{ "uniprot_canonical_ac": "P10914-1", "uniprot_ac": "P10914", "uniprot_id": "IRF1_HUMAN", "mass": { "chemical_mass": 36502.0, "monoisotopic_mass": 36502.0 }, "refseq": { "ac": "NP_002189", "name": "interferon regulatory factor 1 isoform 1", "summary": "The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189" }, "gene_names": [ { "name": "IRF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10914", "id": "P10914" }, { "name": "IMD117; IRF-1; MAR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189", "id": "NP_002189" }, { "name": "IRF-1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10914", "id": "P10914" }, { "name": "IRF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189", "id": "NP_002189" } ], "protein_names": [ { "name": "Interferon regulatory factor 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10914" }, { "name": "IRF-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10914" }, { "name": "interferon regulatory factor 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189", "id": "NP_002189" } ], "function": [ { "annotation": "A robust gene prognostic index composed of GZMB, IRF1, and TP63 can stratify the risk of two metastatic urothelial carcinoma cohorts based on immune checkpoint blockade therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_002189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189" }, { "database": "PubMed", "id": "37247083", "url": "https://glygen.org/publication/PubMed/37247083" } ] }, { "annotation": "CSNK2B modulates IRF1 binding to functional DNA elements and promotes basal and agonist-induced antiviral signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_002189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189" }, { "database": "PubMed", "id": "37094077", "url": "https://glygen.org/publication/PubMed/37094077" } ] }, { "annotation": "IRF1 regulates self-renewal and stress responsiveness to support hematopoietic stem cell maintenance.", "evidence": [ { "database": "RefSeq", "id": "NP_002189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189" }, { "database": "PubMed", "id": "37889967", "url": "https://glygen.org/publication/PubMed/37889967" } ] }, { "annotation": "IRF1 suppresses colon cancer proliferation by reducing SPI1-mediated transcriptional activation of GPX4 and promoting ferroptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_002189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189" }, { "database": "PubMed", "id": "37517591", "url": "https://glygen.org/publication/PubMed/37517591" } ] }, { "annotation": "SPOP targets the immune transcription factor IRF1 for proteasomal degradation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189" }, { "database": "PubMed", "id": "37622993", "url": "https://glygen.org/publication/PubMed/37622993" } ] }, { "annotation": "The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_002189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002189" } ] }, { "annotation": "Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:22367195, PubMed:32385160). Regulates transcription of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:22367195). Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:21389130, PubMed:22367195). Competes with the transcriptional repressor ZBED2 for binding to a common consensus sequence in gene promoters (PubMed:32385160). Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, RIGI, TNFSF10/TRAIL, ZBP1, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as GBP2, GBP5 and NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA; metabolic enzymes, such as ACOD1/IRG1 (PubMed:15226432, PubMed:15509808, PubMed:17516545, PubMed:17942705, PubMed:18497060, PubMed:19404407, PubMed:19851330, PubMed:22367195). Represses genes involved in anti-proliferative response, such as BIRC5/survivin, CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such as FOXP3, IL4, ANXA2 and TLR4 (PubMed:18641303, PubMed:22200613). Stimulates p53/TP53-dependent transcription through enhanced recruitment of EP300 leading to increased acetylation of p53/TP53 (PubMed:15509808, PubMed:18084608). Plays an important role in immune response directly affecting NK maturation and activity, macrophage production of IL12, Th1 development and maturation of CD8+ T-cells (PubMed:11244049, PubMed:11846971, PubMed:11846974, PubMed:16932750). Also implicated in the differentiation and maturation of dendritic cells and in the suppression of regulatory T (Treg) cells development (PubMed:11244049, PubMed:11846971, PubMed:11846974, PubMed:16932750). Acts as a tumor suppressor and plays a role not only in antagonism of tumor cell growth but also in stimulating an immune response against tumor cells (PubMed:20049431).", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914#function" }, { "database": "PubMed", "id": "17942705", "url": "https://glygen.org/publication/PubMed/17942705" }, { "database": "PubMed", "id": "18084608", "url": "https://glygen.org/publication/PubMed/18084608" }, { "database": "PubMed", "id": "18497060", "url": "https://glygen.org/publication/PubMed/18497060" }, { "database": "PubMed", "id": "17516545", "url": "https://glygen.org/publication/PubMed/17516545" }, { "database": "PubMed", "id": "19404407", "url": "https://glygen.org/publication/PubMed/19404407" }, { "database": "PubMed", "id": "22200613", "url": "https://glygen.org/publication/PubMed/22200613" }, { "database": "PubMed", "id": "18641303", "url": "https://glygen.org/publication/PubMed/18641303" }, { "database": "PubMed", "id": "19851330", "url": "https://glygen.org/publication/PubMed/19851330" }, { "database": "PubMed", "id": "22367195", "url": "https://glygen.org/publication/PubMed/22367195" }, { "database": "PubMed", "id": "15509808", "url": "https://glygen.org/publication/PubMed/15509808" }, { "database": "PubMed", "id": "11846974", "url": "https://glygen.org/publication/PubMed/11846974" }, { "database": "PubMed", "id": "11244049", "url": "https://glygen.org/publication/PubMed/11244049" }, { "database": "PubMed", "id": "32385160", "url": "https://glygen.org/publication/PubMed/32385160" }, { "database": "PubMed", "id": "16932750", "url": "https://glygen.org/publication/PubMed/16932750" }, { "database": "PubMed", "id": "15226432", "url": "https://glygen.org/publication/PubMed/15226432" }, { "database": "PubMed", "id": "11846971", "url": "https://glygen.org/publication/PubMed/11846971" }, { "database": "PubMed", "id": "21389130", "url": "https://glygen.org/publication/PubMed/21389130" }, { "database": "PubMed", "id": "20049431", "url": "https://glygen.org/publication/PubMed/20049431" } ] } ], "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" } ], "evidence": [ { "id": "613659", "database": "MIM", "url": "https://www.omim.org/entry/613659" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 275, "end_pos": 275, "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation. Partial inhibition of acetylation and activity. Abolishes sumoylation, diminished ubiquitination, higher resistance to degradation, and increased apoptotic activity; when associated with R-299.", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" }, { "database": "PubMed", "id": "17942705", "url": "https://glygen.org/publication/PubMed/17942705" } ] }, { "start_pos": 299, "end_pos": 299, "sequence_org": "K", "sequence_mut": "R", "comment": "Large loss of sumoylation. Abolishes sumoylation, diminished ubiquitination, higher resistance to degradation, and increased apoptotic activity; when associated with R-275.", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" }, { "database": "PubMed", "id": "17942705", "url": "https://glygen.org/publication/PubMed/17942705" } ] }, { "start_pos": 78, "end_pos": 78, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of acetylation. Partial loss of DNA-binding and transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" }, { "database": "PubMed", "id": "22367195", "url": "https://glygen.org/publication/PubMed/22367195" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "83.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "86.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "86.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125347" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10914", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10914" } ], "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": "P10914", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10914" } ], "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", 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"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": "" 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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": "P10914", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10914" } ], "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 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"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": "P10914", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10914" } ], "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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"ENSP00000505153.1", "url": "https://www.ensembl.org/id/ENSP00000505153.1" } ] } }, { "isoform_ac": "A0A7P0T8P0-1", "url": "", "sequence": { "sequence": "LLEQSEWQPTNVDGKGYLLNEPGVQPTSVYGDFSCKEEPEIDSPGDLKNMDATWLDSLLTPVRLPSIQAIPCAP", "length": 74, "header": "tr|A0A7P0T8P0-1|A0A7P0T8P0_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132484497, "end_pos": 132483954, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681336.1", "url": "https://www.ensembl.org/id/ENST00000681336.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505242.1", "url": "https://www.ensembl.org/id/ENSP00000505242.1" } ] } }, { "isoform_ac": "A0A7P0T9Q9-1", "url": "", "sequence": { "sequence": "XRKSKSSRDAKSKAKRKQLHSA", "length": 22, "header": "tr|A0A7P0T9Q9-1|A0A7P0T9Q9_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=4 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132486844, "end_pos": 132486627, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681749.1", "url": "https://www.ensembl.org/id/ENST00000681749.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505791.1", "url": "https://www.ensembl.org/id/ENSP00000505791.1" } ] } }, { "isoform_ac": "A0A7P0T9W2-1", "url": "", "sequence": { "sequence": "SCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPGELVQVWQETPQLLEQSEWQPTNVDGKGYLLNEPGVQPTSVYGDFSCKEEPEIDSPGGDIGLSLQRVFTDLKNMDATWLDSLLTPVRLPSIQAIPCAP", "length": 141, "header": "tr|A0A7P0T9W2-1|IRF1_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132486686, "end_pos": 132483954, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680562.1", "url": "https://www.ensembl.org/id/ENST00000680562.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505853.1", "url": "https://www.ensembl.org/id/ENSP00000505853.1" } ] } }, { "isoform_ac": "A0A7P0TAD7-1", "url": "", "sequence": { "sequence": "SCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPALSPTGTSQWKLCRTAPVICTTSRCHPCPPPLKLQQMRMRKGNYLRTS", "length": 91, "header": "tr|A0A7P0TAD7-1|A0A7P0TAD7_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=4 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132486686, "end_pos": 132485672, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681595.1", "url": "https://www.ensembl.org/id/ENST00000681595.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506023.1", "url": "https://www.ensembl.org/id/ENSP00000506023.1" } ] } }, { "isoform_ac": "A0A7P0TAJ7-1", "url": "", "sequence": { "sequence": "LLEQSEWQPTNVDGKGYLLNEPGVQPTSVYGDFSWDIGLSLQRVFTDLKNMDATWLDSLLTPVRLPSIQAIPCAP", "length": 75, "header": "tr|A0A7P0TAJ7-1|A0A7P0TAJ7_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132484497, "end_pos": 132483954, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681240.1", "url": "https://www.ensembl.org/id/ENST00000681240.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506034.1", "url": "https://www.ensembl.org/id/ENSP00000506034.1" } ] } }, { "isoform_ac": "A0A7P0TAL6-1", "url": "", "sequence": { "sequence": "MPITRMRMRPWLEMQINSNQIPGLIWINKEEMIFQIPWKHAAKHGWDINKDACLFRSWAIHTGRYKAGEKEPDPKTWKANFRCAMNSLPDIEEVKDQSRNKGSSAVRVYRMLPPLTKNQRKERKSKSSRDAKSKAKRKSCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPALSPCAVSSTLPDWHIPVEVVPDSTSDLYNFQVSPMPSTSEGDIGLSLQRVFTDLKNMDATWLDSLLTPVRLPSIQAIPCAP", "length": 263, "header": "tr|A0A7P0TAL6-1|IRF1_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132489478, "end_pos": 132483954, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680139.1", "url": "https://www.ensembl.org/id/ENST00000680139.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506148.1", "url": "https://www.ensembl.org/id/ENSP00000506148.1" } ] } }, { "isoform_ac": "A0A7P0TAS4-1", "url": "", "sequence": { "sequence": "XRYKAGEKEPDPKTWKANFRCAMNSLPDIEEVKDQSRNKGSSAVRVYRMLPPLTKNQRKG", "length": 60, "header": "tr|A0A7P0TAS4-1|A0A7P0TAS4_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132487130, "end_pos": 132486866, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679633.1", "url": "https://www.ensembl.org/id/ENST00000679633.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506263.1", "url": "https://www.ensembl.org/id/ENSP00000506263.1" } ] } }, { "isoform_ac": "A0A7P0TAS9-1", "url": "", "sequence": { "sequence": "XRKSKSSRDAKSKAKRKLHSA", "length": 21, "header": "tr|A0A7P0TAS9-1|A0A7P0TAS9_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=4 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132486844, "end_pos": 132486627, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680237.1", "url": "https://www.ensembl.org/id/ENST00000680237.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506317.1", "url": "https://www.ensembl.org/id/ENSP00000506317.1" } ] } }, { "isoform_ac": "A0A7P0TAU2-1", "url": "", "sequence": { "sequence": "MIFQIPWKHAAKHGWDINKDACLFRSWAIHT", "length": 31, "header": "tr|A0A7P0TAU2-1|A0A7P0TAU2_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132488019, "end_pos": 132487927, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680352.1", "url": "https://www.ensembl.org/id/ENST00000680352.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506176.1", "url": "https://www.ensembl.org/id/ENSP00000506176.1" } ] } }, { "isoform_ac": "A0A7P0TAY3-1", "url": "", "sequence": { "sequence": "XRYKAGEKEPDPKTWKANFRCAMNSLPDIEEVKDQSRNKGSSAVRVYRMLPPLTKNQRKESRSPAEMLRARPRGSHVGIPALIPSLMDSAAPLCLMTTAATQFQATCRTWRWSRP", "length": 115, "header": "tr|A0A7P0TAY3-1|A0A7P0TAY3_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132487130, "end_pos": 132486565, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681458.1", "url": "https://www.ensembl.org/id/ENST00000681458.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506322.1", "url": "https://www.ensembl.org/id/ENSP00000506322.1" } ] } }, { "isoform_ac": "A0A7P0TAZ9-1", "url": "", "sequence": { "sequence": "MPITRMRMRPWLEMQINSNQIPGLIWINK", "length": 29, "header": "tr|A0A7P0TAZ9-1|IRF1_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132489478, "end_pos": 132489392, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679440.1", "url": "https://www.ensembl.org/id/ENST00000679440.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506401.1", "url": "https://www.ensembl.org/id/ENSP00000506401.1" } ] } }, { "isoform_ac": "A0A7P0TBA1-1", "url": "", "sequence": { "sequence": "SCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPGELVQVWQETPQGILG", "length": 59, "header": "tr|A0A7P0TBA1-1|A0A7P0TBA1_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=4 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132486686, "end_pos": 132484064, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681694.1", "url": "https://www.ensembl.org/id/ENST00000681694.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506552.1", "url": "https://www.ensembl.org/id/ENSP00000506552.1" } ] } }, { "isoform_ac": "A0A7P0TBL0-1", "url": "", "sequence": { "sequence": "SCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPGELVQVWQETPQLQQMRMRKGNYLRTS", "length": 70, "header": "tr|A0A7P0TBL0-1|IRF1_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132486686, "end_pos": 132485672, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681715.1", "url": "https://www.ensembl.org/id/ENST00000681715.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506545.1", "url": "https://www.ensembl.org/id/ENSP00000506545.1" } ] } }, { "isoform_ac": "A0A7P0Z474-1", "url": "", "sequence": { "sequence": "SCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPGELVQVWQETPQHCRHVLSAALSPTGTSQWKLCRTAPVICTTSRCHPCPPPLKLQQMRMRKGNYLRTS", "length": 111, "header": "tr|A0A7P0Z474-1|IRF1_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132486686, "end_pos": 132485672, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679743.1", "url": "https://www.ensembl.org/id/ENST00000679743.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505257.1", "url": "https://www.ensembl.org/id/ENSP00000505257.1" } ] } }, { "isoform_ac": "A0A7P0Z4G2-1", "url": "", "sequence": { "sequence": "XTTDEDEEGKLPEDIMKCTSASYLRL", "length": 26, "header": "tr|A0A7P0Z4G2-1|A0A7P0Z4G2_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=4 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132485716, "end_pos": 132484612, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679860.1", "url": "https://www.ensembl.org/id/ENST00000679860.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505900.1", "url": "https://www.ensembl.org/id/ENSP00000505900.1" } ] } }, { "isoform_ac": "B4DQF0-1", "url": "", "sequence": { "sequence": "MNSLPDIEEVKDQSRNKGSSAVRVYRMLPPLTKNQRKERKSKSSRDAKSKAKRKSCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPGYKLWHLQKTRKVND", "length": 112, "header": "tr|B4DQF0-1|B4DQF0_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132487065, "end_pos": 132449623, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679921.1", "url": "https://www.ensembl.org/id/ENST00000679921.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505766.1", "url": "https://www.ensembl.org/id/ENSP00000505766.1" } ] } }, { "isoform_ac": "C9J9C5-1", "url": "", "sequence": { "sequence": "MPITRMRMRPWLEMQINSNQIPGLIWINKEEMIFQIPWKHAAKHGWDINKDACLFRSWAIHTDIEEVKDQSRNKGSSAVRVYRMLPPLTKNQRKERKSKSSRDAKSKAKRKSCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPALSPCAVSSTLPDWHIPVEVVPDSTSDLYNFQVSP", "length": 189, "header": "tr|C9J9C5-1|C9J9C5_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=2 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132489478, "end_pos": 132486270, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437654.6", "url": "https://www.ensembl.org/id/ENST00000437654.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000405655.2", "url": "https://www.ensembl.org/id/ENSP00000405655.2" } ] } }, { "isoform_ac": "C9JD95-1", "url": "", "sequence": { "sequence": "MPITRMRMRPWLEMQINSNQIPGLIWINKEEMIFQIPWKHAAKHGWDINKDACLFRSWAIHTGRYKAGEKEPDPKTWKANFRCAMNSLPDIEEVKDQSRNKGSSAVRVYRMLPPLTKNQRKERKSKSSRDAKSKAKRKSCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPALSPCAVSSTL", "length": 192, "header": "tr|C9JD95-1|C9JD95_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132489478, "end_pos": 132486342, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458069.5", "url": "https://www.ensembl.org/id/ENST00000458069.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396318.1", "url": "https://www.ensembl.org/id/ENSP00000396318.1" } ] } }, { "isoform_ac": "F8WCM1-1", "url": "", "sequence": { "sequence": "MPITRMRMRPWLEMQINSNQIPGLIWINKADTKQGKRSQIPRRGRPTFAVP", "length": 51, "header": "tr|F8WCM1-1|F8WCM1_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132489478, "end_pos": 132487065, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439555.2", "url": "https://www.ensembl.org/id/ENST00000439555.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000392455.1", "url": "https://www.ensembl.org/id/ENSP00000392455.1" } ] } }, { "isoform_ac": "P10914-1", "url": "", "sequence": { "sequence": "MPITRMRMRPWLEMQINSNQIPGLIWINKEEMIFQIPWKHAAKHGWDINKDACLFRSWAIHTGRYKAGEKEPDPKTWKANFRCAMNSLPDIEEVKDQSRNKGSSAVRVYRMLPPLTKNQRKERKSKSSRDAKSKAKRKSCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPALSPCAVSSTLPDWHIPVEVVPDSTSDLYNFQVSPMPSTSEATTDEDEEGKLPEDIMKLLEQSEWQPTNVDGKGYLLNEPGVQPTSVYGDFSCKEEPEIDSPGGDIGLSLQRVFTDLKNMDATWLDSLLTPVRLPSIQAIPCAP", "length": 325, "header": "sp|P10914-1|IRF1_HUMAN Isoform 1 of Interferon 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"https://www.ensembl.org/id/ENST00000476613.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000473661.1", "url": "https://www.ensembl.org/id/ENSP00000473661.1" } ] } }, { "isoform_ac": "V9P921-1", "url": "", "sequence": { "sequence": "MPITRMRMRPWLEMQINSNQIPGLIWINKEEMIFQIPWKHAAKHGWDINKDACLFRSWAIHTGRYKAGEKEPDPKTWKANFRCAMNSLPDIEEVKDQSRNKGSSAVRVYRMLPPLTKNQRKERKSKSSRDAKSKAKRKSCGDSSPDTFSDGLSSSTLPDDHSSYTVPGYMQDLEVEQALTPALGAVGVAANKRGWEGVPTQ", "length": 201, "header": "tr|V9P921-1|IRF1_HUMAN Computationally mapped isoform of Interferon regulatory factor 1 OS=Homo sapiens OX=9606 GN=IRF1 PE=1 SV=1 CANONICAL=P10914-1" }, "locus": { "chromosome": "5", "start_pos": 132489478, "end_pos": 132484439, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613424.5", "url": "https://www.ensembl.org/id/ENST00000613424.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000480887.1", "url": "https://www.ensembl.org/id/ENSP00000480887.1" } ] } }, { "isoform_ac": "X5D3F6-1", 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"https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "regulation of CD8-positive, alpha-beta T cell proliferation", "id": "GO:2000564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000564", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "regulation of MyD88-dependent toll-like receptor signaling pathway", "id": "GO:0034124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034124", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "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": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "type II interferon-mediated signaling pathway", "id": "GO:0060333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060333", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "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": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "negative regulation of regulatory T cell differentiation", "id": "GO:0045590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045590", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "regulation of adaptive immune response", "id": "GO:0002819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002819", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" } ], "pmid": "" }, { "name": "cytosol", "id": 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Sumolyated by UBE2I/UBC9 and SUMO1 (By similarity). Inactivates the tumor suppressor activity (PubMed:17942705). Elevated levels in tumor cells (PubMed:17942705). Major site is Lys-275 (PubMed:17942705). Sumoylation is enhanced by PIAS3 (By similarity). Desumoylated by SENP1 in tumor cells and appears to compete with ubiquitination on C-terminal sites (PubMed:17942705).", "evidence": [ { "database": "UniProtKB", "id": "P10914", "url": "https://www.uniprot.org/uniprot/P10914" }, { "database": "PubMed", "id": "17942705", "url": "https://glygen.org/publication/PubMed/17942705" } ] }, { "annotation": "Ubiquitinated. 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