{ "uniprot_canonical_ac": "O60858-1", "uniprot_ac": "O60858", "uniprot_id": "TRI13_HUMAN", "mass": { "chemical_mass": 46988.0, "monoisotopic_mass": 46988.0 }, "refseq": { "ac": "NP_001007279", "name": "E3 ubiquitin-protein ligase TRIM13 isoform 2", "summary": "This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" }, "gene_names": [ { "name": "TRIM13", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60858", "id": "O60858" }, { "name": "CAR; DLEU5; LEU5; RFP2; RNF77", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279", "id": "NP_001007279" }, { "name": "LEU5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60858", "id": "O60858" }, { "name": "RFP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60858", "id": "O60858" }, { "name": "RNF77", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60858", "id": "O60858" }, { "name": "TRIM13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279", "id": "NP_001007279" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase TRIM13", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60858" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60858" }, { "name": "B-cell chronic lymphocytic leukemia tumor suppressor Leu5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60858" }, { "name": "E3 ubiquitin-protein ligase TRIM13 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279", "id": "NP_001007279" }, { "name": "Leukemia-associated protein 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60858" }, { "name": "Putative tumor suppressor RFP2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60858" }, { "name": "RING finger protein 77", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60858" }, { "name": "RING-type E3 ubiquitin transferase TRIM13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60858" }, { "name": "Ret finger protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60858" }, { "name": "Tripartite motif-containing protein 13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60858" }, { "name": "ret finger protein 2; tripartite motif protein 13; CLL-associated RING finger; tripartite motif-containing protein 13; E3 ubiquitin-protein ligase TRIM13; RING finger protein 77; leukemia-associated protein 5; putative tumor suppressor RFP2; B-cell chronic lymphocytic leukemia tumor suppressor Leu5; RING-type E3 ubiquitin transferase TRIM13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279", "id": "NP_001007279" } ], "function": [ { "annotation": "Altered DNA methylation of TRIM13 in diabetic nephropathy suppresses mesangial collagen synthesis by promoting ubiquitination of CHOP.", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" }, { "database": "PubMed", "id": "31901873", "url": "https://glygen.org/publication/PubMed/31901873" } ] }, { "annotation": "Endoplasmic reticulum (ER) membrane anchored E3 ligase involved in the retrotranslocation and turnover of membrane and secretory proteins from the ER through a set of processes named ER-associated degradation (ERAD). This process acts on misfolded proteins as well as in the regulated degradation of correctly folded proteins. Enhances ionizing radiation-induced p53/TP53 stability and apoptosis via ubiquitinating MDM2 and AKT1 and decreasing AKT1 kinase activity through MDM2 and AKT1 proteasomal degradation. Regulates ER stress-induced autophagy, and may act as a tumor suppressor (PubMed:22178386). Also plays a role in innate immune response by stimulating NF-kappa-B activity in the TLR2 signaling pathway. Ubiquitinates TRAF6 via the 'Lys-29'-linked polyubiquitination chain resulting in NF-kappa-B activation (PubMed:28087809). Participates as well in T-cell receptor-mediated NF-kappa-B activation (PubMed:25088585). In the presence of TNF, modulates the IKK complex by regulating IKBKG/NEMO ubiquitination leading to the repression of NF-kappa-B (PubMed:25152375).", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858#function" }, { "database": "PubMed", "id": "22178386", "url": "https://glygen.org/publication/PubMed/22178386" }, { "database": "PubMed", "id": "21333377", "url": "https://glygen.org/publication/PubMed/21333377" }, { "database": "PubMed", "id": "28087809", "url": "https://glygen.org/publication/PubMed/28087809" }, { "database": "PubMed", "id": "17314412", "url": "https://glygen.org/publication/PubMed/17314412" }, { "database": "PubMed", "id": "25152375", "url": "https://glygen.org/publication/PubMed/25152375" }, { "database": "PubMed", "id": "25088585", "url": "https://glygen.org/publication/PubMed/25088585" } ] }, { "annotation": "Results from bioinformatics analysis suggest that Tripartite motif 13 (TRIM13) may be adopted as a promising predictive biomarker for prognosis of breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" }, { "database": "PubMed", "id": "30837324", "url": "https://glygen.org/publication/PubMed/30837324" } ] }, { "annotation": "Results indicate that TRIM13 behaves as a tumor suppressor in non-small-cell lung carcinoma through regulating NF-kappaB pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" }, { "database": "PubMed", "id": "31357025", "url": "https://glygen.org/publication/PubMed/31357025" } ] }, { "annotation": "TRIM13 inhibits cell proliferation and induces autophagy in lung adenocarcinoma by regulating KEAP1/NRF2 pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" }, { "database": "PubMed", "id": "37245083", "url": "https://glygen.org/publication/PubMed/37245083" } ] }, { "annotation": "TRIM3 and TRIM16 as potential tumor suppressors in breast cancer patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" }, { "database": "PubMed", "id": "36180926", "url": "https://glygen.org/publication/PubMed/36180926" } ] }, { "annotation": "This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs756909588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756909588" }, { "id": "rs756909588", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756909588" }, { "id": "rs756909588", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756909588" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 353, "end_pos": 353, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->KFS).", "chr_id": "13", "chr_pos": "50012999", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N353", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754619198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754619198" }, { "id": "rs754619198", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754619198" }, { "id": "rs754619198", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754619198" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 46, "end_pos": 46, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSL->NSS).", "chr_id": "13", "chr_pos": "50012077", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L46", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60858", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60858" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 86, "end_pos": 86, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "13", "chr_pos": "50012198", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K86", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 13, "end_pos": 13, "sequence_org": "C", "sequence_mut": "A", "comment": "Absence of polyubiquitination. Stability of protein increased. No enhanced apoptosis on ionizing radiation induction. No ubiquitination of AKT1 or MDM2. Decreased p53/TP53 stability. No effect on induction of autophagy during ER stress.", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" }, { "database": "PubMed", "id": "22178386", "url": "https://glygen.org/publication/PubMed/22178386" }, { "database": "PubMed", "id": "21333377", "url": "https://glygen.org/publication/PubMed/21333377" }, { "database": "PubMed", "id": "17314412", "url": "https://glygen.org/publication/PubMed/17314412" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "60.32", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "67.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204977", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204977" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60858", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60858" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60858", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60858" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60858", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60858" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60858" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60858", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60858" } ], "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": "O60858", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60858" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"O60858", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60858", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "NLQVNYS", "url": "https://omabrowser.org/oma/group/NLQVNYS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5383069at2759", "url": "http://www.orthodb.org/?query=5383069at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24103", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24103", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24103:SF609", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24103:SF609", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00643", "url": "http://pfam.xfam.org/family/PF00643", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13445", "url": "http://pfam.xfam.org/family/PF13445", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60858", "url": "https://pharos.nih.gov/targets/O60858", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60858", "url": "http://purl.obolibrary.org/obo/PR_O60858", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60858-1", "url": "https://www.uniprot.org/uniprot/O60858-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60858-2", "url": "https://www.uniprot.org/uniprot/O60858-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60858-3", "url": "https://www.uniprot.org/uniprot/O60858-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R9U5", "url": "https://www.uniprot.org/uniprot/X6R9U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6R9U5-1", "url": "https://www.uniprot.org/uniprot/X6R9U5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RH27", "url": "https://www.uniprot.org/uniprot/X6RH27", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RH27-1", "url": "https://www.uniprot.org/uniprot/X6RH27-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": 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"MELLEEDLTCPICCSLFDDPRVLPCSHNFCKKCLEGILEGSVRNSLWRPAPFKCPTCRKETSATGINSLQVNYSLKGIVEKYNKIKISPKMPVCKGHLGQPLNIFCLTDMQLICGICATRGEHTKHVFCSIEDAYAQERDAFESLFQSFETWRRGDALSRLDTLETSKRKSLQLLTKDSDKVKEFFEKLQHTLDQKKNEILSDFETMKLAVMQAYDPEINKLNTILQEQRMAFNIAEAFKDVSEPIVFLQQMQEFREKIKVIKETPLPPSNLPASPLMKNFDTSQWEDIKLVDVDKLSLPQDTGTFISKIPWSFYKLFLLILLLGLVIVFGPTMFLEWSLFDDLATWKGCLSNFSSYLTKTADFIEQSVFYWEQVTDGFFIFNERFKNFTLVVLNNVAEFVCKYKLL", "length": 407, "header": "sp|O60858-1|TRI13_HUMAN Isoform 1 of E3 ubiquitin-protein ligase TRIM13 OS=Homo sapiens OX=9606 GN=TRIM13 PE=1 SV=2 CANONICAL=O60858-1" }, "locus": { "chromosome": "13", "start_pos": 50013161, "end_pos": 50011941, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378182.4", "url": "https://www.ensembl.org/id/ENST00000378182.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000367424.3", "url": "https://www.ensembl.org/id/ENSP00000367424.3" } ] } }, { "isoform_ac": "O60858-2", "url": "", "sequence": { "sequence": "MELLEEDLTCPICCSLFDDPRVLPCSHNFCKKCLEGILEGSVRNSLWRPAPFKCPTCRKETSATGINSLQVNYSLKGIVEKYNKIKISPKMPVCKGHLGQPLNIFCLTDMQLICGICATRGEHTKHVFCSIEDAYAQERDAFESLFQSFETWRRGDALSRLDTLETSKRKSLQLD", "length": 175, "header": "sp|O60858-2|TRI13_HUMAN Isoform 2 of E3 ubiquitin-protein ligase TRIM13 OS=Homo sapiens OX=9606 GN=TRIM13 PE=1 SV=2 CANONICAL=O60858-1" }, "locus": {} }, { "isoform_ac": "O60858-3", "url": "", "sequence": { "sequence": "MDVMELLEEDLTCPICCSLFDDPRVLPCSHNFCKKCLEGILEGSVRNSLWRPAPFKCPTCRKETSATGINSLQVNYSLKGIVEKYNKIKISPKMPVCKGHLGQPLNIFCLTDMQLICGICATRGEHTKHVFCSIEDAYAQERDAFESLFQSFETWRRGDALSRLDTLETSKRKSLQLLTKDSDKVKEFFEKLQHTLDQKKNEILSDFETMKLAVMQAYDPEINKLNTILQEQRMAFNIAEAFKDVSEPIVFLQQMQEFREKIKVIKETPLPPSNLPASPLMKNFDTSQWEDIKLVDVDKLSLPQDTGTFISKIPWSFYKLFLLILLLGLVIVFGPTMFLEWSLFDDLATWKGCLSNFSSYLTKTADFIEQSVFYWEQVTDGFFIFNERFKNFTLVVLNNVAEFVCKYKLL", "length": 410, "header": "sp|O60858-3|TRI13_HUMAN Isoform 3 of E3 ubiquitin-protein ligase TRIM13 OS=Homo sapiens OX=9606 GN=TRIM13 PE=1 SV=2 CANONICAL=O60858-1" }, "locus": { "chromosome": "13", "start_pos": 50013161, "end_pos": 50001106, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356017.8", "url": "https://www.ensembl.org/id/ENST00000356017.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000348299.4", "url": "https://www.ensembl.org/id/ENSP00000348299.4" } ] } }, { "isoform_ac": "X6R9U5-1", "url": "", "sequence": { "sequence": "MELLEEDLTCPICCSLFDDPRVLPCSHNFCKKCLEGILEGSVRNSLWRPAPFKCPTCRKETSATGINSLQVNYSLKGIVEKYNKIKISPKMPVCKGHLGQPLNIFCLTDMQLICGICATRGEHTKHVFCSIEDAYAQERDAFESLFQSFETWRRGDALSRLDTLETSKRKSLQLLTKDSDKVKEFFEKLQHTLDQKKNEILSDFETMKLAVMQAYDPEINKLNTILQEQRMAFNIAEAFKDVSEPIVFLQQMQEFREKIKVIKETP", "length": 266, "header": "tr|X6R9U5-1|X6R9U5_HUMAN Computationally mapped isoform of Tripartite motif containing 13 OS=Homo sapiens OX=9606 GN=TRIM13 PE=1 SV=1 CANONICAL=O60858-1" }, "locus": { "chromosome": "13", "start_pos": 50012738, "end_pos": 50011941, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378183.8", "url": "https://www.ensembl.org/id/ENST00000378183.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000367425.4", "url": "https://www.ensembl.org/id/ENSP00000367425.4" } ] } }, { "isoform_ac": "X6RH27-1", "url": "", "sequence": { "sequence": "MELLEEDLTCPICCSLFDDPRVLPCSHNFCKKCLEGILEGSVRNSLWRPAPFKCPTCRKETSATGINSLQVNYSLKGIVEKYNKIKISPKMPVCKGHLGQPLNIFCLTDMQLICGICATRGEHTKHVFC", "length": 129, "header": "tr|X6RH27-1|X6RH27_HUMAN Computationally mapped isoform of Tripartite motif containing 13 OS=Homo sapiens OX=9606 GN=TRIM13 PE=1 SV=1 CANONICAL=O60858-1" }, "locus": { "chromosome": "13", "start_pos": 50012327, "end_pos": 50011941, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442421.5", "url": "https://www.ensembl.org/id/ENST00000442421.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404586.1", "url": "https://www.ensembl.org/id/ENSP00000404586.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 353, "start_aa": "Asn", "end_pos": 353, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn353", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60858", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60858" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Identification, expression, and characterization of a cDNA encoding human endoplasmic reticulum mannosidase I, the enzyme that catalyzes the first mannose trimming step in mammalian Asn-linked oligosaccharide biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gonzalez DS, Karaveg K, Vandersall-Nairn AS, Lal A, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "10409699", "url": "https://glygen.org/publication/PubMed/10409699" } ] }, { "title": "Two homologues encoding human UDP-glucose:glycoprotein glucosyltransferase differ in mRNA expression and enzymatic activity.", "journal": "Biochemistry", "date": "2000", "authors": "Arnold SM, Fessler LI, Fessler JH, Kaufman RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "10694380", "url": "https://glygen.org/publication/PubMed/10694380" } ] }, { "title": "Nucleotide sequence, transcription map, and mutation analysis of the 13q14 chromosomal region deleted in B-cell chronic lymphocytic leukemia.", "journal": "Blood", "date": "2001", "authors": "Migliazza A, Bosch F, Komatsu H, Cayanis E, Martinotti S, Toniato E, Guccione E, Qu X, Chien M, Murty VV, Gaidano G, Inghirami G, Zhang P, Fischer S, Kalachikov SM, Russo J, Edelman I, Efstratiadis A, Dalla-Favera R", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" } ], "reference": [ { "type": "PubMed", "id": "11264177", "url": "https://glygen.org/publication/PubMed/11264177" } ] }, { "title": "The tripartite motif family identifies cell compartments.", "journal": "EMBO J.", "date": "2001", "authors": "Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci P G, Ballabio A", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" } ], "reference": [ { "type": "PubMed", "id": "11331580", "url": "https://glygen.org/publication/PubMed/11331580" } ] }, { "title": "The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Arnold SM, Kaufman RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "12913004", "url": "https://glygen.org/publication/PubMed/12913004" } ] }, { "title": "RFP2, c13ORF1, and FAM10A4 are the most likely tumor suppressor gene candidates for B-cell chronic lymphocytic leukemia.", "journal": "Cancer Genet. Cytogenet.", "date": "2003", "authors": "van Everdink WJ, Baranova A, Lummen C, Tyazhelova T, Looman MW, Ivanov D, Verlind E, Pestova A, Faber H, van der Veen AY, Yankovsky N, Vellenga E, Buys CH", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" } ], "reference": [ { "type": "PubMed", "id": "14499696", "url": "https://glygen.org/publication/PubMed/14499696" } ] }, { "title": "Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Karaveg K, Siriwardena A, Tempel W, Liu ZJ, Glushka J, Wang BC, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "15713668", "url": "https://glygen.org/publication/PubMed/15713668" } ] }, { "title": "EDEM3, a soluble EDEM homolog, enhances glycoprotein endoplasmic reticulum-associated degradation and mannose trimming.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hirao K, Natsuka Y, Tamura T, Wada I, Morito D, Natsuka S, Romero P, Sleno B, Tremblay LO, Herscovics A, Nagata K, Hosokawa N", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "16431915", "url": "https://glygen.org/publication/PubMed/16431915" } ] }, { "title": "The RBCC gene RFP2 (Leu5) encodes a novel transmembrane E3 ubiquitin ligase involved in ERAD.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Lerner M, Corcoran M, Cepeda D, Nielsen ML, Zubarev R, Ponten F, Uhlen M, Hober S, Grander D, Sangfelt O", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" } ], "reference": [ { "type": "PubMed", "id": "17314412", "url": "https://glygen.org/publication/PubMed/17314412" } ] }, { "title": "Endoplasmic reticulum (ER) mannosidase I is compartmentalized and required for N-glycan trimming to Man5-6GlcNAc2 in glycoprotein ER-associated degradation.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Avezov E, Frenkel Z, Ehrlich M, Herscovics A, Lederkremer GZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18003979", "url": "https://glygen.org/publication/PubMed/18003979" } ] }, { "title": "OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD.", "journal": "Nature cell biology", "date": "2008", "authors": "Christianson JC, Shaler TA, Tyler RE, Kopito RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18264092", "url": "https://glygen.org/publication/PubMed/18264092" } ] }, { "title": "A dual task for the Xbp1-responsive OS-9 variants in the mammalian endoplasmic reticulum: inhibiting secretion of misfolded protein conformers and enhancing their disposal.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Bernasconi R, Pertel T, Luban J, Molinari M", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18417469", "url": "https://glygen.org/publication/PubMed/18417469" } ] }, { "title": "A cell-based reglucosylation assay demonstrates the role of GT1 in the quality control of a maturing glycoprotein.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Pearse BR, Gabriel L, Wang N, Hebert DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": 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"23232094", "url": "https://glygen.org/publication/PubMed/23232094" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Participation of the E3-ligase TRIM13 in NF-\u03baB p65 activation and NFAT-dependent activation of c-Rel upon T-cell receptor engagement.", "journal": "The international journal of biochemistry & cell biology", "date": "2014-09", "authors": "Hatchi Emeline M, Poalas Konstantinos, Cordeiro Nelia, N'Debi M\u00e9lissa, Gavard Julie, Bid\u00e8re Nicolas", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": 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], "reference": [ { "type": "PubMed", "id": "25152375", "url": "https://glygen.org/publication/PubMed/25152375" } ] }, { "title": "Trim13 Potentiates Toll-Like Receptor 2-Mediated Nuclear Factor kappaB Activation via K29-Linked Polyubiquitination of Tumor Necrosis Factor Receptor-Associated Factor 6.", "journal": "Molecular pharmacology", "date": "2017", "authors": "Huang B, Baek SH", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" } ], "reference": [ { "type": "PubMed", "id": "28087809", "url": "https://glygen.org/publication/PubMed/28087809" } ] }, { "title": "Bioinformatics analysis of prognostic value of TRIM13 gene in breast cancer.", "journal": "Bioscience reports", "date": "2019", "authors": "Chen WX, Cheng L, Xu LY, Qian Q, Zhu YL", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" } ], "reference": [ { "type": "PubMed", "id": "30837324", "url": "https://glygen.org/publication/PubMed/30837324" } ] }, { "title": "TRIM13 inhibited cell proliferation and induced cell apoptosis by regulating NF-kappaB pathway in non-small-cell lung carcinoma cells.", "journal": "Gene", "date": "2019", "authors": "Xu L, Wu Q, Zhou X, Wu Q, Fang M", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" } ], "reference": [ { "type": "PubMed", "id": "31357025", "url": "https://glygen.org/publication/PubMed/31357025" } ] }, { "title": "Altered DNA methylation of TRIM13 in diabetic nephropathy suppresses mesangial collagen synthesis by promoting ubiquitination of CHOP.", "journal": "EBioMedicine", "date": "2020", "authors": "Li Y, Ren D, Shen Y, Zheng X, Xu G", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" } ], "reference": [ { "type": "PubMed", "id": "31901873", "url": "https://glygen.org/publication/PubMed/31901873" } ] }, { "title": "TRIM3 and TRIM16 as potential tumor suppressors in breast cancer patients.", "journal": "BMC research notes", "date": "2022", "authors": "Roshanazadeh MR, Adelipour M, Sanaei A, Chenane H, Rashidi M", "evidence": [ { "database": "RefSeq", "id": "NP_001007279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007279" } ], "reference": [ { "type": "PubMed", "id": "36180926", "url": "https://glygen.org/publication/PubMed/36180926" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60858", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60858" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": 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"evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" } ], "pmid": "" }, { "name": "ubiquitin-dependent ERAD pathway", "id": "GO:0030433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030433", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": 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Auto-polyubiquitination leads to proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "O60858", "url": "https://www.uniprot.org/uniprot/O60858" }, { "database": "PubMed", "id": "22178386", "url": "https://glygen.org/publication/PubMed/22178386" }, { "database": "PubMed", "id": "21333377", "url": "https://glygen.org/publication/PubMed/21333377" }, { "database": "PubMed", "id": "17314412", "url": "https://glygen.org/publication/PubMed/17314412" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-8867288", "name": "OS9:SEL1:ERAD E3 ligase:DERL2 ubiquitinates unfolded protein:(GlcNAc)2 (Man)9-5", "equation": "", "summary": "Proteins with major folding defects are extracted from futile folding cycles in the calnexin chaperone system and the ER Quality Control Compartment, and are translocated back to the cytosol for ER-associated degradation (ERAD). The N-glycan is used as a signal to distinguish proteins to be degraded, by direct binding to a ubiquitin ligase complex composed of, minimally, an E3 ubiquitin-protein ligase, protein sel-1 homolog 1 (SEL1L), derlin-2 (DERL2) and protein OS-9 (OS9) (Christianson et al. 2008, Bernasconi et al. 2008, Alcock & Swanton 2009; review Olzmann et al. 2013).", "cellular_location": "cytosol, endoplasmic reticulum membrane, endoplasmic reticulum quality control compartment", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96GF1-1", "Q86TM6-1", "Q8WU17-1", "O00237-1", "Q99942-1", "Q9UKV5-1", "O60858-1", "O60337-4" ], "evidence": [ { "id": "R-HSA-8867288", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8867288" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00237", "gene_name": "RNF103", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O00237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00237" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O00237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00237" } ] } ] }, { "uniprot_ac": "O60337", "gene_name": "MARCHF6", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60337" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60337" } ] } ] }, { "uniprot_ac": "O60858", "gene_name": "TRIM13", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60858" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60858" } ] } ] }, { "uniprot_ac": "Q86TM6", "gene_name": "SYVN1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q86TM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TM6" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q86TM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TM6" } ] } ] }, { "uniprot_ac": "Q8WU17", "gene_name": "RNF139", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q8WU17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8WU17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ] } ] }, { "uniprot_ac": "Q96GF1", "gene_name": "RNF185", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q96GF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96GF1" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q96GF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96GF1" } ] } ] }, { "uniprot_ac": "Q99942", "gene_name": "RNF5", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q99942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99942" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q99942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99942" } ] } ] }, { "uniprot_ac": "Q9UKV5", "gene_name": "AMFR", "activity": [ { "ec_number": "2.3.2.36", "activity": "[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-cysteine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-S-ubiquitinyl-L-cysteine.", "evidence": [ { "id": "Q9UKV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKV5" } ] }, { "ec_number": "2.3.2.36", "activity": "", "evidence": [ { "id": "Q9UKV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKV5" } ] } ] } ], "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": [ 353 ], "o_linked_sites": [], "snv_sites": [ 46, 86, 353 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 353, "end_pos": 355 }, { "start_pos": 388, "end_pos": 390 }, { "start_pos": 72, "end_pos": 74 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 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