{ "uniprot_canonical_ac": "O75626-1", "uniprot_ac": "O75626", "uniprot_id": "PRDM1_HUMAN", "mass": { "chemical_mass": 91771.0, "monoisotopic_mass": 91771.0 }, "refseq": { "ac": "NP_001189", "name": "PR domain zinc finger protein 1 isoform 1", "summary": "This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" }, "gene_names": [ { "name": "PRDM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75626", "id": "O75626" }, { "name": "BLIMP1; PRDI-BF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189", "id": "NP_001189" }, { "name": "BLIMP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75626", "id": "O75626" }, { "name": "PRDM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189", "id": "NP_001189" } ], "protein_names": [ { "name": "PR domain zinc finger protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75626" }, { "name": "2.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75626" }, { "name": "B-lymphocyte-induced maturation protein 1; beta-interferon gene positive-regulatory domain I binding factor; PRDI-binding factor-1; PR domain zinc finger protein 1; PR domain 1; BLIMP-1; PR domain containing 1, with ZNF domain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189", "id": "NP_001189" }, { "name": "BLIMP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75626" }, { "name": "Beta-interferon gene positive regulatory domain I-binding factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75626" }, { "name": "PR domain zinc finger protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189", "id": "NP_001189" }, { "name": "PR domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75626" }, { "name": "PRDI-BF1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75626" }, { "name": "PRDI-binding factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75626" }, { "name": "Positive regulatory domain I-binding factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75626" } ], "function": [ { "annotation": "BLIMP1 and NR4A3 transcription factors reciprocally regulate antitumor CAR T cell stemness and exhaustion.", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" }, { "database": "PubMed", "id": "36350986", "url": "https://glygen.org/publication/PubMed/36350986" } ] }, { "annotation": "Exploring the putative role of PRDM1 and PRDM2 transcripts as mediators of T lymphocyte activation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" }, { "database": "PubMed", "id": "36964555", "url": "https://glygen.org/publication/PubMed/36964555" } ] }, { "annotation": "Pro-Inflammatory of PRDM1/SIRT2/NLRP3 Axis in Monosodium Urate-Induced Acute Gouty Arthritis.", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" }, { "database": "PubMed", "id": "37385228", "url": "https://glygen.org/publication/PubMed/37385228" } ] }, { "annotation": "Regulatory network of BLIMP1, IRF4, and XBP1 triad in plasmacytic differentiation and multiple myeloma pathogenesis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" }, { "database": "PubMed", "id": "36081178", "url": "https://glygen.org/publication/PubMed/36081178" } ] }, { "annotation": "The role of PRDM1 gene polymorphism in the progression of hepatocellular carcinoma in Egyptian patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" }, { "database": "PubMed", "id": "36424348", "url": "https://glygen.org/publication/PubMed/36424348" } ] }, { "annotation": "This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" } ] }, { "annotation": "Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection. Binds specifically to the PRDI element in the promoter of the beta-interferon gene. Drives the maturation of B-lymphocytes into Ig secreting cells. Associates with the transcriptional repressor ZNF683 to chromatin at gene promoter regions.", "evidence": [ { "database": "UniProtKB", "id": "A0A3B3IU23", "url": "https://www.uniprot.org/uniprot/A0A3B3IU23#function" }, { "database": "UniProtKB", "id": "PIRNR013212", "url": "https://www.uniprot.org/uniprot/PIRNR013212#function" }, { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626#function" }, { "database": "PubMed", "id": "1851123", "url": "https://glygen.org/publication/PubMed/1851123" }, { "database": "PubMed", "id": "12626569", "url": "https://glygen.org/publication/PubMed/12626569" }, { "database": "UniProtKB", "id": "Q60636", "url": "https://www.uniprot.org/uniprot/Q60636#function" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1420322660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420322660" }, { "id": "rs1420322660", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1420322660#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 131, "end_pos": 131, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "6", "chr_pos": "106095715", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1170558903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170558903" }, { "id": "rs1170558903", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1170558903#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 260, "end_pos": 260, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "6", "chr_pos": "106104939", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P260", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs550094148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550094148" }, { "id": "rs550094148", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs550094148" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 344, "end_pos": 344, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQS->NQS).", "chr_id": "6", "chr_pos": "106105190", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1219014497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219014497" }, { "id": "rs1219014497", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1219014497#frequency_tab" }, { "id": "rs1219014497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1219014497" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 348, "end_pos": 348, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "6", "chr_pos": "106105204", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751067282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751067282" }, { "id": "rs751067282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751067282" }, { "id": "rs751067282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751067282#frequency_tab" }, { "id": "rs751067282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751067282" }, { "id": "rs1057272820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057272820" }, { "id": "rs1057272820", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1057272820#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 34, "end_pos": 34, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "6", "chr_pos": "106099353", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75626", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75626" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 359, "end_pos": 359, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "106105236", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T359", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID: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:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O75626", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75626" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 45, "end_pos": 45, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DMT->NMT).", "chr_id": "6", "chr_pos": "106088291", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D45", "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" ] }, { "evidence": [ { "id": "rs780897887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780897887" }, { "id": "rs780897887", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780897887" }, { "id": "rs780897887", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780897887" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 463, "end_pos": 463, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "6", "chr_pos": "106105548", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1280567332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1280567332" }, { "id": "rs1280567332", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1280567332" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 463, "end_pos": 463, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NST).", "chr_id": "6", "chr_pos": "106105547", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75626", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75626" } ], "glycoeffect": [], "start_pos": 579, "end_pos": 579, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "106105895", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V579", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "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" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O75626", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75626" }, { "id": "rs373847038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373847038" }, { "id": "rs373847038", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373847038" }, { "id": "rs373847038", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373847038" }, { "id": "rs373847038", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373847038#frequency_tab" }, { "id": "rs373847038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373847038" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 711, "end_pos": 711, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NCA->NCT).", "chr_id": "6", "chr_pos": "106107139", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A711", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs749956643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749956643" }, { "id": "rs749956643", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749956643" }, { "id": "rs749956643", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749956643#frequency_tab" }, { "id": "rs749956643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749956643" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 773, "end_pos": 773, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "6", "chr_pos": "106107327", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K773", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 107, "end_pos": 107, "sequence_org": "I", "sequence_mut": "G", "comment": "Protein instability caused by increased susceptibility to proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" }, { "database": "PubMed", "id": "28842558", "url": "https://glygen.org/publication/PubMed/28842558" } ] }, { "start_pos": 107, "end_pos": 107, "sequence_org": "I", "sequence_mut": "K", "comment": "Protein instability caused by increased susceptibility to proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" }, { "database": "PubMed", "id": "28842558", "url": "https://glygen.org/publication/PubMed/28842558" } ] }, { "start_pos": 84, "end_pos": 84, "sequence_org": "P", "sequence_mut": "G", "comment": "Protein instability caused by increased susceptibility to proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" }, { "database": "PubMed", "id": "28842558", "url": "https://glygen.org/publication/PubMed/28842558" } ] }, { "start_pos": 84, "end_pos": 84, "sequence_org": "P", "sequence_mut": "K", "comment": "Protein instability caused by increased susceptibility to proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" }, { "database": "PubMed", "id": "28842558", "url": "https://glygen.org/publication/PubMed/28842558" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "72.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "66.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "70.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "73.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "74.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "79.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75626" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "common_name": "Human" } ], "gene": [ { "name": "PRDM1", "url": "https://www.uniprot.org/uniprot/O75626", "locus": { "chromosome": "6", "start_pos": 106109939, "end_pos": 105993463, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000057657", "url": "https://www.ensembl.org/id/ENSG00000057657" } ] } } ], "crossref": [ { "id": "ENSG00000057657", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000057657", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75626", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75626", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd19187", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19187", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL5214860", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL5214860", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "PRDM1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "639", "url": "https://www.ncbi.nlm.nih.gov/gene/639", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "9346", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9346", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75626", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75626*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001214", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001214", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013087", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013087", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016608", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016608", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036236", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036236", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044413", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044413", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046341", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046341", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:639", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:639", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603423", "url": "http://www.omim.org/entry/603423", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75626", "url": "https://www.nextprot.org/entry/NX_O75626", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75626", "url": "https://oglcnac.org/atlas/detail/O75626", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75626", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75626", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CQNGMNV", "url": "https://omabrowser.org/oma/group/CQNGMNV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2880949at2759", "url": "http://www.orthodb.org/?query=2880949at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR16515", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16515", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR16515:SF26", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16515:SF26", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3DAL", "url": "https://www.rcsb.org/structure/3DAL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00096", "url": "http://pfam.xfam.org/family/PF00096", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21549", "url": "http://pfam.xfam.org/family/PF21549", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75626", "url": "https://pharos.nih.gov/targets/O75626", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75626", "url": "http://purl.obolibrary.org/obo/PR_O75626", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A3B3IU23", "url": "https://www.uniprot.org/uniprot/A0A3B3IU23", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IU23-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IU23-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B2REA4", "url": "https://www.uniprot.org/uniprot/B2REA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B2REA4-1", "url": "https://www.uniprot.org/uniprot/B2REA4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B2REA5", "url": "https://www.uniprot.org/uniprot/B2REA5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B2REA5-1", "url": "https://www.uniprot.org/uniprot/B2REA5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75626-1", "url": "https://www.uniprot.org/uniprot/O75626-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75626-2", "url": "https://www.uniprot.org/uniprot/O75626-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75626-3", "url": "https://www.uniprot.org/uniprot/O75626-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLDICLEKRVGTTLAAPKCNSSTVRFQGLAEGTKGTMKMDMEDADMTLWTEAEFEEKCTYIVNDHPWDSGADGGTSVQAEASLPRNLLFKYATNSEEVIGVMSKEYIPKGTRFGPLIGEIYTNDTVPKNANRKYFWRIYSRGELHHFIDGFNEEKSNWMRYVNPAHSPREQNLAACQNGMNIYFYTIKPIPANQELLVWYCRDFAERLHYPYPGELTMMNLTQTQSSLKQPSTEKNELCPKNVPKREYSVKEILKLDSNPSKGKDLYRSNISPLTSEKDLDDFRRRGSPEMPFYPRVVYPIRAPLPEDFLKASLAYGIERPTYITRSPIPSSTTPSPSARSSPDQSLKSSSPHSSPGNTVSPVGPGSQEHRDSYAYLNASYGTEGLGSYPGYAPLPHLPPAFIPSYNAHYPKFLLPPYGMNCNGLSAVSSMNGINNFGLFPRLCPVYSNLLGGGSLPHPMLNPTSLPSSLPSDGARRLLQPEHPREVLVPAPHSAFSFTGAAASMKDKACSPTSGSPTAGTAATAEHVVQPKATSAAMAAPSSDEAMNLIKNKRNMTGYKTLPYPLKKQNGKIKYECNVCAKTFGQLSNLKVHLRVHSGERPFKCQTCNKGFTQLAHLQKHYLVHTGEKPHECQVCHKRFSSTSNLKTHLRLHSGEKPYQCKVCPAKFTQFVHLKLHKRLHTRERPHKCSQCHKNYIHLCSLKVHLKGNCAAAPAPGLPLEDLTRINEEIEKFDISDNADRLEDVEDDISVISVVEKEILAVVRKEKEETGLKVSLQRNMGNGLLSSGCSLYESSDLPLMKLPPSNPLPLVPVKVKQETVEPMDP", "length": 825, "header": "sp|O75626-1|PRDM1_HUMAN Isoform 1 of PR domain zinc finger protein 1 OS=Homo sapiens OX=9606 GN=PRDM1 PE=1 SV=2 CANONICAL=O75626-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IU23-1", "url": "", "sequence": { "sequence": "MTPGILGHWTVCPEHFSAMRGKARDCSEAAPKCNSSTVRFQGLAEGTKGTMKMDMEDADMTLWTEAEFEEKCTYIVNDHPWDSGADGGTSVQAEASLPRNLLFKYATNSEEVIGVMSKEYIPKGTRFGPLIGEIYTNDTVPKNANRKYFWRIYSRGELHHFIDGFNEEKSNWMRYVNPAHSPREQNLAACQNGMNIYFYTIKPIPANQELLVWYCRDFAERLHYPYPGELTMMNLTQTQSSLKQPSTEKNELCPKNVPKREYSVKEILKLDSNPSKGKDLYRSNISPLTSEKDLDDFRRRGSPEMPFYPRVVYPIRAPLPEDFLKASLAYGIERPTYITRSPIPSSTTPSPSARSSPDQSLKSSSPHSSPGNTVSPVGPGSQEHRDSYAYLNASYGTEGLGSYPGYAPLPHLPPAFIPSYNAHYPKFLLPPYGMNCNGLSAVSSMNGINNFGLFPRLCPVYSNLLGGGSLPHPMLNPTSLPSSLPSDGARRLLQPEHPREVLVPAPHSAFSFTGAAASMKDKACSPTSGSPTAGTAATAEHVVQPKATSAAMAAPSSDEAMNLIKNKRNMTGYKTLPYPLKKQNGKIKYECNVCAKTFGQLSNLKVHLRVHSGERPFKCQTCNKGFTQLAHLQKHYLVHTGEKPHECQVCHKRFSSTSNLKTHLRLHSGEKPYQCKVCPAKFTQFVHLKLHKRLHTRERPHKCSQCHKNYIHLCSLKVHLKGNCAAAPAPGLPLEDLTRINEEIEKFDISDNADRLEDVEDDISVISVVEKEILAVVRKEKEETGLKVSLQRNMGNGLLSSGCSLYESSDLPLMKLPPSNPLPLVPVKVKQETVEPMDP", "length": 839, "header": "tr|A0A3B3IU23-1|PRDM1_HUMAN Computationally mapped isoform of PR domain zinc finger protein 1 OS=Homo sapiens OX=9606 GN=PRDM1 PE=1 SV=1 CANONICAL=O75626-1" }, "locus": { "chromosome": "6", "start_pos": 106107483, "end_pos": 106087847, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648754.1", "url": "https://www.ensembl.org/id/ENST00000648754.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498029.1", "url": "https://www.ensembl.org/id/ENSP00000498029.1" } ] } }, { "isoform_ac": "B2REA4-1", "url": "", "sequence": { "sequence": "MAGEVHLCPTQCFHKKIYSRGELHHFIDGFNEEKSNWMRYVNPAHSPREQNLAACQNGMNIYFYTIKPIPANQELLVWYCRDFAERLHYPYPGELTMMNLTQTQSSLKQPSTEKNELCPKNVPKREYSVKEILKLDSNPSKGKDLYRSNISPLTSEKDLDDFRRRGSPEMP", "length": 171, "header": "tr|B2REA4-1|PRDM1_HUMAN Computationally mapped isoform of PR domain zinc finger protein 1 OS=Homo sapiens OX=9606 GN=PRDM1 PE=1 SV=1 CANONICAL=O75626-1" }, "locus": { "chromosome": "6", "start_pos": 106105036, "end_pos": 106098674, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450060.5", "url": "https://www.ensembl.org/id/ENST00000450060.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399772.1", "url": "https://www.ensembl.org/id/ENSP00000399772.1" } ] } }, { "isoform_ac": "B2REA5-1", "url": "", "sequence": { "sequence": "MKMDMEDADMTLWTEAEFEEKCTYIVNDHPWDSGADGGTSVQAEASLPRNLLFKYATNSEEVI", "length": 63, "header": "tr|B2REA5-1|PRDM1_HUMAN Computationally mapped isoform of PR domain zinc finger protein 1 OS=Homo sapiens OX=9606 GN=PRDM1 PE=1 SV=1 CANONICAL=O75626-1" }, "locus": { "chromosome": "6", "start_pos": 106095620, "end_pos": 106088267, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424894.1", "url": "https://www.ensembl.org/id/ENST00000424894.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000395566.1", "url": "https://www.ensembl.org/id/ENSP00000395566.1" } ] } }, { "isoform_ac": "O75626-1", "url": "", "sequence": { "sequence": "MLDICLEKRVGTTLAAPKCNSSTVRFQGLAEGTKGTMKMDMEDADMTLWTEAEFEEKCTYIVNDHPWDSGADGGTSVQAEASLPRNLLFKYATNSEEVIGVMSKEYIPKGTRFGPLIGEIYTNDTVPKNANRKYFWRIYSRGELHHFIDGFNEEKSNWMRYVNPAHSPREQNLAACQNGMNIYFYTIKPIPANQELLVWYCRDFAERLHYPYPGELTMMNLTQTQSSLKQPSTEKNELCPKNVPKREYSVKEILKLDSNPSKGKDLYRSNISPLTSEKDLDDFRRRGSPEMPFYPRVVYPIRAPLPEDFLKASLAYGIERPTYITRSPIPSSTTPSPSARSSPDQSLKSSSPHSSPGNTVSPVGPGSQEHRDSYAYLNASYGTEGLGSYPGYAPLPHLPPAFIPSYNAHYPKFLLPPYGMNCNGLSAVSSMNGINNFGLFPRLCPVYSNLLGGGSLPHPMLNPTSLPSSLPSDGARRLLQPEHPREVLVPAPHSAFSFTGAAASMKDKACSPTSGSPTAGTAATAEHVVQPKATSAAMAAPSSDEAMNLIKNKRNMTGYKTLPYPLKKQNGKIKYECNVCAKTFGQLSNLKVHLRVHSGERPFKCQTCNKGFTQLAHLQKHYLVHTGEKPHECQVCHKRFSSTSNLKTHLRLHSGEKPYQCKVCPAKFTQFVHLKLHKRLHTRERPHKCSQCHKNYIHLCSLKVHLKGNCAAAPAPGLPLEDLTRINEEIEKFDISDNADRLEDVEDDISVISVVEKEILAVVRKEKEETGLKVSLQRNMGNGLLSSGCSLYESSDLPLMKLPPSNPLPLVPVKVKQETVEPMDP", "length": 825, "header": "sp|O75626-1|PRDM1_HUMAN Isoform 1 of PR domain zinc finger protein 1 OS=Homo sapiens OX=9606 GN=PRDM1 PE=1 SV=2 CANONICAL=O75626-1" }, "locus": { "chromosome": "6", "start_pos": 106107483, "end_pos": 106086554, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369096.9", "url": "https://www.ensembl.org/id/ENST00000369096.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000358092.4", "url": "https://www.ensembl.org/id/ENSP00000358092.4" } ] } }, { "isoform_ac": "O75626-2", "url": "", "sequence": { "sequence": "MKMDMEDADMTLWTEAEFEEKCTYIVNDHPWDSGADGGTSVQAEASLPRNLLFKYATNSEEVIGVMSKEYIPKGTRFGPLIGEIYTNDTVPKNANRKYFWRIYSRGELHHFIDGFNEEKSNWMRYVNPAHSPREQNLAACQNGMNIYFYTIKPIPANQELLVWYCRDFAERLHYPYPGELTMMNLTQTQSSLKQPSTEKNELCPKNVPKREYSVKEILKLDSNPSKGKDLYRSNISPLTSEKDLDDFRRRGSPEMPFYPRVVYPIRAPLPEDFLKASLAYGIERPTYITRSPIPSSTTPSPSARSSPDQSLKSSSPHSSPGNTVSPVGPGSQEHRDSYAYLNASYGTEGLGSYPGYAPLPHLPPAFIPSYNAHYPKFLLPPYGMNCNGLSAVSSMNGINNFGLFPRLCPVYSNLLGGGSLPHPMLNPTSLPSSLPSDGARRLLQPEHPREVLVPAPHSAFSFTGAAASMKDKACSPTSGSPTAGTAATAEHVVQPKATSAAMAAPSSDEAMNLIKNKRNMTGYKTLPYPLKKQNGKIKYECNVCAKTFGQLSNLKVHLRVHSGERPFKCQTCNKGFTQLAHLQKHYLVHTGEKPHECQVCHKRFSSTSNLKTHLRLHSGEKPYQCKVCPAKFTQFVHLKLHKRLHTRERPHKCSQCHKNYIHLCSLKVHLKGNCAAAPAPGLPLEDLTRINEEIEKFDISDNADRLEDVEDDISVISVVEKEILAVVRKEKEETGLKVSLQRNMGNGLLSSGCSLYESSDLPLMKLPPSNPLPLVPVKVKQETVEPMDP", "length": 789, "header": "sp|O75626-2|PRDM1_HUMAN Isoform 2 of PR domain zinc finger protein 1 OS=Homo sapiens OX=9606 GN=PRDM1 PE=1 SV=2 CANONICAL=O75626-1" }, "locus": { "chromosome": "6", "start_pos": 106107483, "end_pos": 106088267, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652320.1", "url": "https://www.ensembl.org/id/ENST00000652320.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498580.1", "url": "https://www.ensembl.org/id/ENSP00000498580.1" } ] } }, { "isoform_ac": "O75626-3", "url": "", "sequence": { "sequence": "MEKIYSRGELHHFIDGFNEEKSNWMRYVNPAHSPREQNLAACQNGMNIYFYTIKPIPANQELLVWYCRDFAERLHYPYPGELTMMNLTQTQSSLKQPSTEKNELCPKNVPKREYSVKEILKLDSNPSKGKDLYRSNISPLTSEKDLDDFRRRGSPEMPFYPRVVYPIRAPLPEDFLKASLAYGIERPTYITRSPIPSSTTPSPSARSSPDQSLKSSSPHSSPGNTVSPVGPGSQEHRDSYAYLNASYGTEGLGSYPGYAPLPHLPPAFIPSYNAHYPKFLLPPYGMNCNGLSAVSSMNGINNFGLFPRLCPVYSNLLGGGSLPHPMLNPTSLPSSLPSDGARRLLQPEHPREVLVPAPHSAFSFTGAAASMKDKACSPTSGSPTAGTAATAEHVVQPKATSAAMAAPSSDEAMNLIKNKRNMTGYKTLPYPLKKQNGKIKYECNVCAKTFGQLSNLKVHLRVHSGERPFKCQTCNKGFTQLAHLQKHYLVHTGEKPHECQVCHKRFSSTSNLKTHLRLHSGEKPYQCKVCPAKFTQFVHLKLHKRLHTRERPHKCSQCHKNYIHLCSLKVHLKGNCAAAPAPGLPLEDLTRINEEIEKFDISDNADRLEDVEDDISVISVVEKEILAVVRKEKEETGLKVSLQRNMGNGLLSSGCSLYESSDLPLMKLPPSNPLPLVPVKVKQETVEPMDP", "length": 691, "header": "sp|O75626-3|PRDM1_HUMAN Isoform 3 of PR domain zinc finger protein 1 OS=Homo sapiens OX=9606 GN=PRDM1 PE=1 SV=2 CANONICAL=O75626-1" }, "locus": { "chromosome": "6", "start_pos": 106107483, "end_pos": 106099086, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369089.3", "url": "https://www.ensembl.org/id/ENST00000369089.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000358085.3", "url": "https://www.ensembl.org/id/ENSP00000358085.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 448, "start_aa": "Ser", "end_pos": 448, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser448", "evidence": [ { "id": "O75626", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75626" }, { "id": "34907035", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34907035" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 472, "start_aa": "Ser", "end_pos": 472, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser472", "evidence": [ { "id": "O75626", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75626" }, { "id": "34907035", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34907035" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 534, "start_aa": "Thr", "end_pos": 534, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr534", "evidence": [ { "id": "O75626", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75626" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of a functionally impaired positive regulatory domain I binding factor 1 transcription repressor in myeloma cell lines.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003-03-15", "authors": "Gy\u00f6ry Ildik\u00f3, Fej\u00e9r Gy\u00f6rgy, Ghosh Nilanjan, Seto Ed, Wright Kenneth L", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "reference": [ { "type": "PubMed", "id": "12626569", "url": "https://glygen.org/publication/PubMed/12626569" } ] }, { "title": "Stat3 dimerization regulated by reversible acetylation of a single lysine residue.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Yuan ZL, Guan YJ, Chatterjee D, Chin YE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "15653507", "url": "https://glygen.org/publication/PubMed/15653507" } ] }, { "title": "BLIMP1 regulates cell growth through repression of p53 transcription.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Yan J, Jiang J, Lim CA, Wu Q, Ng HH, Chin KC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "17264218", "url": "https://glygen.org/publication/PubMed/17264218" } ] }, { "title": "Identification and characterization of a novel repressor of beta-interferon gene expression.", "journal": "Genes & development", "date": "1991-05", "authors": "Keller A D, Maniatis T", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "reference": [ { "type": "PubMed", "id": "1851123", "url": "https://glygen.org/publication/PubMed/1851123" } ] }, { "title": "Oncogenic kinase NPM/ALK induces through STAT3 expression of immunosuppressive protein CD274 (PD-L1, B7-H1).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Marzec M, Zhang Q, Goradia A, Raghunath PN, Liu X, Paessler M, Wang HY, Wysocka M, Cheng M, Ruggeri BA, Wasik MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "19088198", "url": "https://glygen.org/publication/PubMed/19088198" } ] }, { "title": "Oncogenic kinase NPM/ALK induces expression of HIF1alpha mRNA.", "journal": "Oncogene", "date": "2011", "authors": "Marzec M, Liu X, Wong W, Yang Y, Pasha T, Kantekure K, Zhang P, Woetmann A, Cheng M, Odum N, Wasik MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "21102525", "url": "https://glygen.org/publication/PubMed/21102525" } ] }, { "title": "NANOS3 function in human germ cell development.", "journal": "Hum. Mol. Genet.", "date": "2011", "authors": "Julaton VT, Reijo Pera RA", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "reference": [ { "type": "PubMed", "id": "21421998", "url": "https://glygen.org/publication/PubMed/21421998" } ] }, { "title": "IL-2R common gamma-chain is epigenetically silenced by nucleophosphin-anaplastic lymphoma kinase (NPM-ALK) and acts as a tumor suppressor by targeting NPM-ALK.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Zhang Q, Wang HY, Liu X, Bhutani G, Kantekure K, Wasik M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "21715655", "url": "https://glygen.org/publication/PubMed/21715655" } ] }, { "title": "SUMOylation of Blimp-1 is critical for plasma cell differentiation.", "journal": "EMBO reports", "date": "2012", "authors": "Ying HY, Su ST, Hsu PH, Chang CC, Lin IY, Tseng YH, Tsai MD, Shih HM, Lin KI", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "reference": [ { "type": "PubMed", "id": "22555612", "url": "https://glygen.org/publication/PubMed/22555612" } ] }, { "title": "PRDM1/BLIMP1 is commonly inactivated in anaplastic large T-cell lymphoma.", "journal": "Blood", "date": "2013", "authors": "Boi M, Rinaldi A, Kwee I, Bonetti P, Todaro M, Tabbo F, Piva R, Rancoita PM, Matolcsy A, Timar B, Tousseyn T, Rodriguez-Pinilla SM, Piris MA, Bea S, Campo E, Bhagat G, Swerdlow SH, Rosenwald A, Ponzoni M, Young KH, Piccaluga PP, Dummer R, Pileri S, Zucca E, Inghirami G, Bertoni F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "24004669", "url": "https://glygen.org/publication/PubMed/24004669" } ] }, { "title": "DRE-1/FBXO11-dependent degradation of BLMP-1/BLIMP-1 governs C. elegans developmental timing and maturation.", "journal": "Developmental cell", "date": "2014", "authors": "Horn M, Geisen C, Cermak L, Becker B, Nakamura S, Klein C, Pagano M, Antebi A", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "reference": [ { "type": "PubMed", "id": "24613396", "url": "https://glygen.org/publication/PubMed/24613396" } ] }, { "title": "Transcriptomes and shRNA suppressors in a TP53 allele-specific model of early-onset colon cancer in African Americans.", "journal": "Molecular cancer research : MCR", "date": "2014", "authors": "Weige CC, Birtwistle MR, Mallick H, Yi N, Berrong Z, Cloessner E, Duff K, Tidwell J, Clendenning M, Wilkerson B, Farrell C, Bunz F, Ji H, Shtutman M, Creek KE, Banister CE, Buckhaults PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "24743655", "url": "https://glygen.org/publication/PubMed/24743655" } ] }, { "title": "BLMP-1/Blimp-1 regulates the spatiotemporal cell migration pattern in C. elegans.", "journal": "PLoS Genet.", "date": "2014", "authors": "Huang Tsai-Fang, Cho Chun-Yi, Cheng Yi-Ting, Huang Jheng-Wei, Wu Yun-Zhe, Yeh Athena Yi-Chun, Nishiwaki Kiyoji, Chang Shih-Chung, Wu Yi-Chun", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "reference": [ { "type": "PubMed", "id": "24968003", "url": "https://glygen.org/publication/PubMed/24968003" } ] }, { "title": "PRDM1/BLIMP1: a tumor suppressor gene in B and T cell lymphomas.", "journal": "Leukemia & lymphoma", "date": "2015", "authors": "Boi M, Zucca E, Inghirami G, Bertoni F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "25115512", "url": "https://glygen.org/publication/PubMed/25115512" } ] }, { "title": "ALK-dependent control of hypoxia-inducible factors mediates tumor growth and metastasis.", "journal": "Cancer research", "date": "2014", "authors": "Martinengo C, Poggio T, Menotti M, Scalzo MS, Mastini C, Ambrogio C, Pellegrino E, Riera L, Piva R, Ribatti D, Pastorino F, Perri P, Ponzoni M, Wang Q, Voena C, Chiarle R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "25193384", "url": "https://glygen.org/publication/PubMed/25193384" } ] }, { "title": "SOX17 is a critical specifier of human primordial germ cell fate.", "journal": "Cell", "date": "2015-01-15", "authors": "Irie Naoko, Weinberger Leehee, Tang Walfred W C, Kobayashi Toshihiro, Viukov Sergey, Manor Yair S, Dietmann Sabine, Hanna Jacob H, Surani M Azim", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "25543152", "url": "https://glygen.org/publication/PubMed/25543152" } ] }, { "title": "Robust In Vitro Induction of Human Germ Cell Fate from Pluripotent Stem Cells.", "journal": "Cell stem cell", "date": "2015-08-06", "authors": "Sasaki Kotaro, Yokobayashi Shihori, Nakamura Tomonori, Okamoto Ikuhiro, Yabuta Yukihiro, Kurimoto Kazuki, Ohta Hiroshi, Moritoki Yoshinobu, Iwatani Chizuru, Tsuchiya Hideaki, Nakamura Shinichiro, Sekiguchi Kiyotoshi, Sakuma Tetsushi, Yamamoto Takashi, Mori Takahide, Woltjen Knut, Nakagawa Masato, Yamamoto Takuya, Takahashi Kazutoshi, Yamanaka Shinya, Saitou Mitinori", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "26189426", "url": "https://glygen.org/publication/PubMed/26189426" } ] }, { "title": "Nucleophosmin-anaplastic lymphoma kinase: the ultimate oncogene and therapeutic target.", "journal": "Blood", "date": "2017", "authors": "Werner MT, Zhao C, Zhang Q, Wasik MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "27879258", "url": "https://glygen.org/publication/PubMed/27879258" } ] }, { "title": "HSP70-Hrd1 axis precludes the oncorepressor potential of N-terminal misfolded Blimp-1s in lymphoma cells.", "journal": "Nature communications", "date": "2017", "authors": "Wang WF, Yan L, Liu Z, Liu LX, Lin J, Liu ZY, Chen XP, Zhang W, Xu ZZ, Shi T, Li JM, Zhao YL, Meng G, Xia Y, Li JY, Zhu J", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "reference": [ { "type": "PubMed", "id": "28842558", "url": "https://glygen.org/publication/PubMed/28842558" } ] }, { "title": "Evolutionarily Distinctive Transcriptional and Signaling Programs Drive Human Germ Cell Lineage Specification from Pluripotent Stem Cells.", "journal": "Cell stem cell", "date": "2017-10-05", "authors": "Kojima Yoji, Sasaki Kotaro, Yokobayashi Shihori, Sakai Yoshitake, Nakamura Tomonori, Yabuta Yukihiro, Nakaki Fumio, Nagaoka So, Woltjen Knut, Hotta Akitsu, Yamamoto Takuya, Saitou Mitinori", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "28985527", "url": "https://glygen.org/publication/PubMed/28985527" } ] }, { "title": "Germline competency of human embryonic stem cells depends on eomesodermin.", "journal": "Biology of reproduction", "date": "2017-01-01", "authors": "Chen Di, Liu Wanlu, Lukianchikov Anastasia, Hancock Grace V, Zimmerman Jill, Lowe Matthew G, Kim Rachel, Galic Zoran, Irie Naoko, Surani M Azim, Jacobsen Steven E, Clark Amander T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "29091993", "url": "https://glygen.org/publication/PubMed/29091993" } ] }, { "title": "PD-L1.", "journal": "Journal of clinical pathology", "date": "2018", "authors": "Kythreotou A, Siddique A, Mauri FA, Bower M, Pinato DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "29097600", "url": "https://glygen.org/publication/PubMed/29097600" } ] }, { "title": "A PAX5-OCT4-PRDM1 developmental switch specifies human primordial germ cells.", "journal": "Nature cell biology", "date": "2018", "authors": "Fang F, Angulo B, Xia N, Sukhwani M, Wang Z, Carey CC, Mazurie A, Cui J, Wilkinson R, Wiedenheft B, Irie N, Surani MA, Orwig KE, Reijo Pera RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "29713018", "url": "https://glygen.org/publication/PubMed/29713018" } ] }, { "title": "The TFAP2C-Regulated OCT4 Naive Enhancer Is Involved in Human Germline Formation.", "journal": "Cell reports", "date": "2018-12-26", "authors": "Chen Di, Liu Wanlu, Zimmerman Jill, Pastor William A, Kim Rachel, Hosohama Linzi, Ho Jamie, Aslanyan Marianna, Gell Joanna J, Jacobsen Steven E, Clark Amander T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "30590035", "url": "https://glygen.org/publication/PubMed/30590035" } ] }, { "title": "The Transcriptional Regulator Sin3A Contributes to the Oncogenic Potential of STAT3.", "journal": "Cancer research", "date": "2019", "authors": "Gambi G, Di Simone E, Basso V, Ricci L, Wang R, Verma A, Elemento O, Ponzoni M, Inghirami G, Icardi L, Mondino A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9701898", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898" } ], "reference": [ { "type": "PubMed", "id": "30692217", "url": "https://glygen.org/publication/PubMed/30692217" } ] }, { "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": "O75626", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75626" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Analysis of multi-lineage gene expression dynamics during primordial germ cell induction from human induced pluripotent stem cells.", "journal": "Stem cell research & therapy", "date": "2020-03-04", "authors": "Fang Fang, Li Zili, Zhao Qian, Xiong Chengliang, Ni Ke", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "32127035", "url": "https://glygen.org/publication/PubMed/32127035" } ] }, { "title": "LDB1 and the SWI/SNF complex participate in both transcriptional activation and repression by Caenorhabditis elegans BLIMP1/PRDM1.", "journal": "Biochim. Biophys. Acta", "date": "2020", "authors": "Fong Hei Tung, Hagen Thilo, Inoue Takao", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "reference": [ { "type": "PubMed", "id": "32417234", "url": "https://glygen.org/publication/PubMed/32417234" } ] }, { "title": "Activin A-derived human embryonic stem cells show increased competence to differentiate into primordial germ cell-like cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2021-05", "authors": "Mishra Swati, Taelman Jasin, Popovic Mina, Tilleman Laurentijn, Duthoo Evi, van der Jeught Margot, Deforce Dieter, van Nieuwerburgh Filip, Menten Bj\u00f6rn, de Sutter Petra, Boel Annekatrien, Chuva De Sousa Lopes Susana M, Heindryckx Bj\u00f6rn", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "33470497", "url": "https://glygen.org/publication/PubMed/33470497" } ] }, { "title": "GATA transcription factors, SOX17 and TFAP2C, drive the human germ-cell specification program.", "journal": "Life science alliance", "date": "2021", "authors": "Kojima Y, Yamashiro C, Murase Y, Yabuta Y, Okamoto I, Iwatani C, Tsuchiya H, Nakaya M, Tsukiyama T, Nakamura T, Yamamoto T, Saitou M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "33608411", "url": "https://glygen.org/publication/PubMed/33608411" } ] }, { "title": "Sex-Specific Isolation and Propagation of Human Premeiotic Fetal Germ Cells and Germ Cell-Like Cells.", "journal": "Cells", "date": "2021-05-16", "authors": "Mishra Swati, Taelman Jasin, Chang Yolanda W, Boel Annekatrien, De Sutter Petra, Heindryckx Bj\u00f6rn, Chuva De Sousa Lopes Susana M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "34065661", "url": "https://glygen.org/publication/PubMed/34065661" } ] }, { "title": "O-GlcNAcylation of Blimp-1 in Lymphocytes Inhibits Its Transcriptional Function and Is Associated with Migration and Invasion of Breast Cancer Cells.", "journal": "Molecular cancer research : MCR", "date": "2022", "authors": "Chen YF, Shao GC, Li J, Yang AQ, Li J, Ye XS", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O75626", "url": "https://oglcnac.org/atlas/detail/O75626" } ], "reference": [ { "type": "PubMed", "id": "34907035", "url": "https://glygen.org/publication/PubMed/34907035" } ] }, { "title": "Sequential enhancer state remodelling defines human germline competence and specification.", "journal": "Nature cell biology", "date": "2022-04", "authors": "Tang Walfred W C, Castillo-Venzor Aracely, Gruhn Wolfram H, Kobayashi Toshihiro, Penfold Christopher A, Morgan Michael D, Sun Dawei, Irie Naoko, Surani M Azim", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "35411086", "url": "https://glygen.org/publication/PubMed/35411086" } ] }, { "title": "Regulatory network of BLIMP1, IRF4, and XBP1 triad in plasmacytic differentiation and multiple myeloma pathogenesis.", "journal": "Cellular immunology", "date": "2022", "authors": "Tang TF, Chan YT, Cheong HC, Cheok YY, Anuar NA, Looi CY, Gan GG, Wong WF", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" } ], "reference": [ { "type": "PubMed", "id": "36081178", "url": "https://glygen.org/publication/PubMed/36081178" } ] }, { "title": "BLIMP1 and NR4A3 transcription factors reciprocally regulate antitumor CAR T cell stemness and exhaustion.", "journal": "Science translational medicine", "date": "2022-11-09", "authors": "Jung In-Young, Narayan Vivek, McDonald Sierra, Rech Andrew J, Bartoszek Robert, Hong Gwanui, Davis Megan M, Xu Jun, Boesteanu Alina C, Barber-Rotenberg Julie S, Plesa Gabriela, Lacey Simon F, Jadlowsky Julie K, Siegel Donald L, Hammill Dana M, Cho-Park Park F, Berger Shelley L, Haas Naomi B, Fraietta Joseph A", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" } ], "reference": [ { "type": "PubMed", "id": "36350986", "url": "https://glygen.org/publication/PubMed/36350986" } ] }, { "title": "The role of PRDM1 gene polymorphism in progression of Hepatocellular carcinoma in Egyptians patients.", "journal": "Journal of medical virology", "date": "2022-11-24", "authors": "Mohamed Amal Ahmed, Esmail Omnia Ezzat, Ibrahim Aya Mohamed Ahmed, Makled Sahar, Al-Hussain Eman, Elsaid Ali, Alboraie Mohamed, El-Awady Rehab R", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" } ], "reference": [ { "type": "PubMed", "id": "36424348", "url": "https://glygen.org/publication/PubMed/36424348" } ] }, { "title": "Exploring the putative role of PRDM1 and PRDM2 transcripts as mediators of T lymphocyte activation.", "journal": "Journal of translational medicine", "date": "2023-03-24", "authors": "Di Zazzo Erika, Rienzo Monica, Casamassimi Amelia, De Rosa Caterina, Medici Nicola, Gazzerro Patrizia, Bifulco Maurizio, Abbondanza Ciro", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" } ], "reference": [ { "type": "PubMed", "id": "36964555", "url": "https://glygen.org/publication/PubMed/36964555" } ] }, { "title": "Pro-Inflammatory of PRDM1/SIRT2/NLRP3 Axis in Monosodium Urate-Induced Acute Gouty Arthritis.", "journal": "Journal of innate immunity", "date": "2023", "authors": "Zhao Qingsong, Xia Nan, Xu Jinmei, Wang Yingnan, Feng Luwen, Su Dihan, Cheng Zhifeng", "evidence": [ { "database": "RefSeq", "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189" } ], "reference": [ { "type": "PubMed", "id": "37385228", "url": "https://glygen.org/publication/PubMed/37385228" } ] }, { "title": "p53 oligomerization and DNA looping are linked with transcriptional activation.", "journal": "The EMBO journal", "date": "1994", "authors": "Stenger JE, Tegtmeyer P, Mayr GA, Reed M, Wang Y, Wang P, Hough PV, Mastrangelo IA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "7813439", "url": "https://glygen.org/publication/PubMed/7813439" } ] }, { "title": "The dihedral symmetry of the p53 tetramerization domain mandates a conformational switch upon DNA binding.", "journal": "The EMBO journal", "date": "1995", "authors": "Waterman JL, Shenk JL, Halazonetis TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "7859740", "url": "https://glygen.org/publication/PubMed/7859740" } ] }, { "title": "Crystal structure of the tetramerization domain of the p53 tumor suppressor at 1.7 angstroms.", "journal": "Science (New York, N.Y.)", "date": "1995", "authors": "Jeffrey PD, Gorina S, Pavletich NP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "7878469", "url": "https://glygen.org/publication/PubMed/7878469" } ] }, { "title": "Interaction of p53 with its consensus DNA-binding site.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Wang Y, Schwedes JF, Parks D, Mann K, Tegtmeyer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754" } ], "reference": [ { "type": "PubMed", "id": "7891710", "url": "https://glygen.org/publication/PubMed/7891710" } ] } ], "pathway": [ { "id": "hsa:639", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:639", "resource": "KEGG Pathway" }, { "id": "R-HSA-6804754", "name": "Regulation of TP53 Expression", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804754", "resource": "Reactome", "description": "Regulation of TP53 Expression" }, { "id": "R-HSA-9701898", "name": "STAT3 nuclear events downstream of ALK signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701898", "resource": "Reactome", "description": "STAT3 nuclear events downstream of ALK signaling" }, { "id": "R-HSA-9827857", "name": "Specification of primordial germ cells", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857", "resource": "Reactome", "description": "Specification of primordial germ cells" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A1S2-1", "protein_name": "PR domain zinc finger protein 1", "gene_name": "Prdm1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLDLLLEKRVGTTLAAPKCNSGSVKFQGLAETSGIMKMDMEDADMTLWTEAEFEEKCTYIVNDHPWDSSADGGTSVQAEASLPRNLLFKYAANNSKEVIGVVSKEYIPKGTRFGPLIGEVYTNDTVPKNANRKYFWRIYSREEFHHFIDGFNEEKSNWMRYVNPAHSAREQNLAACQNGMNIYFYTIKPIPANQELLVWYCRDFAERLHYPYPGELTVMNLTQTESNPKQYSSEKNELYPKSVPKREYSVKEILKLDSNPSKRKDSYRSNISPYTSEKDMDGFRKNGSPDMPFYPRVVYPIRAPLPEDFLKASLAYGMERPTYITHSPLPSSTTPSPPASSSPEQSLKSASPHGSPGNTVSPVVPGPPEHRDSYSYLNVSYGSEGLGSYPGYAPAPHLPPAFIPSYNAHYPKFLLPPYGISSNGLSTMNNINGINNFSLFPRLYPVYSNLLSGGNLPHPMLNPASLPSSLPTDGARRLLPPEHPREVLVPAPHSAFSLTGAAASMKDESSPPSGSPTAGTAATSEHVVQPKATSSVMAAPSTDGAMNLIKNKRNMTGYKTLPYPLKKQNGKIKYECNVCAKTFGQLSNLKVHLRVHSGERPFKCQTCNKGFTQLAHLQKHYLVHTGEKPHECQVCHKRFSSTSNLKTHLRLHSGEKPYQCKVCPAKFTQFVHLKLHKRLHTRDRPHKCAQCHKSYIHLCSLKVHLKGNCPVVPAPGLPLEDLTRINEEIERFDLSDNADRLEDMEDSVDVTSMVEKEILAIVRKEKEETGLKMSLQKTMGSRLPSSGCSLYESSDLSLMKLPHSNSLPLVPVKVKQETVEPMDP", "length": 824 }, "evidence": [ { "id": "45918143", "url": "http://www.informatics.jax.org/homology/45918143", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q60636-1", "protein_name": "PR domain zinc finger protein 1", "gene_name": "Prdm1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MREAYLRCWIFSWKNVWVRPCQRLHFKTVLLQGSLLYTALDSYSTVQAAPKSSSGSVKFQGLAETGIMKMDMEDADMTLWTEAEFEEKCTYIVNDHPWDSGADGGTSVQAEASLPRNLLFKYAANNSKEVIGVVSKEYIPKGTRFGPLIGEVYTNDTVPKNANRKYFWRIYSREEFHHFIDGFNEEKSNWMRYVNPAHSAREQNLAACQNGMNIYFYTIKPIPANQELLVWYCRDFAERLHYPYPGELTVINLTQTESNPKQYSSEKNELYPKSVPKREYSVKEILKLDSNPSKRKDIYRSNISPFTLEKDMDGFRKNGSPDMPFYPRVVYPIRAPLPEDFLKASLAYGMERPTYITHSPLPSSTTPSPPASSSPEQSLKSSSPHSSPGNTVSPLAPGLPEHRDSYSYLNVSYGSEGLGSYPGYAPAPHLPPAFIPSYNAHYPKFLLPPYGISSNGLSTMNNINGINNFSLFPRLYPVYSNLLSGSSLPHPMLNPASLPSSLPTDGARRLLPPEHPKEVLIPAPHSAFSLTGAAASMKDESSPPSGSPTAGTAATSEHVVQPKATSSVMAAPSTDGAMNLIKNKRNMTGYKTLPYPLKKQNGKIKYECNVCAKTFGQLSNLKVHLRVHSGERPFKCQTCNKGFTQLAHLQKHYLVHTGEKPHECQVCHKRFSSTSNLKTHLRLHSGEKPYQCKVCPAKFTQFVHLKLHKRLHTRERPHKCAQCHKSYIHLCSLKVHLKGNCPAGPAAGLPLEDLTRINEEIERFDISDNADRLEDMEDSVDVTSMVEKEILAVVRKEKEETSLKVSLQRNMGNGLLSSGCSLYESSDLSLMKLPHSNPLPLVPVKVKQETVEPMDP", "length": 856 }, "evidence": [ { "id": "45918143", "url": "http://www.informatics.jax.org/homology/45918143", "database": "MGI" }, { "id": "O75626", "url": "https://omabrowser.org/oma/group/O75626/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 28, "go_terms": [ { "name": "heart valve development", "id": "GO:0003170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003170", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "regulation of natural killer cell differentiation", "id": "GO:0032823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032823", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "regulation of extrathymic T cell differentiation", "id": "GO:0033082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033082", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "regulation of NK T cell differentiation", "id": "GO:0051136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051136", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "sebum secreting cell proliferation", "id": "GO:1990654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990654", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "maternal placenta development", "id": "GO:0001893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001893", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "morphogenesis of a branching structure", "id": "GO:0001763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001763", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "trophoblast giant cell differentiation", "id": "GO:0060707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060707", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "intestinal epithelial cell development", "id": "GO:0060576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060576", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "retinal bipolar neuron differentiation", "id": "GO:0060040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060040", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "histone methyltransferase binding", "id": "GO:1990226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990226", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 123, "end_pos": 125, "annotation": "n_glycosylation_sequon" }, { "start_pos": 20, "end_pos": 22, "annotation": "n_glycosylation_sequon" }, { "start_pos": 220, "end_pos": 222, "annotation": "n_glycosylation_sequon" }, { "start_pos": 270, "end_pos": 272, "annotation": "n_glycosylation_sequon" }, { "start_pos": 378, "end_pos": 380, "annotation": "n_glycosylation_sequon" }, { "start_pos": 555, "end_pos": 557, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Sumoylation at Lys-816 by PIAS1 augments transcriptional repressor activity, and is critical for plasma cell differentiation (PubMed:22555612). Can be sumoylated with SUMO1 and SUMO2 by PML. Degradation of the wild-type protein mostly depends upon sumoylation, rather than ubiquitination (PubMed:28842558). Desumoylated by SENP1 and SENP6 (PubMed:28842558).", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" }, { "database": "PubMed", "id": "22555612", "url": "https://glygen.org/publication/PubMed/22555612" }, { "database": "PubMed", "id": "28842558", "url": "https://glygen.org/publication/PubMed/28842558" } ] }, { "annotation": "Ubiquitinated by the SCF(FBXO11) complex, leading to its degradation by the proteasome.", "evidence": [ { "database": "UniProtKB", "id": "O75626", "url": "https://www.uniprot.org/uniprot/O75626" }, { "database": "PubMed", "id": "24613396", "url": "https://glygen.org/publication/PubMed/24613396" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-6804188", "name": "PRDM1 represses TP53 expression", "equation": "", "summary": "Binding of PRDM1 (BLIMP1) to the promoter region of the TP53 (p53) gene inhibits TP53 transcription (Yan et al. 2007) probably by inducing repressive methylation of the TP53 promoter (Weige et al. 2014).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-6797244" ], "output_participant_list": [ "R-HSA-69488" ], "enzyme_list": [ "O75626-1" ], "evidence": [ { "id": "R-HSA-6804188", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804188" } ] }, { "id": "R-HSA-6804193", "name": "TP53 stimulates PRDM1 expression", "equation": "", "summary": "Binding of TP53 (p53) to the p53 response element in the third intron of the PRDM1 (BLIMP1) gene stimulates BLIMP1 transcription (Yan et al. 2007).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-6804192" ], "output_participant_list": [ "R-HSA-6804199" ], "enzyme_list": [ "O75626-1" ], "evidence": [ { "id": "R-HSA-6804193", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804193" } ] }, { "id": "R-HSA-6804194", "name": "PRDM1 binds the TP53 gene", "equation": "", "summary": "PRDM1 (BLIMP1) zinc finger transcription factor binds in vicinity of the transcription start site of the TP53 (p53) gene (Yan et al. 2007).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75626-1" ], "evidence": [ { "id": "R-HSA-6804194", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804194" } ] }, { "id": "R-HSA-9701548", "name": "PRDM1 gene expression downstream of ALK signaling", "equation": "", "summary": "PRDM1 gene expression is repressed by a complex of SIN3A and acetylated, phosphorylated STAT3 dimer downstream of ALK signaling (Gambi et al, 2019). The PRDM1 gene encodes a transcription factor that regulates expression of genes involved in growth inhibition, apoptosis and cell cycle arrest, and PRDM1 has been identified as a tumor suppressor gene in anaplastic large cell lymphoma (ALCL) (Boi et al, 2013; reviewed in Boi et al, 2015).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75626-1" ], "evidence": [ { "id": "R-HSA-9701548", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9701548" } ] }, { "id": "R-HSA-9827872", "name": "Expression of PRDM1 in primordial germ cells", "equation": "", "summary": "PR domain zinc finger protein 1 (PRDM1, also called BLIMP1) is expressed during specification of human PGCs in vitro (Irie et al. 2015, Sasaki et al. 2015, Kojima et al. 2017, Fang et al. 2020, Kojima et al. 2021, Tang et al. 2022). Expression of SOX17 precedes expression of PRDM1 (Irie et al. 2015). TFAP2C also acts upstream of PRDM1, unlike the case in mice (Kojima et al. 2017). SOX17 and TFAP2C bind the PRDM1 gene and activate expression during specification of PGCs in vitro (Kojima et al. 2017, Tang et al. 2022). PRDM1 functions primarily as a transcription repressor to repress somatically expressed genes (Irie et al. 2015, Sasaki et al. 2015, Tang et al. 2022).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-9827876" ], "output_participant_list": [], "enzyme_list": [ "O75626-1" ], "evidence": [ { "id": "R-HSA-9827872", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827872" } ] }, { "id": "R-HSA-9827995", "name": "Expression of NANOS3 in primordial germ cells", "equation": "", "summary": "NANOS3, an RNA binding protein, is expressed during differentiation of primordial germ cells (PGCs) in vitro (Irie et al. 2015, Fang et al. 2020, Tang et al. 2022). Expression of NANOS3 coincides with expression of NANOG, POU5F1 (OCT4), and TFAP2C (Irie et al. 2015). SOX17 (Irie et al. 2015, Kojima et al. 2021, Tang et al. 2022), TFAP2C (Kojima et al. 2021, Tang et al. 2022), and PRDM1 (Tang et al. 2022, Irie et al. 2022) directly activate expression of NANOS3 in PGCs differentiated in vitro. SOX17 is required to maintain expression of NANOS3 (Kojima et al. 2017). Reduced expression of NANOS3 in human embryonic stem cells is associated with fewer numbers of germ cells and reduced expression of germline genes during differentiation in vitro (Julaton et al. 2011). In mice, Nanos3 is required for migration of germ cells to the genital ridge (Tsuda et al. 2003).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-9828019" ], "output_participant_list": [ "R-HSA-9828026" ], "enzyme_list": [ "O75626-1" ], "evidence": [ { "id": "R-HSA-9827995", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827995" } ] }, { "id": "R-HSA-9828027", "name": "SOX17, TFAP2C, and PRDM1 (BLIMP1) bind the NANOS3 gene", "equation": "", "summary": "SOX17, TFAP2C, and PRDM1 (also called BLIMP1) are expressed during initial differentiation of human primordial germ cells in vitro, bind upstream of the transcription start site of the NANOS3 gene, and activate expression of NANOS3 (Tang et al. 2022). TFAP2C and PRDM1 also bind near the last exon of the NANOS3 gene (Tang et al. 2022). In mice, Nanos3 encodes an RNA-binding protein the function of which is required for migration of germ cells to the genital ridge (Tsuda et al. 2003).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75626-1" ], "evidence": [ { "id": "R-HSA-9828027", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9828027" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-6797244", "participant_name": "TP53 gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000141510", "database": "ENSEMBL", "url": "" } ] }, { "participant_id": "R-HSA-6804192", "participant_name": "PRDM1 Gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000057657", "database": "ENSEMBL", "url": "" } ] }, { "participant_id": "R-HSA-6804199", "participant_name": "PRDM1 [nucleoplasm]", "crossref": [ { "id": "ENSP00000498716", "database": "Ensembl", "url": "" }, { "id": "ENSP00000358087", "database": "Ensembl", "url": "" }, { "id": "XP_011534365.1", "database": "RefSeq", "url": "" }, { "id": "O75626", "database": "PRO", "url": "" }, { "id": "O75626", "database": "Pharos - Targets", "url": "" }, { "id": "NP_878911.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000369089", "database": "Ensembl", "url": "" }, { "id": "XP_016866676.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000057657", "database": "OpenTargets", "url": "" }, { "id": "ENST00000369096", "database": "Ensembl", "url": "" }, { "id": "ENST00000651185", "database": "Ensembl", "url": "" }, { "id": "O75626", "database": "UniProt", "url": "" }, { "id": "ENST00000369091", "database": "Ensembl", "url": "" }, { "id": "ENST00000652320", "database": "Ensembl", "url": "" }, { "id": "24823", "database": "Orphanet", "url": "" }, { "id": "ENSG00000057657-PRDM1", "database": "HPA", "url": "" }, { "id": "ENSP00000358085", "database": "Ensembl", "url": "" }, { "id": "ENSP00000498580", "database": "Ensembl", "url": "" }, { "id": "ENSG00000057657", "database": "Ensembl", "url": "" }, { "id": "NP_001189.2", "database": "RefSeq", "url": "" }, { "id": "3DAL", "database": "PDB", "url": "" }, { "id": "ENSP00000358092", "database": "Ensembl", "url": "" }, { "id": "O75626", "database": "GeneCards", "url": "" } ] }, { "participant_id": "R-HSA-69488", "participant_name": "TP53 [nucleoplasm]", "crossref": [ { "id": "5AB9", "database": "PDB", "url": "" }, { "id": "6SLV", "database": "PDB", "url": "" }, { "id": "5AOK", "database": "PDB", "url": "" }, { "id": "2RUK", "database": "PDB", "url": "" }, { "id": "2PCX", "database": "PDB", "url": "" }, { "id": "6SL6", "database": "PDB", "url": "" }, { "id": "5AOJ", "database": "PDB", "url": "" }, { "id": "6SIQ", "database": "PDB", "url": "" }, { "id": "5AOM", "database": "PDB", "url": "" }, { "id": "6V4F", "database": "PDB", "url": "" }, { "id": "2WGX", "database": "PDB", "url": "" }, { "id": "6T58", "database": "PDB", "url": "" }, { "id": "5AOL", "database": "PDB", "url": "" }, { "id": "2VUK", "database": "PDB", "url": "" }, { "id": "5ECG", "database": "PDB", "url": "" }, { "id": "6VQO", "database": "PDB", "url": "" }, { "id": "2X0V", "database": "PDB", "url": "" }, { "id": "2X0U", "database": "PDB", "url": "" }, { "id": "5BUA", "database": "PDB", "url": "" }, { "id": "6V4H", "database": "PDB", "url": "" }, { "id": "6S40", "database": "PDB", "url": "" }, { "id": "2J21", "database": "PDB", "url": "" }, { "id": "P53_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "4MZR", "database": "PDB", "url": "" }, { "id": "2J20", "database": "PDB", "url": "" }, { "id": "4MZI", "database": "PDB", "url": "" }, { "id": "6S3C", "database": "PDB", "url": "" }, { "id": "P04637", "database": "PRO", "url": "" }, { "id": "6SHZ", "database": "PDB", "url": "" }, { "id": "4RP6", "database": "PDB", "url": "" }, { "id": "2L14", "database": "PDB", "url": "" }, { "id": "2K8F", "database": "PDB", "url": "" }, { "id": "6S9Q", "database": "PDB", "url": "" }, { "id": "4QO1", "database": "PDB", "url": "" }, { "id": "4XR8", "database": "PDB", "url": "" }, { "id": "2MEJ", "database": "PDB", "url": "" }, { "id": "6SI2", "database": "PDB", "url": "" }, { "id": "4X34", "database": "PDB", "url": "" }, { "id": "6SI0", "database": "PDB", "url": "" }, { "id": "4RP7", "database": "PDB", "url": "" }, { "id": "2LY4", "database": "PDB", "url": "" }, { "id": "6SI1", "database": "PDB", "url": "" }, { "id": "P04637", "database": "ZINC target", "url": "" }, { "id": "6SIN", "database": "PDB", "url": "" }, { "id": "2MWY", "database": "PDB", "url": "" }, { "id": "6SI4", "database": "PDB", "url": "" }, { "id": "5A7B", "database": "PDB", "url": "" }, { "id": "2MWP", "database": "PDB", "url": "" }, { "id": "2MWO", "database": "PDB", "url": "" }, { "id": "6SI3", "database": "PDB", "url": "" }, { "id": "4ZZJ", "database": "PDB", "url": "" }, { "id": "1OLH", "database": "PDB", "url": "" }, { "id": "1OLG", "database": "PDB", "url": "" }, { "id": "7B49", "database": "PDB", "url": "" }, { "id": "5MCV", "database": "PDB", "url": "" }, { "id": "3D08", "database": "PDB", "url": "" }, { "id": "5MCU", "database": "PDB", "url": "" }, { "id": "1MA3", "database": "PDB", "url": "" }, { "id": "3D07", "database": "PDB", "url": "" }, { "id": "7B48", "database": "PDB", "url": "" }, { "id": "5MG7", "database": "PDB", "url": "" }, { "id": "7B4C", "database": "PDB", "url": "" }, { "id": "3DAB", "database": "PDB", "url": "" }, { "id": "1PET", "database": "PDB", "url": "" }, { "id": "7B4B", "database": "PDB", "url": "" }, { "id": "5MF7", "database": "PDB", "url": "" }, { "id": "3D0A", "database": "PDB", "url": "" }, { "id": "1PES", "database": "PDB", "url": "" }, { "id": "5MCW", "database": "PDB", "url": "" }, { "id": "3D09", "database": "PDB", "url": "" }, { "id": "7B4A", "database": "PDB", "url": "" }, { "id": "3IGK", "database": "PDB", "url": "" }, { "id": "1SAF", "database": "PDB", "url": "" }, { "id": "7B4E", "database": "PDB", "url": "" }, { "id": "5MOC", "database": "PDB", "url": "" }, { "id": "7B4D", "database": "PDB", "url": "" }, { "id": "5MHC", "database": "PDB", "url": "" }, { "id": "3DAC", "database": "PDB", "url": "" }, { "id": "1SAE", "database": "PDB", "url": "" }, { "id": "5O1B", "database": "PDB", "url": "" }, { "id": "7B4G", "database": "PDB", "url": "" }, { "id": "3KMD", "database": "PDB", "url": "" }, { "id": "1SAL", "database": "PDB", "url": "" }, { "id": "3IGL", "database": "PDB", "url": "" }, { "id": "1SAK", "database": "PDB", "url": "" }, { "id": "7B4F", "database": "PDB", "url": "" }, { "id": "5O1A", "database": "PDB", "url": "" }, { "id": "2XWR", "database": "PDB", "url": "" }, { "id": "1AIE", "database": "PDB", "url": "" }, { "id": "5G4N", "database": "PDB", "url": "" }, { "id": "6VR5", "database": "PDB", "url": "" }, { "id": "5G4M", "database": "PDB", "url": "" }, { "id": "6VR1", "database": "PDB", "url": "" }, { "id": "2X0W", "database": "PDB", "url": "" }, { "id": "1A1U", "database": "PDB", "url": "" }, { "id": "1GZH", "database": "PDB", "url": "" }, { "id": "5HP0", "database": "PDB", "url": "" }, { "id": "6VRN", "database": "PDB", "url": "" }, { "id": "2YDR", "database": "PDB", "url": "" }, { "id": "1DT7", "database": "PDB", "url": "" }, { "id": "5HOU", "database": "PDB", "url": "" }, { "id": "1C26", "database": "PDB", "url": "" }, { "id": "5G4O", "database": "PDB", "url": "" }, { "id": "6VRM", "database": "PDB", "url": "" }, { "id": "2YBG", "database": "PDB", "url": "" }, { "id": "1HS5", "database": "PDB", "url": "" }, { "id": "5LAP", "database": "PDB", "url": "" }, { "id": "6ZNC", "database": "PDB", "url": "" }, { "id": "2Z5T", "database": "PDB", "url": "" }, { "id": "1H26", "database": "PDB", "url": "" }, { "id": "5HPD", "database": "PDB", "url": "" }, { "id": "6XRE", "database": "PDB", "url": "" }, { "id": "6W51", "database": "PDB", "url": "" }, { "id": "2Z5S", "database": "PDB", "url": "" }, { "id": "7B47", "database": "PDB", "url": "" }, { "id": "3D06", "database": "PDB", "url": "" }, { "id": "5MCT", "database": "PDB", "url": "" }, { "id": "1KZY", "database": "PDB", "url": "" }, { "id": "7B46", "database": "PDB", "url": "" }, { "id": "3D05", "database": "PDB", "url": "" }, { "id": "1JSP", "database": "PDB", "url": "" }, { "id": "P53_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "5LGY", "database": "PDB", "url": "" }, { "id": "6FJ5", "database": "PDB", "url": "" }, { "id": "2ATA", "database": "PDB", "url": "" }, { "id": "NP_001119586.1", "database": "RefSeq", "url": "" }, { "id": "NP_001119585.1", "database": "RefSeq", "url": "" }, { "id": "7RM4", "database": "PDB", "url": "" }, { "id": "3ZME", "database": "PDB", "url": "" }, { "id": "2AHI", "database": "PDB", "url": "" }, { "id": "7NMI", "database": "PDB", "url": "" }, { "id": "6FF9", "database": "PDB", "url": "" }, { "id": "3TS8", "database": "PDB", "url": "" }, { "id": "2ADY", "database": "PDB", "url": "" }, { "id": "4AGN", "database": "PDB", "url": "" }, { "id": "NP_001119589.1", "database": "RefSeq", "url": "" }, { "id": "2BIM", "database": "PDB", "url": "" }, { "id": "NP_001119588.1", "database": "RefSeq", "url": "" }, { "id": "7XZX", "database": "PDB", "url": "" }, { "id": "4AGM", "database": "PDB", "url": "" }, { "id": "2B3G", "database": "PDB", "url": "" }, { "id": "NP_001119587.1", "database": "RefSeq", "url": "" }, { "id": "6GGB", "database": "PDB", "url": "" }, { "id": "ENSG00000141510-TP53", "database": "HPA", "url": "" }, { "id": "6GGA", "database": "PDB", "url": "" }, { "id": "7V97", "database": "PDB", "url": "" }, { "id": "4AGL", "database": "PDB", "url": "" }, { "id": "8A31", "database": "PDB", "url": "" }, { "id": "2BIO", "database": "PDB", "url": "" }, { "id": "4AGP", "database": "PDB", "url": "" }, { "id": "6GGD", "database": "PDB", "url": "" }, { "id": "4AGO", "database": "PDB", "url": "" }, { "id": "NP_001263624.1", "database": "RefSeq", "url": "" }, { "id": "NP_001119590.1", "database": "RefSeq", "url": "" }, { "id": "7YGI", "database": "PDB", "url": "" }, { "id": "2BIN", "database": "PDB", "url": "" }, { "id": "7XZZ", "database": "PDB", "url": "" }, { "id": "6GGC", "database": "PDB", "url": "" }, { "id": "8A92", "database": "PDB", "url": "" }, { "id": "4BUZ", "database": "PDB", "url": "" }, { "id": "2F1X", "database": "PDB", "url": "" }, { "id": "8A32", "database": "PDB", "url": "" }, { "id": "2BIQ", "database": "PDB", "url": "" }, { "id": "2BIP", "database": "PDB", "url": "" }, { "id": "6GGF", "database": "PDB", "url": "" }, { "id": "4AGQ", "database": "PDB", "url": "" }, { "id": "NP_001263626.1", "database": "RefSeq", "url": "" }, { "id": "6GGE", "database": "PDB", "url": "" }, { "id": "NP_001263625.1", "database": "RefSeq", "url": "" }, { "id": "5O1E", "database": "PDB", "url": "" }, { "id": "7B4N", "database": "PDB", "url": "" }, { "id": "3LW1", "database": "PDB", "url": "" }, { "id": "1TUP", "database": "PDB", "url": "" }, { "id": "1TSR", "database": "PDB", "url": "" }, { "id": "5O1D", "database": "PDB", "url": "" }, { "id": "5O1C", "database": "PDB", "url": "" }, { "id": "7B4H", "database": "PDB", "url": "" }, { "id": "3KZ8", "database": "PDB", "url": "" }, { "id": "5O1G", "database": "PDB", "url": "" }, { "id": "7DHZ", "database": "PDB", "url": "" }, { "id": "3Q01", "database": "PDB", "url": "" }, { "id": "1XQH", "database": "PDB", "url": "" }, { "id": "ENSG00000141510", "database": "OpenTargets", "url": "" }, { "id": "5O1F", "database": "PDB", "url": "" }, { "id": "7DHY", "database": "PDB", "url": "" }, { "id": "3PDH", "database": "PDB", "url": "" }, { "id": "7BWN", "database": "PDB", "url": "" }, { "id": "3OQ5", "database": "PDB", "url": "" }, { "id": "1UOL", "database": "PDB", "url": "" }, { "id": "3Q06", "database": "PDB", "url": "" }, { "id": "1YCR", "database": "PDB", "url": "" }, { "id": "7EAX", "database": "PDB", "url": "" }, { "id": "5O1I", "database": "PDB", "url": "" }, { "id": "3Q05", "database": "PDB", "url": "" }, { "id": "1YCQ", "database": "PDB", "url": "" }, { "id": "15644", "database": "Orphanet", "url": "" }, { "id": "1YC5", "database": "PDB", "url": "" }, { "id": "5O1H", "database": "PDB", "url": "" }, { "id": "7DVD", "database": "PDB", "url": "" }, { "id": "2AC0", "database": "PDB", "url": "" }, { "id": "3TG5", "database": "PDB", "url": "" }, { "id": "NP_001119584.1", "database": "RefSeq", "url": "" }, { "id": "5XZC", "database": "PDB", "url": "" }, { "id": "7EL4", "database": "PDB", "url": "" }, { "id": "NP_000537.3", "database": "RefSeq", "url": "" }, { "id": "5UN8", "database": "PDB", "url": "" }, { "id": "1YCS", "database": "PDB", "url": "" }, { "id": "3SAK", "database": "PDB", "url": "" }, { "id": "7EEU", "database": "PDB", "url": "" }, { "id": "5OL0", "database": "PDB", "url": "" }, { "id": "7EDS", "database": "PDB", "url": "" }, { "id": "4IBY", "database": "PDB", "url": "" }, { "id": "6RM7", "database": "PDB", "url": "" }, { "id": "6RM5", "database": "PDB", "url": "" }, { "id": "ENST00000622645", "database": "Ensembl", "url": "" }, { "id": "2H59", "database": "PDB", "url": "" }, { "id": "ENSP00000478219", "database": "Ensembl", "url": "" }, { "id": "4IBW", "database": "PDB", "url": "" }, { "id": "6RL6", "database": "PDB", "url": "" }, { "id": "2H4J", "database": "PDB", "url": "" }, { "id": "6RWI", "database": "PDB", "url": "" }, { "id": "4IJT", "database": "PDB", "url": "" }, { "id": "2J10", "database": "PDB", "url": "" }, { "id": "6RWH", "database": "PDB", "url": "" }, { "id": "4IBZ", "database": "PDB", "url": "" }, { "id": "2J0Z", "database": "PDB", "url": "" }, { "id": "4LO9", "database": "PDB", "url": "" }, { "id": "2J1X", "database": "PDB", "url": "" }, { "id": "2J1W", "database": "PDB", "url": "" }, { "id": "6RWU", "database": "PDB", "url": "" }, { "id": "4KVP", "database": "PDB", "url": "" }, { "id": "2J11", "database": "PDB", "url": "" }, { "id": "6RWS", "database": "PDB", "url": "" }, { "id": "2J1Z", "database": "PDB", "url": "" }, { "id": "4LOF", "database": "PDB", "url": "" }, { "id": "6S39", "database": "PDB", "url": "" }, { "id": "P04637", "database": "Pharos - Targets", "url": "" }, { "id": "6RZ3", "database": "PDB", "url": "" }, { "id": "2J1Y", "database": "PDB", "url": "" }, { "id": "4LOE", "database": "PDB", "url": "" }, { "id": "6RX2", "database": "PDB", "url": "" }, { "id": "4HFZ", "database": "PDB", "url": "" }, { "id": "8DC7", "database": "PDB", "url": "" }, { "id": "2FOJ", "database": "PDB", "url": "" }, { "id": "8DC6", "database": "PDB", "url": "" }, { "id": "6R5L", "database": "PDB", "url": "" }, { "id": "4BV2", "database": "PDB", "url": "" }, { "id": "NP_001263689.1", "database": "RefSeq", "url": "" }, { "id": "6LHD", "database": "PDB", "url": "" }, { "id": "NP_001263628.1", "database": "RefSeq", "url": "" }, { "id": "2FEJ", "database": "PDB", "url": "" }, { "id": "NP_001263627.1", "database": "RefSeq", "url": "" }, { "id": "8DC4", "database": "PDB", "url": "" }, { "id": "6RKI", "database": "PDB", "url": "" }, { "id": "2H1L", "database": "PDB", "url": "" }, { "id": "8E7A", "database": "PDB", "url": "" }, { "id": "4IBQ", "database": "PDB", "url": "" }, { "id": "8DC8", "database": "PDB", "url": "" }, { "id": "4HJE", "database": "PDB", "url": "" }, { "id": "2GS0", "database": "PDB", "url": "" }, { "id": "6RK8", "database": "PDB", "url": "" }, { "id": "2FOO", "database": "PDB", "url": "" }, { "id": "6RJZ", "database": "PDB", "url": "" }, { "id": "NP_001263690.1", "database": "RefSeq", "url": "" }, { "id": "6RKM", "database": "PDB", "url": "" }, { "id": "2H2F", "database": "PDB", "url": "" }, { "id": "8F2I", "database": "PDB", "url": "" }, { "id": "4IBT", "database": "PDB", "url": "" }, { "id": "ENST00000269305", "database": "Ensembl", "url": "" }, { "id": "6RKK", "database": "PDB", "url": "" }, { "id": "2H2D", "database": "PDB", "url": "" }, { "id": "ENST00000420246", "database": "Ensembl", "url": "" }, { "id": "ENSP00000481638", "database": "Ensembl", "url": "" }, { "id": "P04637", "database": "GeneCards", "url": "" }, { "id": "8F2H", "database": "PDB", "url": "" }, { "id": "ENST00000445888", "database": "Ensembl", "url": "" }, { "id": "ENSP00000480868", "database": "Ensembl", "url": "" }, { "id": "ENSP00000391478", "database": "Ensembl", "url": "" }, { "id": "8E7B", "database": "PDB", "url": "" }, { "id": "ENST00000610538", "database": "Ensembl", "url": "" }, { "id": "4IBS", "database": "PDB", "url": "" }, { "id": "ENST00000504290", "database": "Ensembl", "url": "" }, { "id": "4IBU", "database": "PDB", "url": "" }, { "id": "6RL3", "database": "PDB", "url": "" }, { "id": "ENSP00000391127", "database": "Ensembl", "url": "" }, { "id": "ENST00000504937", "database": "Ensembl", "url": "" }, { "id": "ENSP00000482537", "database": "Ensembl", "url": "" }, { "id": "ENST00000610292", "database": "Ensembl", "url": "" }, { "id": "ENSP00000269305", "database": "Ensembl", "url": "" }, { "id": "ENST00000619485", "database": "Ensembl", "url": "" }, { "id": "2H4F", "database": "PDB", "url": "" }, { "id": "ENSP00000478499", "database": "Ensembl", "url": "" }, { "id": "ENSP00000484409", "database": "Ensembl", "url": "" }, { "id": "6RL4", "database": "PDB", "url": "" }, { "id": "ENSP00000398846", "database": "Ensembl", "url": "" }, { "id": "ENSP00000481179", "database": "Ensembl", "url": "" }, { "id": "ENSP00000482222", "database": "Ensembl", "url": "" }, { "id": "4IBV", "database": "PDB", "url": "" }, { "id": "ENST00000620739", "database": "Ensembl", "url": "" }, { "id": "ENST00000510385", "database": "Ensembl", "url": "" }, { "id": "ENST00000455263", "database": "Ensembl", "url": "" }, { "id": "2H4H", "database": "PDB", "url": "" }, { "id": "ENSG00000141510", "database": "Ensembl", "url": "" }, { "id": "5ABA", "database": "PDB", "url": "" }, { "id": "5AOI", "database": "PDB", "url": "" }, { "id": "6SIO", "database": "PDB", "url": "" }, { "id": "2MZD", "database": "PDB", "url": "" }, { "id": "2OCJ", "database": "PDB", "url": "" }, { "id": "P04637", "database": "UniProt", "url": "" }, { "id": "6SIP", "database": "PDB", "url": "" } ] }, { "participant_id": "R-HSA-9827876", "participant_name": "PRDM1 gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000057657", "database": "ENSEMBL", "url": "" } ] }, { "participant_id": "R-HSA-9828019", "participant_name": "NANOS3 gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000187556", "database": "ENSEMBL", "url": "" } ] }, { "participant_id": "R-HSA-9828026", "participant_name": "NANOS3 [nucleoplasm]", "crossref": [ { "id": "ENST00000673200", "database": "Ensembl", "url": "" }, { "id": "ENSP00000341992", "database": "Ensembl", "url": "" }, { "id": "P60323", "database": "Pharos - Targets", "url": "" }, { "id": "28254", "database": "Orphanet", "url": "" }, { "id": "NP_001092092.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000288505", "database": "Ensembl", "url": "" }, { "id": "ENST00000339133", "database": "Ensembl", "url": "" }, { "id": "P60323", "database": "UniProt", "url": "" }, { "id": "P60323", "database": "GeneCards", "url": "" }, { "id": "ENSG00000187556", "database": "OpenTargets", "url": "" }, { "id": "ENSP00000500242", "database": "Ensembl", "url": "" }, { "id": "ENSP00000380687", "database": "Ensembl", "url": "" }, { "id": "ENSP00000500080", "database": "Ensembl", "url": "" }, { "id": "P60323", "database": "PRO", "url": "" }, { "id": "ENST00000672749", "database": "Ensembl", "url": "" }, { "id": "ENSG00000187556-NANOS3", "database": "HPA", "url": "" }, { "id": "ENST00000397555", "database": "Ensembl", "url": "" }, { "id": "ENSG00000187556", "database": "Ensembl", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O75626", "gene_name": "PRDM1", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "O75626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75626" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 448, 472, 534 ], "snv_sites": [ 34, 45, 131, 260, 344, 348, 359, 463, 579, 711, 773 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 123, "end_pos": 125 }, { "start_pos": 20, "end_pos": 22 }, { "start_pos": 220, "end_pos": 222 }, { "start_pos": 270, "end_pos": 272 }, { "start_pos": 378, "end_pos": 380 }, { "start_pos": 555, "end_pos": 557 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 42 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }