{ "uniprot_canonical_ac": "P11474-1", "uniprot_ac": "P11474", "uniprot_id": "ERR1_HUMAN", "mass": { "chemical_mass": 45510.0, "monoisotopic_mass": 45510.0 }, "refseq": { "ac": "NP_001269379", "name": "steroid hormone receptor ERR1 isoform 1", "summary": "The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379" }, "gene_names": [ { "name": "ESRRA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11474", "id": "P11474" }, { "name": "ERR1; ERRa; ERRalpha; ESRL1; NR3B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379", "id": "NP_001269379" }, { "name": "ERR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11474", "id": "P11474" }, { "name": "ESRL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11474", "id": "P11474" }, { "name": "ESRRA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379", "id": "NP_001269379" }, { "name": "NR3B1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11474", "id": "P11474" } ], "protein_names": [ { "name": "Steroid hormone receptor ERR1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11474" }, { "name": "ERR-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11474" }, { "name": "Estrogen receptor-like 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11474" }, { "name": "Estrogen-related receptor alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11474" }, { "name": "Nuclear receptor subfamily 3 group B member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11474" }, { "name": "estrogen receptor-like 1; steroid hormone receptor ERR1; estrogen-related nuclear receptor alpha; ERR-alpha; nuclear receptor subfamily 3 group B member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379", "id": "NP_001269379" }, { "name": "steroid hormone receptor ERR1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379", "id": "NP_001269379" } ], "function": [ { "annotation": "Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474#function" }, { "database": "PubMed", "id": "17676930", "url": "https://glygen.org/publication/PubMed/17676930" }, { "database": "PubMed", "id": "16150865", "url": "https://glygen.org/publication/PubMed/16150865" }, { "database": "PubMed", "id": "18063693", "url": "https://glygen.org/publication/PubMed/18063693" }, { "database": "PubMed", "id": "12522104", "url": "https://glygen.org/publication/PubMed/12522104" }, { "database": "PubMed", "id": "23836911", "url": "https://glygen.org/publication/PubMed/23836911" }, { "database": "PubMed", "id": "9271417", "url": "https://glygen.org/publication/PubMed/9271417" } ] }, { "annotation": "ERRalpha Up-Regulates Invadopodia Formation by Targeting HMGCS1 to Promote Endometrial Cancer Invasion and Metastasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379" }, { "database": "PubMed", "id": "36835419", "url": "https://glygen.org/publication/PubMed/36835419" } ] }, { "annotation": "Estrogen-Related Receptor Alpha (ERRalpha) Promotes Cancer Stem Cell-Like Characteristics in Breast Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001269379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379" }, { "database": "PubMed", "id": "37584854", "url": "https://glygen.org/publication/PubMed/37584854" } ] }, { "annotation": "Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001269379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379" }, { "database": "PubMed", "id": "37347142", "url": "https://glygen.org/publication/PubMed/37347142" } ] }, { "annotation": "Multifaceted Transcriptional Network of Estrogen-Related Receptor Alpha in Health and Disease. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379" }, { "database": "PubMed", "id": "36901694", "url": "https://glygen.org/publication/PubMed/36901694" } ] }, { "annotation": "The Role of the Estrogen-Related Receptor Alpha (ERRa) in Hypoxia and Its Implications for Cancer Metabolism. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379" }, { "database": "PubMed", "id": "37175690", "url": "https://glygen.org/publication/PubMed/37175690" } ] }, { "annotation": "The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019].", "evidence": [ { "database": "RefSeq", "id": "NP_001269379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269379" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 118, "end_pos": 118, "sequence_org": "S", "sequence_mut": "A", "comment": "Binds DNA as a monomer or as a dimer as for wild type. No effect on interaction with PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "16150865", "url": "https://glygen.org/publication/PubMed/16150865" } ] }, { "start_pos": 124, "end_pos": 124, "sequence_org": "T", "sequence_mut": "A", "comment": "Binds DNA predominantly as a monomer. Loss of interaction with PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "16150865", "url": "https://glygen.org/publication/PubMed/16150865" } ] }, { "start_pos": 129, "end_pos": 129, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes acetylation by PCAF/KAT2B; when associated with R-138, R-160 and R-162.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "20484414", "url": "https://glygen.org/publication/PubMed/20484414" } ] }, { "start_pos": 138, "end_pos": 138, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes acetylation by PCAF/KAT2B; when associated with R-129, R-160 and R-162.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "20484414", "url": "https://glygen.org/publication/PubMed/20484414" } ] }, { "start_pos": 14, "end_pos": 14, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation. Complete loss of sumoylation; when associated with R-403.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "17676930", "url": "https://glygen.org/publication/PubMed/17676930" }, { "database": "PubMed", "id": "18063693", "url": "https://glygen.org/publication/PubMed/18063693" } ] }, { "start_pos": 160, "end_pos": 160, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes acetylation by PCAF/KAT2B; when associated with R-129, R-138 and R-162.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "20484414", "url": "https://glygen.org/publication/PubMed/20484414" } ] }, { "start_pos": 162, "end_pos": 162, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes acetylation by PCAF/KAT2B; when associated with R-129, R-138 and R-160.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "20484414", "url": "https://glygen.org/publication/PubMed/20484414" } ] }, { "start_pos": 19, "end_pos": 19, "sequence_org": "S", "sequence_mut": "A", "comment": "50% loss of phosphorylation but represses transactivation activity in the absence of coactivator. Almost complete loss of phosphorylation and 2-fold loss of repression of transactivation activity in response to coactivator; when associated with A-22.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "17676930", "url": "https://glygen.org/publication/PubMed/17676930" }, { "database": "PubMed", "id": "18063693", "url": "https://glygen.org/publication/PubMed/18063693" } ] }, { "start_pos": 19, "end_pos": 19, "sequence_org": "S", "sequence_mut": "D", "comment": "Represses transactivation activity in response to coactivator as for wild type; when associated with D-22.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "17676930", "url": "https://glygen.org/publication/PubMed/17676930" }, { "database": "PubMed", "id": "18063693", "url": "https://glygen.org/publication/PubMed/18063693" } ] }, { "start_pos": 22, "end_pos": 22, "sequence_org": "S", "sequence_mut": "A", "comment": "15% loss of phosphorylation but little transactivating activity. Almost complete loss of phosphorylation and 2-fold loss of repression of transactivation activity in the presence of coactivator; when associated with A-19.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "17676930", "url": "https://glygen.org/publication/PubMed/17676930" }, { "database": "PubMed", "id": "18063693", "url": "https://glygen.org/publication/PubMed/18063693" } ] }, { "start_pos": 22, "end_pos": 22, "sequence_org": "S", "sequence_mut": "D", "comment": "Represses transactivation activity in response to coactivator as for wild type; when associated with D-19.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "17676930", "url": "https://glygen.org/publication/PubMed/17676930" }, { "database": "PubMed", "id": "18063693", "url": "https://glygen.org/publication/PubMed/18063693" } ] }, { "start_pos": 258, "end_pos": 262, "sequence_org": "MSVLQ", "sequence_mut": "VSVLE", "comment": "Almost complete loss of interaction to L2 or to L3 of PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "18441008", "url": "https://glygen.org/publication/PubMed/18441008" } ] }, { "start_pos": 259, "end_pos": 259, "sequence_org": "S", "sequence_mut": "H", "comment": "Little effect on binding L2 of PPARGC1A. Greatly reduced binding to L3 of PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "18441008", "url": "https://glygen.org/publication/PubMed/18441008" } ] }, { "start_pos": 315, "end_pos": 315, "sequence_org": "R", "sequence_mut": "A", "comment": "Almost complete loss of interaction to L2 or to L3 of PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "18441008", "url": "https://glygen.org/publication/PubMed/18441008" } ] }, { "start_pos": 338, "end_pos": 338, "sequence_org": "D", "sequence_mut": "A", "comment": "Almost complete loss of interaction to L2 or to L3 of PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "18441008", "url": "https://glygen.org/publication/PubMed/18441008" } ] }, { "start_pos": 341, "end_pos": 341, "sequence_org": "H", "sequence_mut": "A", "comment": "Little effect on binding L3 of PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "18441008", "url": "https://glygen.org/publication/PubMed/18441008" } ] }, { "start_pos": 343, "end_pos": 343, "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on binding L3 of PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "18441008", "url": "https://glygen.org/publication/PubMed/18441008" } ] }, { "start_pos": 403, "end_pos": 403, "sequence_org": "K", "sequence_mut": "R", "comment": "Decrease in sumoylation. No effect on transcriptional activity. Complete loss of sumoylation; when associated with R-14.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "17676930", "url": "https://glygen.org/publication/PubMed/17676930" }, { "database": "PubMed", "id": "18063693", "url": "https://glygen.org/publication/PubMed/18063693" } ] }, { "start_pos": 413, "end_pos": 413, "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of coactivation activity; when associated with A-418. Loss of increased response to coactivator; when associated with A-19 and A-418.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "17676930", "url": "https://glygen.org/publication/PubMed/17676930" } ] }, { "start_pos": 418, "end_pos": 418, "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of coactivation activity; when associated with A-413. Loss of increased response to coactivator activity; when associated with A-19 and A-413.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "17676930", "url": "https://glygen.org/publication/PubMed/17676930" } ] }, { "start_pos": 421, "end_pos": 423, "sequence_org": "MMD", "sequence_mut": "", "comment": "Greatly reduced interaction with L3 motif of PPARGC1A. Less effect on binding to L2 motif of PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" }, { "database": "PubMed", "id": "18441008", "url": "https://glygen.org/publication/PubMed/18441008" } ] }, { "start_pos": 423, "end_pos": 423, "sequence_org": "D", "sequence_mut": "A", "comment": "Little effect on binding L3 of PPARGC1A.", "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "85.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "74.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "64.04", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11474", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11474" } ], "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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11474", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11474" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P11474", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11474" } ], "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 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"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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11474" } ], "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": 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"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 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P11474", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11474" } ], "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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11474", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11474" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474" } ], "common_name": "Human" } ], "gene": [ { "name": "ESRRA", "url": "https://www.uniprot.org/uniprot/P11474", "locus": { "chromosome": "11", "start_pos": 64316743, "end_pos": 64305497, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000173153", "url": "https://www.ensembl.org/id/ENSG00000173153" } ] } } ], "crossref": [ { "id": "ENSG00000173153", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173153", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd06946", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06946", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd07170", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07170", "database": 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"Protein" ] }, { "id": "F5GWT5", "url": "https://www.uniprot.org/uniprot/F5GWT5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GWT5-1", "url": "https://www.uniprot.org/uniprot/F5GWT5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H0E9", "url": "https://www.uniprot.org/uniprot/F5H0E9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H0E9-1", "url": "https://www.uniprot.org/uniprot/F5H0E9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGT3", "url": "https://www.uniprot.org/uniprot/H0YGT3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YGT3-1", "url": "https://www.uniprot.org/uniprot/H0YGT3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11474", "url": "https://www.uniprot.org/uniprot/P11474", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11474-1", "url": "https://www.uniprot.org/uniprot/P11474-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11474-2", "url": "https://www.uniprot.org/uniprot/P11474-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSQVVGIEPLYIKAEPASPDSPKGSSETETEPPVALAPGPAPTRCLPGHKEEEDGEGAGPGEQGGGKLVLSSLPKRLCLVCGDVASGYHYGVASCEACKAFFKRTIQGSIEYSCPASNECEITKRRRKACQACRFTKCLRVGMLKEGVRLDRVRGGRQKYKRRPEVDPLPFPGPFPAGPLAVAGGPRKTAAPVNALVSHLLVVEPEKLYAMPDPAGPDGHLPAVATLCDLFDREIVVTISWAKSIPGFSSLSLSDQMSVLQSVWMEVLVLGVAQRSLPLQDELAFAEDLVLDEEGARAAGLGELGAALLQLVRRLQALRLEREEYVLLKALALANSDSVHIEDAEAVEQLREALHEALLEYEAGRAGPGGGAERRRAGRLLLTLPLLRQTAGKVLAHFYGVKLEGKVPMHKLFLEMLEAMMD", "length": 423, "header": "sp|P11474-1|ERR1_HUMAN Isoform 1 of Steroid hormone receptor ERR1 OS=Homo sapiens OX=9606 GN=ESRRA PE=1 SV=3 CANONICAL=P11474-1" }, "isoforms": [ { "isoform_ac": "A0A6E1WCP9-1", "url": "", "sequence": { "sequence": "MRTAGPTPAVSWRKRSRKRPRCPFVSYKQPAAPPSEGTRRGGAARPEEAAEEGPPAAPGSLRHSGPLGPHACPTALPEPQVTSAMSSQVVGIEPLYIKAEPASPDSPKGSSETETEPPVALAPGPAPTRCLPGHKEEEDGEGAGPGEQGGGKLVLSSLPKRLCLVCGDVASGYHYGVASCEACKAFFKRTIQGSIEYSCPASNECEITKRRRKACQACRFTKCLRVGMLKEGVRLDRVRGGRQKYKRRPEVDPLPFPGPFPAGPLAVAGGPRKTAPVNALVSHLLVVEPEKLYAMPDPAGPDGHLPAVATLCDLFDREIVVTISWAKSIPGFSSLSLSDQMSVLQSVWMEVLVLGVAQRSLPLQDELAFAEDLVLDEEGARAAGLGELGAALLQLVRRLQALRLEREEYVLLKALALANSDSVHIEDAEAVEQLREALHEALLEYEAGRAGPGGGAERRRAGRLLLTLPLLRQTAGKVLAHFYGVKLEGKVPMHKLFLEMLEAMMD", "length": 506, "header": "tr|A0A6E1WCP9-1|ERR1_HUMAN Computationally mapped isoform of Steroid hormone receptor ERR1 OS=Homo sapiens OX=9606 GN=ESRRA PE=1 SV=1 CANONICAL=P11474-1" }, "locus": { "chromosome": "11", "start_pos": 64315963, "end_pos": 64305497, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000406310.6", "url": "https://www.ensembl.org/id/ENST00000406310.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000385971.2", "url": "https://www.ensembl.org/id/ENSP00000385971.2" } ] } }, { "isoform_ac": "F5GWT5-1", "url": "", "sequence": { "sequence": "MSSQVVGIEPLYIKAEPASPDSPKGSSETETEPPVALAPGPAPTRCLPGHKEEEDGEGAGPGEQGGGKLVLSSLPKRLCLVCGDVASGYHYGVASCEACKAFFKRTIQ", "length": 108, "header": "tr|F5GWT5-1|F5GWT5_HUMAN Computationally mapped isoform of Estrogen related receptor alpha OS=Homo sapiens OX=9606 GN=ESRRA PE=1 SV=2 CANONICAL=P11474-1" }, "locus": { "chromosome": "11", "start_pos": 64307503, "end_pos": 64307180, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000468670.2", "url": "https://www.ensembl.org/id/ENST00000468670.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000441970.2", "url": "https://www.ensembl.org/id/ENSP00000441970.2" } ] } }, { "isoform_ac": "F5H0E9-1", "url": "", "sequence": { "sequence": "MLKEGVRLDRVRGGRQKYKRRPEVDPLPFPGPFPAGPLAVAGGPRKTAAPVNALVSHLLVVEPEKLYAMPDPAGPDGHLPAVATLCDLFDREIVVTISWAKSIPGFSSLSLSDQMSVLQSVWMEVLVLGVAQRSLPLQDELAFAEDLVLDEEGARAAGLGEL", "length": 162, "header": "tr|F5H0E9-1|F5H0E9_HUMAN Computationally mapped isoform of Estrogen related receptor alpha OS=Homo sapiens OX=9606 GN=ESRRA PE=1 SV=1 CANONICAL=P11474-1" }, "locus": { "chromosome": "11", "start_pos": 64315173, "end_pos": 64314055, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539594.5", "url": "https://www.ensembl.org/id/ENST00000539594.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439896.1", "url": "https://www.ensembl.org/id/ENSP00000439896.1" } ] } }, { "isoform_ac": "H0YGT3-1", "url": "", "sequence": { "sequence": "XRPEVDPLPFPGPFPAGPLAVAGGPRKTGFSSLSLSDQMSVLQSVWMEVLVLGVAQRSLPLQDELAFAEDLVLDEEGARAAGLGELGAALLQLVRRLQALRLEREEYVLLKALALANSDSVHIEDAEAVEQLREALHEALLEYEAGRAGPGGGAERRRAGRLLLTLPLLRQTAGKVLAHFYGVKLEGKVPMHKLFLEM", "length": 198, "header": "tr|H0YGT3-1|H0YGT3_HUMAN Computationally mapped isoform of Estrogen related receptor alpha OS=Homo sapiens OX=9606 GN=ESRRA PE=1 SV=1 CANONICAL=P11474-1" }, "locus": { "chromosome": "11", "start_pos": 64315946, "end_pos": 64314284, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545035.1", "url": "https://www.ensembl.org/id/ENST00000545035.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000444710.1", "url": "https://www.ensembl.org/id/ENSP00000444710.1" } ] } }, { "isoform_ac": "P11474-1", "url": "", "sequence": { "sequence": "MSSQVVGIEPLYIKAEPASPDSPKGSSETETEPPVALAPGPAPTRCLPGHKEEEDGEGAGPGEQGGGKLVLSSLPKRLCLVCGDVASGYHYGVASCEACKAFFKRTIQGSIEYSCPASNECEITKRRRKACQACRFTKCLRVGMLKEGVRLDRVRGGRQKYKRRPEVDPLPFPGPFPAGPLAVAGGPRKTAAPVNALVSHLLVVEPEKLYAMPDPAGPDGHLPAVATLCDLFDREIVVTISWAKSIPGFSSLSLSDQMSVLQSVWMEVLVLGVAQRSLPLQDELAFAEDLVLDEEGARAAGLGELGAALLQLVRRLQALRLEREEYVLLKALALANSDSVHIEDAEAVEQLREALHEALLEYEAGRAGPGGGAERRRAGRLLLTLPLLRQTAGKVLAHFYGVKLEGKVPMHKLFLEMLEAMMD", "length": 423, "header": "sp|P11474-1|ERR1_HUMAN Isoform 1 of Steroid hormone receptor ERR1 OS=Homo sapiens OX=9606 GN=ESRRA PE=1 SV=3 CANONICAL=P11474-1" }, "locus": { "chromosome": "11", "start_pos": 64315963, "end_pos": 64307180, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000000442.11", "url": "https://www.ensembl.org/id/ENST00000000442.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000000442.6", "url": "https://www.ensembl.org/id/ENSP00000000442.6" } ] } }, { "isoform_ac": "P11474-2", "url": "", "sequence": { "sequence": "MSSQVVGIEPLYIKAEPASPDSPKGSSETETEPPVALAPGPAPTRCLPGHKEEEDGEGAGPGEQGGGKLVLSSLPKRLCLVCGDVASGYHYGVASCEACKAFFKRTIQGSIEYSCPASNECEITKRRRKACQACRFTKCLRVGMLKEGVRLDRVRGGRQKYKRRPEVDPLPFPGPFPAGPLAVAGGPRKTAPVNALVSHLLVVEPEKLYAMPDPAGPDGHLPAVATLCDLFDREIVVTISWAKSIPGFSSLSLSDQMSVLQSVWMEVLVLGVAQRSLPLQDELAFAEDLVLDEEGARAAGLGELGAALLQLVRRLQALRLEREEYVLLKALALANSDSVHIEDAEAVEQLREALHEALLEYEAGRAGPGGGAERRRAGRLLLTLPLLRQTAGKVLAHFYGVKLEGKVPMHKLFLEMLEAMMD", "length": 422, "header": "sp|P11474-2|ERR1_HUMAN Isoform 2 of Steroid hormone receptor ERR1 OS=Homo sapiens OX=9606 GN=ESRRA PE=1 SV=3 CANONICAL=P11474-1" }, "locus": { 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