APOC3 (apolipoprotein C3) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: APOC3 (apolipoprotein C3) Homo sapiens
Analyze
Symbol: APOC3
Name: apolipoprotein C3
RGD ID: 737569
HGNC Page HGNC:610
Description: Enables high-density lipoprotein particle receptor binding activity; lipase inhibitor activity; and phospholipid binding activity. Involved in several processes, including lipid transport; negative regulation of lipid metabolic process; and negative regulation of lipoprotein particle clearance. Located in extracellular space. Part of chylomicron; spherical high-density lipoprotein particle; and triglyceride-rich plasma lipoprotein particle. Implicated in several diseases, including apolipoprotein C-III deficiency; chronic kidney disease; familial hyperlipidemia (multiple); glucose metabolism disease (multiple); and hepatocellular carcinoma. Biomarker of several diseases, including carcinoma (multiple); chronic kidney disease (multiple); diabetes mellitus (multiple); lupus nephritis; and renal artery obstruction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Apo-C3; apo-CIII; ApoC-3; apoC-III; APOCIII; apolipoprotein C-III; HALP2; MGC150353
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811116,829,907 - 116,833,072 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11116,829,706 - 116,833,072 (+)EnsemblGRCh38hg38GRCh38
GRCh3711116,700,623 - 116,703,788 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,205,834 - 116,208,997 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411116,205,833 - 116,208,997NCBI
Celera11113,858,439 - 113,861,589 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,632,897 - 112,636,045 (+)NCBIHuRef
CHM1_111116,585,371 - 116,588,539 (+)NCBICHM1_1
T2T-CHM13v2.011116,845,008 - 116,848,178 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
apolipoprotein C-III deficiency  (EXP,IAGP)
breast cancer  (IEP)
cardiovascular system disease  (EXP)
CD3epsilon deficiency  (IAGP)
celiac disease  (EXP)
cholestasis  (ISO)
Chromosome 11, Partial Trisomy 11q  (IAGP)
chronic kidney disease  (IDA,IEP)
cognitive disorder  (IAGP)
colorectal cancer  (IEP)
coronary artery disease  (EXP,IAGP,IEA)
Coronary Disease  (IAGP)
diabetes mellitus  (IEP)
Diabetic Nephropathies  (IAGP)
diabetic retinopathy  (IEP)
Drug Eruptions  (EXP)
Dwarfism  (IAGP)
end stage renal disease  (IEP)
familial combined hyperlipidemia  (IAGP,ISO)
familial hyperlipidemia  (ISO)
gastric adenocarcinoma  (IEP)
genetic disease  (IAGP)
glucose intolerance  (IAGP)
Hantavirus hemorrhagic fever with renal syndrome  (IEP)
hepatocellular carcinoma  (IAGP,IEP)
Hypercholesterolemia  (IAGP)
Hyperlipoproteinemia Type II  (EXP)
hyperlipoproteinemia type III  (IAGP)
Hyperlipoproteinemias  (EXP)
hyperthyroidism  (ISO)
Hypertriglyceridemia  (IAGP)
hypothyroidism  (ISO)
immunodeficiency 17  (IAGP)
immunodeficiency 18  (IAGP)
immunodeficiency 19  (IAGP)
inflammatory bowel disease 28  (IAGP)
Insulin Resistance  (ISO)
intellectual disability  (IAGP)
isolated microphthalmia 5  (IAGP)
lung adenocarcinoma  (IEP)
Lung Neoplasms  (EXP)
lung small cell carcinoma  (IEP)
lupus nephritis  (IEP)
Metabolic Syndrome  (IAGP,IEP)
myocardial infarction  (IAGP,IEA)
nephroblastoma  (IEP)
nephronophthisis 15  (IAGP)
nephrotic syndrome  (IEP)
obesity  (IEA,IEP)
open-angle glaucoma  (IEP)
primary hypoalphalipoproteinemia 2  (IAGP)
RASopathy  (IAGP)
renal artery obstruction  (IEP)
type 1 diabetes mellitus  (IAGP,IEP,ISO)
Yin Deficiency  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-ephedrine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1-methylphenanthrene  (EXP)
1-nitropropane  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2,6-diaminotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-nitro-p-phenylenediamine  (ISO)
2-nitropropane  (ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-acetylaminofluorene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitro-1,2-phenylenediamine  (ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
allopurinol  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (EXP)
bexarotene  (ISO)
bezafibrate  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
caffeine  (EXP)
calcium dichloride  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
chenodeoxycholic acid  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
daunorubicin  (ISO)
dexamethasone  (ISO)
diamminedichloroplatinum  (EXP)
dibenz[a,h]anthracene  (EXP)
dibenzo[a,l]pyrene  (EXP)
diquat  (ISO)
ethanol  (ISO)
fenofibrate  (EXP,ISO)
fluoranthene  (EXP)
folpet  (ISO)
furan  (ISO)
gemfibrozil  (ISO)
ginsenoside Rf  (ISO)
high-density lipoprotein cholesterol  (EXP)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
indinavir  (EXP)
indometacin  (EXP,ISO)
L-methionine  (ISO)
linalool  (EXP,ISO)
menadione  (EXP)
mercaptopurine  (ISO)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
Muraglitazar  (EXP)
N-nitrosodiethylamine  (EXP)
nickel atom  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
olanzapine  (ISO)
oleic acid  (EXP)
oxybenzone  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
purine-6-thiol  (ISO)
quercetin  (EXP)
rifampicin  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulindac  (EXP)
Tesaglitazar  (EXP)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetramethylpyrazine  (EXP)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
transplatin  (EXP)
trichloroethene  (ISO)
troglitazone  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to glucose stimulus  (ISO)
cholesterol efflux  (IDA)
cholesterol homeostasis  (IBA,IEA,IMP)
cholesterol metabolic process  (ISO)
chylomicron remnant clearance  (IDA)
G protein-coupled receptor signaling pathway  (IDA)
high-density lipoprotein particle remodeling  (IMP)
lipid catabolic process  (IEA)
lipid transport  (IEA)
lipoprotein metabolic process  (IEA)
lipoprotein transport  (ISO)
negative regulation of cholesterol import  (IMP)
negative regulation of fatty acid biosynthetic process  (IDA)
negative regulation of high-density lipoprotein particle clearance  (IBA,IEA,IMP)
negative regulation of lipid catabolic process  (IDA)
negative regulation of lipid metabolic process  (IDA)
negative regulation of low-density lipoprotein particle clearance  (IBA,IEA,IMP)
negative regulation of oxidative phosphorylation  (ISO)
negative regulation of receptor-mediated endocytosis  (IDA)
negative regulation of triglyceride catabolic process  (IBA,IDA,IEA)
negative regulation of very-low-density lipoprotein particle clearance  (IBA,IDA,IEA)
negative regulation of very-low-density lipoprotein particle remodeling  (IC,IDA)
phospholipid efflux  (IDA)
positive regulation of triglyceride biosynthetic process  (ISO)
regulation of Cdc42 protein signal transduction  (IDA)
response to fatty acid  (ISO)
response to nutrient  (ISO)
response to peptide hormone  (ISO)
response to triglyceride  (ISO)
response to vitamin A  (ISO)
response to xenobiotic stimulus  (ISO)
reverse cholesterol transport  (IC)
triglyceride catabolic process  (IDA,ISO)
triglyceride homeostasis  (IBA,IEA,IMP)
triglyceride metabolic process  (IMP,ISO)
triglyceride mobilization  (ISO)
very-low-density lipoprotein particle assembly  (TAS)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Apolipoprotein A-I, A-II, B, C-II, and C-III in children with insulin-dependent diabetes mellitus. al Muhtaseb N, etal., Pediatrics. 1992 May;89(5 Pt 1):936-41.
2. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
3. Concurrent fatty liver increases risk of hepatocellular carcinoma among patients with chronic hepatitis B. Chan AW, etal., J Gastroenterol Hepatol. 2017 Mar;32(3):667-676. doi: 10.1111/jgh.13536.
4. Serum apolipoproteins C-I and C-III are reduced in stomach cancer patients: results from MALDI-based peptidome and immuno-based clinical assays. Cohen M, etal., PLoS One. 2011 Jan 18;6(1):e14540. doi: 10.1371/journal.pone.0014540.
5. Complex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes. Dallinga-Thie GM, etal., J Clin Invest. 1997 Mar 1;99(5):953-61.
6. Impact of APOA5/A4/C3 genetic polymorphisms on lipid variables and cardiovascular disease risk in French men. Dallongeville J, etal., Int J Cardiol. 2006 Jan 13;106(2):152-6.
7. Apolipoprotein C3 deficiency results in diet-induced obesity and aggravated insulin resistance in mice. Duivenvoorden I, etal., Diabetes. 2005 Mar;54(3):664-71.
8. Increased apolipoprotein C-III levels associated with insulin resistance contribute to dyslipidemia in normoglycemic and diabetic subjects from a triethnic population. Florez H, etal., Atherosclerosis. 2006 Sep;188(1):134-41. Epub 2005 Nov 18.
9. ApoC-III deficiency prevents hyperlipidemia induced by apoE overexpression. Gerritsen G, etal., J Lipid Res. 2005 Jul;46(7):1466-73. Epub 2005 May 1.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. Antisense oligonucleotide inhibition of apolipoprotein C-III reduces plasma triglycerides in rodents, nonhuman primates, and humans. Graham MJ, etal., Circ Res. 2013 May 24;112(11):1479-90. doi: 10.1161/CIRCRESAHA.111.300367. Epub 2013 Mar 29.
12. Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes. Henderson HE, etal., Hum Genet. 1987 Jan;75(1):62-5.
13. Susceptibility to type 1 diabetes is associated with ApoCIII gene haplotypes. Hokanson JE, etal., Diabetes. 2006 Mar;55(3):834-8.
14. Lowering apolipoprotein CIII delays onset of type 1 diabetes. Holmberg R, etal., Proc Natl Acad Sci U S A. 2011 Jun 28;108(26):10685-9. doi: 10.1073/pnas.1019553108. Epub 2011 Jun 13.
15. Lipoprotein composition in insulin-dependent diabetes mellitus with chronic renal failure: effect of kidney and pancreas transplantation. Hughes TA, etal., Metabolism. 1994 Mar;43(3):333-47.
16. Elevated levels of multiple biomarkers of Alzheimer's disease in the aqueous humor of eyes with open-angle glaucoma. Inoue T, etal., Invest Ophthalmol Vis Sci. 2013 Aug 9;54(8):5353-8. doi: 10.1167/iovs.13-12245.
17. Role of ApoCs in lipoprotein metabolism: functional differences between ApoC1, ApoC2, and ApoC3. Jong MC, etal., Arterioscler Thromb Vasc Biol. 1999 Mar;19(3):472-84.
18. Pattern of hyperlipoproteinemia in human nephrotic syndrome: influence of renal failure and diabetes mellitus. Joven J, etal., Nephron. 1993;64(4):565-9.
19. Effect of bile duct obstruction on the expression of intestinal mRNA related to cholesterol and bile acid metabolism in the rat. Kamisako T and Ogawa H, J Gastroenterol Hepatol. 2007 Jan;22(1):125-31.
20. Lack of association between genetic variations of apo A-I-C-III-A-IV gene cluster and myocardial infarction in a sample of European male: ECTIM study. Kee F, etal., Atherosclerosis. 1999 Jul;145(1):187-95.
21. Severely modified lipoprotein properties without a change in cholesteryl ester transfer protein activity in patients with acute renal failure secondary to Hantaan virus infection. Kim J, etal., BMB Rep. 2010 Aug;43(8):535-40.
22. Apolipoprotein C-III protein concentrations and gene polymorphisms in Type 1 diabetes: associations with microvascular disease complications in the DCCT/EDIC cohort. Klein RL, etal., J Diabetes Complications. 2005 Jan-Feb;19(1):18-25.
23. Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics Konemori G, etal., Nippon Ronen Igakkai Zasshi. 1990 Jan;27(1):22-7.
24. Oxidative stress and inflammation in renal patients and healthy subjects. Lee DM, etal., PLoS One. 2011;6(7):e22360. doi: 10.1371/journal.pone.0022360. Epub 2011 Jul 28.
25. Role of thyroid hormone in the expression of apolipoprotein A-IV and C-III genes in rat liver. Lin-Lee YC, etal., J Lipid Res. 1993 Feb;34(2):249-59.
26. Serum Protein KNG1, APOC3, and PON1 as Potential Biomarkers for Yin-Deficiency-Heat Syndrome. Liu C, etal., Evid Based Complement Alternat Med. 2016;2016:5176731. doi: 10.1155/2016/5176731. Epub 2016 Oct 24.
27. Association of Sst I polymorphism in apolipoprotein C3 gene with hypertriglyceridaemia in coronary atherosclerotic heart disease and type II diabetes mellitus in Chinese population. Liu HK, etal., Yi Chuan Xue Bao. 2005 Jan;32(1):11-8.
28. Identification and Validation of Stage-Associated Serum Biomarkers in Colorectal Cancer Using MS-Based Procedures. Marín-Vicente C, etal., Proteomics Clin Appl. 2020 Jan;14(1):e1900052. doi: 10.1002/prca.201900052. Epub 2019 Sep 18.
29. APOC3 Promoter Polymorphisms C-482T and T-455C Are Associated with the Metabolic Syndrome. Miller M, etal., Arch Med Res. 2007 May;38(4):444-51. Epub 2007 Mar 26.
30. Serum protein oxidation and apolipoprotein CIII levels in people with systemic lupus erythematosus with and without nephritis. Morgan PE, etal., Free Radic Res. 2007 Dec;41(12):1301-12.
31. Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 -455T>C polymorphisms on the susceptibility to diabetic nephropathy. Ng MC, etal., Clin Genet. 2006 Jul;70(1):20-8.
32. Lipoprotein abnormalities in patients with atherosclerotic renovascular disease. Nowakowska Fortuna E, etal., Kidney Blood Press Res. 2011;34(5):311-9. doi: 10.1159/000325648. Epub 2011 May 26.
33. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
34. Plasma apolipoprotein C-III metabolism in patients with chronic kidney disease. Ooi EM, etal., J Lipid Res. 2011 Apr;52(4):794-800. doi: 10.1194/jlr.M011163. Epub 2011 Feb 6.
35. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
36. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
37. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
38. Association between the SstI polymorphism of the apolipoprotein C-III gene, glucose intolerance and cardiovascular risk in renal transplant recipients. Rodrigo E, etal., Transplant Proc. 2002 Feb;34(1):379.
39. Isotretinoin and fenofibrate induce adiposity with distinct effect on metabolic profile in a rat model of the insulin resistance syndrome. Sedova L, etal., Int J Obes Relat Metab Disord. 2004 May;28(5):719-25.
40. Apolipoproteins as Differentiating and Predictive Markers for Assessing Clinical Outcomes in Patients with Small Cell Lung Cancer. Shi J, etal., Yonsei Med J. 2016 May;57(3):549-56. doi: 10.3349/ymj.2016.57.3.549.
41. Association of gene polymorphisms with coronary artery disease in individuals with or without nonfamilial hypercholesterolemia. Shimokata K, etal., Atherosclerosis. 2004 Jan;172(1):167-73.
42. The ApoAI-CIII-AIV gene cluster and its relation to lipid levels in type 2 diabetes mellitus and coronary heart disease: determination of a novel susceptible haplotype. Singh P, etal., Diab Vasc Dis Res. 2007 Jun;4(2):124-9.
43. Apolipoprotein C3 polymorphisms, cognitive function and diabetes in Caribbean origin Hispanics. Smith CE, etal., PLoS One. 2009;4(5):e5465. doi: 10.1371/journal.pone.0005465. Epub 2009 May 8.
44. Diagnostic and prognostic role of serum protein peak at 6449 m/z in gastric adenocarcinoma based on mass spectrometry. Song D, etal., Br J Cancer. 2016 Apr 12;114(8):929-38. doi: 10.1038/bjc.2016.52. Epub 2016 Mar 22.
45. Detection and identification of serum protein peak at 6648 m/z as a novel indicator in breast cancer based on mass spectrometry. Song D, etal., Discov Med. 2017 May;23(128):283-294.
46. Androgen receptor CAG repeat polymorphism is associated with serum testosterone levels, obesity and serum leptin in men with type 2 diabetes. Stanworth RD, etal., Eur J Endocrinol. 2008 Dec;159(6):739-46. Epub 2008 Sep 19.
47. Haplotypes of the ApoA-I/C-III/A-IV gene cluster and familial combined hyperlipidemia. Tahvanainen E, etal., Arterioscler Thromb Vasc Biol. 1998 Nov;18(11):1810-7.
48. The usefulness of measuring body fat deposition for detecting obesity and atherogenesity in Japanese school children. Takahashi H, etal., Acta Paediatr Jpn. 1996 Dec;38(6):634-9.
49. [Apolipoprotein C-II and C-III anomalies in normolipemic and hyperlipemic patients with chronic kidney failure]. Tornero F, etal., Nefrologia. 2000 Jan-Feb;20(1):47-53.
50. Targeted serum glycoproteomics for the discovery of lung cancer-associated glycosylation disorders using lectin-coupled ProteinChip arrays. Ueda K, etal., Proteomics. 2009 Apr;9(8):2182-92. doi: 10.1002/pmic.200800374.
51. Identification of potential serum biomarkers for Wilms tumor after excluding confounding effects of common systemic inflammatory factors. Wang J, etal., Mol Biol Rep. 2012 May;39(5):5095-104. doi: 10.1007/s11033-011-1305-1. Epub 2011 Dec 8.
52. Diagnostic and prognostic significance of mRNA expressions of apolipoprotein A and C family genes in hepatitis B virus-related hepatocellular carcinoma. Wang X, etal., J Cell Biochem. 2019 Oct;120(10):18246-18265. doi: 10.1002/jcb.29131. Epub 2019 Jun 18.
53. Genetic risk for coronary artery disease in individuals with or without type 2 diabetes. Yamada Y, etal., Mol Genet Metab. 2004 Apr;81(4):282-90.
54. An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population. Zeng Q, etal., Hum Genet. 1995 Apr;95(4):371-5.
Additional References at PubMed
PMID:182536   PMID:1917954   PMID:2022742   PMID:2989400   PMID:3095836   PMID:3123586   PMID:3931073   PMID:3931677   PMID:3935800   PMID:3949020   PMID:3973011   PMID:4020294  
PMID:4066713   PMID:4345202   PMID:4846755   PMID:6308458   PMID:6328445   PMID:6404278   PMID:6439535   PMID:6548954   PMID:8099442   PMID:8245722   PMID:8889549   PMID:9254056  
PMID:10870325   PMID:11060345   PMID:11116069   PMID:11126401   PMID:11152845   PMID:11162594   PMID:11171287   PMID:11181747   PMID:11193221   PMID:11270684   PMID:11282888   PMID:11284423  
PMID:11341749   PMID:11359462   PMID:11427182   PMID:11443500   PMID:11472750   PMID:11500189   PMID:11512679   PMID:11533368   PMID:11572515   PMID:11575217   PMID:11605014   PMID:11714857  
PMID:11737222   PMID:11740190   PMID:11752456   PMID:11837227   PMID:11839757   PMID:11840804   PMID:11893778   PMID:11903304   PMID:12048121   PMID:12048138   PMID:12052247   PMID:12082170  
PMID:12082592   PMID:12116231   PMID:12118856   PMID:12176399   PMID:12189450   PMID:12235176   PMID:12401896   PMID:12417525   PMID:12477932   PMID:12514935   PMID:12556235   PMID:12588953  
PMID:12600077   PMID:12676816   PMID:12691171   PMID:12692252   PMID:12697301   PMID:12732844   PMID:12754559   PMID:12782148   PMID:12962772   PMID:12964943   PMID:14517726   PMID:14563827  
PMID:14569462   PMID:14612212   PMID:14650351   PMID:14718574   PMID:15019539   PMID:15039125   PMID:15076187   PMID:15108119   PMID:15117734   PMID:15124908   PMID:15151505   PMID:15161788  
PMID:15174051   PMID:15175273   PMID:15292332   PMID:15304365   PMID:15364160   PMID:15375785   PMID:15488874   PMID:15489334   PMID:15542401   PMID:15549499   PMID:15576429   PMID:15576844  
PMID:15585206   PMID:15598690   PMID:15649902   PMID:15657615   PMID:15764642   PMID:15778093   PMID:15809899   PMID:15823278   PMID:15862889   PMID:15864534   PMID:15868628   PMID:15910632  
PMID:15924804   PMID:15949705   PMID:15962178   PMID:15983323   PMID:16015281   PMID:16030523   PMID:16136540   PMID:16192625   PMID:16205020   PMID:16276364   PMID:16326171   PMID:16343038  
PMID:16410456   PMID:16417409   PMID:16430904   PMID:16443932   PMID:16495512   PMID:16602826   PMID:16682041   PMID:16702309   PMID:16705465   PMID:16710093   PMID:16763159   PMID:16769999  
PMID:16781717   PMID:16861622   PMID:16864937   PMID:16917759   PMID:16935699   PMID:16968945   PMID:16973241   PMID:17016614   PMID:17020471   PMID:17032446   PMID:17038637   PMID:17142127  
PMID:17154273   PMID:17197160   PMID:17261136   PMID:17283453   PMID:17314277   PMID:17318300   PMID:17336988   PMID:17342071   PMID:17367769   PMID:17378725   PMID:17438339   PMID:17457002  
PMID:17615573   PMID:17672999   PMID:17700364   PMID:17726453   PMID:17825930   PMID:17853951   PMID:17855807   PMID:17885207   PMID:17919884   PMID:17964293   PMID:17996965   PMID:18020971  
PMID:18034366   PMID:18096054   PMID:18179892   PMID:18187430   PMID:18188530   PMID:18193043   PMID:18193044   PMID:18206649   PMID:18240956   PMID:18274205   PMID:18289550   PMID:18399797  
PMID:18408013   PMID:18509206   PMID:18513389   PMID:18541587   PMID:18556566   PMID:18560672   PMID:18566295   PMID:18635818   PMID:18660489   PMID:18678879   PMID:18753860   PMID:18767813  
PMID:18789138   PMID:18801202   PMID:18823627   PMID:18835943   PMID:19000312   PMID:19034316   PMID:19056482   PMID:19057464   PMID:19060906   PMID:19060911   PMID:19074352   PMID:19131662  
PMID:19166692   PMID:19207029   PMID:19263529   PMID:19336370   PMID:19336475   PMID:19403283   PMID:19479237   PMID:19501493   PMID:19502413   PMID:19534808   PMID:19578796   PMID:19592705  
PMID:19622837   PMID:19656773   PMID:19689828   PMID:19701693   PMID:19732897   PMID:19785722   PMID:19878569   PMID:19910636   PMID:19913121   PMID:19932084   PMID:19948975   PMID:20002542  
PMID:20031551   PMID:20071361   PMID:20097930   PMID:20139978   PMID:20303494   PMID:20331378   PMID:20335584   PMID:20368524   PMID:20452482   PMID:20517165   PMID:20536507   PMID:20602615  
PMID:20628086   PMID:20673868   PMID:20674306   PMID:20686565   PMID:20714348   PMID:20716347   PMID:20727869   PMID:20855565   PMID:20864672   PMID:21033077   PMID:21080234   PMID:21103663  
PMID:21183731   PMID:21185820   PMID:21274868   PMID:21321243   PMID:21373834   PMID:21378990   PMID:21421846   PMID:21499891   PMID:21603779   PMID:21646779   PMID:21663607   PMID:21676879  
PMID:21767760   PMID:21777557   PMID:21829161   PMID:21854571   PMID:21873635   PMID:21909109   PMID:21939545   PMID:21986282   PMID:21988832   PMID:22004016   PMID:22023023   PMID:22054125  
PMID:22101237   PMID:22141340   PMID:22197810   PMID:22211242   PMID:22286219   PMID:22301884   PMID:22675253   PMID:22848358   PMID:22916037   PMID:22924697   PMID:23173569   PMID:23376485  
PMID:23377670   PMID:23505323   PMID:23512881   PMID:23527852   PMID:23533145   PMID:23631828   PMID:23701270   PMID:23804528   PMID:23808989   PMID:24121499   PMID:24211975   PMID:24242684  
PMID:24343240   PMID:24386095   PMID:24430880   PMID:24685634   PMID:24707151   PMID:24941081   PMID:24941082   PMID:24966274   PMID:24972136   PMID:24981860   PMID:25301527   PMID:25319715  
PMID:25320541   PMID:25363704   PMID:25380998   PMID:25463085   PMID:25641685   PMID:25653052   PMID:25928461   PMID:25969425   PMID:25979856   PMID:25994187   PMID:25994465   PMID:26069232  
PMID:26117401   PMID:26228667   PMID:26247234   PMID:26301570   PMID:26387083   PMID:26435212   PMID:26452348   PMID:26485402   PMID:26491253   PMID:26516010   PMID:26625519   PMID:26782469  
PMID:26790392   PMID:26845356   PMID:27059980   PMID:27068509   PMID:27094595   PMID:27114411   PMID:27146844   PMID:27226540   PMID:27318213   PMID:27559042   PMID:27619170   PMID:27624799  
PMID:27650930   PMID:27713142   PMID:27770802   PMID:27794214   PMID:28159868   PMID:28159869   PMID:28245894   PMID:28441154   PMID:28473441   PMID:28635360   PMID:28641786   PMID:28694296  
PMID:28701354   PMID:28825717   PMID:28865324   PMID:28887372   PMID:29115584   PMID:29162127   PMID:29237685   PMID:29348120   PMID:29351856   PMID:29467335   PMID:29540426   PMID:29547399  
PMID:29793175   PMID:30021607   PMID:30026490   PMID:30097533   PMID:30249512   PMID:30255797   PMID:30380775   PMID:30422238   PMID:30580564   PMID:30602199   PMID:31753785   PMID:31795904  
PMID:31819254   PMID:31856839   PMID:32296183   PMID:32324598   PMID:32407781   PMID:32416067   PMID:32437778   PMID:32473635   PMID:32494907   PMID:32525256   PMID:32589506   PMID:33058850  
PMID:33115242   PMID:33294458   PMID:33303217   PMID:33334888   PMID:33389539   PMID:33477763   PMID:33580780   PMID:33609030   PMID:33753020   PMID:33934596   PMID:33961781   PMID:34022244  
PMID:34394242   PMID:34548093   PMID:34588185   PMID:34688878   PMID:34785554   PMID:34817888   PMID:35253629   PMID:35488290   PMID:35538496   PMID:35584319   PMID:35637531   PMID:35941108  
PMID:36008556   PMID:36040803   PMID:36361568   PMID:36689070   PMID:36774506   PMID:36855114   PMID:36876364   PMID:36921196   PMID:37044204   PMID:37866958   PMID:37902017   PMID:37972731  
PMID:38039351   PMID:38151342   PMID:38232538  


Genomics

Comparative Map Data
APOC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811116,829,907 - 116,833,072 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11116,829,706 - 116,833,072 (+)EnsemblGRCh38hg38GRCh38
GRCh3711116,700,623 - 116,703,788 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,205,834 - 116,208,997 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411116,205,833 - 116,208,997NCBI
Celera11113,858,439 - 113,861,589 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,632,897 - 112,636,045 (+)NCBIHuRef
CHM1_111116,585,371 - 116,588,539 (+)NCBICHM1_1
T2T-CHM13v2.011116,845,008 - 116,848,178 (+)NCBIT2T-CHM13v2.0
Apoc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39946,144,348 - 46,146,934 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl946,144,231 - 46,146,934 (-)EnsemblGRCm39 Ensembl
GRCm38946,233,050 - 46,235,636 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl946,232,933 - 46,235,636 (-)EnsemblGRCm38mm10GRCm38
MGSCv37946,041,134 - 46,043,380 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36945,984,046 - 45,986,292 (-)NCBIMGSCv36mm8
Celera943,522,002 - 43,524,237 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map925.36NCBI
Apoc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8855,428,172 - 55,430,352 (-)NCBIGRCr8
mRatBN7.2846,531,478 - 46,533,658 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl846,531,478 - 46,533,583 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx852,032,685 - 52,034,867 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0850,311,460 - 50,313,642 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0848,175,731 - 48,177,913 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0850,529,318 - 50,531,498 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl850,529,318 - 50,531,498 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0849,155,390 - 49,157,779 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.18159,618,812 - 159,618,833NCBI
Celera846,113,508 - 46,115,688 (-)NCBICelera
Cytogenetic Map8q22NCBI
Apoc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541218,165,667 - 18,168,015 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541218,165,667 - 18,168,015 (+)NCBIChiLan1.0ChiLan1.0
APOC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29117,533,589 - 117,536,588 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111118,638,797 - 118,641,800 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011111,667,816 - 111,670,861 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111115,600,416 - 115,603,460 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11115,600,416 - 115,603,460 (+)Ensemblpanpan1.1panPan2
APOC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1516,744,423 - 16,746,992 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl516,744,423 - 16,746,992 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha516,796,585 - 16,799,154 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0516,690,907 - 16,693,492 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl516,690,907 - 16,693,492 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1516,828,006 - 16,830,575 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0516,730,571 - 16,733,151 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0516,773,507 - 16,776,068 (-)NCBIUU_Cfam_GSD_1.0
Apoc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494799,184,897 - 99,187,178 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365422,106,318 - 2,108,603 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365422,106,927 - 2,108,412 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APOC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl944,211,194 - 44,213,533 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1944,211,171 - 44,213,538 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2949,283,407 - 49,285,786 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap9p13NCBI
APOC3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11108,196,283 - 108,199,274 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1108,196,939 - 108,199,342 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604317,851,374 - 17,853,839 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Apoc3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478412,244,646 - 12,246,790 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478412,244,565 - 12,246,790 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in APOC3
61 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000040.3(APOC3):c.280A>G (p.Thr94Ala) single nucleotide variant Apolipoprotein C-III, nonglycosylated [RCV000019491] Chr11:116832864 [GRCh38]
Chr11:116703580 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000040.3(APOC3):c.232A>G (p.Lys78Glu) single nucleotide variant Apolipoprotein c-III deficiency [RCV000019492] Chr11:116832816 [GRCh38]
Chr11:116703532 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) single nucleotide variant Apolipoprotein c-III deficiency [RCV000019493]|Coronary heart disease [RCV000128448]|not provided [RCV000419477]|not specified [RCV001251306] Chr11:116830637 [GRCh38]
Chr11:116701353 [GRCh37]
Chr11:11q23.3		 pathogenic|likely benign|conflicting interpretations of pathogenicity|protective
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 copy number gain See cases [RCV000053640] Chr11:116436425..118046231 [GRCh38]
Chr11:116307142..117916946 [GRCh37]
Chr11:115812352..117422156 [NCBI36]
Chr11:11q23.3		 pathogenic
NM_000040.3(APOC3):c.55+1G>A single nucleotide variant Apolipoprotein c-III deficiency [RCV000148017]|Cardiovascular phenotype [RCV002345442]|Coronary heart disease [RCV000128449]|not provided [RCV001401913]|not specified [RCV002271410] Chr11:116830638 [GRCh38]
Chr11:116701354 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|protective|uncertain significance
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr) single nucleotide variant Apolipoprotein c-III deficiency [RCV000148019]|Cardiovascular phenotype [RCV002371975]|Coronary heart disease [RCV000128450]|not provided [RCV001582598]|not specified [RCV003330497] Chr11:116830844 [GRCh38]
Chr11:116701560 [GRCh37]
Chr11:11q23.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|protective|uncertain significance
NM_000040.3(APOC3):c.179+1G>T single nucleotide variant Apolipoprotein c-III deficiency [RCV000148018]|Coronary heart disease [RCV000128451]|not specified [RCV000780860] Chr11:116830897 [GRCh38]
Chr11:116701613 [GRCh37]
Chr11:11q23.3		 pathogenic|likely benign|protective
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3 copy number gain See cases [RCV000137585] Chr11:115647670..117581883 [GRCh38]
Chr11:115518388..117452598 [GRCh37]
Chr11:115023598..116957808 [NCBI36]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:116801587-116880319)x3 copy number gain See cases [RCV000140064] Chr11:116801587..116880319 [GRCh38]
Chr11:116672303..116751035 [GRCh37]
Chr11:116177513..116256245 [NCBI36]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000040.3(APOC3):c.102T>C (p.Gly34=) single nucleotide variant Apolipoprotein c-III deficiency [RCV000614908]|Cardiovascular phenotype [RCV002385955]|not provided [RCV000835460]|not specified [RCV001700237] Chr11:116830819 [GRCh38]
Chr11:116701535 [GRCh37]
Chr11:11q23.3		 benign
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000040.3(APOC3):c.12G>A (p.Arg4=) single nucleotide variant Cardiovascular phenotype [RCV003301913] Chr11:116830594 [GRCh38]
Chr11:116701310 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.77C>T (p.Ala26Val) single nucleotide variant Cardiovascular phenotype [RCV003301915] Chr11:116830794 [GRCh38]
Chr11:116701510 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000040.3(APOC3):c.-13-83C>T single nucleotide variant not provided [RCV001574911] Chr11:116830487 [GRCh38]
Chr11:116701203 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000040.3(APOC3):c.-13-82C>T single nucleotide variant not provided [RCV001576130] Chr11:116830488 [GRCh38]
Chr11:116701204 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000040.3(APOC3):c.*149T>A single nucleotide variant not provided [RCV001554988] Chr11:116833033 [GRCh38]
Chr11:116703749 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.-13-133T>G single nucleotide variant not provided [RCV001698786] Chr11:116830437 [GRCh38]
Chr11:116701153 [GRCh37]
Chr11:11q23.3		 benign
NM_000040.3(APOC3):c.179+276_179+285dup duplication not provided [RCV001556881] Chr11:116831166..116831167 [GRCh38]
Chr11:116701882..116701883 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.161A>G (p.Gln54Arg) single nucleotide variant Apolipoprotein c-III deficiency [RCV002468525] Chr11:116830878 [GRCh38]
Chr11:116701594 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.-13-70G>A single nucleotide variant not provided [RCV001609392] Chr11:116830500 [GRCh38]
Chr11:116701216 [GRCh37]
Chr11:11q23.3		 benign
NM_000040.3(APOC3):c.179+238T>C single nucleotide variant not provided [RCV001636001] Chr11:116831134 [GRCh38]
Chr11:116701850 [GRCh37]
Chr11:11q23.3		 benign
NM_000040.3(APOC3):c.148G>A (p.Val50Met) single nucleotide variant Apolipoprotein c-III deficiency [RCV002468442] Chr11:116830865 [GRCh38]
Chr11:116701581 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.-13-164C>G single nucleotide variant not provided [RCV001655049] Chr11:116830406 [GRCh38]
Chr11:116701122 [GRCh37]
Chr11:11q23.3		 benign
NM_000040.3(APOC3):c.*71G>T single nucleotide variant not provided [RCV001613480]|not specified [RCV001796608] Chr11:116832955 [GRCh38]
Chr11:116703671 [GRCh37]
Chr11:11q23.3		 benign
NM_000040.3(APOC3):c.-13-62C>T single nucleotide variant not provided [RCV001711055] Chr11:116830508 [GRCh38]
Chr11:116701224 [GRCh37]
Chr11:11q23.3		 benign
NM_000040.3(APOC3):c.180-16C>T single nucleotide variant not provided [RCV001587216]|not specified [RCV001194235] Chr11:116832748 [GRCh38]
Chr11:116703464 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000040.3(APOC3):c.179+62T>A single nucleotide variant not provided [RCV001541727] Chr11:116830958 [GRCh38]
Chr11:116701674 [GRCh37]
Chr11:11q23.3		 benign
NM_000040.3(APOC3):c.180-82G>A single nucleotide variant not provided [RCV001669134] Chr11:116832682 [GRCh38]
Chr11:116703398 [GRCh37]
Chr11:11q23.3		 benign
NM_000040.3(APOC3):c.179+221G>A single nucleotide variant not provided [RCV001708722] Chr11:116831117 [GRCh38]
Chr11:116701833 [GRCh37]
Chr11:11q23.3		 benign
NM_000040.3(APOC3):c.179+57G>A single nucleotide variant not provided [RCV001648408] Chr11:116830953 [GRCh38]
Chr11:116701669 [GRCh37]
Chr11:11q23.3		 benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NM_000040.3(APOC3):c.126C>T (p.Thr42=) single nucleotide variant Cardiovascular phenotype [RCV002375311]|not specified [RCV001251268] Chr11:116830843 [GRCh38]
Chr11:116701559 [GRCh37]
Chr11:11q23.3		 benign|likely benign
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_000040.3(APOC3):c.*40G>C single nucleotide variant Myocardial infarction, susceptibility to [RCV002259396]|not provided [RCV001655198]|not specified [RCV001796654] Chr11:116832924 [GRCh38]
Chr11:116703640 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_000040.3(APOC3):c.99G>A (p.Gln33=) single nucleotide variant APOC3-related condition [RCV003941127]|Cardiovascular phenotype [RCV002386559]|not provided [RCV002544232]|not specified [RCV001779552] Chr11:116830816 [GRCh38]
Chr11:116701532 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000040.3(APOC3):c.193G>A (p.Asp65Asn) single nucleotide variant not provided [RCV001970954] Chr11:116832777 [GRCh38]
Chr11:116703493 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NM_000040.3(APOC3):c.85C>T (p.Leu29Phe) single nucleotide variant not provided [RCV001902711] Chr11:116830802 [GRCh38]
Chr11:116701518 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NC_000011.9:g.(?_116660844)_(117870356_?)del deletion Nephronophthisis 15 [RCV003119459]|not provided [RCV003109683] Chr11:116660844..117870356 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance|no classifications from unflagged records
NM_000040.3(APOC3):c.55+63A>G single nucleotide variant not provided [RCV002286094] Chr11:116830700 [GRCh38]
Chr11:116701416 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_000040.3(APOC3):c.282T>C (p.Thr94=) single nucleotide variant Cardiovascular phenotype [RCV002435114]|not provided [RCV003546850] Chr11:116832866 [GRCh38]
Chr11:116703582 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.66G>A (p.Glu22=) single nucleotide variant Cardiovascular phenotype [RCV002367141] Chr11:116830783 [GRCh38]
Chr11:116701499 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.118A>G (p.Thr40Ala) single nucleotide variant Cardiovascular phenotype [RCV002351343] Chr11:116830835 [GRCh38]
Chr11:116701551 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.288C>A (p.Ala96=) single nucleotide variant Cardiovascular phenotype [RCV002437890] Chr11:116832872 [GRCh38]
Chr11:116703588 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.70G>A (p.Glu24Lys) single nucleotide variant Cardiovascular phenotype [RCV002367356] Chr11:116830787 [GRCh38]
Chr11:116701503 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:116660464-116711974)x1 copy number loss not provided [RCV002472758] Chr11:116660464..116711974 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.(?_116800700)_(116841000_?)del deletion Apolipoprotein A-I deficiency [RCV000019512] Chr11:116800700..116841000 [GRCh38]
Chr11:11q23.3		 pathogenic
NM_000040.3(APOC3):c.192C>T (p.Thr64=) single nucleotide variant Cardiovascular phenotype [RCV002410872] Chr11:116832776 [GRCh38]
Chr11:116703492 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.40C>T (p.Leu14Phe) single nucleotide variant Cardiovascular phenotype [RCV002323323]|not provided [RCV003698912] Chr11:116830622 [GRCh38]
Chr11:116701338 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.172C>A (p.Gln58Lys) single nucleotide variant Cardiovascular phenotype [RCV002407404] Chr11:116830889 [GRCh38]
Chr11:116701605 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.90_95dup (p.Phe31_Met32insIlePhe) duplication Cardiovascular phenotype [RCV002376355] Chr11:116830806..116830807 [GRCh38]
Chr11:116701522..116701523 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.69C>T (p.Ala23=) single nucleotide variant Cardiovascular phenotype [RCV002364746]|not provided [RCV003560980] Chr11:116830786 [GRCh38]
Chr11:116701502 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000040.3(APOC3):c.271G>A (p.Val91Ile) single nucleotide variant not specified [RCV002302457] Chr11:116832855 [GRCh38]
Chr11:116703571 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.39G>A (p.Ala13=) single nucleotide variant Cardiovascular phenotype [RCV002357797] Chr11:116830621 [GRCh38]
Chr11:116701337 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.240G>A (p.Lys80=) single nucleotide variant Cardiovascular phenotype [RCV002450321] Chr11:116832824 [GRCh38]
Chr11:116703540 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.48C>T (p.Ala16=) single nucleotide variant Cardiovascular phenotype [RCV002340620]|not provided [RCV003096516] Chr11:116830630 [GRCh38]
Chr11:116701346 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.171G>C (p.Gln57His) single nucleotide variant Cardiovascular phenotype [RCV002399045] Chr11:116830888 [GRCh38]
Chr11:116701604 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.115G>A (p.Ala39Thr) single nucleotide variant not provided [RCV002775717] Chr11:116830832 [GRCh38]
Chr11:116701548 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.56-15C>A single nucleotide variant not provided [RCV002642475]|not specified [RCV003111586] Chr11:116830758 [GRCh38]
Chr11:116701474 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000040.3(APOC3):c.10C>T (p.Arg4Trp) single nucleotide variant Inborn genetic diseases [RCV002678776] Chr11:116830592 [GRCh38]
Chr11:116701308 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.114C>T (p.His38=) single nucleotide variant Cardiovascular phenotype [RCV003214123]|not provided [RCV003575057] Chr11:116830831 [GRCh38]
Chr11:116701547 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.95T>A (p.Met32Lys) single nucleotide variant Inborn genetic diseases [RCV003258477] Chr11:116830812 [GRCh38]
Chr11:116701528 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.175G>T (p.Ala59Ser) single nucleotide variant Cardiovascular phenotype [RCV003177262] Chr11:116830892 [GRCh38]
Chr11:116701608 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.13G>A (p.Val5Ile) single nucleotide variant Cardiovascular phenotype [RCV003177263] Chr11:116830595 [GRCh38]
Chr11:116701311 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.116C>A (p.Ala39Asp) single nucleotide variant Cardiovascular phenotype [RCV003310166] Chr11:116830833 [GRCh38]
Chr11:116701549 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:115182164-116759502)x3 copy number gain not provided [RCV003484852] Chr11:115182164..116759502 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:116681008-116826215)x1 copy number loss not provided [RCV003483142] Chr11:116681008..116826215 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_000040.3(APOC3):c.-14+307_0inv inversion Apolipoproteins a-i and c-iii, combined deficiency of [RCV000019509]|High density lipoprotein deficiency, Detroit type [RCV000019510] Chr11:116830247..116836307 [GRCh38]
Chr11:116700963..116707023 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000040.3(APOC3):c.253T>C (p.Trp85Arg) single nucleotide variant not provided [RCV003691594] Chr11:116832837 [GRCh38]
Chr11:116703553 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000040.3(APOC3):c.179+13G>T single nucleotide variant not provided [RCV003847342] Chr11:116830909 [GRCh38]
Chr11:116701625 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.180-16C>G single nucleotide variant not provided [RCV003863494] Chr11:116832748 [GRCh38]
Chr11:116703464 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000040.3(APOC3):c.91T>G (p.Phe31Val) single nucleotide variant Apolipoprotein c-III deficiency [RCV003333843] Chr11:116830808 [GRCh38]
Chr11:116701524 [GRCh37]
Chr11:11q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1222
Count of miRNA genes:556
Interacting mature miRNAs:601
Transcripts:ENST00000227667, ENST00000375345, ENST00000433777, ENST00000470144
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH66448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,501 - 116,703,608UniSTSGRCh37
Build 3611116,208,711 - 116,208,818RGDNCBI36
Celera11113,861,303 - 113,861,410RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,759 - 112,635,866UniSTS
GeneMap99-GB4 RH Map11373.28UniSTS
NCBI RH Map111009.2UniSTS
D11S4370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,504 - 116,703,608UniSTSGRCh37
Build 3611116,208,714 - 116,208,818RGDNCBI36
Celera11113,861,306 - 113,861,410RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,762 - 112,635,866UniSTS
GeneMap99-GB4 RH Map11373.7UniSTS
Whitehead-YAC Contig Map11 UniSTS
G44717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,594 - 116,703,774UniSTSGRCh37
Build 3611116,208,804 - 116,208,984RGDNCBI36
Celera11113,861,396 - 113,861,576RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,852 - 112,636,032UniSTS
GDB:176981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,701,587 - 116,702,459UniSTSGRCh37
Build 3611116,206,797 - 116,207,669RGDNCBI36
Celera11113,859,402 - 113,860,261RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,633,860 - 112,634,717UniSTS
GDB:178433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,487 - 116,703,719UniSTSGRCh37
Build 3611116,208,697 - 116,208,929RGDNCBI36
Celera11113,861,289 - 113,861,521RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,745 - 112,635,977UniSTS
GDB:180740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,701,803 - 116,702,153UniSTSGRCh37
Build 3611116,207,013 - 116,207,363RGDNCBI36
Celera11113,859,618 - 113,859,955RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,634,076 - 112,634,411UniSTS
GDB:636456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,455 - 116,703,760UniSTSGRCh37
Build 3611116,208,665 - 116,208,970RGDNCBI36
Celera11113,861,257 - 113,861,562RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,713 - 112,636,018UniSTS
ECD04073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,100 - 116,703,875UniSTSGRCh37
Build 3611116,208,310 - 116,209,085RGDNCBI36
Celera11113,860,902 - 113,861,677RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,358 - 112,636,133UniSTS
ECD05062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,701,126 - 116,701,872UniSTSGRCh37
Build 3611116,206,336 - 116,207,082RGDNCBI36
Celera11113,858,941 - 113,859,687RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,633,399 - 112,634,145UniSTS
ECD13373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,700,131 - 116,700,650UniSTSGRCh37
Build 3611116,205,341 - 116,205,860RGDNCBI36
Celera11113,857,946 - 113,858,465RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,632,404 - 112,632,923UniSTS
ECD13693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,699,569 - 116,700,080UniSTSGRCh37
Build 3611116,204,779 - 116,205,290RGDNCBI36
Celera11113,857,384 - 113,857,895RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,631,841 - 112,632,353UniSTS
ECD21211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,993 - 116,704,250UniSTSGRCh37
Build 3611116,209,203 - 116,209,460RGDNCBI36
Celera11113,861,795 - 113,862,052RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,636,251 - 112,636,508UniSTS
ECD22293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,699,155 - 116,699,378UniSTSGRCh37
Build 3611116,204,365 - 116,204,588RGDNCBI36
Celera11113,856,970 - 113,857,193RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,631,427 - 112,631,650UniSTS
ECD23843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,702,769 - 116,702,942UniSTSGRCh37
Build 3611116,207,979 - 116,208,152RGDNCBI36
Celera11113,860,571 - 113,860,744RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,027 - 112,635,200UniSTS
D11S4435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,608 - 116,703,787UniSTSGRCh37
Build 3611116,208,818 - 116,208,997RGDNCBI36
Celera11113,861,410 - 113,861,589RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,866 - 112,636,045UniSTS
GeneMap99-GB4 RH Map11373.28UniSTS
Whitehead-RH Map11513.8UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map111009.2UniSTS
REN72957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,704,051 - 116,704,275UniSTSGRCh37
Build 3611116,209,261 - 116,209,485RGDNCBI36
Celera11113,861,853 - 113,862,077RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,636,309 - 112,636,533UniSTS
REN72958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,801 - 116,704,028UniSTSGRCh37
Build 3611116,209,011 - 116,209,238RGDNCBI36
Celera11113,861,603 - 113,861,830RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,636,059 - 112,636,286UniSTS
REN72959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,539 - 116,703,791UniSTSGRCh37
Build 3611116,208,749 - 116,209,001RGDNCBI36
Celera11113,861,341 - 113,861,593RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,797 - 112,636,049UniSTS
REN72960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,321 - 116,703,545UniSTSGRCh37
Build 3611116,208,531 - 116,208,755RGDNCBI36
Celera11113,861,123 - 113,861,347RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,579 - 112,635,803UniSTS
REN72961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,068 - 116,703,305UniSTSGRCh37
Build 3611116,208,278 - 116,208,515RGDNCBI36
Celera11113,860,870 - 113,861,107RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,326 - 112,635,563UniSTS
REN72962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,702,831 - 116,703,086UniSTSGRCh37
Build 3611116,208,041 - 116,208,296RGDNCBI36
Celera11113,860,633 - 113,860,888RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,635,089 - 112,635,344UniSTS
REN72963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,702,603 - 116,702,850UniSTSGRCh37
Build 3611116,207,813 - 116,208,060RGDNCBI36
Celera11113,860,405 - 113,860,652RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,634,861 - 112,635,108UniSTS
REN72964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,702,381 - 116,702,620UniSTSGRCh37
Build 3611116,207,591 - 116,207,830RGDNCBI36
Celera11113,860,183 - 113,860,422RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,634,639 - 112,634,878UniSTS
REN72965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,701,539 - 116,701,765UniSTSGRCh37
Build 3611116,206,749 - 116,206,975RGDNCBI36
Celera11113,859,354 - 113,859,580RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,633,812 - 112,634,038UniSTS
REN72966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,701,275 - 116,701,538UniSTSGRCh37
Build 3611116,206,485 - 116,206,748RGDNCBI36
Celera11113,859,090 - 113,859,353RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,633,548 - 112,633,811UniSTS
REN72967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,701,062 - 116,701,293UniSTSGRCh37
Build 3611116,206,272 - 116,206,503RGDNCBI36
Celera11113,858,877 - 113,859,108RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,633,335 - 112,633,566UniSTS
REN72968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,700,839 - 116,701,079UniSTSGRCh37
Build 3611116,206,049 - 116,206,289RGDNCBI36
Celera11113,858,654 - 113,858,894RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,633,112 - 112,633,352UniSTS
REN72969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,700,577 - 116,700,825UniSTSGRCh37
Build 3611116,205,787 - 116,206,035RGDNCBI36
Celera11113,858,392 - 113,858,640RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,632,850 - 112,633,098UniSTS
REN72970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,700,313 - 116,700,540UniSTSGRCh37
Build 3611116,205,523 - 116,205,750RGDNCBI36
Celera11113,858,128 - 113,858,355RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,632,586 - 112,632,813UniSTS
REN72971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,700,046 - 116,700,298UniSTSGRCh37
Build 3611116,205,256 - 116,205,508RGDNCBI36
Celera11113,857,861 - 113,858,113RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,632,319 - 112,632,571UniSTS
REN72972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,699,804 - 116,700,062UniSTSGRCh37
Build 3611116,205,014 - 116,205,272RGDNCBI36
Celera11113,857,619 - 113,857,877RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,632,076 - 112,632,335UniSTS
REN72973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,699,581 - 116,699,821UniSTSGRCh37
Build 3611116,204,791 - 116,205,031RGDNCBI36
Celera11113,857,396 - 113,857,636RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,631,853 - 112,632,093UniSTS
REN72974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,699,359 - 116,699,588UniSTSGRCh37
Build 3611116,204,569 - 116,204,798RGDNCBI36
Celera11113,857,174 - 113,857,403RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,631,631 - 112,631,860UniSTS
REN72975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,699,153 - 116,699,378UniSTSGRCh37
Build 3611116,204,363 - 116,204,588RGDNCBI36
Celera11113,856,968 - 113,857,193RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,631,425 - 112,631,650UniSTS
REN72976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,698,880 - 116,699,105UniSTSGRCh37
Build 3611116,204,090 - 116,204,315RGDNCBI36
Celera11113,856,695 - 113,856,920RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,631,152 - 112,631,377UniSTS
stSG601810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,700,520 - 116,701,755UniSTSGRCh37
Build 3611116,205,730 - 116,206,965RGDNCBI36
Celera11113,858,335 - 113,859,570RGD
HuRef11112,632,793 - 112,634,028UniSTS
stSG601811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,701,736 - 116,703,197UniSTSGRCh37
Build 3611116,206,946 - 116,208,407RGDNCBI36
Celera11113,859,551 - 113,860,999RGD
HuRef11112,634,009 - 112,635,455UniSTS
stSG601812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,253 - 116,704,264UniSTSGRCh37
Build 3611116,208,463 - 116,209,474RGDNCBI36
Celera11113,861,055 - 113,862,066RGD
HuRef11112,635,511 - 112,636,522UniSTS
APOC3_7748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,703,530 - 116,703,966UniSTSGRCh37
Build 3611116,208,740 - 116,209,176RGDNCBI36
Celera11113,861,332 - 113,861,768RGD
HuRef11112,635,788 - 112,636,224UniSTS
APOC3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,701,587 - 116,702,158UniSTSGRCh37
Build 3611116,206,797 - 116,207,368RGDNCBI36
Celera11113,859,402 - 113,859,960RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,633,860 - 112,634,416UniSTS
GeneMap99-GB4 RH Map11373.28UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 50 6 409 409 51 409
Medium 119 172 40 32 243 32 25 10 7 34 16 19 20 13 1
Low 727 784 452 45 413 7 810 441 635 121 625 510 38 349 521
Below cutoff 882 1104 457 78 342 6 1564 866 1477 94 405 457 75 479 1005 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH005271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV657170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY422951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY555191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC134419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ924609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF444950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H74029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC185289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ437193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR575746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR575747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V01513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000227667   ⟹   ENSP00000227667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,829,907 - 116,833,072 (+)Ensembl
RefSeq Acc Id: ENST00000375345   ⟹   ENSP00000364494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,829,915 - 116,833,072 (+)Ensembl
RefSeq Acc Id: ENST00000433777   ⟹   ENSP00000410614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,829,706 - 116,830,882 (+)Ensembl
RefSeq Acc Id: ENST00000470144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,829,922 - 116,831,100 (+)Ensembl
RefSeq Acc Id: ENST00000630701   ⟹   ENSP00000486182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,830,529 - 116,833,071 (+)Ensembl
RefSeq Acc Id: NM_000040   ⟹   NP_000031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,829,907 - 116,833,072 (+)NCBI
GRCh3711116,700,624 - 116,703,787 (+)ENTREZGENE
Build 3611116,205,834 - 116,208,997 (+)NCBI Archive
HuRef11112,632,897 - 112,636,045 (+)ENTREZGENE
CHM1_111116,585,371 - 116,588,539 (+)NCBI
T2T-CHM13v2.011116,845,008 - 116,848,178 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000031   ⟸   NM_000040
- Peptide Label: precursor
- UniProtKB: Q08E83 (UniProtKB/Swiss-Prot),   Q6Q786 (UniProtKB/Swiss-Prot),   P02656 (UniProtKB/Swiss-Prot),   A3KPE2 (UniProtKB/TrEMBL),   B0YIW2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000227667   ⟸   ENST00000227667
RefSeq Acc Id: ENSP00000364494   ⟸   ENST00000375345
RefSeq Acc Id: ENSP00000410614   ⟸   ENST00000433777
RefSeq Acc Id: ENSP00000486182   ⟸   ENST00000630701

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02656-F1-model_v2 AlphaFold P02656 1-99 view protein structure

Promoters
RGD ID:7222219
Promoter ID:EPDNEW_H16854
Type:initiation region
Name:APOC3_2
Description:apolipoprotein C3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16855  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,829,701 - 116,829,761EPDNEW
RGD ID:7222217
Promoter ID:EPDNEW_H16855
Type:multiple initiation site
Name:APOC3_1
Description:apolipoprotein C3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16854  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,829,907 - 116,829,967EPDNEW
RGD ID:6849580
Promoter ID:EP30022
Type:single initiation site
Name:HS_APOC3
Description:Apolipoprotein CIII.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 168; Mammalian apolipoprotein CIII.
Tissues & Cell Lines:liver, intestine
Experiment Methods:Sequencing of a full-length cDNA; Primer extension; experiments performed with closely related; gene
Position:No map positions available.

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:610 AgrOrtholog
COSMIC APOC3 COSMIC
Ensembl Genes ENSG00000110245 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000227667 ENTREZGENE
  ENST00000227667.8 UniProtKB/Swiss-Prot
  ENST00000375345.3 UniProtKB/TrEMBL
  ENST00000433777.5 UniProtKB/TrEMBL
  ENST00000630701.1 UniProtKB/TrEMBL
Gene3D-CATH 6.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110245 GTEx
HGNC ID HGNC:610 ENTREZGENE
Human Proteome Map APOC3 Human Proteome Map
InterPro Apo-CIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Apo_CIII_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:345 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 345 ENTREZGENE
OMIM 107720 OMIM
PANTHER APOLIPOPROTEIN C-III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14225 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Apo-CIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB APOC3 RGD, PharmGKB
UniProt A3KPE2 ENTREZGENE, UniProtKB/TrEMBL
  APOC3_HUMAN UniProtKB/Swiss-Prot
  B0YIW2 ENTREZGENE, UniProtKB/TrEMBL
  C9J2Q0_HUMAN UniProtKB/TrEMBL
  P02656 ENTREZGENE
  Q08E83 ENTREZGENE
  Q6Q786 ENTREZGENE
UniProt Secondary Q08E83 UniProtKB/Swiss-Prot
  Q6Q786 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 APOC3  apolipoprotein C3    apolipoprotein C-III  Symbol and/or name change 5135510 APPROVED