{ "uniprot_canonical_ac": "P02649-1", "uniprot_ac": "P02649", "uniprot_id": "APOE_HUMAN", "mass": { "chemical_mass": 36154.0, "monoisotopic_mass": 36154.0 }, "refseq": { "ac": "NP_001289618", "name": "apolipoprotein E isoform b precursor", "summary": "The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618" }, "gene_names": [ { "name": "APOE", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02649", "id": "P02649" }, { "name": "AD2; APO-E; ApoE4; LDLCQ5; LPG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618", "id": "NP_001289618" }, { "name": "APOE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618", "id": "NP_001289618" } ], "protein_names": [ { "name": "Apolipoprotein E", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02649" }, { "name": "Apo-E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02649" }, { "name": "apolipoprotein E isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618", "id": "NP_001289618" }, { "name": "apolipoprotein E3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618", "id": "NP_001289618" } ], "function": [ { "annotation": "(Microbial infection) Through its interaction with HCV envelope glycoprotein E2, participates in the attachment of HCV to HSPGs and other receptors (LDLr, VLDLr, and SR-B1) on the cell surface and to the assembly, maturation and infectivity of HCV viral particles (PubMed:25122793, PubMed:29695434). This interaction is probably promoted via the up-regulation of cellular autophagy by the virus (PubMed:29695434).", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649#function" }, { "database": "PubMed", "id": "29695434", "url": "https://glygen.org/publication/PubMed/29695434" }, { "database": "PubMed", "id": "25122793", "url": "https://glygen.org/publication/PubMed/25122793" } ] }, { "annotation": "APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:6860692, PubMed:1911868, PubMed:14754908). APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance (PubMed:6860692, PubMed:2762297, PubMed:1911868, PubMed:1917954, PubMed:9395455, PubMed:14754908, PubMed:23620513). Apolipoproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma (PubMed:6860692, PubMed:2762297, PubMed:9395455). As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL) but shows a preferential binding to high-density lipoproteins (HDL) (PubMed:6860692, PubMed:1911868). It also binds a wide range of cellular receptors including the LDL receptor/LDLR, the LDL receptor-related proteins LRP1, LRP2 and LRP8 and the very low-density lipoprotein receptor/VLDLR that mediate the cellular uptake of the APOE-containing lipoprotein particles (PubMed:2762297, PubMed:1917954, PubMed:7768901, PubMed:8939961, PubMed:12950167, PubMed:20030366, PubMed:2063194, PubMed:8756331, PubMed:20303980, PubMed:1530612, PubMed:7635945). Finally, APOE has also a heparin-binding activity and binds heparan-sulfate proteoglycans on the surface of cells, a property that supports the capture and the receptor-mediated uptake of APOE-containing lipoproteins by cells (PubMed:9395455, PubMed:9488694, PubMed:23676495, PubMed:7635945). A main function of APOE is to mediate lipoprotein clearance through the uptake of chylomicrons, VLDLs, and HDLs by hepatocytes (PubMed:1911868, PubMed:1917954, PubMed:9395455, PubMed:23676495, PubMed:29516132). APOE is also involved in the biosynthesis by the liver of VLDLs as well as their uptake by peripheral tissues ensuring the delivery of triglycerides and energy storage in muscle, heart and adipose tissues (PubMed:2762297, PubMed:29516132). By participating in the lipoprotein-mediated distribution of lipids among tissues, APOE plays a critical role in plasma and tissues lipid homeostasis (PubMed:2762297, PubMed:1917954, PubMed:29516132). APOE is also involved in two steps of reverse cholesterol transport, the HDLs-mediated transport of cholesterol from peripheral tissues to the liver, and thereby plays an important role in cholesterol homeostasis (PubMed:9395455, PubMed:14754908, PubMed:23620513). First, it is functionally associated with ABCA1 in the biogenesis of HDLs in tissues (PubMed:14754908, PubMed:23620513). Second, it is enriched in circulating HDLs and mediates their uptake by hepatocytes (PubMed:9395455). APOE also plays an important role in lipid transport in the central nervous system, regulating neuron survival and sprouting (PubMed:8939961, PubMed:25173806). APOE is also involved in innate and adaptive immune responses, controlling for instance the survival of myeloid-derived suppressor cells (By similarity). Binds to the immune cell receptor LILRB4 (PubMed:30333625). APOE may also play a role in transcription regulation through a receptor-dependent and cholesterol-independent mechanism, that activates MAP3K12 and a non-canonical MAPK signal transduction pathway that results in enhanced AP-1-mediated transcription of APP (PubMed:28111074).", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649#function" }, { "database": "UniProtKB", "id": "P08226", "url": "https://www.uniprot.org/uniprot/P08226#function" }, { "database": "PubMed", "id": "2063194", "url": "https://glygen.org/publication/PubMed/2063194" }, { "database": "PubMed", "id": "8756331", "url": "https://glygen.org/publication/PubMed/8756331" }, { "database": "PubMed", "id": "29516132", "url": "https://glygen.org/publication/PubMed/29516132" }, { "database": "PubMed", "id": "23620513", "url": "https://glygen.org/publication/PubMed/23620513" }, { "database": "PubMed", "id": "14754908", "url": "https://glygen.org/publication/PubMed/14754908" }, { "database": "PubMed", "id": "1911868", "url": "https://glygen.org/publication/PubMed/1911868" }, { "database": "PubMed", "id": "9488694", "url": "https://glygen.org/publication/PubMed/9488694" }, { "database": "PubMed", "id": "7768901", "url": "https://glygen.org/publication/PubMed/7768901" }, { "database": "PubMed", "id": "20030366", "url": "https://glygen.org/publication/PubMed/20030366" }, { "database": "PubMed", "id": "7635945", "url": "https://glygen.org/publication/PubMed/7635945" }, { "database": "PubMed", "id": "23676495", "url": "https://glygen.org/publication/PubMed/23676495" }, { "database": "PubMed", "id": "25173806", "url": "https://glygen.org/publication/PubMed/25173806" }, { "database": "PubMed", "id": "1530612", "url": "https://glygen.org/publication/PubMed/1530612" }, { "database": "PubMed", "id": "9395455", "url": "https://glygen.org/publication/PubMed/9395455" }, { "database": "PubMed", "id": "1917954", "url": "https://glygen.org/publication/PubMed/1917954" }, { "database": "PubMed", "id": "30333625", "url": "https://glygen.org/publication/PubMed/30333625" }, { "database": "PubMed", "id": "6860692", "url": "https://glygen.org/publication/PubMed/6860692" }, { "database": "PubMed", "id": "2762297", "url": "https://glygen.org/publication/PubMed/2762297" }, { "database": "PubMed", "id": "12950167", "url": "https://glygen.org/publication/PubMed/12950167" }, { "database": "PubMed", "id": "28111074", "url": "https://glygen.org/publication/PubMed/28111074" }, { "database": "PubMed", "id": "20303980", "url": "https://glygen.org/publication/PubMed/20303980" }, { "database": "PubMed", "id": "8939961", "url": "https://glygen.org/publication/PubMed/8939961" } ] }, { "annotation": "An exhausted-like microglial population accumulates in aged and APOE4 genotype Alzheimer's brains.", "evidence": [ { "database": "RefSeq", "id": "NP_001289618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618" }, { "database": "PubMed", "id": "38159571", "url": "https://glygen.org/publication/PubMed/38159571" } ] }, { "annotation": "Mild behavioral impairment in early Alzheimer's disease and its association with APOE and BDNF risk genetic polymorphisms. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001289618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618" }, { "database": "PubMed", "id": "38279143", "url": "https://glygen.org/publication/PubMed/38279143" } ] }, { "annotation": "Role of APOE in glaucoma. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001289618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618" }, { "database": "PubMed", "id": "38145596", "url": "https://glygen.org/publication/PubMed/38145596" } ] }, { "annotation": "The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001289618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618" } ] }, { "annotation": "[Association of lifestyle and apolipoprotein E gene with risk for cognitive frailty in elderly population in China].", "evidence": [ { "database": "RefSeq", "id": "NP_001289618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289618" }, { "database": "PubMed", "id": "38228523", "url": "https://glygen.org/publication/PubMed/38228523" } ] } ], "disease": [ { "disease_id": "DOID:0110035", "recommended_name": { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "Alzheimer's disease 2", "description": "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." }, "synonyms": [ { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "AD2", "description": "" }, { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "Alzheimer disease 2, late onset", "description": "" }, { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "Alzheimer disease associated with APOE4", "description": "" }, { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "Alzheimer disease-2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease 2", "description": "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "AD2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease 2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease 2, late onset", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease associated with APOE E4", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease associated with APOE4", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease type 2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease-2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer's disease 2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer's disease type 2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "late onset Alzheimer disease", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "late onset familial Alzheimer disease", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "late-onset familial alzheimer disease", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease 2, late-onset", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "LOFAD", "description": "" }, { "id": "MIM:104310", "resource": "MIM", "url": "https://www.omim.org/entry/104310", "name": "Alzheimer disease 2", "description": "Alzheimer disease 2" } ], "evidence": [ { "id": "104310", "database": "MIM", "url": "https://www.omim.org/entry/104310" } ] }, { "disease_id": "DOID:3145", "recommended_name": { "id": "DOID:3145", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3145", "name": "hyperlipoproteinemia type III", "description": "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13." }, "synonyms": [ { "id": "DOID:3145", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3145", "name": "Remnant hyperlipidemia", "description": "" }, { "id": "DOID:3145", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3145", "name": "carbohydrate induced hyperlipemia", "description": "" }, { "id": "DOID:3145", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3145", "name": "familial hypercholesterolaemia with hyperlipaemia", "description": "" }, { "id": "DOID:3145", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3145", "name": "familial type 3 hyperlipoproteinemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "hyperlipoproteinemia type 3", "description": "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "Broad-betalipoproteinemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "HLP type 3", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "carbohydrate induced hyperlipemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "dyslipidaemia type 3", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "dyslipidemia type 3", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "familial dysbetalipoproteinemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "familial hyperlipoproteinemia type 3", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "familial type 3 hyperlipoproteinemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "hyperlipidemia type 3", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "hyperlipoproteinemia type III", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "remnant disease", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "remnant hyperlipidemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "Broad beta disease", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "apolipoprotein E, deficiency or defect of", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "coronary artery disease, Severe, Susceptibility to", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "dysbetalipoproteinemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "dysbetalipoproteinemia due to defect in apolipoprotein E-D", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "familial Hyperbeta- and Prebetalipoproteinemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "familial hypercholesterolaemia with hyperlipaemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "familial hypercholesterolemia with hyperlipemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "floating-betalipoproteinemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "hyperlipemia with Familial Hypercholesterolemic xanthomatosis", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "hyperlipoproteinemia, type III", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "low density lipoprotein cholesterol level quantitative trait locus 5", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "remnant removal disease", "description": "" }, { "id": "MIM:617347", "resource": "MIM", "url": "https://www.omim.org/entry/617347", "name": "Hyperlipoproteinemia 3", "description": "Hyperlipoproteinemia 3" } ], "evidence": [ { "id": "617347", "database": "MIM", "url": "https://www.omim.org/entry/617347" } ] }, { "disease_id": "DOID:4423", "recommended_name": { "id": "DOID:4423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4423", "name": "sea-blue histiocytosis", "description": "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids." }, "synonyms": [ { "id": "DOID:4423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4423", "name": "Sea-blue histiocyte syndrome", "description": "" }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "sea-blue histiocyte syndrome", "description": "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "SEA-blue histiocyte disease", "description": "" }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "histiocytosis, Sea-blue", "description": "" }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "inherited Lipemic splenomegaly", "description": "" }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "sea-blue histiocytosis", "description": "" }, { "id": "MIM:269600", "resource": "MIM", "url": "https://www.omim.org/entry/269600", "name": "Sea-blue histiocyte disease", "description": "Sea-blue histiocyte disease" } ], "evidence": [ { "id": "269600", "database": "MIM", "url": "https://www.omim.org/entry/269600" } ] }, { "disease_id": "MONDO:0012725", "recommended_name": { "id": "MONDO:0012725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012725", "name": "lipoprotein glomerulopathy", "description": "" }, "synonyms": [ { "id": "MONDO:0012725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012725", "name": "LPG", "description": "" }, { "id": "MONDO:0012725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012725", "name": "lipoprotein glomerulopathy", "description": "" }, { "id": "MIM:611771", "resource": "MIM", "url": "https://www.omim.org/entry/611771", "name": "Lipoprotein glomerulopathy", "description": "Lipoprotein glomerulopathy" } ], "evidence": [ { "id": "611771", "database": "MIM", "url": "https://www.omim.org/entry/611771" } ] } ], "snv": [ { "evidence": [ { "id": "rs11542027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11542027" }, { "id": "rs11542027", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs11542027#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 215, "end_pos": 215, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "19", "chr_pos": "44908940", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1009671345", "database": "dbSNP", "url": 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"MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P02649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02649" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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Isoform 1 of Apolipoprotein E OS=Homo sapiens OX=9606 GN=APOE PE=1 SV=1 CANONICAL=P02649-1" }, "isoforms": [ { "isoform_ac": "E7ERP7-1", "url": "", "sequence": { "sequence": "MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQ", "length": 219, "header": "tr|E7ERP7-1|APOE_HUMAN Computationally mapped isoform of Apolipoprotein E OS=Homo sapiens OX=9606 GN=APOE PE=1 SV=1 CANONICAL=P02649-1" }, "locus": { "chromosome": "19", "start_pos": 44908953, "end_pos": 44906625, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425718.1", "url": "https://www.ensembl.org/id/ENST00000425718.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000410423.1", "url": "https://www.ensembl.org/id/ENSP00000410423.1" } ] } }, { "isoform_ac": "E9PEV4-1", "url": "", "sequence": { "sequence": "MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSL", "length": 216, "header": "tr|E9PEV4-1|APOE_HUMAN Computationally mapped isoform of Apolipoprotein E OS=Homo sapiens OX=9606 GN=APOE PE=1 SV=1 CANONICAL=P02649-1" }, "locus": { "chromosome": "19", "start_pos": 44908944, "end_pos": 44906625, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446996.5", "url": "https://www.ensembl.org/id/ENST00000446996.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413135.1", "url": "https://www.ensembl.org/id/ENSP00000413135.1" } ] } }, { "isoform_ac": "H0Y7L5-1", "url": "", "sequence": { "sequence": "MSSGASRKSWDPGNPWPPDWPITGRKMKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERAQAWGERLRARMEEMGSRT", "length": 269, "header": "tr|H0Y7L5-1|APOE_HUMAN Computationally mapped isoform of Apolipoprotein E OS=Homo sapiens OX=9606 GN=APOE PE=1 SV=2 CANONICAL=P02649-1" }, "locus": { "chromosome": "19", "start_pos": 44909025, "end_pos": 44905869, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434152.5", "url": "https://www.ensembl.org/id/ENST00000434152.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413653.2", "url": "https://www.ensembl.org/id/ENSP00000413653.2" } ] } }, { "isoform_ac": "P02649-1", "url": "", "sequence": { "sequence": "MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKSWFEPLVEDMQRQWAGLVEKVQAAVGTSAAPVPSDNH", "length": 317, "header": "sp|P02649-1|APOE_HUMAN Isoform 1 of Apolipoprotein E OS=Homo sapiens OX=9606 GN=APOE PE=1 SV=1 CANONICAL=P02649-1" }, "locus": { "chromosome": "19", "start_pos": 44909247, "end_pos": 44906625, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000252486.9", "url": "https://www.ensembl.org/id/ENST00000252486.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000252486.3", "url": "https://www.ensembl.org/id/ENSP00000252486.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "AATVGSLAGQPLQER", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 210, "start_aa": "Ala", "end_pos": 224, "end_aa": "Arg", "evidence": [ { "id": "P02649", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 212, "start_aa": "Thr", "end_pos": 212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr212", "evidence": [ { "id": "P02649", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 212, "start_aa": "Thr", "end_pos": 212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr212", "evidence": [ { "id": "648", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/648" }, { "id": "23234360", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23234360" }, { "id": "19838169", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19838169" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 212, "start_aa": "Thr", "end_pos": 212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr212", "evidence": [ { "id": "P02649", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" }, { "id": "23234360", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23234360" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 212, "start_aa": "Thr", "end_pos": 212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr212", "evidence": [ { "id": "P02649", "database": "UniCarbKB", "url": "" }, { "id": "23234360", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23234360" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 212, "start_aa": "Thr", "end_pos": 212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr212", "evidence": [ { "id": "P02649", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G63628AV", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 212, "start_aa": "Thr", "end_pos": 212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr212", "evidence": [ { "id": "648", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/648" }, { "id": "23234360", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23234360" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked 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"url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "low-density lipoprotein particle remodeling", "id": "GO:0034374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034374", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "amyloid precursor protein metabolic process", "id": "GO:0042982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042982", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "nitric oxide mediated signal transduction", "id": "GO:0007263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007263", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of axon extension", "id": "GO:0030516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030516", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of Cdc42 protein signal transduction", "id": "GO:0032489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032489", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of nitric-oxide synthase activity", "id": "GO:0051000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051000", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "high-density lipoprotein particle assembly", "id": "GO:0034380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034380", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell migration", "id": "GO:0010596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010596", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta clearance", "id": "GO:1900223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900223", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of phospholipid efflux", "id": "GO:1902995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902995", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "cholesterol catabolic process", "id": "GO:0006707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006707", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "melanosome organization", "id": "GO:0032438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "high-density lipoprotein particle clearance", "id": "GO:0034384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034384", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of blood coagulation", "id": "GO:0030195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030195", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle remodeling", "id": "GO:0034372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034372", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle clearance", "id": "GO:0034447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034447", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "intracellular transport", "id": "GO:0046907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046907", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "response to dietary excess", "id": "GO:0002021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002021", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of neuronal synaptic plasticity", "id": "GO:0048168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048168", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "chylomicron remnant clearance", "id": "GO:0034382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034382", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "lipoprotein catabolic process", "id": "GO:0042159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042159", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of platelet activation", "id": "GO:0010544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010544", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "lipid transport involved in lipid storage", "id": "GO:0010877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010877", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "long-chain fatty acid transport", "id": "GO:0015909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015909", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "protein import", "id": "GO:0017038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017038", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "virion assembly", "id": "GO:0019068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019068", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "cGMP-mediated signaling", "id": "GO:0019934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019934", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein particle receptor catabolic process", "id": "GO:0032805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032805", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation by host of viral process", "id": "GO:0044794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044794", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of cholesterol biosynthetic process", "id": "GO:0045541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045541", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "maintenance of location in cell", "id": "GO:0051651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051651", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of cholesterol metabolic process", "id": "GO:0090205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090205", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "AMPA glutamate receptor clustering", "id": "GO:0097113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097113", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "NMDA glutamate receptor clustering", "id": "GO:0097114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097114", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of amyloid-beta clearance", "id": "GO:1900221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900221", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine maintenance", "id": "GO:1902952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902952", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of lipid transport across blood-brain barrier", "id": "GO:1903002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903002", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "positive regulation of heparan sulfate proteoglycan binding", "id": "GO:1905860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905860", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of cellular response to very-low-density lipoprotein particle stimulus", "id": "GO:1905890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905890", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of behavioral fear response", "id": "GO:2000822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000822", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "regulation of proteasomal protein catabolic process", "id": "GO:0061136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061136", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of amyloid fibril formation", "id": "GO:1905907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905907", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "negative regulation of protein metabolic process", "id": "GO:0051248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051248", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "triglyceride-rich lipoprotein particle clearance", "id": "GO:0071830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071830", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "intermediate-density lipoprotein particle clearance", "id": "GO:0071831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071831", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 21, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan binding", "id": "GO:0043395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043395", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "phosphatidylcholine-sterol O-acyltransferase activator activity", "id": "GO:0060228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060228", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle receptor binding", "id": "GO:0070326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070326", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "metal chelating activity", "id": "GO:0046911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046911", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "apolipoprotein E O-glycosylated 1 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Ser-215 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02649-1, Ser-215, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052484", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052484" } ] }, { "name": "apolipoprotein E O-glycosylated 2 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Ser-308 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02649-1, Ser-308, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052485", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052485" } ] }, { "name": "apolipoprotein E O-glycosylated 3 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Ser-308 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02649-1, Ser-308, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:23234360, PMID:30459171]", "evidence": [ { "id": "PR:000052486", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052486" } ] }, { "name": "apolipoprotein E O-glycosylated 4 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Ser-314 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02649-1, Ser-314, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:23234360]", "evidence": [ { "id": "PR:000052487", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052487" } ] }, { "name": "apolipoprotein E O-glycosylated 5 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Thr-212 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02649-1, Thr-212, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052488", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052488" } ] }, { "name": "apolipoprotein E O-glycosylated 6 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Thr-212 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02649-1, Thr-212, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:23234360, PMID:30459171]", "evidence": [ { "id": "PR:000052489", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052489" } ] }, { "name": "apolipoprotein E O-glycosylated 7 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Thr-212 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P02649-1, Thr-212, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:23234360]", "evidence": [ { "id": "PR:000052490", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052490" } ] }, { "name": "apolipoprotein E O-glycosylated 8 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Thr-26 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02649-1, Thr-26, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:23234360]", "evidence": [ { "id": "PR:000052491", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052491" } ] }, { "name": "apolipoprotein E O-glycosylated 9 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Thr-307 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02649-1, Thr-307, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052492", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052492" } ] }, { "name": "apolipoprotein E O-glycosylated 10 (human)", "definition": "An apolipoprotein E (human) that has been O-glycosylated at the residue equivalent to Thr-36 of the amino acid sequence represented by UniProtKB:P02649-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02649-1, Thr-36, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:23234360, PMID:30459171]", "evidence": [ { "id": "PR:000052493", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052493" } ] } ], "site_annotation": [], "ptm_annotation": [ { "annotation": "APOE exists as multiple glycosylated and sialylated glycoforms within cells and in plasma (PubMed:29516132). The extent of glycosylation and sialylation are tissue and context specific (PubMed:29516132). Plasma APOE undergoes desialylation and is less glycosylated and sialylated than the cellular form (PubMed:2498325, PubMed:19838169, PubMed:20511397, PubMed:23234360). Glycosylation is not required for proper expression and secretion (PubMed:2498325). O-glycosylated with core 1 or possibly core 8 glycans. Thr-307 and Ser-314 are minor glycosylation sites compared to Ser-308 (PubMed:19838169, PubMed:23234360).", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" }, { "database": "PubMed", "id": "19838169", "url": "https://glygen.org/publication/PubMed/19838169" }, { "database": "PubMed", "id": "23234360", "url": "https://glygen.org/publication/PubMed/23234360" }, { "database": "PubMed", "id": "2498325", "url": "https://glygen.org/publication/PubMed/2498325" }, { "database": "PubMed", "id": "29516132", "url": "https://glygen.org/publication/PubMed/29516132" }, { "database": "PubMed", "id": "20511397", "url": "https://glygen.org/publication/PubMed/20511397" } ] }, { "annotation": "Glycated in plasma VLDL of normal subjects, and of hyperglycemic diabetic patients at a higher level (2-3 fold).", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" }, { "database": "PubMed", "id": "10452964", "url": "https://glygen.org/publication/PubMed/10452964" } ] }, { "annotation": "Phosphorylated by FAM20C in the extracellular medium.", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ] }, { "annotation": "Undergoes C-terminal proteolytic processing in neurons. C-terminally truncated APOE has a tendency to form neurotoxic intracellular neurofibrillary tangle-like inclusions in neurons.", "evidence": [ { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649" }, { "database": "PubMed", "id": "11447277", "url": "https://glygen.org/publication/PubMed/11447277" } ] } ], "interactions": [ { "interactor_id": "G19059PI", "interaction_name": "matrixdb:Chondroitin Sulfate A(short label)", "interaction_type": "Glycosaminoglycan", "evidence": [ { "database": "MatrixDB", "id": "GAG_4", "url": "http://matrixdb.univ-lyon1.fr/cgi-bin/current/newPort?type=biomolecule&value=GAG_4" }, { "database": "PubMed", "id": "10526164", "url": "https://glygen.org/publication/PubMed/10526164" } ] } ], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 26, 34, 36, 210, 212, 215, 301, 307, 308, 314 ], "snv_sites": [ 215, 241, 307, 308, 314 ], "glycation_sites": [ 93 ], "phosphorylation_sites": [ 147, 241 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 33 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 7 }, { "field": "o_linked_glycan_sites", "count": 14 } ], "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": 6 }, { "field": "total_sites", "count": 6 }, { "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": 6 } ], "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": 27 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 7 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 374 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }