{ "uniprot_canonical_ac": "P48382-1", "uniprot_ac": "P48382", "uniprot_id": "RFX5_HUMAN", "mass": { "chemical_mass": 65323.0, "monoisotopic_mass": 65323.0 }, "refseq": { "ac": "NP_000440", "name": "DNA-binding protein RFX5 isoform 1", "summary": "A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440" }, "gene_names": [ { "name": "RFX5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P48382", "id": "P48382" }, { "name": "RFX5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440", "id": "NP_000440" } ], "protein_names": [ { "name": "DNA-binding protein RFX5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P48382" }, { "name": "DNA-binding protein RFX5 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440", "id": "NP_000440" }, { "name": "DNA-binding protein RFX5; regulatory factor X 5; regulatory factor X, 5 (influences HLA class II expression)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440", "id": "NP_000440" }, { "name": "Regulatory factor X 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P48382" } ], "function": [ { "annotation": "A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440" } ] }, { "annotation": "Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters.", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382#function" } ] }, { "annotation": "Identification of RFX5 as prognostic biomarker and associated with immune infiltration in stomach adenocarcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440" }, { "database": "PubMed", "id": "36045400", "url": "https://glygen.org/publication/PubMed/36045400" } ] }, { "annotation": "RFX5 promotes the progression of hepatocellular carcinoma through transcriptional activation of KDM4A. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440" }, { "database": "PubMed", "id": "32883983", "url": "https://glygen.org/publication/PubMed/32883983" } ] }, { "annotation": "RFX5 regulates gene expression of the Pcdhalpha cluster.", "evidence": [ { "database": "RefSeq", "id": "NP_000440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440" }, { "database": "PubMed", "id": "32952112", "url": "https://glygen.org/publication/PubMed/32952112" } ] } ], "disease": [ { "disease_id": "DOID:5812", "recommended_name": { "id": "DOID:5812", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5812", "name": "MHC class II deficiency", "description": "A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes." }, "synonyms": [ { "id": "DOID:5812", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5812", "name": "BLSII", "description": "" }, { "id": "DOID:5812", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5812", "name": "SCID due to absent class II HLA antigens", "description": "" }, { "id": "DOID:5812", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5812", "name": "bare lymphocyte syndrome type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "MHC class II deficiency", "description": "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "HLA class 2-negative SCID", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "HLA class 2-negative severe combined immunodeficiency", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "MHC class II deficiency, complementation group B", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "MHC class II expression deficiency", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID due to absent class II HLA antigens", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "immunodeficiency by defective expression of HLA class type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "major histocompatibility complex class II expression deficiency", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II, complementation group B, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II, complementation group C, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II, complementation group D, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BARE lymphocyte syndrome, type II, complementation group E, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLS", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLS 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLS type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLS, type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "BLSII", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group A", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group B", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group C", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group D", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group E", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bls, type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID, HLA Class 2-negative", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID, HLA Class II-negative", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "bare lymphocyte syndrome type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "immunodeficiency by defective expression of HLA class 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "severe combined immunodeficiency, HLA Class II-negative", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "severe combined immunodeficiency, HLA class ii-negative", "description": "" }, { "id": "MIM:209920", "resource": "MIM", "url": "https://www.omim.org/entry/209920", "name": "Bare lymphocyte syndrome 2", "description": "Bare lymphocyte syndrome 2" } ], "evidence": [ { "id": "209920", "database": "MIM", "url": "https://www.omim.org/entry/209920" } ] } ], "snv": [ { "evidence": [ { "id": "P48382", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P48382" }, { "id": "rs1450123301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450123301" }, { "id": "rs1450123301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450123301" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 181, "end_pos": 181, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "1", "chr_pos": "151344209", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K181", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P48382", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P48382" } ], "glycoeffect": [], "start_pos": 204, "end_pos": 204, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "151343827", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A204", "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" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs946314298", "database": "dbSNP", "url": 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complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. 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"https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group A", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group B", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group C", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group D", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bare lymphocyte syndrome, type II, complementation group E", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "Bls, type 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID, HLA Class 2-negative", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "SCID, HLA Class II-negative", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "bare lymphocyte syndrome type II", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "immunodeficiency by defective expression of HLA class 2", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "severe combined immunodeficiency, HLA Class II-negative", "description": "" }, { "id": "MONDO:0008855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008855", "name": "severe combined immunodeficiency, HLA class ii-negative", "description": "" }, { "id": "MIM:209920", "resource": "MIM", "url": "https://www.omim.org/entry/209920", "name": "Bare lymphocyte syndrome 2", "description": "Bare lymphocyte syndrome 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs750176372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750176372" }, { "id": "rs750176372", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750176372" }, { "id": "rs750176372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750176372" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 439, "end_pos": 439, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "1", "chr_pos": "151342720", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S439", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P48382", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P48382" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 612, "end_pos": 612, "subjects_tested": "0", 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"http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143390", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143390" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143390", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143390" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000143390", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143390" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "76.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000143390", "url": 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"" }, { "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", 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"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, 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P48382", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P48382" } ], "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 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"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", 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"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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "common_name": "Human" } ], "gene": [ { "name": "RFX5", "url": "https://www.uniprot.org/uniprot/P48382", "locus": { "chromosome": "1", "start_pos": 151340640, "end_pos": 151347326, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000143390", "url": "https://www.ensembl.org/id/ENSG00000143390" } ] } } ], "crossref": [ { "id": "ENSG00000143390", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000143390", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P48382", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P48382", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "RFX5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFX5", "database": "GeneCards", "categories": [ 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"InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039779", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039779", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040889", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040889", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047009", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047009", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5993", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5993", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "209920", "url": "http://www.omim.org/entry/209920", "database": "MIM", "categories": [ "Other" ] }, { "id": "601863", "url": "http://www.omim.org/entry/601863", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P48382", "url": "https://www.nextprot.org/entry/NX_P48382", "database": "neXtProt", "categories": [ 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"https://www.rcsb.org/structure/2KW3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3V30", "url": "https://www.rcsb.org/structure/3V30", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02257", "url": "http://pfam.xfam.org/family/PF02257", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14621", "url": "http://pfam.xfam.org/family/PF14621", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF18326", "url": "http://pfam.xfam.org/family/PF18326", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P48382", "url": "https://pharos.nih.gov/targets/P48382", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P48382", "url": "http://purl.obolibrary.org/obo/PR_P48382", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_000440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0A0MSM9", "url": "https://www.uniprot.org/uniprot/A0A0A0MSM9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MSM9-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MSM9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MSQ2", "url": "https://www.uniprot.org/uniprot/A0A0A0MSQ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MSQ2-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MSQ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MT34", "url": "https://www.uniprot.org/uniprot/A0A0A0MT34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MT34-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MT34-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z2G0", "url": "https://www.uniprot.org/uniprot/F2Z2G0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F2Z2G0-1", "url": "https://www.uniprot.org/uniprot/F2Z2G0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6R6G4", "url": "https://www.uniprot.org/uniprot/F6R6G4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6R6G4-1", "url": "https://www.uniprot.org/uniprot/F6R6G4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6S3S0", "url": "https://www.uniprot.org/uniprot/F6S3S0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6S3S0-1", "url": "https://www.uniprot.org/uniprot/F6S3S0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6UE82", "url": "https://www.uniprot.org/uniprot/F6UE82", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6UE82-1", "url": "https://www.uniprot.org/uniprot/F6UE82-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6X9D6", "url": "https://www.uniprot.org/uniprot/F6X9D6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6X9D6-1", "url": "https://www.uniprot.org/uniprot/F6X9D6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W689", "url": "https://www.uniprot.org/uniprot/F8W689", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W689-1", "url": "https://www.uniprot.org/uniprot/F8W689-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDU3", "url": "https://www.uniprot.org/uniprot/F8WDU3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDU3-1", "url": "https://www.uniprot.org/uniprot/F8WDU3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WFE4", "url": "https://www.uniprot.org/uniprot/F8WFE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WFE4-1", "url": "https://www.uniprot.org/uniprot/F8WFE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4B4", "url": "https://www.uniprot.org/uniprot/H0Y4B4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y4B4-1", "url": "https://www.uniprot.org/uniprot/H0Y4B4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P48382-1", "url": "https://www.uniprot.org/uniprot/P48382-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P48382-2", "url": "https://www.uniprot.org/uniprot/P48382-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPLARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGALKVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPGRAPPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKAAKQDIEDTASDAKRKRGRPRKKSGGSGERNSTPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAEKGAVLAQGQGDGTVSKGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKEAFPLAKGEVDTAPQGNKDLKEHVLQSSLSQEHKDPKATPP", "length": 616, "header": "sp|P48382-1|RFX5_HUMAN Isoform 1 of DNA-binding protein RFX5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MSM9-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAY", "length": 117, "header": "tr|A0A0A0MSM9-1|A0A0A0MSM9_HUMAN Computationally mapped isoform of Regulatory factor X5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=6 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151344730, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412774.5", "url": "https://www.ensembl.org/id/ENST00000412774.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396810.1", "url": "https://www.ensembl.org/id/ENSP00000396810.1" } ] } }, { "isoform_ac": "A0A0A0MSQ2-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARF", "length": 229, "header": "tr|A0A0A0MSQ2-1|RFX5_HUMAN Computationally mapped isoform of DNA-binding protein RFX5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=6 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151343751, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422595.5", "url": "https://www.ensembl.org/id/ENST00000422595.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399095.1", "url": "https://www.ensembl.org/id/ENSP00000399095.1" } ] } }, { "isoform_ac": "A0A0A0MT34-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTD", "length": 105, "header": "tr|A0A0A0MT34-1|A0A0A0MT34_HUMAN Computationally mapped isoform of Regulatory factor X5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=6 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151344766, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437327.5", "url": "https://www.ensembl.org/id/ENST00000437327.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413153.1", "url": "https://www.ensembl.org/id/ENSP00000413153.1" } ] } }, { "isoform_ac": "F2Z2G0-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGIL", "length": 50, "header": "tr|F2Z2G0-1|F2Z2G0_HUMAN Computationally mapped isoform of Regulatory factor X5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151345928, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444392.5", "url": "https://www.ensembl.org/id/ENST00000444392.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000412900.1", "url": "https://www.ensembl.org/id/ENSP00000412900.1" } ] } }, { "isoform_ac": "F6R6G4-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIR", "length": 165, "header": "tr|F6R6G4-1|RFX5_HUMAN Computationally mapped isoform of DNA-binding protein RFX5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151344257, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458484.5", "url": "https://www.ensembl.org/id/ENST00000458484.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409187.1", "url": "https://www.ensembl.org/id/ENSP00000409187.1" } ] } }, { "isoform_ac": "F6S3S0-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWI", "length": 96, "header": "tr|F6S3S0-1|RFX5_HUMAN Computationally mapped isoform of DNA-binding protein RFX5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151344793, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436271.5", "url": "https://www.ensembl.org/id/ENST00000436271.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390720.1", "url": "https://www.ensembl.org/id/ENSP00000390720.1" } ] } }, { "isoform_ac": "F6UE82-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSE", "length": 184, "header": "tr|F6UE82-1|RFX5_HUMAN Computationally mapped isoform of DNA-binding protein RFX5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151344200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450506.5", "url": "https://www.ensembl.org/id/ENST00000450506.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398666.1", "url": "https://www.ensembl.org/id/ENSP00000398666.1" } ] } }, { "isoform_ac": "F6X9D6-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCES", "length": 123, "header": "tr|F6X9D6-1|F6X9D6_HUMAN Computationally mapped isoform of Regulatory factor X5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151344521, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430227.5", "url": "https://www.ensembl.org/id/ENST00000430227.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387618.1", "url": "https://www.ensembl.org/id/ENSP00000387618.1" } ] } }, { "isoform_ac": "F8W689-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPLARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGALKVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPGRAPPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKAAKQDIEDTASDAKRKRGRPRKKSGGSGERNSTPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAEKGAVLAQGQGDGTVSKGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKEAFPLAKGEVDTAPQGNKDLK", "length": 596, "header": "tr|F8W689-1|F8W689_HUMAN Computationally mapped isoform of Regulatory factor X5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151342249, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392746.7", "url": "https://www.ensembl.org/id/ENST00000392746.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000376502.3", "url": "https://www.ensembl.org/id/ENSP00000376502.3" } ] } }, { "isoform_ac": "F8WDU3-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRARPCRTK", "length": 42, "header": "tr|F8WDU3-1|F8WDU3_HUMAN Computationally mapped isoform of Regulatory factor X5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151345942, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435314.5", "url": "https://www.ensembl.org/id/ENST00000435314.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415012.1", "url": "https://www.ensembl.org/id/ENSP00000415012.1" } ] } }, { "isoform_ac": "F8WFE4-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISPCRTK", "length": 44, "header": "tr|F8WFE4-1|F8WFE4_HUMAN Computationally mapped isoform of Regulatory factor X5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151345942, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421986.5", "url": "https://www.ensembl.org/id/ENST00000421986.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399372.1", "url": "https://www.ensembl.org/id/ENSP00000399372.1" } ] } }, { "isoform_ac": "H0Y4B4-1", "url": "", "sequence": { "sequence": "PKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPLARGERKKSVVESSAPGANNLQEVHSPLYRQLSHPVYLVPGCCL", "length": 235, "header": "tr|H0Y4B4-1|RFX5_HUMAN Computationally mapped isoform of DNA-binding protein RFX5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151344756, "end_pos": 151342020, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436637.5", "url": "https://www.ensembl.org/id/ENST00000436637.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390769.1", "url": "https://www.ensembl.org/id/ENSP00000390769.1" } ] } }, { "isoform_ac": "P48382-1", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPLARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGALKVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPGRAPPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKAAKQDIEDTASDAKRKRGRPRKKSGGSGERNSTPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAEKGAVLAQGQGDGTVSKGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKEAFPLAKGEVDTAPQGNKDLKEHVLQSSLSQEHKDPKATPP", "length": 616, "header": "sp|P48382-1|RFX5_HUMAN Isoform 1 of DNA-binding protein RFX5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": { "chromosome": "1", "start_pos": 151346320, "end_pos": 151342189, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000290524.8", "url": "https://www.ensembl.org/id/ENST00000290524.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000290524.4", "url": "https://www.ensembl.org/id/ENSP00000290524.4" } ] } }, { "isoform_ac": "P48382-2", "url": "", "sequence": { "sequence": "MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDNDKLYLYLQLPSGPTTGDKRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARFLLQQHLISARSAHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPLARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGALKVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPGRAPPGGLTQPRGTENREVGIGGDQGPHDKGVKRTAEVPVSEASGQAPPAKAAKQDIEDTASDAKRKRGRPRKKSGGSGERNSTPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAEKGAVLAQGQGDGTVSKGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKEAFPLAKGEVDTAPQGNKDLKEHVLQSSLSQEHKDPKATPP", "length": 576, "header": "sp|P48382-2|RFX5_HUMAN Isoform 2 of DNA-binding protein RFX5 OS=Homo sapiens OX=9606 GN=RFX5 PE=1 SV=1 CANONICAL=P48382-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 433, "start_aa": "Thr", "end_pos": 433, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr433", "evidence": [ { "id": "P48382", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "P48382", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P48382" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 439, "start_aa": "Ser", "end_pos": 439, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser439", "evidence": [ { "id": "P48382", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "P48382", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P48382" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 442, "start_aa": "Ser", "end_pos": 442, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser442", "evidence": [ { "id": "P48382", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "P48382", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P48382" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser10" }, { "start_pos": 159, "end_pos": 159, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr159" }, { "start_pos": 161, "end_pos": 161, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr161" }, { "start_pos": 168, "end_pos": 168, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "15253423", "url": "https://glygen.org/publication/PubMed/15253423" } ], "site_lbl": "Thr168" }, { "start_pos": 185, "end_pos": 185, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" } ], "site_lbl": "Ser185" }, { "start_pos": 219, "end_pos": 219, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser219" }, { "start_pos": 221, "end_pos": 221, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser221" }, { "start_pos": 28, "end_pos": 28, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr28" }, { "start_pos": 308, "end_pos": 308, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "15253423", "url": "https://glygen.org/publication/PubMed/15253423" } ], "site_lbl": "Ser308" }, { "start_pos": 339, "end_pos": 339, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "15253423", "url": "https://glygen.org/publication/PubMed/15253423" } ], "site_lbl": "Ser339" }, { "start_pos": 473, "end_pos": 473, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "15253423", "url": "https://glygen.org/publication/PubMed/15253423" } ], "site_lbl": "Ser473" }, { "start_pos": 603, "end_pos": 603, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser603" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.", "journal": "Immunity", "date": "1999", "authors": "Boss J.M., Louis-Plence P., Bushey A., DeSandro A., Nagarajan U.M., Nilsen R.", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "reference": [ { "type": "PubMed", "id": "10072068", "url": "https://glygen.org/publication/PubMed/10072068" } ] }, { "title": "A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y.", "journal": "Mol. Cell. Biol.", "date": "2000", "authors": "Villard J, Peretti M, Masternak K, Barras E, Caretti G, Mantovani R, Reith W", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "reference": [ { "type": "PubMed", "id": "10779326", "url": "https://glygen.org/publication/PubMed/10779326" } ] }, { "title": "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.", "journal": "Mol. Cell. Biol.", "date": "2000", "authors": "Nekrep N, Jabrane-Ferrat N, Peterlin BM", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "reference": [ { "type": "PubMed", "id": "10825209", "url": "https://glygen.org/publication/PubMed/10825209" } ] }, { "title": "Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry.", "journal": "Journal of proteome research", "date": "2004", "authors": "Hjerrild M, Stensballe A, Rasmussen TE, Kofoed CB, Blom N, Sicheritz-Ponten T, Larsen MR, Brunak S, Jensen ON, Gammeltoft S", "evidence": [ { "database": "iPTMnet", "id": "P48382-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382-1" } ], "reference": [ { "type": "PubMed", "id": "15253423", "url": "https://glygen.org/publication/PubMed/15253423" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" }, { "database": "iPTMnet", "id": "P48382-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.", "journal": "J. Mol. Biol.", "date": "2010", "authors": "Laird KM, Briggs LL, Boss JM, Summers MF, Garvie CW", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "reference": [ { "type": "PubMed", "id": "20732328", "url": "https://glygen.org/publication/PubMed/20732328" } ] }, { "title": "Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock.", "journal": "Sci. Signal.", "date": "2012", "authors": "Xu C, Jin J, Bian C, Lam R, Tian R, Weist R, You L, Nie J, Bochkarev A, Tempel W, Tan CS, Wasney GA, Vedadi M, Gish GD, Arrowsmith CH, Pawson T, Yang XJ, Min J", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "reference": [ { "type": "PubMed", "id": "22649097", "url": "https://glygen.org/publication/PubMed/22649097" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" }, { "database": "iPTMnet", "id": "P48382", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P48382" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" }, { "database": "O-GlcNAc Atlas", "id": "P48382", "url": "https://oglcnac.org/atlas/detail/P48382" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Mol. Cell. Proteomics", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "F8W689", "url": "https://www.uniprot.org/uniprot/F8W689" }, { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" }, { "database": "O-GlcNAc Atlas", "id": "P48382", "url": "https://oglcnac.org/atlas/detail/P48382" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" }, { "database": "O-GlcNAc Atlas", "id": "P48382", "url": "https://oglcnac.org/atlas/detail/P48382" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" }, { "database": "O-GlcNAc Atlas", "id": "P48382", "url": "https://oglcnac.org/atlas/detail/P48382" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" }, { "database": "O-GlcNAc Atlas", "id": "P48382", "url": "https://oglcnac.org/atlas/detail/P48382" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "RFX5 promotes the progression of hepatocellular carcinoma through transcriptional activation of KDM4A.", "journal": "Scientific reports", "date": "2020", "authors": "Chen DB, Xie XW, Zhao YJ, Wang XY, Liao WJ, Chen P, Deng KJ, Fei R, Qin WY, Wang JH, Wu X, Shao QX, Wei L, Chen HS", "evidence": [ { "database": "RefSeq", "id": "NP_000440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440" } ], "reference": [ { "type": "PubMed", "id": "32883983", "url": "https://glygen.org/publication/PubMed/32883983" } ] }, { "title": "RFX5 regulates gene expression of the Pcdhalpha cluster.", "journal": "Yi chuan = Hereditas", "date": "2020", "authors": "Wang N, Jia ZL, Wu Q", "evidence": [ { "database": "RefSeq", "id": "NP_000440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440" } ], "reference": [ { "type": "PubMed", "id": "32952112", "url": "https://glygen.org/publication/PubMed/32952112" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" }, { "database": "O-GlcNAc Atlas", "id": "P48382", "url": "https://oglcnac.org/atlas/detail/P48382" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Identification of RFX5 as prognostic biomarker and associated with immune infiltration in stomach adenocarcinoma.", "journal": "European journal of medical research", "date": "2022", "authors": "Guo L, Liu D", "evidence": [ { "database": "RefSeq", "id": "NP_000440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000440" } ], "reference": [ { "type": "PubMed", "id": "36045400", "url": "https://glygen.org/publication/PubMed/36045400" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "P48382", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P48382" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).", "journal": "Genes Dev.", "date": "1995", "authors": "Steimle V, Durand B, Barras E, Zufferey M, Hadam MR, Mach B, Reith W", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "reference": [ { "type": "PubMed", "id": "7744245", "url": "https://glygen.org/publication/PubMed/7744245" } ] } ], "pathway": [ { "id": "hsa:5993", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5993", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZHD7-1", "protein_name": "Regulatory factor X5", "gene_name": "Rfx5", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAEDNPDAKSPKTGARPQGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQEVQKFSDNDKLYLYLQLPSGPSTGDKSSEPSILSNEEYMYAYRWIRNHLEEHMDTCLPKQSVYDAYRKYCESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDLKGSESPEMGPEVSPAPRDELVEAACALTCDWAERILKRSFSSIVQVARYLLQQHLISARSAHAHVLKAGGLAEEEERGPRERSSCKSKNGVENLEGGGPKKPERPAQPPKELEARAGTDSPGRSERKKSVIDSSVPAASKPQVNALVARLPVLLPRAPRSLITPISGTLKVATLPLPTRVGGPQAAVPIINMILPPVPTLSGPGPGPGLGPRFGPGPGSGSGPGLGAGPGPGPGPGLGAGPGLGPGLGAGVGPGPGLGAGPGQRPGLRAGVGPGPGLGAGLGLGPGRVPPRAPILPRGTESREVGISGDPRPHDKGVKRTAEVPLSEASGQDPPVKEMKHETEDTVSEAKRKRGRPRKKTGGSGERNATPEKSAAAVNSPRSPRLLWETWGSKRENNLVGRPERPGAVGEAQRETVLAQGQEDGAVSKGEKSLSSQEAKEAEDKIPPVTSKVSVIKGRIQKEALQLVKGEADAATQGNKGLKGRVLQSSLTHEHKDPKATPP", "length": 681 }, "evidence": [ { "id": "45229093", "url": "http://www.informatics.jax.org/homology/45229093", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9JL61-1", "protein_name": "DNA-binding protein Rfx5", "gene_name": "Rfx5", "tax_id": 10090, "organism": "Mus musculus", 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"https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P48382", "url": "https://www.uniprot.org/uniprot/P48382" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": 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