{ "uniprot_canonical_ac": "A0A0G2K975-1", "uniprot_ac": "A0A0G2K975", "uniprot_id": "A0A0G2K975_RAT", "mass": { "chemical_mass": 85809.0, "monoisotopic_mass": 85809.0 }, "refseq": {}, "gene_names": [ { "name": "Cfhr4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2K975", "id": "A0A0G2K975" }, { "name": "RGD1564614", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0G2K975", "id": "A0A0G2K975" } ], "protein_names": [ { "name": "Complement factor H-related 4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K975/entry#names_and_taxonomy", "id": "A0A0G2K975" } ], "function": [], "disease": [ { "disease_id": "DOID:0060746", "recommended_name": { "id": "DOID:0060746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060746", "name": "basal laminar drusen", "description": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3." }, "synonyms": [ { "id": "DOID:0060746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060746", "name": "cuticular drusen", "description": "" }, { "id": "DOID:0060746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060746", "name": "drusen of bruch membrane", "description": "" }, { "id": "DOID:0060746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060746", "name": "early adult-onset grouped drusen", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "basal laminar drusen", "description": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3." }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "basal laminar drusen", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "cuticular drusen", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "drusen of Bruch membrane", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "early adult-onset grouped drusen", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "drusen, cuticular", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "drusen, early adult-onset, grouped", "description": "" }, { "id": "MIM:126700", "resource": "MIM", "url": "https://www.omim.org/entry/126700", "name": "Basal laminar drusen", "description": "Basal laminar drusen" } ], "evidence": [ { "id": "0060746", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060746" } ] }, { "disease_id": "DOID:0080162", "recommended_name": { "id": "DOID:0080162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus." }, "synonyms": [], "evidence": [ { "id": "0080162", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ] }, { "disease_id": "DOID:0080301", "recommended_name": { "id": "DOID:0080301", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080301", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." }, "synonyms": [], "evidence": [ { "id": "0080301", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080301" } ] }, { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ], "evidence": [ { "id": "0080600", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ] }, { "disease_id": "DOID:0110014", "recommended_name": { "id": "DOID:0110014", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110014", "name": "age related macular degeneration 1", "description": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." }, "synonyms": [ { "id": "DOID:0110014", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110014", "name": "ARMD1", "description": "" }, { "id": "DOID:0110014", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110014", "name": "age related maculopathy 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "age related macular degeneration 1", "description": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "macular degeneration, age-related", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "ARMD1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "age related macular degeneration type 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "age related maculopathy 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "macular Degeneration, age-related, type 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "macular degeneration, age-related, reduced risk of", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "macular degeneration, age-related, 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "maculopathy, age-related, 1", "description": "" }, { "id": "MIM:603075", "resource": "MIM", "url": "https://www.omim.org/entry/603075", "name": "Macular degeneration, age-related, 1", "description": "Macular degeneration, age-related, 1" } ], "evidence": [ { "id": "0110014", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110014" } ] }, { "disease_id": "DOID:0110017", "recommended_name": { "id": "DOID:0110017", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110017", "name": "age related macular degeneration 4", "description": "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31." }, "synonyms": [ { "id": "DOID:0110017", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110017", "name": "ARMD4", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "age related macular degeneration 4", "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene." }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "ARMD4", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "CFH age-related macular degeneration", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "age related macular degeneration type 4", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "age-related macular degeneration caused by mutation in CFH", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "macular Degeneration, age-related, type 4", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "macular degeneration, age-related, 4", "description": "" }, { "id": "MIM:610698", "resource": "MIM", "url": "https://www.omim.org/entry/610698", "name": "Macular degeneration, age-related, 4", "description": "Macular degeneration, age-related, 4" } ], "evidence": [ { "id": "0110017", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110017" } ] }, { "disease_id": "DOID:11335", "recommended_name": { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs." }, "synonyms": [ { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "Boeck sarcoid", "description": "" }, { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "lymphogranulomatosis", "description": "" } ], "evidence": [ { "id": "11335", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ] }, { "disease_id": "DOID:12030", "recommended_name": { "id": "DOID:12030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12030", "name": "panuveitis", "description": "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid." }, "synonyms": [ { "id": "DOID:12030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12030", "name": "Diffuse uveitis", "description": "" } ], "evidence": [ { "id": "12030", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12030" } ] }, { "disease_id": "DOID:12554", "recommended_name": { "id": "DOID:12554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs." }, "synonyms": [ { "id": "DOID:12554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12554", "name": "haemolytic-uraemic syndrome", "description": "" }, { "id": "DOID:12554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12554", "name": "hemolytic uremic syndrome", "description": "" } ], "evidence": [ { "id": "12554", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ] }, { "disease_id": "DOID:12574", "recommended_name": { "id": "DOID:12574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12574", "name": "posterior uveitis", "description": "" }, "synonyms": [ { "id": "DOID:12574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12574", "name": "Uveitis, posterior", "description": "" } ], "evidence": [ { "id": "12574", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12574" } ] }, { "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:1407", "recommended_name": { "id": "DOID:1407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1407", "name": "anterior uveitis", "description": "" }, "synonyms": [], "evidence": [ { "id": "1407", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ] }, { "disease_id": "DOID:1686", "recommended_name": { "id": "DOID:1686", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function." }, "synonyms": [], "evidence": [ { "id": "1686", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ] }, { "disease_id": "DOID:1749", "recommended_name": { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells." }, "synonyms": [ { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "epidermoid carcinoma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "malignant squamous cell tumor", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous carcinoma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous cell Epithelioma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous cell cancer", "description": "" } ], "evidence": [ { "id": "1749", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ] }, { "disease_id": "DOID:2569", "recommended_name": { "id": "DOID:2569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2569", "name": "retinal drusen", "description": "" }, "synonyms": [], "evidence": [ { "id": "2569", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2569" } ] }, { "disease_id": "DOID:3454", "recommended_name": { "id": "DOID:3454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain." }, "synonyms": [], "evidence": [ { "id": "3454", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ] }, { "disease_id": "DOID:3498", "recommended_name": { "id": "DOID:3498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells." }, "synonyms": [ { "id": "DOID:3498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3498", "name": "ductal adenocarcinoma of the pancreas", "description": "" } ], "evidence": [ { "id": "3498", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ] }, { "disease_id": "DOID:4448", "recommended_name": { "id": "DOID:4448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss." }, "synonyms": [ { "id": "DOID:4448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4448", "name": "Macular degeneration of retina", "description": "" } ], "evidence": [ { "id": "4448", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ] }, { "disease_id": "DOID:5327", "recommended_name": { "id": "DOID:5327", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5327", "name": "retinal detachment", "description": "" }, "synonyms": [ { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "detached retina", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retina, detached", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "detached retina", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retina, detached", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "" } ], "evidence": [ { "id": "5327", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ] }, { "disease_id": "DOID:670", "recommended_name": { "id": "DOID:670", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences." }, "synonyms": [], "evidence": [ { "id": "670", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:670" } ] }, { "disease_id": "DOID:8893", "recommended_name": { "id": "DOID:8893", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales." }, "synonyms": [ { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "HLA-C psoriasis", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis caused by mutation in HLA-C", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis susceptibility 1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "PSORS1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "susceptibility to psoriasis 1", "description": "" }, { "id": "MIM:177900", "resource": "MIM", "url": "https://www.omim.org/entry/177900", "name": "Psoriasis 1", "description": "Psoriasis 1" } ], "evidence": [ { "id": "8893", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ] }, { "disease_id": "DOID:8947", "recommended_name": { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "Retinal abnormality - diabetes-related", "description": "" } ], "evidence": [ { "id": "8947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "Lupus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus, susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess lymphocyte low molecular weight DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus nephritis, susceptibility to", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus type 16", "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K975", "url": "https://www.uniprot.org/uniprot/A0A0G2K975" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "gene": [ { "name": "Cfhr4", "url": "https://www.uniprot.org/uniprot/A0A0G2K975", "locus": { "chromosome": "13", "start_pos": 51422592, "end_pos": 51491502, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000042369", "url": "https://www.ensembl.org/id/ENSRNOG00000042369" } ] } } ], "crossref": [ { "id": "A0A0G2K975", "url": "https://alphafold.ebi.ac.uk/entry/A0A0G2K975", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSRNOG00000030715", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000030715", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "ENSRNOG00000042369", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000042369", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00033", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00033", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "498241", "url": "https://www.ncbi.nlm.nih.gov/gene/498241", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000436", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000436", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035976", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035976", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR051503", "url": "https://www.ebi.ac.uk/interpro/entry/IPR051503", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:498241", "url": "https://www.genome.jp/dbget-bin/www_bget?rno:498241", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "LAPCTIT", "url": "https://omabrowser.org/oma/group/LAPCTIT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "G3V7P5", "url": "https://www.orthodb.org/?gene=G3V7P5", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45785", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45785", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45785:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45785:SF14", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00084", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00084", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "1564614", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1564614", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2K975", "url": "https://www.uniprot.org/uniprot/A0A0G2K975", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2K975-1", "url": "https://www.uniprot.org/uniprot/A0A0G2K975-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1M983", "url": "https://www.uniprot.org/uniprot/F1M983", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F1M983-1", "url": "https://www.uniprot.org/uniprot/F1M983-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V7P5", "url": "https://www.uniprot.org/uniprot/G3V7P5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V7P5-1", "url": "https://www.uniprot.org/uniprot/G3V7P5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRFYSIWLLANILLITSLSTAKGEVKKCNFSQIKNGHLYKGDIYRFYLAISTEKEFRYYCNSGFVTPSGSHSDYLRCTIQGWEPAVPCLKECVLHYVENGYSLFLERKFVQDQSVKVNCYKGFNLPNGQDTITCTESGWTPQPICIPSETCSKSDIEIDNGFFSESDLTYAVNRKTRYVCKQGYTTANGERSGSITCLQTGWSAQPSCIKSCDVPVFENAKSKNDSTWFKLNDKLDYECHIGYENKYKHTKGSIMCTTDGWSDKPSCYEIECSIPILDPRLVVYPRKIKYTVGDLLKFSCRPGHRVGPDSVQCYDFGWSPSFPTCKGQVRSCGQYPELLNGEIKGTKKAEYSHGDVVEYDCKPRFLLKGPNKIQCVDGKWTTLPTCVEEKRTCGDIPALEHGSVKFSVPPYHHGDSVEFTCAETFTMIGQRSVSCISGRWAQLPRCVATVQLEKCKAPRLAVIGANKLEKDGLNHNSSISYKCRGSQKYGYSICINGRWDPEPTCTRKEKAFCPPPPQIPNAQVIDTTVKYLDGEKVSVLCQDGYLTQGPEEMVCKHGRWQSLPRCTAKITCSQPPKIDHGSIKLPRLSDAGRDAIDSSSHEHGTTFSYVCDDGFRISKENGVTCHMGKWSSPPRCVESTGKCGPPPTIENGDITSLSLPVYAPLSSVEYQCQSFYKMQGSKKITCKNGEWEEPPKCLHACVLTEEIMRRQNIIPKRTKNKKIYIQSGDYVEFVCLTAYQKAQGSPEFRTQCIDGHINYPTCSK", "length": 764, "header": "tr|A0A0G2K975-1|A0A0G2K975_RAT Isoform 1 of Complement factor H-related 4 OS=Rattus norvegicus OX=10116 GN=Cfhr4 PE=1 SV=1 CANONICAL=A0A0G2K975-1" }, "isoforms": [ { "isoform_ac": "A0A0G2K975-1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K975/entry#A0A0G2K975-1", "sequence": { "sequence": "MRFYSIWLLANILLITSLSTAKGEVKKCNFSQIKNGHLYKGDIYRFYLAISTEKEFRYYCNSGFVTPSGSHSDYLRCTIQGWEPAVPCLKECVLHYVENGYSLFLERKFVQDQSVKVNCYKGFNLPNGQDTITCTESGWTPQPICIPSETCSKSDIEIDNGFFSESDLTYAVNRKTRYVCKQGYTTANGERSGSITCLQTGWSAQPSCIKSCDVPVFENAKSKNDSTWFKLNDKLDYECHIGYENKYKHTKGSIMCTTDGWSDKPSCYEIECSIPILDPRLVVYPRKIKYTVGDLLKFSCRPGHRVGPDSVQCYDFGWSPSFPTCKGQVRSCGQYPELLNGEIKGTKKAEYSHGDVVEYDCKPRFLLKGPNKIQCVDGKWTTLPTCVEEKRTCGDIPALEHGSVKFSVPPYHHGDSVEFTCAETFTMIGQRSVSCISGRWAQLPRCVATVQLEKCKAPRLAVIGANKLEKDGLNHNSSISYKCRGSQKYGYSICINGRWDPEPTCTRKEKAFCPPPPQIPNAQVIDTTVKYLDGEKVSVLCQDGYLTQGPEEMVCKHGRWQSLPRCTAKITCSQPPKIDHGSIKLPRLSDAGRDAIDSSSHEHGTTFSYVCDDGFRISKENGVTCHMGKWSSPPRCVESTGKCGPPPTIENGDITSLSLPVYAPLSSVEYQCQSFYKMQGSKKITCKNGEWEEPPKCLHACVLTEEIMRRQNIIPKRTKNKKIYIQSGDYVEFVCLTAYQKAQGSPEFRTQCIDGHINYPTCSK", "length": 764, "header": "tr|A0A0G2K975-1|A0A0G2K975_RAT Isoform 1 of Complement factor H-related 4 OS=Rattus norvegicus OX=10116 GN=Cfhr4 PE=1 SV=1 CANONICAL=A0A0G2K975-1" }, "locus": { "chromosome": "13", "start_pos": 51491427, "end_pos": 51423161, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000083912.2", "url": "https://www.ensembl.org/id/ENSRNOT00000083912.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000074888.1", "url": "https://www.ensembl.org/id/ENSRNOP00000074888.1" } ] } }, { "isoform_ac": "F1M983-1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K975/entry#F1M983-1", "sequence": { "sequence": "MLLSGYKGKFKLVYFKLNEECVLHYVENGYSLFLERKFVQDQSVKVNCYKGFNLPNGQDTITCTESGWTPQPICIPSETCSKSDIEIDNGFFSESDLTYAVNRKTRYVCKQGYTTANGERSGSITCLQTGWSAQPSCIKSCDVPVFENAKSKNDSTWFKLNDKLDYECHIGYENKYKHTKGSIMCTTDGWSDKPSCYEIECSIPILDPRLVVYPRKIKYTVGDLLKFSCRPGHRVGPDSVQCYDFGWSPSFPTCKGQVRSCGQYPELLNGEIKGTKKAEYSHGDVVEYDCKPRFLLKGPNKIQCVDGKWTTLPTCVEEKRTCGDIPALEHGSVKFSVPPYHHGDSVEFTCAETFTMIGQRSVSCISGRWAQLPRCVATVQLEKCKAPRLAVIGANKLEKDGLNHNSSISYKCRGSQKYGYSICINGRWDPEPTCTRKEKAFCPPPPQIPNAQVIDTTVKYLDGEKVSVLCQDGYLTQGPEEMVCKHGRWQSLPRCTAKITCSQPPKIDHGSIKLPRLSDAGRDAIDSSSHEHGTTFSYVCDDGFRISKENGVTCHMGKWSSPPRCVESTGKCGPPPTIENGDITSLSLPVYAPLSSVEYQCQSFYKMQGSKKITCKNGEWEEPPKCLHACVLTEEIMRRQNIIPKRTKNKKIYIQSGDYVEFVCLTAYQKAQGSPEFRTQCIDGHINYPTCSK", "length": 693, "header": "tr|F1M983-1|A0A0G2K975_RAT Computationally mapped isoform of Complement factor H-related 4 OS=Rattus norvegicus OX=10116 GN=Cfhr4 PE=1 SV=2 CANONICAL=A0A0G2K975-1" }, "locus": { "chromosome": "13", "start_pos": 51474548, "end_pos": 51423161, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000017749.7", "url": "https://www.ensembl.org/id/ENSRNOT00000017749.7" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000017749.6", "url": "https://www.ensembl.org/id/ENSRNOP00000017749.6" } ] } }, { "isoform_ac": "G3V7P5-1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K975/entry#G3V7P5-1", "sequence": { "sequence": "MRFYSIWLLANILLITSLSTAKGEEECVLHYVENGYSLFLERKFVQDQSVKVNCYKGFNLPNGQDTITCTESGWTPQPICIPSETCSKSDIEIDNGFFSESDLTYAVNRKTRYVCKQGYTTANGERSGSITCLQTGWSAQPSCIKSCDVPVFENAKSKNDSTWFKLNDKLDYECHIGYENKYKHTKGSIMCTTDGWSDKPSCYEIECSIPILDPRLVVYPRKIKYTVGDLLKFSCRPGHRVGPDSVQCYDFGWSPSFPTCKGQVRSCGQYPELLNGEIKGTKKAEYSHGDVVEYDCKPRFLLKGPNKIQCVDGKWTTLPTCVEEKRTCGDIPALEHGSVKFSVPPYHHGDSVEFTCAETFTMIGQRSVSCISGRWAQLPRCVATVQLEKCKAPRLAVIGANKLEKDGLNHNSSISYKCRGSQKYGYSICINGRWDPEPTCTRKEKAFCPPPPQIPNAQVIDTTVKYLDGEKVSVLCQDGYLTQGPEEMVCKHGRWQSLPRCTAKITCSQPPKIDHGSIKLPRLSDAGRDAIDSSSHEHGTTFSYVCDDGFRISKENGVTCHMGKWSSPPRCVESTGKCGPPPTIENGDITSLSLPVYAPLSSVEYQCQSFYKMQGSKKITCKNGEWEEPPKCLHACVLTEEIMRRQNIIPKRTKNKKIYIQSGDYVEFVCLTAYQKAQGSPEFRTQCIDGHINYPTCSK", "length": 699, "header": "tr|G3V7P5-1|A0A0G2K975_RAT Computationally mapped isoform of Complement factor H-related 4 OS=Rattus norvegicus OX=10116 GN=Cfhr4 PE=1 SV=1 CANONICAL=A0A0G2K975-1" }, "locus": { "chromosome": "13", "start_pos": 51491427, "end_pos": 51423161, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000017293.4", "url": "https://www.ensembl.org/id/ENSRNOT00000017293.4" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000017293.1", "url": "https://www.ensembl.org/id/ENSRNOP00000017293.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "rno:498241", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?rno:498241", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K975", "url": "https://www.uniprot.org/uniprot/A0A0G2K975" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K975", "url": "https://www.uniprot.org/uniprot/A0A0G2K975" } ], "pmid": "" }, { "name": "complement component C3b binding", "id": "GO:0001851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001851", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K975", "url": "https://www.uniprot.org/uniprot/A0A0G2K975" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K975", "url": "https://www.uniprot.org/uniprot/A0A0G2K975" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 224, "end_pos": 226, "annotation": "n_glycosylation_sequon" }, { "start_pos": 29, "end_pos": 31, "annotation": "n_glycosylation_sequon" }, { "start_pos": 476, "end_pos": 478, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [ { "pdb_id": "AF-A0A0G2K975-F1", "pdb_chain": "global", "start_pos": 1, "end_pos": 764, "overlap": "1.0", "method": "AlphaFold", "type": "alphafold", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/AF-A0A0G2K975-F1.pdb" } ], "synthesized_glycans": [], "enzyme_annotation": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 224, "end_pos": 226 }, { "start_pos": 29, "end_pos": 31 }, { "start_pos": 476, "end_pos": 478 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }