{ "uniprot_canonical_ac": "P05160-1", "uniprot_ac": "P05160", "uniprot_id": "F13B_HUMAN", "mass": { "chemical_mass": 75511.0, "monoisotopic_mass": 75511.0 }, "refseq": { "ac": "NP_001985", "name": "coagulation factor XIII B chain precursor", "summary": "This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985" }, "gene_names": [ { "name": "F13B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05160", "id": "P05160" }, { "name": "F13B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985", "id": "NP_001985" }, { "name": "FXIIIB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985", "id": "NP_001985" } ], "protein_names": [ { "name": "Coagulation factor XIII B chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05160" }, { "name": "Fibrin-stabilizing factor B subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05160" }, { "name": "Protein-glutamine gamma-glutamyltransferase B chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05160" }, { "name": "TGase; transglutaminase B chain; fibrin-stabilizing factor B subunit; protein-glutamine gamma-glutamyltransferase B chain; coagulation factor XIII, B polypeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985", "id": "NP_001985" }, { "name": "Transglutaminase B chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05160" }, { "name": "coagulation factor XIII B chain precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985", "id": "NP_001985" } ], "function": [ { "annotation": "Effect of factor XIII levels and polymorphisms on the risk of myocardial infarction in young patients", "evidence": [ { "database": "RefSeq", "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985" }, { "database": "PubMed", "id": "29484525", "url": "https://glygen.org/publication/PubMed/29484525" } ] }, { "annotation": "In VTE patients the changes of FXIII level and their effect on the risk of VTE show considerable sex-specific differences. Intron K polymorphism results in decreased FXIII levels, but does not influence the risk of VTE.", "evidence": [ { "database": "RefSeq", "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985" }, { "database": "PubMed", "id": "28865246", "url": "https://glygen.org/publication/PubMed/28865246" } ] }, { "annotation": "Investigations show no effect of FXIII-B subunit on the rate of complement activation", "evidence": [ { "database": "RefSeq", "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985" }, { "database": "PubMed", "id": "30915671", "url": "https://glygen.org/publication/PubMed/30915671" } ] }, { "annotation": "Role, Laboratory Assessment and Clinical Relevance of Fibrin, Factor XIII and Endogenous Fibrinolysis in Arterial and Venous Thrombosis. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985" }, { "database": "PubMed", "id": "33540604", "url": "https://glygen.org/publication/PubMed/33540604" } ] }, { "annotation": "The B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin.", "evidence": [ { "database": "UniProtKB", "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160#function" }, { "database": "PubMed", "id": "3021194", "url": "https://glygen.org/publication/PubMed/3021194" }, { "database": "PubMed", "id": "21742792", "url": "https://glygen.org/publication/PubMed/21742792" } ] }, { "annotation": "The results suggest that plasma FXIII levels are subjected to multifactorial regulation with age, fibrinogen level and FXIII-B intron K polymorphism being the major determinants. Their effect on FXIII levels might influence the risk of thrombotic diseases.", "evidence": [ { "database": "RefSeq", "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985" }, { "database": "PubMed", "id": "27821352", "url": "https://glygen.org/publication/PubMed/27821352" } ] }, { "annotation": "This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985" } ] } ], "disease": [ { "disease_id": "DOID:2211", "recommended_name": { "id": "DOID:2211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2211", "name": "factor XIII deficiency", "description": "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor." }, "synonyms": [ { "id": "DOID:2211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2211", "name": "Factor XIII deficiency disease", "description": "" }, { "id": "DOID:2211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2211", "name": "Hereditary factor XIII deficiency disease", "description": "" }, { "id": "DOID:2211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2211", "name": "deficiency, Laki-Lorand factor", "description": "" }, { "id": "MONDO:0013190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013190", "name": "factor XIII, b subunit, deficiency of", "description": "" }, { "id": "MONDO:0013190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013190", "name": "factor XIII, b subunit, deficiency of", "description": "" }, { "id": "MONDO:0013190", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013190", "name": "factor XIIIB deficiency", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "factor XIII, A subunit, deficiency of", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "factor XIII, A subunit, deficiency of", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "factor XIIIA deficiency", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "hereditary factor XIII A subunit deficiency", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "hereditary factor XIII alpha subunit deficiency", "description": "" }, { "id": "MONDO:0013187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013187", "name": "hereditary factor XIII type II deficiency", "description": "" }, { "id": "MIM:613235", "resource": "MIM", "url": "https://www.omim.org/entry/613235", "name": "Factor XIII subunit B deficiency", "description": "Factor XIII subunit B deficiency" }, { "id": "MIM:613225", "resource": "MIM", "url": "https://www.omim.org/entry/613225", "name": "Factor XIII subunit A deficiency", "description": "Factor XIII subunit A deficiency" } ], "evidence": [ { "id": "613235", "database": "MIM", "url": "https://www.omim.org/entry/613235" } ] } ], "snv": [ { "evidence": [ { "id": "rs981223160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs981223160" }, { "id": "rs981223160", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs981223160" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 162, "end_pos": 162, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->SYS); n-glyco-sequon-gain (NGN->NGS).", "chr_id": "1", "chr_pos": "197061042", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05160", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05160" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 122, "end_pos": 122, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (YKT->NKT).", "chr_id": "1", "chr_pos": "197061871", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y122", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P05160", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05160" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 228, "end_pos": 228, "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 (KQT->NQT).", "chr_id": "1", "chr_pos": "197060487", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K228", "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": "rs1243578751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243578751" }, { "id": "rs1243578751", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1243578751#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 246, "end_pos": 246, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYY->NYS).", "chr_id": "1", "chr_pos": "197060434", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y246", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs999273393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs999273393" }, { "id": "rs999273393", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs999273393#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 259, "end_pos": 259, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFG->NFS).", "chr_id": "1", "chr_pos": "197060396", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G259", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05160", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05160" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 34, "end_pos": 34, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGR->NGT).", "chr_id": "1", "chr_pos": "197063021", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R34", "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 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05160", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05160" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05160", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05160" } ], "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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"http://purl.obolibrary.org/obo/PR_P05160", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P05160", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A3B3IS66", "url": "https://www.uniprot.org/uniprot/A0A3B3IS66", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IS66-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IS66-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05160-1", "url": "https://www.uniprot.org/uniprot/P05160-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRLKNLTFIIILIISGELYAEEKPCGFPHVENGRIAQYYYTFKSFYFPMSIDKKLSFFCLAGYTTESGRQEEQTTCTTEGWSPEPRCFKKCTKPDLSNGYISDVKLLYKIQENMRYGCASGYKTTGGKDEEVVQCLSDGWSSQPTCRKEHETCLAPELYNGNYSTTQKTFKVKDKVQYECATGYYTAGGKKTEEVECLTYGWSLTPKCTKLKCSSLRLIENGYFHPVKQTYEEGDVVQFFCHENYYLSGSDLIQCYNFGWYPESPVCEGRRNRCPPPPLPINSKIQTHSTTYRHGEIVHIECELNFEIHGSAEIRCEDGKWTEPPKCIEGQEKVACEEPPFIENGAANLHSKIYYNGDKVTYACKSGYLLHGSNEITCNRGKWTLPPECVENNENCKHPPVVMNGAVADGILASYATGSSVEYRCNEYYLLRGSKISRCEQGKWSSPPVCLEPCTVNVDYMNRNNIEMKWKYEGKVLHGDLIDFVCKQGYDLSPLTPLSELSVQCNRGEVKYPLCTRKESKGMCTSPPLIKHGVIISSTVDTYENGSSVEYRCFDHHFLEGSREAYCLDGMWTTPPLCLEPCTLSFTEMEKNNLLLKWDFDNRPHILHGEYIEFICRGDTYPAELYITGSILRMQCDRGQLKYPRCIPRQSTLSYQEPLRT", "length": 661, "header": "sp|P05160-1|F13B_HUMAN Isoform 1 of Coagulation factor XIII B chain OS=Homo sapiens OX=9606 GN=F13B PE=1 SV=3 CANONICAL=P05160-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IS66-1", "url": "", "sequence": { "sequence": "ATGSSVEYRCNEYYLLRGSKISRCEQGKWSSPPVCLEPCTVNVDYMNRNNIEMKWKYEGKVLHGDLIDFVCKQGYDLSPLTPLSELSVQCNRGEVKYPLCTRKESKGMCTSPPLIKHGVIISSTVDTYENGSSVEYRCFDHHFLEGSREAYCLDGMWTTPPLCLEPCTLSFTEMEKNNLLLKWDFDNRPHILHGEYIEFICRGDTYPAELYITGSILRMQCDRGQLKYPRCIPRQSTLSYQEPLRT", "length": 246, "header": "tr|A0A3B3IS66-1|F13B_HUMAN Computationally mapped isoform of Coagulation factor XIII B chain OS=Homo sapiens OX=9606 GN=F13B PE=1 SV=1 CANONICAL=P05160-1" }, "locus": { "chromosome": "1", "start_pos": 197055823, "end_pos": 197039381, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649282.1", "url": "https://www.ensembl.org/id/ENST00000649282.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497116.1", "url": "https://www.ensembl.org/id/ENSP00000497116.1" } ] } }, { "isoform_ac": "P05160-1", "url": "", "sequence": { "sequence": "MRLKNLTFIIILIISGELYAEEKPCGFPHVENGRIAQYYYTFKSFYFPMSIDKKLSFFCLAGYTTESGRQEEQTTCTTEGWSPEPRCFKKCTKPDLSNGYISDVKLLYKIQENMRYGCASGYKTTGGKDEEVVQCLSDGWSSQPTCRKEHETCLAPELYNGNYSTTQKTFKVKDKVQYECATGYYTAGGKKTEEVECLTYGWSLTPKCTKLKCSSLRLIENGYFHPVKQTYEEGDVVQFFCHENYYLSGSDLIQCYNFGWYPESPVCEGRRNRCPPPPLPINSKIQTHSTTYRHGEIVHIECELNFEIHGSAEIRCEDGKWTEPPKCIEGQEKVACEEPPFIENGAANLHSKIYYNGDKVTYACKSGYLLHGSNEITCNRGKWTLPPECVENNENCKHPPVVMNGAVADGILASYATGSSVEYRCNEYYLLRGSKISRCEQGKWSSPPVCLEPCTVNVDYMNRNNIEMKWKYEGKVLHGDLIDFVCKQGYDLSPLTPLSELSVQCNRGEVKYPLCTRKESKGMCTSPPLIKHGVIISSTVDTYENGSSVEYRCFDHHFLEGSREAYCLDGMWTTPPLCLEPCTLSFTEMEKNNLLLKWDFDNRPHILHGEYIEFICRGDTYPAELYITGSILRMQCDRGQLKYPRCIPRQSTLSYQEPLRT", "length": 661, "header": "sp|P05160-1|F13B_HUMAN Isoform 1 of Coagulation factor XIII B chain OS=Homo sapiens OX=9606 GN=F13B PE=1 SV=3 CANONICAL=P05160-1" }, "locus": { "chromosome": "HSCHR1_5_CTG31", "start_pos": 832354, "end_pos": 804512, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000709526.1", "url": "https://www.ensembl.org/id/ENST00000709526.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000517743.1", "url": "https://www.ensembl.org/id/ENSP00000517743.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "P05160", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P05160@N162", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P05160@N162" } ] }, { "glytoucan_ac": "G05933EN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "P05160@N162", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P05160@N162" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "1122", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1122" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G47737VJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "P05160@N162", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P05160@N162" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "1122", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1122" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "P05160", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "P05160", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05160#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 516, "start_aa": "Thr", "end_pos": 516, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr516", "evidence": [ { "id": "P05160", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05160" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "P05160", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P05160" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 520, "start_aa": "Ser", "end_pos": 520, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser520", "evidence": [ { "id": "P05160", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05160" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "P05160", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P05160" } ] }, { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 545, "start_aa": "Asn", "end_pos": 545, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn545", "evidence": [ { "id": "P05160", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G06247RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 545, "start_aa": "Asn", "end_pos": 545, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn545", "evidence": [ { "id": "P05160", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G24954UD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 545, "start_aa": "Asn", "end_pos": 545, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn545", "evidence": [ { "id": "1122", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1122" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G27947YN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 545, "start_aa": "Asn", "end_pos": 545, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn545", "evidence": [ { "id": "P05160", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, 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"reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1122", "url": "https://glyconnect.expasy.org/browser/proteins/1122" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Amino acid sequence of the b subunit of human factor XIII, a protein composed of ten repetitive segments.", "journal": "Biochemistry", "date": "1986-08-12", "authors": "Ichinose A, McMullen B A, Fujikawa K, Davie E W", "evidence": [ { "database": "UniProtKB", "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160" } ], "reference": [ { "type": "PubMed", "id": "3021194", "url": "https://glygen.org/publication/PubMed/3021194" } ] }, { "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": "P05160", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Cofactor proteins in the assembly and expression of blood clotting enzyme complexes.", "journal": "Annual review of biochemistry", "date": "1988", "authors": "Mann KG, Jenny RJ, Krishnaswamy S", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "3052293", "url": "https://glygen.org/publication/PubMed/3052293" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05160", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05160" }, { "database": "O-GlcNAc Atlas", "id": "P05160", "url": "https://oglcnac.org/atlas/detail/P05160" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Exploring the structural similarity yet functional distinction between coagulation factor XIII-B and complement factor H sushi domains.", "journal": "Journal of thrombosis and thrombolysis", "date": "2019", "authors": "Akhter MS, Singh S, Yadegari H, Ivaskevicius V, Oldenburg J, Biswas A", "evidence": [ { "database": "RefSeq", "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985" } ], "reference": [ { "type": "PubMed", "id": "30915671", "url": "https://glygen.org/publication/PubMed/30915671" } ] }, { "title": "Role, Laboratory Assessment and Clinical Relevance of Fibrin, Factor XIII and Endogenous Fibrinolysis in Arterial and Venous Thrombosis.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Memtsas VP, Arachchillage DRJ, Gorog DA", "evidence": [ { "database": "RefSeq", "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985" } ], "reference": [ { "type": "PubMed", "id": "33540604", "url": "https://glygen.org/publication/PubMed/33540604" } ] }, { "title": "Heparin and its low molecular weight derivatives: anticoagulant and antithrombotic properties.", "journal": "Haemostasis", "date": "1986", "authors": "Holmer E, Soderberg K, Bergqvist D, Lindahl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "3744129", "url": "https://glygen.org/publication/PubMed/3744129" } ] }, { "title": "Inhibition of chymotrypsin by heparin cofactor II.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Church FC, Noyes CM, Griffith MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "3863104", "url": "https://glygen.org/publication/PubMed/3863104" } ] }, { "title": "Human Factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and cross-linking of fibrinogen and fibrin.", "journal": "J. Biol. Chem.", "date": "1973", "authors": "Schwartz M L, Pizzo S V, Hill R L, McKee P A", "evidence": [ { "database": "UniProtKB", "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160" } ], "reference": [ { "type": "PubMed", "id": "4405643", "url": "https://glygen.org/publication/PubMed/4405643" } ] }, { "title": "Mechanism of inhibition of activated protein C by protein C inhibitor.", "journal": "Journal of biochemistry", "date": "1984", "authors": "Suzuki K, Nishioka J, Kusumoto H, Hashimoto S", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "6323392", "url": "https://glygen.org/publication/PubMed/6323392" } ] }, { "title": "Studies on synthetic peptides that bind to fibrinogen and prevent fibrin polymerization. Structural requirements, number of binding sites, and species differences.", "journal": "Biochemistry", "date": "1980", "authors": "Laudano AP, Doolittle RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "7356959", "url": "https://glygen.org/publication/PubMed/7356959" } ] }, { "title": "Effects of protein S and factor Xa on peptide bond cleavages during inactivation of factor Va and factor VaR506Q by activated protein C.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Rosing J, Hoekema L, Nicolaes GA, Thomassen MC, Hemker HC, Varadi K, Schwarz HP, Tans G", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "7499257", "url": "https://glygen.org/publication/PubMed/7499257" } ] }, { "title": "Factor IXa protects factor VIIIa from activated protein C. Factor IXa inhibits activated protein C-catalyzed cleavage of factor VIIIa at Arg562.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Regan LM, Lamphear BJ, Huggins CF, Walker FJ, Fay PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "8144529", "url": "https://glygen.org/publication/PubMed/8144529" } ] }, { "title": "Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.", "journal": "Blood", "date": "1993", "authors": "Hashiguchi T, Saito M, Morishita E, Matsuda T, Ichinose A", "evidence": [ { "database": "UniProtKB", "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160" } ], "reference": [ { "type": "PubMed", "id": "8324218", "url": "https://glygen.org/publication/PubMed/8324218" } ] }, { "title": "Identification of functional endothelial protein C receptor in human plasma.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Kurosawa S, Stearns-Kurosawa DJ, Hidari N, Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "9218519", "url": "https://glygen.org/publication/PubMed/9218519" } ] } ], "pathway": [ { "id": "hsa:2165", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2165", "resource": "KEGG Pathway" }, { "id": "R-HSA-140875", "name": "Common Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "resource": "Reactome", "description": "Common Pathway of Fibrin Clot Formation" } ], "orthologs": [ { "uniprot_canonical_ac": "B1H260-1", "protein_name": "F13b protein", "gene_name": "F13b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRPRHLPFILILIISGELYAEEKQCDFPAVENGRIAQYYYTFKSYYFPMSIDKKLSFFCLAGYATESGKQEEKIRCTAEGWSPKPRCYKKCLKPVLRNGYVSDGKVLYKIQENMRYGCTSGYKTTGGKDEEVVQCLSEGWSSQPSCRKEQETCLAPELHHGNYSTIQRTFKVKDRVQYTCTAGYYTATGKQTEEVECQAHGWSFTPQCNKLMCSSLRLIENGYFHPVKQTYEEGDVVQFFCHENYYLSGSDLIQCYNFGWYPESPICEGRRNRCPPPPVPLNSKVEPHSTTYRHGEVVHIECELNFAIQGSDALVCENGKWTEPPKCVEEKEKVACEQPPSVENGVADPRSEVYYSGDKVTYRCGGGYRLRGSSTITCNRGRWTLPPECVENIENCKPPPVIANGAVVDDLLASYTTGSSVEYRCNEYYLLKGSQTSLCEQGTWSSPPVCLEPCTIDVHHMNRNNIQMKWKYEGKILHGDMIDFVCKQGYVLPLSTTLSEVSVQCNRGDVRYPVCVRRESKGMCASPPVIRNGNIVSLVASTYENGSSVEYQCFDSHFLQGSRDAYCVDGVWTTPPSCLEPCTLSFVEMDKNYLQLKWNFDNRPLILHGEYIEFICKGDAYMTETSIPESELRVQCDGGILKYPKCTPRERSLSFQEALRT", "length": 661 }, "evidence": [ { "id": "P05160", "url": "https://omabrowser.org/oma/group/P05160/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q07968-1", "protein_name": "Coagulation factor XIII B chain", "gene_name": "F13b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MMTLRHLPFILLLILSGELYAEEKQCDFPTVENGRIAQYYYTFKSFYFPMSVDKKLSFFCLAGYATESGKQEEQIRCTAEGWSPNPRCYKKCLKPDLRNGYVSNDKVLYKLQERMSYGCSSGYKTTGGKDEEVVHCLSAGWSSQPSCRKEQETCLAPELEHGNYSTTQRTFKVKDIVAYTCTAGYYTTTGKQTGEAECQANGWSLTPQCNKLMCSSLRLIENGYFHPVKQTYEEGDVVQFFCHENYYLSGSDLIQCYNFGWYPESPICEGRRNRCPPPPVPLNSKIQPHSTTYRHGERVHIECELNFVIQGSEELLCENGKWTEPPKCIEEKEKVACEQPPSVENGVAHPHSEIYYSGDKVTYRCGGGYSLRGSSTITCNRGRWTLPPECVENIENCKPPPDIANGVVVDGLLASYTTGSSVEYRCNEYYLLKGSETSRCEQGAWSSPPVCLEPCTIDVDHMNRNNIQLKWKYEGKILHGDLIDFVCKQGYNLSPSIPLSEISAQCNRGDVRYPMCIRKESKGMCASPPVIRNGDIVSSAARTYENGSSVEYRCFDNHFLQGSQNVYCVDGVWTTPPSCLEPCTLSFVEMDKNYLQLKWNFDNRPLILHGEYIEFMCKRDAYISETSIAGSVLRVQCDRGRLKYPKCTPRDRRLSFQEALRTRRQMEKR", "length": 669 }, "evidence": [ { "id": "45923155", "url": "http://www.informatics.jax.org/homology/45923155", "database": "MGI" }, { "id": "P05160", "url": "https://omabrowser.org/oma/group/P05160/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "transferase complex", "id": "GO:1990234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990234", "evidence": [ { "database": "UniProtKB", "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160" } ], "pmid": "" }, { "name": "blood coagulation, fibrin clot formation", "id": "GO:0072378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072378", "evidence": [ { "database": "UniProtKB", "id": "P05160", "url": "https://www.uniprot.org/uniprot/P05160" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "coagulation factor XIII B chain N-glycosylated 1 (human)", "definition": "A coagulation factor XIII B chain (human) that has been N-glycosylated at the residue equivalent to Asn-162 of the amino acid sequence represented by UniProtKB:P05160-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05160-1, Asn-162, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053522", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053522" } ] }, { "name": "coagulation factor XIII B chain N-glycosylated 2 (human)", "definition": "A coagulation factor XIII B chain (human) that has been N-glycosylated at the residue equivalent to Asn-162 of the amino acid sequence represented by UniProtKB:P05160-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P05160-1, Asn-162, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053523", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053523" } ] }, { "name": "coagulation factor XIII B chain N-glycosylated 3 (human)", "definition": "A coagulation factor XIII B chain (human) that has been N-glycosylated at the residue equivalent to Asn-545 of the amino acid sequence represented by UniProtKB:P05160-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05160-1, Asn-545, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053524", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053524" } ] }, { "name": "coagulation factor XIII B chain N-glycosylated 4 (human)", "definition": "A coagulation factor XIII B chain (human) that has been N-glycosylated at the residue equivalent to Asn-545 of the amino acid sequence represented by UniProtKB:P05160-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P05160-1, Asn-545, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053525", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053525" } ] }, { "name": "coagulation factor XIII B chain N-glycosylated 5 (human)", "definition": "A coagulation factor XIII B chain (human) that has been N-glycosylated at the residue equivalent to Asn-545 of the amino acid sequence represented by UniProtKB:P05160-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P05160-1, Asn-545, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053526", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053526" } ] }, { "name": "coagulation factor XIII B chain N-glycosylated 6 (human)", "definition": "A coagulation factor XIII B chain (human) that has been N-glycosylated at the residue equivalent to Asn-545 of the amino acid sequence represented by UniProtKB:P05160-1, in which the glycan composition is represented by GlyTouCan:G54992WG. Example: UniProtKB:P05160-1, Asn-545, MOD:00160~GNO:G54992WG. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053527", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053527" } ] }, { "name": "coagulation factor XIII B chain O-glycosylated 1 (human)", "definition": "A coagulation factor XIII B chain (human) that has been O-glycosylated at the residue equivalent to Thr-652 of the amino acid sequence represented by UniProtKB:P05160-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05160-1, Thr-652, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053528", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053528" } ] } ], "site_annotation": [ { "start_pos": 162, "end_pos": 164, "annotation": "n_glycosylation_sequon" }, { "start_pos": 545, "end_pos": 547, "annotation": "n_glycosylation_sequon" }, { "start_pos": 5, "end_pos": 7, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 162, 545 ], "o_linked_sites": [ 516, 520, 650, 652 ], "snv_sites": [ 34, 122, 162, 228, 246, 259, 438, 466, 518, 545, 591, 594, 652 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 162, "end_pos": 164 }, { "start_pos": 545, "end_pos": 547 }, { "start_pos": 5, "end_pos": 7 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 23 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 15 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 3 }, { "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_reported", "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_reported_with_glycan", "table_stats": [ { "field": "total", "count": 21 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 15 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 3 }, { "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 13 } ], "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": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 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", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 48 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }