{ "uniprot_canonical_ac": "O00635-1", "uniprot_ac": "O00635", "uniprot_id": "TRI38_HUMAN", "mass": { "chemical_mass": 53416.0, "monoisotopic_mass": 53416.0 }, "refseq": { "ac": "NP_006346", "name": "E3 ubiquitin-protein ligase TRIM38", "summary": "This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" }, "gene_names": [ { "name": "TRIM38", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00635", "id": "O00635" }, { "name": "RNF15; RORET", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346", "id": "NP_006346" }, { "name": "RNF15", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00635", "id": "O00635" }, { "name": "RORET", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00635", "id": "O00635" }, { "name": "TRIM38", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346", "id": "NP_006346" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase TRIM38", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00635" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00635" }, { "name": "E3 ubiquitin-protein ligase TRIM38", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346", "id": "NP_006346" }, { "name": "RING finger protein 15", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00635" }, { "name": "Ro/SSA ribonucleoprotein homolog; ring finger protein 15; tripartite motif-containing protein 38; zinc finger protein RoRet; RING-type E3 ubiquitin transferase TRIM38", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346", "id": "NP_006346" }, { "name": "Tripartite motif-containing protein 38", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00635" }, { "name": "Zinc finger protein RoRet", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00635" } ], "function": [ { "annotation": "E3 ubiquitin-protein and E3 SUMO-protein ligase that acts as a regulator of innate immunity (PubMed:23056470). Acts as a negative regulator of type I interferon IFN-beta production by catalyzing 'Lys-48'-linked polyubiquitination of AZI2/NAP1, leading to its degradation (By similarity). Mediates 'Lys-48'-linked polyubiquitination and proteasomal degradation of the critical TLR adapter TICAM1, inhibiting TLR3-mediated type I interferon signaling (PubMed:23056470). Acts as positive regulator of the cGAS-STING pathway by acting as a E3 SUMO-protein ligase: mediates sumoylation of CGAS and STING, preventing their degradation and thereby activating the innate immune response to DNA virus (By similarity). Also acts as a negative regulator of NF-kappa-B signaling independently of its E3 protein ligase activity by promoting lysosome-dependent degradation of TAB2 and TAB3 adapters (PubMed:24434549).", "evidence": [ { "database": "UniProtKB", "id": "O00635", "url": "https://www.uniprot.org/uniprot/O00635#function" }, { "database": "PubMed", "id": "23056470", "url": "https://glygen.org/publication/PubMed/23056470" }, { "database": "UniProtKB", "id": "Q5SZ99", "url": "https://www.uniprot.org/uniprot/Q5SZ99#function" }, { "database": "PubMed", "id": "24434549", "url": "https://glygen.org/publication/PubMed/24434549" } ] }, { "annotation": "Investigation into the role of the MITA-TRIM38 interaction in regulating pyroptosis and maintaining immune tolerance at the maternal-fetal interface. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" }, { "database": "PubMed", "id": "38012139", "url": "https://glygen.org/publication/PubMed/38012139" } ] }, { "annotation": "TRIM38 triggers the uniquitination and degradation of glucose transporter type 1 (GLUT1) to restrict tumor progression in bladder cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" }, { "database": "PubMed", "id": "34906161", "url": "https://glygen.org/publication/PubMed/34906161" } ] }, { "annotation": "The antiviral activity of tripartite motif protein 38 in hepatitis B virus replication and gene expression and its association with treatment responses during PEG-IFN-alpha antiviral therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" }, { "database": "PubMed", "id": "36623352", "url": "https://glygen.org/publication/PubMed/36623352" } ] }, { "annotation": "This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" } ] }, { "annotation": "Tripartite motif 38 alleviates the pathological process of NAFLD-NASH by promoting TAB2 degradation.", "evidence": [ { "database": "RefSeq", "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" }, { "database": "PubMed", "id": "37116711", "url": "https://glygen.org/publication/PubMed/37116711" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs771256360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771256360" }, { "id": "rs771256360", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771256360" }, { "id": "rs771256360", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771256360#frequency_tab" }, { "id": "rs771256360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771256360" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 155, "end_pos": 155, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "6", "chr_pos": "25969377", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T155", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373187399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373187399" }, { "id": "rs373187399", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373187399" }, { "id": "rs373187399", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373187399" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 158, "end_pos": 158, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "6", "chr_pos": "25969387", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K158", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00635", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00635" } ], "glycoeffect": [], "start_pos": 282, "end_pos": 282, "subjects_tested": "412", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "25973255", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D282", "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" } ] }, { "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: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": "rs528143552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528143552" }, { "id": "rs528143552", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528143552" }, { "id": "rs528143552", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528143552" }, { "id": "rs528143552", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs528143552#frequency_tab" }, { "id": "rs528143552", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs528143552" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 293, "end_pos": 293, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVT->NVT).", "chr_id": "6", "chr_pos": "25983167", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S293", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00635", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00635" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 439, "end_pos": 439, "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 (KAS->NAS).", "chr_id": "6", "chr_pos": "25983606", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K439", "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" ] }, { "evidence": [ { "id": "rs1439987230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439987230" }, { "id": "rs1439987230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439987230" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 47, "end_pos": 47, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "6", "chr_pos": "25966661", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P47", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112343", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112343" } ] }, { "tissue": { "name": "Oral cavity", 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"82.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112343", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112343" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112343", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112343" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "80.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112343", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112343" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112343", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112343" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112343", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112343" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112343", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112343" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112343", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112343" } ] }, { "tissue": { "name": "Prostate gland", 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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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00635", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00635" } ], "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": "" }, { 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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": "O00635", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00635" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00635" } ], "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": [ 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(London, England : 1993)", "date": "2000", "authors": "Thiel DJ, le Du MH, Walter RL, D'Arcy A, Chene C, Fountoulakis M, Garotta G, Winkler FK, Ealick SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "10986460", "url": "https://glygen.org/publication/PubMed/10986460" } ] }, { "title": "Requirement of Ca2+ and CaMKII for Stat1 Ser-727 phosphorylation in response to IFN-gamma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Nair JS, DaFonseca CJ, Tjernberg A, Sun W, Darnell JE Jr, Chait BT, Zhang JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "11972023", "url": "https://glygen.org/publication/PubMed/11972023" } ] }, { "title": "A road map for those who don't know JAK-STAT.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Aaronson DS, Horvath CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "12040185", "url": "https://glygen.org/publication/PubMed/12040185" } ] }, { "title": "Seeing the light: preassembly and ligand-induced changes of the interferon gamma receptor complex in cells.", "journal": "Molecular & cellular proteomics : MCP", "date": "2002", "authors": "Krause CD, Mei E, Xie J, Jia Y, Bopp MA, Hochstrasser RM, Pestka S", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "12438563", "url": "https://glygen.org/publication/PubMed/12438563" } ] }, { "title": "Y-box-binding protein YB-1 mediates transcriptional repression of human alpha 2(I) collagen gene expression by interferon-gamma.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Higashi K, Inagaki Y, Suzuki N, Mitsui S, Mauviel A, Kaneko H, Nakatsuka I", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "12446674", "url": "https://glygen.org/publication/PubMed/12446674" } ] }, { "title": "The ins and outs of STAT1 nuclear transport.", "journal": "Science's STKE : signal transduction knowledge environment", "date": "2003", "authors": "McBride KM, Reich NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "12915721", "url": "https://glygen.org/publication/PubMed/12915721" } ] }, { "title": "Stoichiometry of interaction between interferon gamma and its receptor.", "journal": "European journal of biochemistry", "date": "1992", "authors": "Fountoulakis M, Zulauf M, Lustig A, Garotta G", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "1396683", "url": "https://glygen.org/publication/PubMed/1396683" } ] }, { "title": "Interferon-gamma suppresses transforming growth factor-beta-induced invasion of gastric carcinoma cells through cross-talk of Smad pathway in a three-dimensional culture model.", "journal": "Oncogene", "date": "2003", "authors": "Kuga H, Morisaki T, Nakamura K, Onishi H, Noshiro H, Uchiyama A, Tanaka M, Katano M", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "14586410", "url": "https://glygen.org/publication/PubMed/14586410" } ] }, { "title": "Interferon-gamma inhibits transforming growth factor-beta production in human airway epithelial cells by targeting Smads.", "journal": "American journal of respiratory cell and molecular biology", "date": "2004", "authors": "Wen FQ, Liu X, Kobayashi T, Abe S, Fang Q, Kohyama T, Ertl R, Terasaki Y, Manouilova L, Rennard SI", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "14722222", "url": "https://glygen.org/publication/PubMed/14722222" } ] }, { "title": "Transcriptional induction of IFN-gamma-responsive genes is modulated by DNA surrounding the interferon stimulation response element.", "journal": "Nucleic acids research", "date": "1992", "authors": "Strehlow I, Decker T", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "1508672", "url": "https://glygen.org/publication/PubMed/1508672" } ] }, { "title": "Autophosphorylation of JAK2 on tyrosines 221 and 570 regulates its activity.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Argetsinger LS, Kouadio JL, Steen H, Stensballe A, Jensen ON, Carter-Su C", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "15143187", "url": "https://glygen.org/publication/PubMed/15143187" } ] }, { "title": "Protein kinase Cdelta regulates apoptosis via activation of STAT1.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "DeVries TA, Kalkofen RL, Matassa AA, Reyland ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "15322115", "url": "https://glygen.org/publication/PubMed/15322115" } ] }, { "title": "Three-dimensional structures of a humanized anti-IFN-gamma Fab (HuZAF) in two crystal forms.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2004", "authors": "Bourne PC, Terzyan SS, Cloud G, Landolfi NF, Vasquez M, Edmundson AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "15388922", "url": "https://glygen.org/publication/PubMed/15388922" } ] }, { "title": "Determination of the transphosphorylation sites of Jak2 kinase.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Matsuda T, Feng J, Witthuhn BA, Sekine Y, Ihle JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "15530433", "url": "https://glygen.org/publication/PubMed/15530433" } ] }, { "title": "Signaling through a mutant IFN-gamma receptor.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Costa-Pereira AP, Hermanns HM, Is'harc H, Williams TM, Watling D, Arulampalam V, Newman SJ, Heinrich PC, Kerr IM", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "16237089", "url": "https://glygen.org/publication/PubMed/16237089" } ] }, { "title": "Preassembly and ligand-induced restructuring of the chains of the IFN-gamma receptor complex: the roles of Jak kinases, Stat1 and the receptor chains.", "journal": "Cell research", "date": "2006", "authors": "Krause CD, Lavnikova N, Xie J, Mei E, Mirochnitchenko OV, Jia Y, Hochstrasser RM, Pestka S", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "16467876", "url": "https://glygen.org/publication/PubMed/16467876" } ] }, { "title": "IFN-gamma abrogates profibrogenic TGF-beta signaling in liver by targeting expression of inhibitory and receptor Smads.", "journal": "Journal of hepatology", "date": "2007", "authors": "Weng H, Mertens PR, Gressner AM, Dooley S", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "17125875", "url": "https://glygen.org/publication/PubMed/17125875" } ] }, { "title": "Induction of guanylate binding protein 5 by gamma interferon increases susceptibility to Salmonella enterica serovar Typhimurium-induced pyroptosis in RAW 264.7 cells.", "journal": "Infection and immunity", "date": "2008", "authors": "Rupper AC, Cardelli JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "18362138", "url": "https://glygen.org/publication/PubMed/18362138" } ] }, { "title": "Tyrosine phosphorylation regulates the partitioning of STAT1 between different dimer conformations.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Wenta N, Strauss H, Meyer S, Vinkemeier U", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "18591661", "url": "https://glygen.org/publication/PubMed/18591661" } ] }, { "title": "Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice.", "journal": "EMBO molecular medicine", "date": "2009", "authors": "Pachlopnik Schmid J, Ho CH, Chretien F, Lefebvre JM, Pivert G, Kosco-Vilbois M, Ferlin W, Geissmann F, Fischer A, de Saint Basile G", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "20049711", "url": 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Koleva RI, Cline JM, Marto JA, Myers MG Jr, Carter-Su C", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "20304997", "url": "https://glygen.org/publication/PubMed/20304997" } ] }, { "title": "Selective inhibition of JAK1 and JAK2 is efficacious in rodent models of arthritis: preclinical characterization of INCB028050.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Fridman JS, Scherle PA, Collins R, Burn TC, Li Y, Li J, Covington MB, Thomas B, Collier P, Favata MF, Wen X, Shi J, McGee R, Haley PJ, Shepard S, Rodgers JD, Yeleswaram S, Hollis G, Newton RC, Metcalf B, Friedman SM, Vaddi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "20363976", "url": "https://glygen.org/publication/PubMed/20363976" 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"title": "TRIM38 triggers the uniquitination and degradation of glucose transporter type 1 (GLUT1) to restrict tumor progression in bladder cancer.", "journal": "Journal of translational medicine", "date": "2021", "authors": "Wang X, He H, Rui W, Zhang N, Zhu Y, Xie X", "evidence": [ { "database": "RefSeq", "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" } ], "reference": [ { "type": "PubMed", "id": "34906161", "url": "https://glygen.org/publication/PubMed/34906161" } ] }, { "title": "The antiviral activity of tripartite motif protein 38 in hepatitis B virus replication and gene expression and its association with treatment responses during PEG-IFN-\u03b1 antiviral therapy.", "journal": "Virology", "date": "2023-02", "authors": "Luo Haiying, Hu Xiaoxia, Li Yadi, Lei Dingjia, Tan Guili, Zeng Yueying, Qin Bo", "evidence": [ { "database": "RefSeq", "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" } ], "reference": [ { "type": "PubMed", "id": "36623352", "url": "https://glygen.org/publication/PubMed/36623352" } ] }, { "title": "Tripartite motif 38 alleviates the pathological process of NAFLD-NASH by promoting TAB2 degradation.", "journal": "Journal of lipid research", "date": "2023-07", "authors": "Yao Xinxin, Dong Ruixiang, Hu Sha, Liu Zhen, Cui Jie, Hu Fengjiao, Cheng Xu, Wang Xiaoming, Ma Tengfei, Tian Song, Zhang Xiao-Jing, Hu Yufeng, Bai Lan, Li Hongliang, Zhang Peng", "evidence": [ { "database": "RefSeq", "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" } ], "reference": [ { "type": "PubMed", "id": "37116711", "url": "https://glygen.org/publication/PubMed/37116711" } ] }, { "title": "Investigation into the role of the MITA-TRIM38 interaction in regulating pyroptosis and maintaining immune tolerance at the maternal-fetal interface.", "journal": "Cell death & disease", "date": "2023-11-28", "authors": "Liu Jun, Deng Yan, Wang An, Liu Bowen, Zhou Xi, Yin Tailang, Wang Yan, Tang Tao, Qiu Yang, Chen Jiao, Yang Jing", "evidence": [ { "database": "RefSeq", "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346" } ], "reference": [ { "type": "PubMed", "id": "38012139", "url": "https://glygen.org/publication/PubMed/38012139" } ] }, { "title": "Interferon activation of the transcription factor Stat91 involves dimerization through SH2-phosphotyrosyl peptide interactions.", "journal": "Cell", "date": "1994", "authors": "Shuai K, Horvath CM, Huang LH, Qureshi SA, Cowburn D, Darnell JE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7510216", "url": "https://glygen.org/publication/PubMed/7510216" } ] }, { "title": "Interferon-gamma induces tyrosine phosphorylation of interferon-gamma receptor and regulated association of protein tyrosine kinases, Jak1 and Jak2, with its receptor.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Igarashi K, Garotta G, Ozmen L, Ziemiecki A, Wilks AF, Harpur AG, Larner AC, Finbloom DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7514165", "url": "https://glygen.org/publication/PubMed/7514165" } ] }, { "title": "Cytokine-induced expression of vascular cell adhesion molecule-1 (VCAM-1) by astrocytes and astrocytoma cell lines.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1995", "authors": "Rosenman SJ, Shrikant P, Dubb L, Benveniste EN, Ransohoff RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7530745", "url": "https://glygen.org/publication/PubMed/7530745" } ] }, { "title": "The Jak kinases differentially associate with the alpha and beta (accessory factor) chains of the interferon gamma receptor to form a functional receptor unit capable of activating STAT transcription factors.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Sakatsume M, Igarashi K, Winestock KD, Garotta G, Larner AC, Finbloom DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7615558", "url": "https://glygen.org/publication/PubMed/7615558" } ] }, { "title": "Crystal structure of a complex between interferon-gamma and its soluble high-affinity receptor.", "journal": "Nature", "date": "1995", "authors": "Walter MR, Windsor WT, Nagabhushan TL, Lundell DJ, Lunn CA, Zauodny PJ, Narula SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7617032", "url": "https://glygen.org/publication/PubMed/7617032" } ] }, { "title": "Phosphorylation and activation of the DNA binding activity of purified Stat1 by the Janus protein-tyrosine kinases and the epidermal growth factor receptor.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Quelle FW, Thierfelder W, Witthuhn BA, Tang B, Cohen S, Ihle JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": [ { "type": "PubMed", "id": "7657660", "url": "https://glygen.org/publication/PubMed/7657660" } ] }, { "title": "Interaction between the components of the interferon gamma receptor complex.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Kotenko SV, Izotova LS, Pollack BP, Mariano TM, Donnelly RJ, Muthukumaran G, Cook JR, Garotta G, Silvennoinen O, Ihle JN, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-877300", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-877300" } ], "reference": 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"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": "P19474", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19474" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P19474", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19474" } ] } ] }, { "uniprot_ac": "P29590", "gene_name": "PML", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "P29590", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29590" } ] } ] }, { "uniprot_ac": "P29728", "gene_name": "OAS2", "activity": [ { "ec_number": "2.7.7.84", "activity": "3 ATP = 5'-triphosphoadenylyl-(2'->5')-adenylyl-(2'->5')-adenosine + 2 diphosphate.", "evidence": [ { "id": "P29728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29728" } ] }, { "ec_number": "2.7.7.84", "activity": "", "evidence": [ { "id": "P29728", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29728" } ] } ] }, { "uniprot_ac": "P32455", "gene_name": "GBP1", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "P32455", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32455" } ] }, { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32455", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32455" } ] } ] }, { "uniprot_ac": "P32456", "gene_name": "GBP2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32456", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32456" } ] } ] }, { "uniprot_ac": "P33076", "gene_name": "CIITA", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P33076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33076" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P33076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33076" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "P33076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33076" } ] } ] }, { "uniprot_ac": "Q12899", "gene_name": "TRIM26", "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": "Q12899", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12899" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q12899", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12899" } ] } ] }, { "uniprot_ac": "Q14258", "gene_name": "TRIM25", "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": "Q14258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14258" } ] }, { "ec_number": "6.3.2.n3", "activity": "ATP + [ISG15] + [protein]-lysine = AMP + diphosphate + [protein]-N-ISGyllysine.", "evidence": [ { "id": "Q14258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14258" } ] }, { "ec_number": "6.3.2.n3", "activity": "", "evidence": [ { "id": "Q14258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14258" } ] } ] }, { "uniprot_ac": "Q6AZZ1", "gene_name": "TRIM68", "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": "Q6AZZ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AZZ1" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q6AZZ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AZZ1" } ] } ] }, { "uniprot_ac": "Q6ZN66", "gene_name": "GBP6", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q6ZN66", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZN66" } ] } ] }, { "uniprot_ac": "Q8IWZ4", "gene_name": "TRIM48", "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": "Q8IWZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IWZ4" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8IWZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IWZ4" } ] } ] }, { "uniprot_ac": "Q8IYM9", "gene_name": "TRIM22", "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": "Q8IYM9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYM9" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8IYM9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYM9" } ] } ] }, { "uniprot_ac": "Q8N8V2", "gene_name": "GBP7", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "Q8N8V2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N8V2" } ] }, { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q8N8V2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N8V2" } ] } ] }, { "uniprot_ac": "Q96PP8", "gene_name": "GBP5", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q96PP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PP8" } ] } ] }, { "uniprot_ac": "Q96PP9", "gene_name": "GBP4", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q96PP9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PP9" } ] } ] }, { "uniprot_ac": "Q9BVG3", "gene_name": "TRIM62", "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": "Q9BVG3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BVG3" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9BVG3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BVG3" } ] } ] }, { "uniprot_ac": "Q9BYJ4", "gene_name": "TRIM34", "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": "Q9BYJ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYJ4" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9BYJ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYJ4" } ] } ] }, { "uniprot_ac": "Q9BZR9", "gene_name": "TRIM8", "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": "Q9BZR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZR9" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9BZR9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZR9" } ] } ] }, { "uniprot_ac": "Q9BZY9", "gene_name": "TRIM31", "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": "Q9BZY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZY9" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9BZY9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZY9" } ] } ] }, { "uniprot_ac": "Q9C030", "gene_name": "TRIM6", "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": "Q9C030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C030" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9C030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C030" } ] } ] }, { "uniprot_ac": "Q9C035", "gene_name": "TRIM5", "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": "Q9C035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C035" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9C035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C035" } ] } ] }, { "uniprot_ac": "Q9C040", "gene_name": "TRIM2", "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": "Q9C040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C040" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9C040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9C040" } ] } ] }, { "uniprot_ac": "Q9H0R5", "gene_name": "GBP3", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "Q9H0R5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H0R5" } ] } ] }, { "uniprot_ac": "Q9H8W5", "gene_name": "TRIM45", "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": "Q9H8W5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8W5" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9H8W5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8W5" } ] } ] }, { "uniprot_ac": "Q9UPQ4", "gene_name": "TRIM35", "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": "Q9UPQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPQ4" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9UPQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPQ4" } ] } ] }, { "uniprot_ac": "Q9Y577", "gene_name": "TRIM17", "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 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"snv_sites": [ 47, 155, 158, 282, 293, 439 ], "glycation_sites": [], "phosphorylation_sites": [ 70 ], "sequon_annotation_sites": [ { "start_pos": 249, "end_pos": 251 }, { "start_pos": 275, "end_pos": 277 } ] }, "section_stats": [ { "table_id": "glycosylation", "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_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": 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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 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": "publication", "table_stats": [ { "field": "total", "count": 54 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }