{ "uniprot_canonical_ac": "Q8K0E8-1", "uniprot_ac": "Q8K0E8", "uniprot_id": "FIBB_MOUSE", "mass": { "chemical_mass": 54753.0, "monoisotopic_mass": 54753.0 }, "refseq": { "ac": "NP_862897", "name": "fibrinogen beta chain preproprotein", "summary": "This gene encodes the beta subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded preproprotein is proteolytically processed by thrombin to release an N-terminal fibrinopeptide during the conversion of fibrinogen to insoluble fibrin polymer. The encoded protein interacts with the amyloid beta peptide to form fibrin clots of abnormal structure, and may play an important role in Alzheimer's disease. This gene is located adjacent to the genes encoding fibrinogen alpha and gamma subunits on chromosome 3. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862897" }, "gene_names": [ { "name": "Fgb", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8K0E8", "id": "Q8K0E8" }, { "name": "2510049G14Rik", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862897", "id": "NP_862897" }, { "name": "Fgb", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862897", "id": "NP_862897" } ], "protein_names": [ { "name": "Fibrinogen beta chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8K0E8" }, { "name": "fibrinogen beta chain preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862897", "id": "NP_862897" }, { "name": "fibrinogen, B beta polypeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862897", "id": "NP_862897" } ], "function": [ { "annotation": "Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the immune response via both innate and T-cell mediated pathways.", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8#function" }, { "database": "UniProtKB", "id": "E9PV24", "url": "https://www.uniprot.org/uniprot/E9PV24#function" } ] }, { "annotation": "MiR-877-5p Inhibits Epithelial Mesenchymal Transformation of Breast Cancer Cells by Targeting FGB. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_862897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862897" }, { "database": "PubMed", "id": "36438895", "url": "https://glygen.org/publication/PubMed/36438895" } ] }, { "annotation": "This gene encodes the beta subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded preproprotein is proteolytically processed by thrombin to release an N-terminal fibrinopeptide during the conversion of fibrinogen to insoluble fibrin polymer. The encoded protein interacts with the amyloid beta peptide to form fibrin clots of abnormal structure, and may play an important role in Alzheimer's disease. This gene is located adjacent to the genes encoding fibrinogen alpha and gamma subunits on chromosome 3. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_862897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862897" } ] } ], "disease": [ { "disease_id": "DOID:0060903", "recommended_name": { "id": "DOID:0060903", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system." }, "synonyms": [], "evidence": [ { "id": "0060903", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ] }, { "disease_id": "DOID:1287", "recommended_name": { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." }, "synonyms": [ { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "disease of subdivision of hemolymphoid system", "description": "" } ], "evidence": [ { "id": "1287", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ] }, { "disease_id": "DOID:1574", "recommended_name": { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences." }, "synonyms": [ { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "Ethanol abuse", "description": "" }, { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol abuse", "description": "" } ], "evidence": [ { "id": "1574", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ] }, { "disease_id": "DOID:2236", "recommended_name": { "id": "DOID:2236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2236", "name": "congenital afibrinogenemia", "description": "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I)." }, "synonyms": [ { "id": "DOID:2236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2236", "name": "Factor I deficiency", "description": "" }, { "id": "DOID:2236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2236", "name": "Fibrinogen deficiency", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "congenital afibrinogenemia", "description": "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "fibrinogen deficiency", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "factor I deficiency", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "afibrinogenemia", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "afibrinogenemia congenital", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "afibrinogenemia, congenital", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "familial afibrinogenemia", "description": "" }, { "id": "MONDO:0008737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008737", "name": "hypofibrinogenemia, congenital", "description": "" }, { "id": "MIM:202400", "resource": "MIM", "url": "https://www.omim.org/entry/202400", "name": "Congenital afibrinogenemia", "description": "Congenital afibrinogenemia" } ], "evidence": [ { "id": "2236", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2236" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:3407", "recommended_name": { "id": "DOID:3407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3407", "name": "carotid artery disease", "description": "" }, "synonyms": [ { "id": "DOID:3407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3407", "name": "disorder of carotid artery", "description": "" } ], "evidence": [ { "id": "3407", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, susceptibility to", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ], "evidence": [ { "id": "4989", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "Mci2", "description": "" } ], "evidence": [ { "id": "5844", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "disease_id": "DOID:783", "recommended_name": { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." }, "synonyms": [ { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal failure", "description": "" }, { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end-stage kidney disease", "description": "" } ], "evidence": [ { "id": "783", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:783" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9477", "recommended_name": { "id": "DOID:9477", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot." }, "synonyms": [ { "id": "DOID:9477", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9477", "name": "pulmonary artery embolism", "description": "" }, { "id": "DOID:9477", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9477", "name": "pulmonary embolus", "description": "" } ], "evidence": [ { "id": "9477", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ] } ], "snv": [ { "evidence": [ { "id": "rs3388631688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388631688" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 386, "end_pos": 386, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRI).", "chr_id": "3", "chr_pos": "82950596", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T386", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Fgb", "url": "https://www.uniprot.org/uniprot/Q8K0E8", "locus": { "chromosome": "3", "start_pos": 82947448, "end_pos": 82957170, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000033831", "url": "https://www.ensembl.org/id/ENSMUSG00000033831" } ] } } ], "crossref": [ { "id": "ENSMUSG00000033831", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000033831", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00087", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00087", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "110135", "url": "https://www.ncbi.nlm.nih.gov/gene/110135", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2312", "url": "https://glyconnect.expasy.org/browser/proteins/2312", "database": "GlyConnect", "categories": [ "Glycan", "Glycoproteomics" ] }, { "id": "GPDB0006732", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0006732", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "Q8K0E8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q8K0E8*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002181", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002181", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012290", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012290", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014716", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014716", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020837", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020837", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036056", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036056", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037579", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037579", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:110135", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:110135", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "99501", "url": "http://www.informatics.jax.org/marker/MGI:99501", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "Q8K0E8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K0E8", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CIHADPD", "url": "https://omabrowser.org/oma/group/CIHADPD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3134470at2759", "url": "http://www.orthodb.org/?query=3134470at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR47221", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47221", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47221:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47221:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00147", "url": "http://pfam.xfam.org/family/PF00147", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08702", "url": "http://pfam.xfam.org/family/PF08702", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q8K0E8", "url": "http://purl.obolibrary.org/obo/PR_Q8K0E8", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-140875", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-216083", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-354192", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-354192", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-354194", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-354194", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-372708", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-372708", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-5674135", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5674135", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-5686938", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5686938", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_862897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862897", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8K0E8-1", "url": "https://www.uniprot.org/uniprot/Q8K0E8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRHLWLLLLLCVFSVQTQAADDDYDEPTDSLDARGHRPVDRRKEEPPSLRPAPPPISGGGYRARPAKATANQKKVERRPPDAGGCLHADTDMGVLCPTGCTLQQTLLNQERPIKSSIAELNNNIQSVSDTSSVTFQYLTLLKDMWKKKQAQVKENENVINEYSSILEDQRLYIDETVNDNIPLNLRVLRSILEDLRSKIQKLESDISAQMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDTSIKPYRVYCDMKTENGGWTVIQNRQDGSVDFGRKWDPYKKGFGNIATNEDAKKYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEASKYQVSVNKYKGTAGNALMDGASQLVGENRTMTIHNGMFFSTYDRDNDGWVTTDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGLYSWDMSKHGTDDGVVWMNWKGSWYSMRRMSMKIRPFFPQQ", "length": 481, "header": "sp|Q8K0E8-1|FIBB_MOUSE Isoform 1 of Fibrinogen beta chain OS=Mus musculus OX=10090 GN=Fgb PE=1 SV=1 CANONICAL=Q8K0E8-1" }, "isoforms": [ { "isoform_ac": "Q8K0E8-1", "url": "", "sequence": { "sequence": "MRHLWLLLLLCVFSVQTQAADDDYDEPTDSLDARGHRPVDRRKEEPPSLRPAPPPISGGGYRARPAKATANQKKVERRPPDAGGCLHADTDMGVLCPTGCTLQQTLLNQERPIKSSIAELNNNIQSVSDTSSVTFQYLTLLKDMWKKKQAQVKENENVINEYSSILEDQRLYIDETVNDNIPLNLRVLRSILEDLRSKIQKLESDISAQMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDTSIKPYRVYCDMKTENGGWTVIQNRQDGSVDFGRKWDPYKKGFGNIATNEDAKKYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEASKYQVSVNKYKGTAGNALMDGASQLVGENRTMTIHNGMFFSTYDRDNDGWVTTDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGLYSWDMSKHGTDDGVVWMNWKGSWYSMRRMSMKIRPFFPQQ", "length": 481, "header": "sp|Q8K0E8-1|FIBB_MOUSE Isoform 1 of Fibrinogen beta chain OS=Mus musculus OX=10090 GN=Fgb PE=1 SV=1 CANONICAL=Q8K0E8-1" }, "locus": { "chromosome": "3", "start_pos": 82957068, "end_pos": 82949713, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000048246", "url": "https://www.ensembl.org/id/ENSMUST00000048246" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000039472", "url": "https://www.ensembl.org/id/ENSMUSP00000039472" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G86226EA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 384, "start_aa": "Asn", "end_pos": 384, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn384", "evidence": [ { "id": "2312", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2312" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 384, "start_aa": "Asn", "end_pos": 384, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn384", "evidence": [ { "id": "Q8K0E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K0E8#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q8K0E8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K0E8" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Capturing site-specific heterogeneity with large-scale N-glycoproteome analysis.", "journal": "Nature communications", "date": "2019", "authors": "Riley NM, Hebert AS, Westphall MS, Coon JJ", "evidence": [ { "database": "GlyConnect", "id": "2312", "url": "https://glyconnect.expasy.org/browser/proteins/2312" } ], "reference": [ { "type": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "title": "First comprehensive identification of cardiac proteins with putative increased O-GlcNAc levels during pressure overload hypertrophy.", "journal": "PloS one", "date": "2022", "authors": "Zhu Wei Zhong, Palazzo Teresa, Zhou Mowei, Ledee Dolena, Olson Heather M, Pa\u0161a-Toli\u0107 Ljiljana, Olson Aaron K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8K0E8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K0E8" } ], "reference": [ { "type": "PubMed", "id": "36288343", "url": "https://glygen.org/publication/PubMed/36288343" } ] }, { "title": "miR-877-5p Inhibits Epithelial Mesenchymal Transformation of Breast Cancer Cells by Targeting FGB.", "journal": "Disease markers", "date": "2022", "authors": "Liu Haixia, Xiang Lili, Mei Yu", "evidence": [ { "database": "RefSeq", "id": "NP_862897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862897" } ], "reference": [ { "type": "PubMed", "id": "36438895", "url": "https://glygen.org/publication/PubMed/36438895" } ] } ], "pathway": [ { "id": "mmu:110135", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:110135", "resource": "KEGG Pathway" }, { "id": "R-MMU-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-MMU-140875", "name": "Common Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-140875", "resource": "Reactome", "description": "Common Pathway of Fibrin Clot Formation" }, { "id": "R-MMU-216083", "name": "Integrin cell surface interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-216083", "resource": "Reactome", "description": "Integrin cell surface interactions" }, { "id": "R-MMU-354192", "name": "Integrin signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-354192", "resource": "Reactome", "description": "Integrin signaling" }, { "id": "R-MMU-354194", "name": "GRB2:SOS provides linkage to MAPK signaling for Integrins", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-354194", "resource": "Reactome", "description": "GRB2:SOS provides linkage to MAPK signaling for Integrins" }, { "id": "R-MMU-372708", "name": "p130Cas linkage to MAPK signaling for integrins", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-372708", "resource": "Reactome", "description": "p130Cas linkage to MAPK signaling for integrins" }, { "id": "R-MMU-5674135", "name": "MAP2K and MAPK activation", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5674135", "resource": "Reactome", "description": "MAP2K and MAPK activation" }, { "id": "R-MMU-5686938", "name": "Regulation of TLR by endogenous ligand", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5686938", "resource": "Reactome", "description": "Regulation of TLR by endogenous ligand" } ], "orthologs": [ { "uniprot_canonical_ac": "P02675-1", "protein_name": "Fibrinogen beta chain", "gene_name": "FGB", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSARGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAATQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQKQVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIHNGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ", "length": 491 }, "evidence": [ { "id": "45231844", "url": "http://www.informatics.jax.org/homology/45231844", "database": "MGI" }, { "id": "Q8K0E8", "url": "https://omabrowser.org/oma/group/Q8K0E8/", "database": "OMA" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P14480-1", "protein_name": "Fibrinogen beta chain", "gene_name": "Fgb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRHLWLLLLSVSLVQTQAATTDSDKVDLSIARGHRPVDRRKEEPPSLRPAPPPISGGGYRARPAKVDAGQKKVERKPPDAGGCVHGDGDMGVLCPTGCELRQTLLNHERPIKNSIAELNSNINSVSETSSVTFQYLTLLKDMWKKKQAQVKDNENVINEYSSILEDQKLYIDETVNDNIPLNLRVLRSILEDLRSKIQKLESDISAQTEYCHTPCTVNCNIPVVSGKECEEIIRKGGETSEMYLIQPDTSSKPYRVYCDMKTENGGWTVIQNRQDGSVDFGRKWDPYKKGFGNIATNEDTKKYCGLPGEYWLGNDKISQLTRIGPTELLIEMEDWKGDKVKAHYGGFTVQTEANKYQVSVNKYKGTAGNALMEGASQLVGENRTMTIHNGMFFSTYDRDNDGWVTTDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGLYSWDMSKHGTDDGVVWMNWKGSWYSMRRMSMKIRPVFPQQ", "length": 479 }, "evidence": [ { "id": "45231844", "url": "http://www.informatics.jax.org/homology/45231844", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "fibrinogen complex", "id": "GO:0005577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005577", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "platelet alpha granule", "id": "GO:0031091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031091", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell apoptotic process", "id": "GO:2000352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000352", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "plasminogen activation", "id": "GO:0031639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031639", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902042", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "positive regulation of peptide hormone secretion", "id": "GO:0090277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090277", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "induction of bacterial agglutination", "id": "GO:0043152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043152", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "positive regulation of heterotypic cell-cell adhesion", "id": "GO:0034116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034116", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "cellular response to leptin stimulus", "id": "GO:0044320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044320", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "blood coagulation, fibrin clot formation", "id": "GO:0072378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072378", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q8K0E8", "url": "https://www.uniprot.org/uniprot/Q8K0E8" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 384, "end_pos": 386, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }