beyond.", "journal": "Nature reviews. Cancer", "date": "2014", "authors": "Losada A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "24854081", "url": "https://glygen.org/publication/PubMed/24854081" } ] }, { "title": "Apoptotic function of tumor-associated antigen RCAS1 in oral squamous cell carcinoma.", "journal": "Journal of translational medicine", "date": "2014", "authors": "Tanaka H, Toyoshima T, Sonoda K, Kitamura R, Sasaguri M, Kawano S, Matsubara R, Goto Y, Nakamura S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "24885040", "url": "https://glygen.org/publication/PubMed/24885040" } ] }, { "title": "A functional interplay between ZNF217 and estrogen receptor alpha exists in luminal breast cancers.", "journal": "Molecular oncology", "date": "2014", "authors": "Nguyen NT, Vendrell JA, Poulard C, Gyorffy B, Goddard-Leon S, Bieche I, Corbo L, Le Romancer M, Bachelot T, Treilleux I, Cohen PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "24973012", "url": "https://glygen.org/publication/PubMed/24973012" } ] }, { "title": "Consideration of GREB1 as a potential therapeutic target for hormone-responsive or endocrine-resistant cancers.", "journal": "Expert opinion on therapeutic targets", "date": "2014", "authors": "Hodgkinson KM, Vanderhyden BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "24998469", "url": "https://glygen.org/publication/PubMed/24998469" } ] }, { "title": "Serum receptor-binding cancer antigen expressed on SiSo cells (RCAS1) as a diagnostic and prognostic marker for non-small cell lung cancer.", "journal": "Tumori", "date": "2014", "authors": "Xu C, Yu LK, Zhang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "25296600", "url": "https://glygen.org/publication/PubMed/25296600" } ] }, { "title": "EBAG9 modulates host immune defense against tumor formation and metastasis by regulating cytotoxic activity of T lymphocytes.", "journal": "Oncogenesis", "date": "2014", "authors": "Miyazaki T, Ikeda K, Horie-Inoue K, Kondo T, Takahashi S, Inoue S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "25365482", "url": "https://glygen.org/publication/PubMed/25365482" } ] }, { "title": "CXXC5 regulates differentiation of C2C12 myoblasts into myocytes.", "journal": "Journal of muscle research and cell motility", "date": "2014", "authors": "Li G, Ye X, Peng X, Deng Y, Yuan W, Li Y, Mo X, Wang X, Wan Y, Liu X, Chen T, Jiang Z, Fan X, Wu X, Wang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "25433557", "url": "https://glygen.org/publication/PubMed/25433557" } ] }, { "title": "Cohesin modulates transcription of estrogen-responsive genes.", "journal": "Biochimica et biophysica acta", "date": "2015", "authors": "Antony J, Dasgupta T, Rhodes JM, McEwan MV, Print CG, O'Sullivan JM, Horsfield JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "25542856", "url": "https://glygen.org/publication/PubMed/25542856" } ] }, { "title": "CXXC5 is a negative-feedback regulator of the Wnt/beta-catenin pathway involved in osteoblast differentiation.", "journal": "Cell death and differentiation", "date": "2015", "authors": "Kim HY, Yoon JY, Yun JH, Cho KW, Lee SH, Rhee YM, Jung HS, Lim HJ, Lee H, Choi J, Heo JN, Lee W, No KT, Min D, Choi KY", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "25633194", "url": "https://glygen.org/publication/PubMed/25633194" } ] }, { "title": "Two Faces of Cathepsin D: Physiological Guardian Angel and Pathological Demon.", "journal": "Biology and medicine (Aligarh)", "date": "2014", "authors": "Khalkhali-Ellis Z, Hendrix MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "25663755", "url": "https://glygen.org/publication/PubMed/25663755" } ] }, { "title": "Expression of RCAS1 correlates with urothelial bladder cancer malignancy.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Jozwicki W, Brozyna AA, Siekiera J, Slominski AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "25674852", "url": "https://glygen.org/publication/PubMed/25674852" } ] }, { "title": "Structure of a biologically active estrogen receptor-coactivator complex on DNA.", "journal": "Molecular cell", "date": "2015", "authors": "Yi P, Wang Z, Feng Q, Pintilie GD, Foulds CE, Lanz RB, Ludtke SJ, Schmid MF, Chiu W, O'Malley BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "25728767", "url": "https://glygen.org/publication/PubMed/25728767" } ] }, { "title": "The Dishevelled-binding protein CXXC5 negatively regulates cutaneous wound healing.", "journal": "The Journal of experimental medicine", "date": "2015", "authors": "Lee SH, Kim MY, Kim HY, Lee YM, Kim H, Nam KA, Roh MR, Min do S, Chung KY, Choi KY", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "26056233", "url": "https://glygen.org/publication/PubMed/26056233" } ] }, { "title": "Progesterone receptor modulates ERalpha action in breast cancer.", "journal": "Nature", "date": "2015", "authors": "Mohammed H, Russell IA, Stark R, Rueda OM, Hickey TE, Tarulli GA, Serandour AA, Birrell SN, Bruna A, Saadi A, Menon S, Hadfield J, Pugh M, Raj GV, Brown GD, D'Santos C, Robinson JL, Silva G, Launchbury R, Perou CM, Stingl J, Caldas C, Tilley WD, Carroll JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "26153859", "url": "https://glygen.org/publication/PubMed/26153859" } ] }, { "title": "MiR-26b/KPNA2 axis inhibits epithelial ovarian carcinoma proliferation and metastasis through downregulating OCT4.", "journal": "Oncotarget", "date": "2015", "authors": "Lin J, Zhang L, Huang H, Huang Y, Huang L, Wang J, Huang S, He L, Zhou Y, Jia W, Yun J, Luo R, Zheng M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "26204489", "url": "https://glygen.org/publication/PubMed/26204489" } ] }, { "title": "CXXC5 plays a role as a transcription activator for myelin genes on oligodendrocyte differentiation.", "journal": "Glia", "date": "2016", "authors": "Kim MY, Kim HY, Hong J, Kim D, Lee H, Cheong E, Lee Y, Roth J, Kim DG, Min do S, Choi KY", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "26462610", "url": "https://glygen.org/publication/PubMed/26462610" } ] }, { "title": "Trefoil factor family peptides--friends or foes?", "journal": "Biomolecular concepts", "date": "2015", "authors": "Busch M, Dunker N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "26479350", "url": "https://glygen.org/publication/PubMed/26479350" } ] }, { "title": "Steroid Receptors Reprogram FoxA1 Occupancy through Dynamic Chromatin Transitions.", "journal": "Cell", "date": "2016", "authors": "Swinstead EE, Miranda TB, Paakinaho V, Baek S, Goldstein I, Hawkins M, Karpova TS, Ball D, Mazza D, Lavis LD, Grimm JB, Morisaki T, Grontved L, Presman DM, Hager GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "27062924", "url": "https://glygen.org/publication/PubMed/27062924" } ] }, { "title": "Estradiol-Estrogen Receptor alpha Mediates the Expression of the CXXC5 Gene through the Estrogen Response Element-Dependent Signaling Pathway.", "journal": "Scientific reports", "date": "2016", "authors": "Yasar P, Ayaz G, Muyan M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "27886276", "url": "https://glygen.org/publication/PubMed/27886276" } ] }, { "title": "Membrane and Nuclear Estrogen Receptor Alpha Actions: From Tissue Specificity to Medical Implications.", "journal": "Physiological reviews", "date": "2017", "authors": "Arnal JF, Lenfant F, Metivier R, Flouriot G, Henrion D, Adlanmerini M, Fontaine C, Gourdy P, Chambon P, Katzenellenbogen B, Katzenellenbogen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "28539435", "url": "https://glygen.org/publication/PubMed/28539435" } ] }, { "title": "Estrogen-responsive element of the human pS2 gene is an imperfectly palindromic sequence.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Berry M, Nunez AM, Chambon P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "2919170", "url": "https://glygen.org/publication/PubMed/2919170" } ] }, { "title": "Transcriptional regulation of c-myc oncogene expression by estrogen in hormone-responsive human breast cancer cells.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Dubik D, Shiu RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "3045126", "url": "https://glygen.org/publication/PubMed/3045126" } ] }, { "title": "A transcriptional arrest mechanism involved in controlling constitutive levels of mouse c-myb mRNA.", "journal": "Oncogene", "date": "1988", "authors": "Watson RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "3281094", "url": "https://glygen.org/publication/PubMed/3281094" } ] }, { "title": "Nuclear receptor subfamily 5 group A member 2 (NR5A2): role in health and diseases.", "journal": "Molecular biology reports", "date": "2021", "authors": "Sandhu N, Rana S, Meena K", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" } ], "reference": [ { "type": "PubMed", "id": "34643922", "url": "https://glygen.org/publication/PubMed/34643922" } ] }, { "title": "Differential expression of c-myb mRNA in murine B lymphomas by a block to transcription elongation.", "journal": "Science (New York, N.Y.)", "date": "1987", "authors": "Bender TP, Thompson CB, Kuehl WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "3498214", "url": "https://glygen.org/publication/PubMed/3498214" } ] }, { "title": "LRH-1/NR5A2 interacts with the glucocorticoid receptor to regulate glucocorticoid resistance.", "journal": "EMBO reports", "date": "2022", "authors": "Michalek S, Goj T, Plazzo AP, Marovca B, Bornhauser B, Brunner T", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" } ], "reference": [ { "type": "PubMed", "id": "35801407", "url": "https://glygen.org/publication/PubMed/35801407" } ] }, { "title": "MicroRNA-433-3p enhances chemosensitivity of glioma to cisplatin by downregulating NR5A2.", "journal": "Brain and behavior", "date": "2022-12", "authors": "Li Jun, Gu Jingshun, Wang Juntong, You Aiwu, Zhang Yuyan, Rao Guomin, Li Shuang, Ge Xuehua, Zhang Kun, Wang Dongchun", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" } ], "reference": [ { "type": "PubMed", "id": "36303447", "url": "https://glygen.org/publication/PubMed/36303447" } ] }, { "title": "Nuclear receptor 5A2 regulation of Agrp underlies olanzapine-induced hyperphagia.", "journal": "Molecular psychiatry", "date": "2023-02-10", "authors": "Zapata Rizaldy C, Zhang Dinghong, Libster Avraham, Porcu Alessandra, Montilla-Perez Patricia, Nur Aisha, Xu Baijie, Zhang Zhi, Correa Stephanie M, Liu Chen, Telese Francesca, Osborn Olivia", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" } ], "reference": [ { "type": "PubMed", "id": "36765131", "url": "https://glygen.org/publication/PubMed/36765131" } ] }, { "title": "Stimulation of c-myc oncogene expression associated with estrogen-induced proliferation of human breast cancer cells.", "journal": "Cancer research", "date": "1987", "authors": "Dubik D, Dembinski TC, Shiu RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "3677090", "url": "https://glygen.org/publication/PubMed/3677090" } ] }, { "title": "Aberrant phosphorylation of human LRH1 at serine 510 is predictable of hepatocellular carcinoma recurrence.", "journal": "Clinical and experimental medicine", "date": "2023-12", "authors": "Nishimagi Atsushi, Kobayashi Makoto, Sugimoto Kotaro, Kofunato Yasuhide, Sato Naoya, Haga Junichiro, Ishigame Teruhide, Kimura Takashi, Kenjo Akira, Kobayashi Yasuyuki, Hashimoto Yuko, Marubashi Shigeru, Chiba Hideki", "evidence": [ { "database": "RefSeq", "id": "NP_001263393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263393" } ], "reference": [ { "type": "PubMed", "id": "37285077", "url": "https://glygen.org/publication/PubMed/37285077" } ] }, { "title": "Transforming p21ras mutants and c-Ets-2 activate the cyclin D1 promoter through distinguishable regions.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Albanese C, Johnson J, Watanabe G, Eklund N, Vu D, Arnold A, Pestell RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "7559524", "url": "https://glygen.org/publication/PubMed/7559524" } ] }, { "title": "Characterization of the proximal estrogen-responsive element of human cathepsin D gene.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1994", "authors": "Augereau P, Miralles F, Cavailles V, Gaudelet C, Parker M, Rochefort H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "7935485", "url": "https://glygen.org/publication/PubMed/7935485" } ] }, { "title": "Interaction of proteins with transcriptionally active estrogen receptors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Cavailles V, Dauvois S, Danielian PS, Parker MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "7937828", "url": "https://glygen.org/publication/PubMed/7937828" } ] }, { "title": "Estrogen receptor-Sp1 complexes mediate estrogen-induced cathepsin D gene expression in MCF-7 human breast cancer cells.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Krishnan V, Wang X, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "8195246", "url": "https://glygen.org/publication/PubMed/8195246" } ] }, { "title": "Estrogen receptor-associated proteins: possible mediators of hormone-induced transcription.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Halachmi S, Marden E, Martin G, MacKay H, Abbondanza C, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "8197458", "url": "https://glygen.org/publication/PubMed/8197458" } ] }, { "title": "Cathepsin D gene is controlled by a mixed promoter, and estrogens stimulate only TATA-dependent transcription in breast cancer cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Cavailles V, Augereau P, Rochefort H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "8419924", "url": "https://glygen.org/publication/PubMed/8419924" } ] }, { "title": "p300 is a component of an estrogen receptor coactivator complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Hanstein B, Eckner R, DiRenzo J, Halachmi S, Liu H, Searcy B, Kurokawa R, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "8876171", "url": "https://glygen.org/publication/PubMed/8876171" } ] }, { "title": "Identification of a functional imperfect estrogen-responsive element in the 5'-promoter region of the human cathepsin D gene.", "journal": "Biochemistry", "date": "1997", "authors": "Wang F, Porter W, Xing W, Archer TK, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9201922", "url": "https://glygen.org/publication/PubMed/9201922" } ] }, { "title": "Molecular basis of agonism and antagonism in the oestrogen receptor.", "journal": "Nature", "date": "1997", "authors": "Brzozowski AM, Pike AC, Dauter Z, Hubbard RE, Bonn T, Engstrom O, Ohman L, Greene GL, Gustafsson JA, Carlquist M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9338790", "url": "https://glygen.org/publication/PubMed/9338790" } ] }, { "title": "Nucleosome positioning and transcription-associated chromatin alterations on the human estrogen-responsive pS2 promoter.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Sewack GF, Hansen U", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9388265", "url": "https://glygen.org/publication/PubMed/9388265" } ] }, { "title": "Functional and physical interactions between the estrogen receptor Sp1 and nuclear aryl hydrocarbon receptor complexes.", "journal": "Nucleic acids research", "date": "1998", "authors": "Wang F, Hoivik D, Pollenz R, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9611253", "url": "https://glygen.org/publication/PubMed/9611253" } ] }, { "title": "c-Myc or cyclin D1 mimics estrogen effects on cyclin E-Cdk2 activation and cell cycle reentry.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Prall OW, Rogan EM, Musgrove EA, Watts CK, Sutherland RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9671459", "url": "https://glygen.org/publication/PubMed/9671459" } ] }, { "title": "Upstream stimulatory factors mediate estrogen receptor activation of the cathepsin D promoter.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1998", "authors": "Xing W, Archer TK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "9731700", "url": "https://glygen.org/publication/PubMed/9731700" } ] }, { "title": "Cloning and characterization of a novel human hepatocyte transcription factor, hB1F, which binds and activates enhancer II of hepatitis B virus.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Li M, Xie YH, Kong YY, Wu X, Zhu L, Wang Y", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "reference": [ { "type": "PubMed", "id": "9786908", "url": "https://glygen.org/publication/PubMed/9786908" } ] }, { "title": "Assignment of the fetoprotein transcription factor gene (FTF) to human chromosome band 1q32.11 by in situ hybridization.", "journal": "Cytogenet. Cell Genet.", "date": "1998", "authors": "Galarneau L, Drouin R, B\u00e9langer L", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "reference": [ { "type": "PubMed", "id": "9858833", "url": "https://glygen.org/publication/PubMed/9858833" } ] } ], "pathway": [ { "id": "hsa:2494", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2494", "resource": "KEGG Pathway" }, { "id": "R-HSA-9018519", "name": "Estrogen-dependent gene expression", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519", "resource": "Reactome", "description": "Estrogen-dependent gene expression" } ], "orthologs": [ { "uniprot_canonical_ac": "P45448-1", "protein_name": "Nuclear receptor subfamily 5 group A member 2", "gene_name": "Nr5a2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSASLDTGDFQEFLKHGLTAIASAPGSETRHSPKREEQLREKRAGLPDRHRRPIPARSRLVMLPKVETEAPGLVRSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNQKRYTCIENQNCQIDKTQRKRCPYCRFKKCIDVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTSAIQNIHSASKGLPLSHVALPPTDYDRSPFVTSPISMTMPPHSSLHGYQPYGHFPSRAIKSEYPDPYSSSPESMMGYSYMDGYQTNSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQSNRNRQEKLSAFGLLCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVAHGKEGTIFLVTGEHVDYSTIISHTEVAFNNLLSLAQELVVRLRSLQFDQREFVCLKFLVLFSSDVKNLENLQLVEGVQEQVNAALLDYTVCNYPQQTEKFGQLLLRLPEIRAISKQAEDYLYYKHVNGDVPYNNLLIEMLHAKRA", "length": 560 }, "evidence": [ { "id": "45916569", "url": "http://www.informatics.jax.org/homology/45916569", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9QWM1-1", "protein_name": "Nuclear receptor subfamily 5 group A member 2", "gene_name": "Nr5a2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSASSITGDFQDFLKHGLPAIAPAPGSETPHSPKLEEKHREKRAGLPDRHRRPIPARSRLVMLPKVETEASGLVRSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNQKRYTCIENQNCQIDKTQRKRCPYCRFKKCIDVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTSAIQNIHSASKGLPLSHVALPPTDYDRSPFVTSPISMTMPPHGSLHGYQPYGHFPNRAIKSEYPDPYSSSPESMMGYSYMDGYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQNNRNRQEKLSAFGLLCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVAHGKEGTIFLVTGEHVDYSSIISNTEVAFNNLLSLAQELVVRLRSLQFDQREFVCLKFLVLFSSDVKNLENFQLVEGVQEQVNAALLDYTLCNYPQQTEKFGQLLLRLPEIRAISKQAEDYLYYKHVNGDVPYNNLLIEMLHAKRA", "length": 560 }, "evidence": [ { "id": "45916569", "url": "http://www.informatics.jax.org/homology/45916569", "database": "MGI" }, { "id": "O00482", "url": "https://omabrowser.org/oma/group/O00482/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 13, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 16, "go_terms": [ { "name": "calcineurin-mediated signaling", "id": "GO:0097720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097720", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "homeostatic process", "id": "GO:0042592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042592", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "positive regulation of viral genome replication", "id": "GO:0045070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045070", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "pancreas morphogenesis", "id": "GO:0061113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061113", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" }, { "name": "acinar cell differentiation", "id": "GO:0090425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090425", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 332, "end_pos": 334, "annotation": "n_glycosylation_sequon" }, { "start_pos": 75, "end_pos": 77, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Sumoylated by SUMO1 at Lys-270 during the hepatic acute phase response, leading to promote interaction with GPS2 and prevent N-Cor corepressor complex dissociation.", "evidence": [ { "database": "UniProtKB", "id": "O00482", "url": "https://www.uniprot.org/uniprot/O00482" }, { "database": "PubMed", "id": "20159957", "url": "https://glygen.org/publication/PubMed/20159957" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 137, 439 ], "glycation_sites": [], "phosphorylation_sites": [ 510 ], "sequon_annotation_sites": [ { "start_pos": 332, "end_pos": 334 }, { "start_pos": 75, "end_pos": 77 } ] }, "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 }, { "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": 3 }, { "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": 139 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }