{ "uniprot_canonical_ac": "O95998-2", "uniprot_ac": "O95998", "uniprot_id": "I18BP_HUMAN", "mass": { "chemical_mass": 21099.0, "monoisotopic_mass": 21099.0 }, "refseq": { "ac": "NP_001034748", "name": "interleukin-18-binding protein isoform a precursor", "summary": "The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748" }, "gene_names": [ { "name": "IL18BP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95998", "id": "O95998" }, { "name": "FVH; IL18BPa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748", "id": "NP_001034748" }, { "name": "IL18BP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748", "id": "NP_001034748" } ], "protein_names": [ { "name": "Interleukin-18-binding protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95998" }, { "name": "IL-18BP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95998" }, { "name": "MC51L-53L-54L homolog gene product; tadekinig-alfa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748", "id": "NP_001034748" }, { "name": "Tadekinig-alfa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95998" }, { "name": "interleukin-18-binding protein isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748", "id": "NP_001034748" } ], "function": [ { "annotation": "Caspase-1 and interleukin-18 in children with post infectious bronchiolitis obliterans: a case-control study.", "evidence": [ { "database": "RefSeq", "id": "NP_001034748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748" }, { "database": "PubMed", "id": "35705877", "url": "https://glygen.org/publication/PubMed/35705877" } ] }, { "annotation": "IL-18BP messenger transcript and protein are significantly increased in surgically resected specimens from active Crohn's disease compared with control patients, correlating with an up-regulation of IL-18.", "evidence": [ { "database": "RefSeq", "id": "NP_001034748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748" }, { "database": "PubMed", "id": "11907126", "url": "https://glygen.org/publication/PubMed/11907126" } ] }, { "annotation": "Interleukin-18 and IL-18BP in inflammatory dermatological diseases. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001034748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748" }, { "database": "PubMed", "id": "36742296", "url": "https://glygen.org/publication/PubMed/36742296" } ] }, { "annotation": "Interleukin-18 binding protein regulates the apoptosis and necroptosis of fibroblast-like synoviocytes and chondrocytes in rheumatoid arthritis.", "evidence": [ { "database": "RefSeq", "id": "NP_001034748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748" }, { "database": "PubMed", "id": "37083154", "url": "https://glygen.org/publication/PubMed/37083154" } ] }, { "annotation": "Isoform A binds to IL-18 and inhibits its activity. Functions as an inhibitor of the early TH1 cytokine response.", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998#function" }, { "database": "PubMed", "id": "10655506", "url": "https://glygen.org/publication/PubMed/10655506" }, { "database": "PubMed", "id": "31213488", "url": "https://glygen.org/publication/PubMed/31213488" }, { "database": "PubMed", "id": "10023777", "url": "https://glygen.org/publication/PubMed/10023777" } ] }, { "annotation": "Structural basis of human IL-18 sequestration by the decoy receptor IL-18 binding protein in inflammation and tumor immunity.", "evidence": [ { "database": "RefSeq", "id": "NP_001034748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748" }, { "database": "PubMed", "id": "35398099", "url": "https://glygen.org/publication/PubMed/35398099" } ] }, { "annotation": "The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001034748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748" } ] }, { "annotation": "Trancriptional activation and release of IL-18 binding protein in response to IFN-gamma", "evidence": [ { "database": "RefSeq", "id": "NP_001034748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034748" }, { "database": "PubMed", "id": "11739524", "url": "https://glygen.org/publication/PubMed/11739524" } ] } ], "disease": [ { "disease_id": "MONDO:0032809", "recommended_name": { "id": "MONDO:0032809", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032809", "name": "hepatitis, fulminant viral, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0032809", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032809", "name": "FVH", "description": "" }, { "id": "MONDO:0032809", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032809", "name": "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO", "description": "" }, { "id": "MIM:618549", "resource": "MIM", "url": "https://www.omim.org/entry/618549", "name": "Hepatitis, fulminant viral", "description": "Hepatitis, fulminant viral" } ], "evidence": [ { "id": "618549", "database": "MIM", "url": "https://www.omim.org/entry/618549" } ] } ], "snv": [ { "evidence": [ { "id": "rs770952779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770952779" }, { "id": "rs770952779", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770952779" }, { "id": "rs770952779", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770952779#frequency_tab" }, { "id": "rs770952779", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770952779" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 103, "end_pos": 103, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "11", "chr_pos": "72001273", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1448855248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448855248" }, { "id": "rs1448855248", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448855248" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 105, "end_pos": 105, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGF).", "chr_id": "11", "chr_pos": "72001279", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs80015617", "database": 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"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", 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"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 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"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, 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"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 - 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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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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{ "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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95998", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95998" } ], "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/O95998" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "common_name": "Human" } ], "gene": [ { "name": "IL18BP", "url": "https://www.uniprot.org/uniprot/O95998", "locus": { "chromosome": "11", "start_pos": 72007315, "end_pos": 71998613, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000137496", "url": "https://www.ensembl.org/id/ENSG00000137496" } ] } } ], "crossref": [ { "id": "ENSG00000137496", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137496", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "IL18BP", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL18BP", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10068", "url": "https://www.ncbi.nlm.nih.gov/gene/10068", "database": "GeneID", 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"MTMRHNWTPDLSPLWVLLLCAHVVTLLVRATPVSQTTTAATASVRSTKDPCPSQPPVFPAAKQCPALEVTWPEVEVPLSWAEGNLAPHPRSPALQPQQSTAAGLRLSTGPAAAQP", "length": 115, "header": "sp|O95998-3|I18BP_HUMAN Isoform 3 of Interleukin-18-binding protein OS=Homo sapiens OX=9606 GN=IL18BP PE=1 SV=2 CANONICAL=O95998-2" }, "locus": { "chromosome": "11", "start_pos": 72001893, "end_pos": 71999985, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393707.4", "url": "https://www.ensembl.org/id/ENST00000393707.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000377310.4", "url": "https://www.ensembl.org/id/ENSP00000377310.4" } ] } }, { "isoform_ac": "O95998-4", "url": "", "sequence": { "sequence": "MTMRHNWTPDLSPLWVLLLCAHVVTLLVRATPVSQTTTAATASVRSTKDPCPSQPPVFPAAKQCPALEVTWPEVEVPLNGTLSLSCVACSRFPNFSILYWLGNGSFIEHLPGRLWEGSTSRERGSTGWAEGNLAPHPRSPALQPQQSTAAGLRLSTGPAAAQP", "length": 163, "header": "sp|O95998-4|I18BP_HUMAN Isoform 4 of Interleukin-18-binding protein OS=Homo sapiens OX=9606 GN=IL18BP PE=1 SV=2 CANONICAL=O95998-2" }, "locus": { "chromosome": "11", "start_pos": 72001893, "end_pos": 71999985, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620017.4", "url": "https://www.ensembl.org/id/ENST00000620017.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000480621.1", "url": "https://www.ensembl.org/id/ENSP00000480621.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "O95998", "database": "UniCarbKB", "url": "" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "glytoucan_ac": "G50045TK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", 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(complex) asparagine Complex", "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "O95998", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95998#ptm_processing" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "glytoucan_ac": "G02628JF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "evidence": [ { "id": "669", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/669" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "evidence": [ { "id": "669", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/669" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "glytoucan_ac": "G83555HU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "evidence": [ { "id": "O95998", "database": "UniCarbKB", "url": "" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "glytoucan_ac": "G86234IN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "evidence": [ { "id": "669", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/669" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "Complex", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (complex) asparagine Complex", "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "evidence": [ { "id": "O95998", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95998#ptm_processing" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 46, "start_aa": "Ser", "end_pos": 46, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser46", "evidence": [ { "id": "O95998", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by 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immunology", "date": "2016", "authors": "Dinarello CA, Nold-Petry C, Nold M, Fujita M, Li S, Kim S, Bufler P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9008059", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9008059" } ], "reference": [ { "type": "PubMed", "id": "27060871", "url": "https://glygen.org/publication/PubMed/27060871" } ] }, { "title": "Intracellular IL-37b interacts with Smad3 to suppress multiple signaling pathways and the metastatic phenotype of tumor cells.", "journal": "Oncogene", "date": "2017", "authors": "Luo C, Shu Y, Luo J, Liu D, Huang DS, Han Y, Chen C, Li YC, Zou JM, Qin J, Wang Y, Li D, Wang SS, Zhang GM, Chen J, Feng ZH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9008059", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9008059" } ], "reference": [ { "type": "PubMed", "id": "28092676", "url": "https://glygen.org/publication/PubMed/28092676" } ] }, { "title": "Distinct urinary glycoprotein signatures in prostate cancer patients.", "journal": "Oncotarget", "date": "2018", "authors": "Kawahara R, Ortega F, Rosa-Fernandes L, Guimaraes V, Quina D, Nahas W, Schwammle V, Srougi M, Leite KRM, Thaysen-Andersen M, Larsen MR, Palmisano G", "evidence": [ { "database": "GlyConnect", "id": "669", "url": "https://glyconnect.expasy.org/browser/proteins/669" } ], "reference": [ { "type": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O95998", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Inherited IL-18BP deficiency in human fulminant viral hepatitis.", "journal": "The Journal of experimental medicine", "date": 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{ "uniprot_canonical_ac": "Q9Z0M9-1", "protein_name": "Interleukin-18-binding protein", "gene_name": "Il18bp", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTMRHCWTAGPSSWWVLLLYVHVILARATSAPQTTATVLTGSSKDPCSSWSPAVPTKQYPALDVIWPEKEVPLNGTLTLSCTACSRFPYFSILYWLGNGSFIEHLPGRLKEGHTSREHRNTSTWLHRALVLEELSPTLRSTNFSCLFVDPGQVAQYHIILAQLWDGLKTAPSPSQETLSSHSPVSRSAGPGVA", "length": 193 }, "evidence": [ { "id": "45934124", "url": "http://www.informatics.jax.org/homology/45934124", "database": "MGI" }, { "id": "O95998", "url": "https://omabrowser.org/oma/group/O95998/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "pmid": "" }, { "name": "T-helper 1 type immune response", "id": "GO:0042088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042088", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "receptor antagonist activity", "id": "GO:0048019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048019", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "pmid": "" }, { "name": "interleukin-18 binding", "id": "GO:0042007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042007", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "interleukin-18-binding protein N-glycosylated 1 (human)", "definition": "An interleukin-18-binding protein (human) that has been N-glycosylated at the residue equivalent to Asn-103 of the amino acid sequence represented by UniProtKB:O95998-2, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:O95998-2, Asn-103, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000050933", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050933" } ] }, { "name": "interleukin-18-binding protein N-glycosylated 2 (human)", "definition": "An interleukin-18-binding protein (human) that has been N-glycosylated at the residue equivalent to Asn-147 of the amino acid sequence represented by UniProtKB:O95998-2, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:O95998-2, Asn-147, MOD:00160~GNO:G83555HU. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000050934", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050934" } ] }, { "name": "interleukin-18-binding protein O-glycosylated 1 (human)", "definition": "An interleukin-18-binding protein (human) that has been O-glycosylated at the residue equivalent to Ser-46 of the amino acid sequence represented by UniProtKB:O95998-2, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:O95998-2, Ser-46, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050935", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050935" } ] }, { "name": "interleukin-18-binding protein O-glycosylated 2 (human)", "definition": "An interleukin-18-binding protein (human) that has been O-glycosylated at the residue equivalent to Ser-53 of the amino acid sequence represented by UniProtKB:O95998-2, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O95998-2, Ser-53, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:22171320, PMID:30459171]", "evidence": [ { "id": "PR:000050936", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050936" } ] }, { "name": "interleukin-18-binding protein O-glycosylated 3 (human)", "definition": "An interleukin-18-binding protein (human) that has been O-glycosylated at the residue equivalent to Ser-53 of the amino acid sequence represented by UniProtKB:O95998-2, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:O95998-2, Ser-53, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000050937", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050937" } ] }, { "name": "interleukin-18-binding protein O-glycosylated 4 (human)", "definition": "An interleukin-18-binding protein (human) that has been O-glycosylated at the residue equivalent to Thr-47 of the amino acid sequence represented by UniProtKB:O95998-2, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:O95998-2, Thr-47, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050938", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050938" } ] }, { "name": "interleukin-18-binding protein O-glycosylated 5 (human)", "definition": "An interleukin-18-binding protein (human) that has been O-glycosylated at the residue equivalent to Thr-47 of the amino acid sequence represented by UniProtKB:O95998-2, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O95998-2, Thr-47, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050939", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050939" } ] } ], "site_annotation": [ { "start_pos": 103, "end_pos": 105, "annotation": "n_glycosylation_sequon" }, { "start_pos": 147, "end_pos": 149, "annotation": "n_glycosylation_sequon" }, { "start_pos": 6, "end_pos": 8, "annotation": "n_glycosylation_sequon" }, { "start_pos": 79, "end_pos": 81, "annotation": "n_glycosylation_sequon" }, { "start_pos": 94, "end_pos": 96, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N- and O-glycosylated. O-glycosylated with core 1-like and core 2-like glycans. O-glycan heterogeneity at Ser-53: HexHexNAc (major) and Hex2HexNAc2 (minor). N-glycan heterogeneity at Asn-103: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (major) and Hex6HexNAc5 (minor); N-glycan at Asn-147: dHex1Hex5HexNAc4.", "evidence": [ { "database": "UniProtKB", "id": "O95998", "url": "https://www.uniprot.org/uniprot/O95998" }, { "database": "PubMed", "id": "22171320", "url": "https://glygen.org/publication/PubMed/22171320" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "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": [ 79, 94, 103, 147 ], "o_linked_sites": [ 46, 47, 53 ], "snv_sites": [ 46, 79, 81, 94, 96, 103, 105, 147 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 103, "end_pos": 105 }, { "start_pos": 147, "end_pos": 149 }, { "start_pos": 6, "end_pos": 8 }, { "start_pos": 79, "end_pos": 81 }, { "start_pos": 94, "end_pos": 96 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 22 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 6 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "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_with_glycan", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 6 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "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_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": 9 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 31 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }