APOA4 (apolipoprotein A4) - Rat Genome Database

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Gene: APOA4 (apolipoprotein A4) Homo sapiens
Analyze
Symbol: APOA4
Name: apolipoprotein A4
RGD ID: 737553
HGNC Page HGNC:602
Description: Enables several functions, including cation binding activity; cholesterol transfer activity; and phosphatidylcholine-sterol O-acyltransferase activator activity. Involved in several processes, including cholesterol transport; positive regulation of lipid metabolic process; and protein-lipid complex organization. Located in cell surface and extracellular space. Part of chylomicron; high-density lipoprotein particle; and very-low-density lipoprotein particle. Implicated in Alzheimer's disease; colitis; myocardial infarction; and ulcerative colitis. Biomarker of several diseases, including Huntington's disease; Leber hereditary optic neuropathy; autoimmune disease (multiple); eye disease (multiple); and graft-versus-host disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADTKD6; apo-AIV; apoA-IV; apolipoprotein A-IV; MGC142154; MGC142156
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW298_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811116,820,700 - 116,823,304 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11116,820,700 - 116,823,304 (-)EnsemblGRCh38hg38GRCh38
GRCh3711116,691,416 - 116,694,020 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,196,628 - 116,199,221 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411116,196,628 - 116,199,162NCBI
Celera11113,849,234 - 113,851,827 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,623,690 - 112,626,283 (-)NCBIHuRef
CHM1_111116,576,178 - 116,578,767 (-)NCBICHM1_1
T2T-CHM13v2.011116,835,812 - 116,838,412 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Alzheimer's disease  (IAGP,ISO)
anemia  (ISO)
atherosclerosis  (EXP)
Autosomal Dominant Tubulointerstitial Kidney Disease 6  (IAGP)
cardiovascular system disease  (IEA,IEP)
CD3epsilon deficiency  (IAGP)
Chemically-Induced Disorders  (EXP)
chromosome 11 partial duplication syndrome  (IAGP)
chronic kidney disease  (IEP)
Chronic Pancreatitis  (IEP)
colitis  (IDA)
Coronary Disease  (IAGP)
Crohn's disease  (IEP)
diabetic retinopathy  (IEP)
Dwarfism  (IAGP)
Experimental Arthritis  (ISO)
Experimental Liver Cirrhosis  (EXP)
Experimental Liver Neoplasms  (EXP)
Familial Pancreatic Carcinoma  (IEP)
glaucoma  (IEP)
graft-versus-host disease  (IEP)
Guillain-Barre syndrome  (IEP)
hepatocellular carcinoma  (IEP)
Huntington's disease  (IEP)
Hyperlipoproteinemia Type II  (EXP)
Hyperlipoproteinemias  (IEP)
Hypertriglyceridemia  (IMP)
immunodeficiency 17  (IAGP)
immunodeficiency 18  (IAGP)
immunodeficiency 19  (IAGP)
Inflammation  (ISO)
inflammatory bowel disease 28  (IAGP)
intellectual disability  (IAGP)
intermediate coronary syndrome  (IEP)
Intervertebral Disc Displacement  (IEP)
isolated microphthalmia 5  (IAGP)
Leber hereditary optic neuropathy  (IEP)
major depressive disorder  (ISO)
myocardial infarction  (IAGP,IEA)
neovascular inflammatory vitreoretinopathy  (IEP)
nephronophthisis 15  (IAGP)
obesity  (IEA)
Peripheral Nerve Injuries  (ISO)
peripheral nervous system disease  (ISO)
polyneuropathy  (IEP)
primary hypoalphalipoproteinemia 2  (IAGP)
RASopathy  (IAGP)
relapsing-remitting multiple sclerosis  (IEP)
retinal detachment  (IEP)
rheumatoid arthritis  (IEP)
schizophrenia  (EXP,IEP)
Seasonal Allergic Rhinitis  (IEP)
ulcerative colitis  (EXP,IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-nitropropane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-diaminotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-nitro-p-phenylenediamine  (ISO)
2-nitropropane  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-acetylaminofluorene  (ISO)
4-nitro-1,2-phenylenediamine  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
carbon nanotube  (ISO)
carnosic acid  (ISO)
cefaloridine  (ISO)
cerium trichloride  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
clofibrate  (ISO)
clomipramine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
diquat  (ISO)
doramapimod  (ISO)
fenofibrate  (ISO)
flavonoids  (ISO)
fluconazole  (ISO)
folic acid  (ISO)
fructose  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
graphite  (ISO)
high-density lipoprotein cholesterol  (EXP)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
imipramine  (ISO)
inulin  (ISO)
isoniazide  (ISO)
ketoconazole  (ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
metacetamol  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nickel atom  (EXP,ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
octadecanoic acid  (EXP)
olanzapine  (EXP)
oleic acid  (EXP)
omeprazole  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorobutyric acid  (ISO)
perfluorododecanoic acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorohexanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
perfluoroundecanoic acid  (ISO)
permethrin  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenytoin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
propiconazole  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
rifaximin  (EXP)
rotenone  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulfasalazine  (ISO)
tamoxifen  (ISO)
taurocholic acid  (ISO)
tebuconazole  (EXP)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
triolein  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

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. Polymorphism of the apolipoprotein A-IV gene and its significance in lipid metabolism and coronary heart disease in a Japanese population. Bai H, etal., Eur J Clin Invest. 1996 Dec;26(12):1115-24.
2. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
3. Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma. Bouhenni RA, etal., Exp Eye Res. 2011 Jan;92(1):67-75. Epub 2010 Nov 13.
4. Accumulation of apolipoproteins in the regenerating and remyelinating mammalian peripheral nerve. Identification of apolipoprotein D, apolipoprotein A-IV, apolipoprotein E, and apolipoprotein A-I. Boyles JK, etal., J Biol Chem. 1990 Oct 15;265(29):17805-15.
5. Apolipoprotein A-IV is an independent predictor of disease activity in patients with inflammatory bowel disease. Broedl UC, etal., Inflamm Bowel Dis. 2007 Apr;13(4):391-7.
6. Early-life stress and antidepressants modulate peripheral biomarkers in a gene-environment rat model of depression. Carboni L, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2010 Aug 16;34(6):1037-48. Epub 2010 May 23.
7. SINGLE NUCLEOTIDE POLYMORPHISMS THAT INFLUENCE LIPID METABOLISM: Interaction with Dietary Factors. Corella D and Ordovas JM, Annu Rev Nutr. 2005;25:341-90.
8. Association of the apolipoprotein A-IV codon 360 mutation in patients with Alzheimer's disease. Csaszar A, etal., Neurosci Lett. 1997 Jul 25;230(3):151-4.
9. Genetic ablation of apolipoprotein A-IV accelerates Alzheimer's disease pathogenesis in a mouse model. Cui Y, etal., Am J Pathol. 2011 Mar;178(3):1298-308.
10. Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis. D'Aguanno S, etal., J Neuroimmunol. 2008 Jan;193(1-2):156-60. Epub 2007 Dec 3.
11. The use of multiplexed MRM for the discovery of biomarkers to differentiate iron-deficiency anemia from anemia of inflammation. Domanski D, etal., J Proteomics. 2011 Nov 26.
12. Proteins of rat serum V: adjuvant arthritis and its modulation by nonsteroidal anti-inflammatory drugs. Ebrini I, etal., Electrophoresis. 2000 Jun;21(11):2170-9.
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Increased prothrombin, apolipoprotein A-IV, and haptoglobin in the cerebrospinal fluid of patients with Huntington's disease. Huang YC, etal., PLoS One. 2011 Jan 31;6(1):e15809.
15. Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice. Ito Y, etal., Science. 1990 Aug 17;249(4970):790-3.
16. No association between apolipoprotein A-IV codon 360 mutation and late-onset Alzheimer's disease in the Japanese population. Ji Y, etal., Dement Geriatr Cogn Disord. 1999 Nov-Dec;10(6):473-5.
17. Proteomic analysis of the cerebrospinal fluid of patients with schizophrenia. Jiang L, etal., Amino Acids. 2003 Jul;25(1):49-57.
18. 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.
19. Characterization of the peripheral neuropathy in neonatal and adult mice that are homozygous for the fatty liver dystrophy (fld) mutation. Langner CA, etal., J Biol Chem. 1991 Jun 25;266(18):11955-64.
20. Screening disease-associated proteins from sera of patients with rheumatoid arthritis: a comparative proteomic study. Li TW, etal., Chin Med J (Engl). 2010 Mar 5;123(5):537-43.
21. Proteomic analysis of the cerebrospinal fluid of patients with lumbar disk herniation. Liu XD, etal., Proteomics. 2006 Feb;6(3):1019-28.
22. Chronic kidney disease-related atherosclerosis - proteomic studies of blood plasma. Luczak M, etal., Proteome Sci. 2011 May 13;9:25.
23. Apolipoprotein A-IV is a candidate target molecule for the treatment of seasonal allergic rhinitis. Makino Y, etal., J Allergy Clin Immunol. 2010 Dec;126(6):1163-9.e5.
24. Serum proteomic profiling and haptoglobin polymorphisms in patients with GVHD after allogeneic hematopoietic cell transplantation. McGuirk J, etal., J Hematol Oncol. 2009 Apr 20;2:17.
25. A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease. Papassotiropoulos A, etal., J Clin Psychiatry. 2005 Jul;66(7):940-7.
26. Effect of the inflammation, chronic hyperglycemia, or malabsorption on the apolipoprotein A-IV concentration in type 1 diabetes mellitus and in diabetes secondary to chronic pancreatitis. Quilliot D, etal., Metabolism. 2001 Sep;50(9):1019-24.
27. ApoA-IV polymorphism associated with myocardial infarction in obese NIDDM patients. The San Luis Valley Diabetes Study. Rewers M, etal., Diabetes. 1994 Dec;43(12):1485-9.
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Apolipoprotein C-II and C-III levels in hyperlipoproteinemia. Schonfeld G, etal., Metabolism. 1979 Oct;28(10):1001-10.
31. Proteome Profiling of Vitreoretinal Diseases by Cluster Analysis. Shitama T, etal., Proteomics Clin Appl. 2008 Sep;2(9):1265-1280.
32. Candidate biomarkers of chronic inflammatory demyelinating polyneuropathy (CIDP): proteome analysis of cerebrospinal fluid. Tumani H, etal., J Neuroimmunol. 2009 Sep 29;214(1-2):109-12. Epub 2009 Jul 9.
33. CSF proteome analysis in clinically isolated syndrome (CIS): candidate markers for conversion to definite multiple sclerosis. Tumani H, etal., Neurosci Lett. 2009 Mar 13;452(2):214-7. Epub 2009 Jan 29.
34. Apolipoprotein A-IV inhibits experimental colitis. Vowinkel T, etal., J Clin Invest. 2004 Jul;114(2):260-9.
35. 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.
36. Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels. Wong WM, etal., Circ Res. 2003 May 16;92(9):969-75. Epub 2003 Apr 3.
37. Comparative proteomics analysis of cerebrospinal fluid of patients with Guillain-Barre syndrome. Yang YR, etal., Cell Mol Neurobiol. 2008 Aug;28(5):737-44. Epub 2008 Mar 15.
38. Differential gene expression in patients genetically predisposed to pancreatic cancer. Zervos EE, etal., J Surg Res. 2006 Oct;135(2):317-22. Epub 2006 Jun 30.
Additional References at PubMed
PMID:1349197   PMID:1487136   PMID:1677358   PMID:1737067   PMID:1935934   PMID:1973689   PMID:2065039   PMID:2216752   PMID:2307668   PMID:2331673   PMID:2351649   PMID:2930771  
PMID:3036793   PMID:3080432   PMID:3095477   PMID:3095836   PMID:3611972   PMID:3755616   PMID:3931073   PMID:4345202   PMID:6706947   PMID:7728150   PMID:8688083   PMID:8956036  
PMID:9988739   PMID:10069372   PMID:10391210   PMID:11108737   PMID:11162594   PMID:11181750   PMID:11254757   PMID:11472750   PMID:11583715   PMID:11592042   PMID:11841825   PMID:11940599  
PMID:11941585   PMID:11952809   PMID:12082592   PMID:12116231   PMID:12121350   PMID:12220435   PMID:12417525   PMID:12477932   PMID:12495081   PMID:12556235   PMID:12664082   PMID:12691171  
PMID:12692552   PMID:12697303   PMID:12777472   PMID:12860258   PMID:12962772   PMID:14718574   PMID:14751811   PMID:15108119   PMID:15174051   PMID:15175360   PMID:15252864   PMID:15258202  
PMID:15304365   PMID:15311933   PMID:15359534   PMID:15488874   PMID:15489334   PMID:15559160   PMID:15649902   PMID:15721024   PMID:15764642   PMID:15806598   PMID:15823278   PMID:15864114  
PMID:15868628   PMID:15910632   PMID:15928313   PMID:15962178   PMID:16030523   PMID:16105043   PMID:16120654   PMID:16159879   PMID:16321685   PMID:16326171   PMID:16338932   PMID:16602826  
PMID:16651467   PMID:16710093   PMID:16763159   PMID:16770585   PMID:16781717   PMID:16788210   PMID:16929032   PMID:16945374   PMID:17130180   PMID:17154273   PMID:17261136   PMID:17378725  
PMID:17457002   PMID:17654446   PMID:17712726   PMID:17825930   PMID:17855807   PMID:17964293   PMID:18029348   PMID:18193043   PMID:18193044   PMID:18430727   PMID:18513389   PMID:18636124  
PMID:18660489   PMID:18664021   PMID:18676680   PMID:18678879   PMID:18789138   PMID:18948973   PMID:18996102   PMID:19057464   PMID:19060906   PMID:19060911   PMID:19074352   PMID:19131662  
PMID:19166692   PMID:19170196   PMID:19263529   PMID:19336370   PMID:19336475   PMID:19336561   PMID:19403283   PMID:19433068   PMID:19592705   PMID:19625176   PMID:19689828   PMID:19692168  
PMID:19701693   PMID:19732897   PMID:19878569   PMID:19913121   PMID:19948975   PMID:20031551   PMID:20117098   PMID:20139978   PMID:20164363   PMID:20430392   PMID:20551380   PMID:20554794  
PMID:20602615   PMID:20609189   PMID:20628086   PMID:20674306   PMID:20686565   PMID:20714348   PMID:20864672   PMID:21127258   PMID:21324458   PMID:21378990   PMID:21407247   PMID:21712729  
PMID:21767760   PMID:21873635   PMID:21909109   PMID:22286219   PMID:22516433   PMID:22528093   PMID:22579246   PMID:22916037   PMID:23096082   PMID:23132909   PMID:23288849   PMID:23338533  
PMID:23376485   PMID:23505323   PMID:23533145   PMID:24211975   PMID:24311788   PMID:24386095   PMID:24425874   PMID:24598141   PMID:24606699   PMID:25463085   PMID:25733664   PMID:26186194  
PMID:26397108   PMID:26485402   PMID:26491253   PMID:26556724   PMID:27068509   PMID:27262366   PMID:27344311   PMID:27412012   PMID:27559042   PMID:27622441   PMID:27870653   PMID:28246167  
PMID:28514442   PMID:29025558   PMID:29317355   PMID:30097533   PMID:30190457   PMID:31273033   PMID:31408538   PMID:32296183   PMID:32388438   PMID:32410861   PMID:32437778   PMID:32814053  
PMID:32921312   PMID:33130088   PMID:33403595   PMID:33544467   PMID:33640722   PMID:33961781   PMID:34185819   PMID:34394117   PMID:34634315   PMID:34732716   PMID:36284290   PMID:36614113  
PMID:36775868   PMID:37092549   PMID:38096951   PMID:38643717   PMID:39499777  


Genomics

Comparative Map Data
APOA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811116,820,700 - 116,823,304 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11116,820,700 - 116,823,304 (-)EnsemblGRCh38hg38GRCh38
GRCh3711116,691,416 - 116,694,020 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,196,628 - 116,199,221 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411116,196,628 - 116,199,162NCBI
Celera11113,849,234 - 113,851,827 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,623,690 - 112,626,283 (-)NCBIHuRef
CHM1_111116,576,178 - 116,578,767 (-)NCBICHM1_1
T2T-CHM13v2.011116,835,812 - 116,838,412 (-)NCBIT2T-CHM13v2.0
Apoa4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39946,152,142 - 46,154,756 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl946,151,994 - 46,154,757 (+)EnsemblGRCm39 Ensembl
GRCm38946,240,844 - 46,243,458 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl946,240,696 - 46,243,459 (+)EnsemblGRCm38mm10GRCm38
MGSCv37946,048,927 - 46,051,541 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36945,992,149 - 45,994,285 (+)NCBIMGSCv36mm8
Celera943,529,774 - 43,532,388 (+)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map925.36NCBI
Apoa4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8855,435,779 - 55,438,160 (+)NCBIGRCr8
mRatBN7.2846,539,083 - 46,541,464 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl846,539,082 - 46,541,469 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx852,040,348 - 52,042,728 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0850,319,122 - 50,321,502 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0848,183,398 - 48,185,778 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0850,536,983 - 50,539,371 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl850,537,009 - 50,539,376 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0849,163,055 - 49,165,333 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4849,233,142 - 49,233,431 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1849,245,005 - 49,245,297 (+)NCBI
Celera846,121,074 - 46,123,455 (+)NCBICelera
RH 3.4 Map8473.3RGD
Cytogenetic Map8q22NCBI
Apoa4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541218,155,801 - 18,160,701 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541218,158,095 - 18,160,636 (-)NCBIChiLan1.0ChiLan1.0
APOA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29117,524,912 - 117,527,516 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111118,630,121 - 118,632,725 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011111,659,186 - 111,661,790 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111115,591,788 - 115,594,382 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11115,591,788 - 115,594,382 (-)Ensemblpanpan1.1panPan2
APOA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1516,751,588 - 16,754,215 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl516,751,799 - 16,754,837 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha516,803,839 - 16,806,395 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0516,698,167 - 16,700,719 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl516,698,240 - 16,701,326 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1516,835,250 - 16,837,800 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0516,737,834 - 16,740,384 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0516,780,743 - 16,783,293 (+)NCBIUU_Cfam_GSD_1.0
Apoa4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494799,177,114 - 99,179,837 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365422,098,683 - 2,101,127 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365422,098,683 - 2,101,127 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APOA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl944,201,508 - 44,204,206 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1944,201,587 - 44,204,072 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2949,273,837 - 49,276,322 (-)NCBISscrofa10.2Sscrofa10.2susScr3
APOA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11108,186,627 - 108,190,508 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1108,186,921 - 108,189,698 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604317,861,078 - 17,863,578 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Apoa4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478412,233,593 - 12,239,763 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478412,237,329 - 12,240,013 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in APOA4
132 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000482.4(APOA4):c.1140G>T (p.Gln380His) single nucleotide variant APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 [RCV000019494]|not provided [RCV001723580] Chr11:116820918 [GRCh38]
Chr11:116691634 [GRCh37]
Chr11:11q23.3		 pathogenic|benign
APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 insertion APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 [RCV000019495] Chr11:11q23 pathogenic|other
NM_000482.3(APOA4):c.748G>A (p.Glu250Lys) single nucleotide variant APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3 [RCV000019496]|not provided [RCV003556049] Chr11:116821310 [GRCh38]
Chr11:116692026 [GRCh37]
Chr11:11q23.3		 pathogenic|benign|other
APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*5 insertion APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*5 [RCV000019497] Chr11:11q23 pathogenic|other
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
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 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 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_000482.4(APOA4):c.661C>T (p.Arg221Cys) single nucleotide variant not specified [RCV004313929] Chr11:116821397 [GRCh38]
Chr11:116692113 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.520A>G (p.Ser174Gly) single nucleotide variant not provided [RCV003549051]|not specified [RCV004333538] Chr11:116821538 [GRCh38]
Chr11:116692254 [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
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
NM_000482.4(APOA4):c.-98G>A single nucleotide variant not provided [RCV001645685] Chr11:116823289 [GRCh38]
Chr11:116694005 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.176+21C>T single nucleotide variant not provided [RCV001644499] Chr11:116822638 [GRCh38]
Chr11:116693354 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.1057T>G (p.Ser353Ala) single nucleotide variant not provided [RCV000881516] Chr11:116821001 [GRCh38]
Chr11:116691717 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.1005C>T (p.Asp335=) single nucleotide variant not provided [RCV000942179] Chr11:116821053 [GRCh38]
Chr11:116691769 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.1008G>T (p.Val336=) single nucleotide variant not provided [RCV000971019] Chr11:116821050 [GRCh38]
Chr11:116691766 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.115A>C (p.Ser39Arg) single nucleotide variant not specified [RCV004313068] Chr11:116822720 [GRCh38]
Chr11:116693436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.814G>A (p.Glu272Lys) single nucleotide variant not provided [RCV003104504] Chr11:116821244 [GRCh38]
Chr11:116691960 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.931G>A (p.Gly311Arg) single nucleotide variant not provided [RCV003104755] Chr11:116821127 [GRCh38]
Chr11:116691843 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.*56TGTC[3] microsatellite not provided [RCV001638697] Chr11:116820796..116820799 [GRCh38]
Chr11:116691512..116691515 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.10:g.116823339C>G single nucleotide variant not provided [RCV001708342] Chr11:116823339 [GRCh38]
Chr11:116694055 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.846C>T (p.Thr282=) single nucleotide variant APOA4-related disorder [RCV003906084]|not provided [RCV000974530] Chr11:116821212 [GRCh38]
Chr11:116691928 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.780C>T (p.Ala260=) single nucleotide variant APOA4-related disorder [RCV004756141]|not provided [RCV000974531] Chr11:116821278 [GRCh38]
Chr11:116691994 [GRCh37]
Chr11:11q23.3		 benign
GRCh37/hg19 11q23.3(chr11:116660464-116711974)x1 copy number loss not provided [RCV002472758] Chr11:116660464..116711974 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.177-97C>T single nucleotide variant not provided [RCV001608267] Chr11:116821978 [GRCh38]
Chr11:116692694 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.450C>T (p.Ala150=) single nucleotide variant not provided [RCV001663343] Chr11:116821608 [GRCh38]
Chr11:116692324 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.440G>A (p.Ser147Asn) single nucleotide variant not provided [RCV001678485] Chr11:116821618 [GRCh38]
Chr11:116692334 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.176+212T>C single nucleotide variant not provided [RCV001654142] Chr11:116822447 [GRCh38]
Chr11:116693163 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.176+162C>T single nucleotide variant not provided [RCV001638264] Chr11:116822497 [GRCh38]
Chr11:116693213 [GRCh37]
Chr11:11q23.3		 benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_000482.4(APOA4):c.176+22G>A single nucleotide variant not provided [RCV001671033] Chr11:116822637 [GRCh38]
Chr11:116693353 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.216C>T (p.Tyr72=) single nucleotide variant APOA4-related disorder [RCV003968508]|not provided [RCV001713260] Chr11:116821842 [GRCh38]
Chr11:116692558 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.1099A>T (p.Thr367Ser) single nucleotide variant not provided [RCV001651693] Chr11:116820959 [GRCh38]
Chr11:116691675 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.177-216C>G single nucleotide variant not provided [RCV001665965] Chr11:116822097 [GRCh38]
Chr11:116692813 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.87G>A (p.Thr29=) single nucleotide variant not provided [RCV001708716] Chr11:116822748 [GRCh38]
Chr11:116693464 [GRCh37]
Chr11:11q23.3		 benign
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
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_000482.4(APOA4):c.931G>C (p.Gly311Arg) single nucleotide variant not provided [RCV002020950] Chr11:116821127 [GRCh38]
Chr11:116691843 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.910C>T (p.Arg304Ter) single nucleotide variant not provided [RCV001964266] Chr11:116821148 [GRCh38]
Chr11:116691864 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.820G>A (p.Val274Met) single nucleotide variant not provided [RCV001960277]|not specified [RCV004043188] Chr11:116821238 [GRCh38]
Chr11:116691954 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000482.4(APOA4):c.1006G>A (p.Val336Met) single nucleotide variant not provided [RCV002049113] Chr11:116821052 [GRCh38]
Chr11:116691768 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NC_000011.9:g.(?_116691583)_(116693907_?)del deletion not provided [RCV001995843] Chr11:116691583..116693907 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.1145A>G (p.Glu382Gly) single nucleotide variant not provided [RCV001877046] Chr11:116820913 [GRCh38]
Chr11:116691629 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.481G>A (p.Ala161Thr) single nucleotide variant not provided [RCV002049273] Chr11:116821577 [GRCh38]
Chr11:116692293 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.598C>T (p.Arg200Cys) single nucleotide variant not provided [RCV001921096] Chr11:116821460 [GRCh38]
Chr11:116692176 [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
NM_000482.4(APOA4):c.998C>T (p.Ala333Val) single nucleotide variant not provided [RCV001976970]|not specified [RCV004045254] Chr11:116821060 [GRCh38]
Chr11:116691776 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.930C>T (p.Tyr310=) single nucleotide variant not provided [RCV002109880] Chr11:116821128 [GRCh38]
Chr11:116691844 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.37G>A (p.Val13Met) single nucleotide variant APOA4-related disorder [RCV003923738]|not provided [RCV002125519] Chr11:116823155 [GRCh38]
Chr11:116693871 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000482.4(APOA4):c.481G>T (p.Ala161Ser) single nucleotide variant not provided [RCV002124979] Chr11:116821577 [GRCh38]
Chr11:116821577..116821578 [GRCh38]
Chr11:116692293 [GRCh37]
Chr11:116692293..116692294 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.325C>T (p.Leu109=) single nucleotide variant not provided [RCV002125080] Chr11:116821733 [GRCh38]
Chr11:116692449 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.534G>A (p.Ser178=) single nucleotide variant not provided [RCV002124494] Chr11:116821524 [GRCh38]
Chr11:116692240 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.381C>A (p.Asn127Lys) single nucleotide variant APOA4-related disorder [RCV003911305]|not provided [RCV002215151] Chr11:116821677 [GRCh38]
Chr11:116692393 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.33C>T (p.Ala11=) single nucleotide variant not provided [RCV002159531] Chr11:116823159 [GRCh38]
Chr11:116693875 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.1104C>T (p.Leu368=) single nucleotide variant not provided [RCV002137816] Chr11:116820954 [GRCh38]
Chr11:116691670 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.553G>A (p.Glu185Lys) single nucleotide variant not provided [RCV002200849] Chr11:116821505 [GRCh38]
Chr11:116692221 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.1134_1145dup (p.376QQEQ[4]) duplication APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 [RCV002223142]|not provided [RCV002083472] Chr11:116820912..116820913 [GRCh38]
Chr11:116691628..116691629 [GRCh37]
Chr11:11q23.3		 benign|other
NM_000482.4(APOA4):c.1099A>G (p.Thr367Ala) single nucleotide variant not provided [RCV002198529] Chr11:116820959 [GRCh38]
Chr11:116691675 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.176+17T>G single nucleotide variant not provided [RCV002138106] Chr11:116822642 [GRCh38]
Chr11:116693358 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.222T>C (p.Gly74=) single nucleotide variant not provided [RCV002138473] Chr11:116821836 [GRCh38]
Chr11:116692552 [GRCh37]
Chr11:11q23.3		 benign
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_000482.4(APOA4):c.835A>C (p.Arg279=) single nucleotide variant not provided [RCV003112030] Chr11:116821223 [GRCh38]
Chr11:116691939 [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_000482.4(APOA4):c.257A>G (p.Glu86Gly) single nucleotide variant not specified [RCV004306449] Chr11:116821801 [GRCh38]
Chr11:116692517 [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_000482.4(APOA4):c.483A>G (p.Ala161=) single nucleotide variant not provided [RCV002615579] Chr11:116821575 [GRCh38]
Chr11:116692291 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.136G>A (p.Val46Met) single nucleotide variant not provided [RCV002690422] Chr11:116822699 [GRCh38]
Chr11:116693415 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.848A>C (p.Glu283Ala) single nucleotide variant not specified [RCV004603348] Chr11:116821210 [GRCh38]
Chr11:116691926 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.373G>A (p.Gly125Arg) single nucleotide variant not specified [RCV004192916] Chr11:116821685 [GRCh38]
Chr11:116692401 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.512A>G (p.Asn171Ser) single nucleotide variant not specified [RCV004160287] Chr11:116821546 [GRCh38]
Chr11:116692262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.475C>T (p.Pro159Ser) single nucleotide variant not specified [RCV004118501] Chr11:116821583 [GRCh38]
Chr11:116692299 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.254C>T (p.Thr85Ile) single nucleotide variant not specified [RCV004222613] Chr11:116821804 [GRCh38]
Chr11:116692520 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.819C>T (p.Asp273=) single nucleotide variant APOA4-related disorder [RCV003936410]|not provided [RCV002910224] Chr11:116821239 [GRCh38]
Chr11:116691955 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000482.4(APOA4):c.1079A>C (p.Glu360Ala) single nucleotide variant not provided [RCV003022013] Chr11:116820979 [GRCh38]
Chr11:116691695 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.255C>T (p.Thr85=) single nucleotide variant not provided [RCV002927147] Chr11:116821803 [GRCh38]
Chr11:116692519 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.988G>T (p.Gly330Cys) single nucleotide variant not provided [RCV002760890] Chr11:116821070 [GRCh38]
Chr11:116691786 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.570C>A (p.Ile190=) single nucleotide variant not provided [RCV002999290] Chr11:116821488 [GRCh38]
Chr11:116692204 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.888G>A (p.Leu296=) single nucleotide variant not provided [RCV002910073] Chr11:116821170 [GRCh38]
Chr11:116691886 [GRCh37]
Chr11:11q23.3		 benign
NM_000482.4(APOA4):c.1138CAGCAGGAGCAG[1] (p.376QQEQ[2]) microsatellite not provided [RCV002952795] Chr11:116820897..116820908 [GRCh38]
Chr11:116691613..116691624 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.363C>G (p.Ser121Arg) single nucleotide variant not specified [RCV004151390] Chr11:116821695 [GRCh38]
Chr11:116692411 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.149A>G (p.Gln50Arg) single nucleotide variant not provided [RCV005099045]|not specified [RCV004215512] Chr11:116822686 [GRCh38]
Chr11:116693402 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.969A>G (p.Glu323=) single nucleotide variant not provided [RCV002666867] Chr11:116821089 [GRCh38]
Chr11:116691805 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.820G>T (p.Val274Leu) single nucleotide variant not specified [RCV004085415] Chr11:116821238 [GRCh38]
Chr11:116691954 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.901G>C (p.Glu301Gln) single nucleotide variant not specified [RCV004116877] Chr11:116821157 [GRCh38]
Chr11:116691873 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.400C>A (p.Arg134Ser) single nucleotide variant not specified [RCV004126791] Chr11:116821658 [GRCh38]
Chr11:116692374 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.790C>T (p.Arg264Trp) single nucleotide variant not specified [RCV004207141] Chr11:116821268 [GRCh38]
Chr11:116691984 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.550G>A (p.Asp184Asn) single nucleotide variant not specified [RCV004197927] Chr11:116821508 [GRCh38]
Chr11:116692224 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.148C>A (p.Gln50Lys) single nucleotide variant not specified [RCV004148109] Chr11:116822687 [GRCh38]
Chr11:116693403 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.916C>T (p.Arg306Trp) single nucleotide variant not provided [RCV002915006] Chr11:116821142 [GRCh38]
Chr11:116691858 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.179C>A (p.Ala60Asp) single nucleotide variant not provided [RCV002575505]|not specified [RCV004064390] Chr11:116821879 [GRCh38]
Chr11:116692595 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.460C>T (p.Arg154Trp) single nucleotide variant not provided [RCV002766103] Chr11:116821598 [GRCh38]
Chr11:116692314 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.655C>A (p.Leu219Met) single nucleotide variant not provided [RCV002580299] Chr11:116821403 [GRCh38]
Chr11:116692119 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.400C>T (p.Arg134Cys) single nucleotide variant not specified [RCV004158318] Chr11:116821658 [GRCh38]
Chr11:116692374 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.508G>C (p.Glu170Gln) single nucleotide variant not specified [RCV004181915] Chr11:116821550 [GRCh38]
Chr11:116692266 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.619G>A (p.Glu207Lys) single nucleotide variant not provided [RCV002576925] Chr11:116821439 [GRCh38]
Chr11:116692155 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.16G>A (p.Val6Met) single nucleotide variant not provided [RCV003064562] Chr11:116823176 [GRCh38]
Chr11:116693892 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.284C>T (p.Ser95Leu) single nucleotide variant not specified [RCV004090555] Chr11:116821774 [GRCh38]
Chr11:116692490 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.769T>G (p.Ser257Ala) single nucleotide variant not specified [RCV004089295] Chr11:116821289 [GRCh38]
Chr11:116692005 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.704A>G (p.Asn235Ser) single nucleotide variant not provided [RCV002962518] Chr11:116821354 [GRCh38]
Chr11:116692070 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.514G>A (p.Ala172Thr) single nucleotide variant not provided [RCV005099129]|not specified [RCV004230371] Chr11:116821544 [GRCh38]
Chr11:116692260 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.791G>A (p.Arg264Gln) single nucleotide variant not provided [RCV002942146] Chr11:116821267 [GRCh38]
Chr11:116691983 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.508G>A (p.Glu170Lys) single nucleotide variant not specified [RCV004599454] Chr11:116821550 [GRCh38]
Chr11:116692266 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000482.4(APOA4):c.353A>C (p.Asn118Thr) single nucleotide variant not specified [RCV004275049] Chr11:116821705 [GRCh38]
Chr11:116692421 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.911G>A (p.Arg304Gln) single nucleotide variant not specified [RCV004256592] Chr11:116821147 [GRCh38]
Chr11:116691863 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.292C>T (p.Leu98=) single nucleotide variant not provided [RCV003666177] Chr11:116821766 [GRCh38]
Chr11:116692482 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.823C>T (p.Arg275Cys) single nucleotide variant not provided [RCV003730539]|not specified [RCV004337331] Chr11:116821235 [GRCh38]
Chr11:116691951 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.461G>T (p.Arg154Leu) single nucleotide variant not provided [RCV003738441]|not specified [RCV004343478] Chr11:116821597 [GRCh38]
Chr11:116692313 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:116681008-116826215)x1 copy number loss not provided [RCV003483142] Chr11:116681008..116826215 [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
NM_000482.4(APOA4):c.415G>A (p.Ala139Thr) single nucleotide variant APOA4-related disorder [RCV003408782] Chr11:116821643 [GRCh38]
Chr11:116692359 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.480C>T (p.Tyr160=) single nucleotide variant not provided [RCV003398146] Chr11:116821578 [GRCh38]
Chr11:116692294 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.176+17T>C single nucleotide variant not provided [RCV003831564] Chr11:116822642 [GRCh38]
Chr11:116693358 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.505C>T (p.Arg169Trp) single nucleotide variant not provided [RCV003826886] Chr11:116821553 [GRCh38]
Chr11:116692269 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.482C>T (p.Ala161Val) single nucleotide variant not provided [RCV003697780] Chr11:116821576 [GRCh38]
Chr11:116692292 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.813C>T (p.Ala271=) single nucleotide variant not provided [RCV003852236] Chr11:116821245 [GRCh38]
Chr11:116691961 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.114G>A (p.Leu38=) single nucleotide variant not provided [RCV003836412] Chr11:116822721 [GRCh38]
Chr11:116693437 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.1153C>A (p.Gln385Lys) single nucleotide variant not provided [RCV003559152] Chr11:116820905 [GRCh38]
Chr11:116691621 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.451G>A (p.Glu151Lys) single nucleotide variant not provided [RCV003817496] Chr11:116821607 [GRCh38]
Chr11:116692323 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.1178C>T (p.Pro393Leu) single nucleotide variant not provided [RCV003814185] Chr11:116820880 [GRCh38]
Chr11:116691596 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.176+2_176+5del deletion not provided [RCV003703457] Chr11:116822654..116822657 [GRCh38]
Chr11:116693370..116693373 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.718_721dup (p.Leu241fs) duplication not provided [RCV003817144] Chr11:116821336..116821337 [GRCh38]
Chr11:116692052..116692053 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.533C>T (p.Ser178Leu) single nucleotide variant not provided [RCV003557667] Chr11:116821525 [GRCh38]
Chr11:116692241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.913C>A (p.Arg305Ser) single nucleotide variant not provided [RCV003548722] Chr11:116821145 [GRCh38]
Chr11:116691861 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.1165C>T (p.Gln389Ter) single nucleotide variant not provided [RCV003834269] Chr11:116820893 [GRCh38]
Chr11:116691609 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.498A>T (p.Arg166Ser) single nucleotide variant not provided [RCV003866592] Chr11:116821560 [GRCh38]
Chr11:116692276 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.913C>T (p.Arg305Cys) single nucleotide variant not provided [RCV003735736] Chr11:116821145 [GRCh38]
Chr11:116691861 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.427C>T (p.Arg143Cys) single nucleotide variant not provided [RCV003728489] Chr11:116821631 [GRCh38]
Chr11:116692347 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.334C>T (p.Arg112Trp) single nucleotide variant not provided [RCV003553777] Chr11:116821724 [GRCh38]
Chr11:116692440 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.1120G>A (p.Glu374Lys) single nucleotide variant not provided [RCV003860969] Chr11:116820938 [GRCh38]
Chr11:116691654 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.479A>G (p.Tyr160Cys) single nucleotide variant not provided [RCV003542672] Chr11:116821579 [GRCh38]
Chr11:116692295 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.401G>A (p.Arg134His) single nucleotide variant not provided [RCV003551747] Chr11:116821657 [GRCh38]
Chr11:116692373 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.1054A>T (p.Asn352Tyr) single nucleotide variant not provided [RCV003557298] Chr11:116821004 [GRCh38]
Chr11:116691720 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.919G>C (p.Val307Leu) single nucleotide variant not provided [RCV003727319] Chr11:116821139 [GRCh38]
Chr11:116691855 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.293T>G (p.Leu98Arg) single nucleotide variant not provided [RCV003736298] Chr11:116821765 [GRCh38]
Chr11:116692481 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.13G>A (p.Ala5Thr) single nucleotide variant not provided [RCV003684185] Chr11:116823179 [GRCh38]
Chr11:116693895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.269G>A (p.Arg90His) single nucleotide variant not provided [RCV003552154] Chr11:116821789 [GRCh38]
Chr11:116692505 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.599G>A (p.Arg200His) single nucleotide variant not provided [RCV003853680] Chr11:116821459 [GRCh38]
Chr11:116692175 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.827G>A (p.Gly276Asp) single nucleotide variant not provided [RCV003680576] Chr11:116821231 [GRCh38]
Chr11:116691947 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.803C>T (p.Ala268Val) single nucleotide variant not provided [RCV003734478] Chr11:116821255 [GRCh38]
Chr11:116691971 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.662G>T (p.Arg221Leu) single nucleotide variant not specified [RCV004417726] Chr11:116821396 [GRCh38]
Chr11:116692112 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.777T>G (p.Ser259Arg) single nucleotide variant not specified [RCV004417727] Chr11:116821281 [GRCh38]
Chr11:116691997 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.15C>T (p.Ala5=) single nucleotide variant APOA4-related disorder [RCV003961834] Chr11:116823177 [GRCh38]
Chr11:116693893 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000482.4(APOA4):c.7C>T (p.Leu3=) single nucleotide variant APOA4-related disorder [RCV003934194] Chr11:116823185 [GRCh38]
Chr11:116693901 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.404T>C (p.Leu135Pro) single nucleotide variant not specified [RCV004417722] Chr11:116821654 [GRCh38]
Chr11:116692370 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.662G>A (p.Arg221His) single nucleotide variant not specified [RCV004417725] Chr11:116821396 [GRCh38]
Chr11:116692112 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.646G>A (p.Val216Met) single nucleotide variant not specified [RCV004417724] Chr11:116821412 [GRCh38]
Chr11:116692128 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116662282)_(116708103_?)dup duplication not provided [RCV004580294] Chr11:116662282..116708103 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(116707147_?)dup duplication not provided [RCV004580295] Chr11:116660844..116707147 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116691583)_(116708103_?)del deletion not provided [RCV004580293] Chr11:116691583..116708103 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000482.4(APOA4):c.515C>T (p.Ala172Val) single nucleotide variant not specified [RCV004657368] Chr11:116821543 [GRCh38]
Chr11:116692259 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.515C>A (p.Ala172Asp) single nucleotide variant not specified [RCV004648438] Chr11:116821543 [GRCh38]
Chr11:116692259 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.635T>C (p.Ile212Thr) single nucleotide variant not specified [RCV004836268] Chr11:116821423 [GRCh38]
Chr11:116692139 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.59C>A (p.Ala20Asp) single nucleotide variant not specified [RCV004836275] Chr11:116822776 [GRCh38]
Chr11:116693492 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.540G>T (p.Arg180Ser) single nucleotide variant not specified [RCV004836260] Chr11:116821518 [GRCh38]
Chr11:116692234 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.317T>C (p.Leu106Pro) single nucleotide variant not specified [RCV004836285] Chr11:116821741 [GRCh38]
Chr11:116692457 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.196C>G (p.Leu66Val) single nucleotide variant TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 6 [RCV005229747] Chr11:116821862 [GRCh38]
Chr11:116692578 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000482.4(APOA4):c.97G>A (p.Asp33Asn) single nucleotide variant TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 6 [RCV005229748] Chr11:116822738 [GRCh38]
Chr11:116693454 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000482.4(APOA4):c.1074C>T (p.Phe358=) single nucleotide variant not provided [RCV005065710] Chr11:116820984 [GRCh38]
Chr11:116691700 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.546C>T (p.His182=) single nucleotide variant not provided [RCV005065666] Chr11:116821512 [GRCh38]
Chr11:116692228 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.580G>A (p.Val194Met) single nucleotide variant not provided [RCV005060683] Chr11:116821478 [GRCh38]
Chr11:116692194 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.659G>A (p.Arg220His) single nucleotide variant not provided [RCV005060268] Chr11:116821399 [GRCh38]
Chr11:116692115 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.629T>A (p.Val210Asp) single nucleotide variant not provided [RCV005085112] Chr11:116821429 [GRCh38]
Chr11:116692145 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.116G>A (p.Ser39Asn) single nucleotide variant not provided [RCV005125041] Chr11:116822719 [GRCh38]
Chr11:116693435 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.1138CAGCAGGAGCAG[3] (p.Gln387_Val388insGlnGlnGluGln) microsatellite not provided [RCV005200245] Chr11:116820896..116820897 [GRCh38]
Chr11:116691612..116691613 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.1017C>G (p.His339Gln) single nucleotide variant not provided [RCV005176910] Chr11:116821041 [GRCh38]
Chr11:116691757 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.1058C>T (p.Ser353Phe) single nucleotide variant not provided [RCV005189204] Chr11:116821000 [GRCh38]
Chr11:116691716 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.739A>G (p.Lys247Glu) single nucleotide variant not provided [RCV005083609] Chr11:116821319 [GRCh38]
Chr11:116692035 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.200G>A (p.Gly67Glu) single nucleotide variant not provided [RCV005169910] Chr11:116821858 [GRCh38]
Chr11:116692574 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.320A>T (p.Glu107Val) single nucleotide variant not provided [RCV005192871] Chr11:116821738 [GRCh38]
Chr11:116692454 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.259C>A (p.Leu87Met) single nucleotide variant not provided [RCV005076892] Chr11:116821799 [GRCh38]
Chr11:116692515 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.220G>A (p.Gly74Ser) single nucleotide variant not provided [RCV005111303] Chr11:116821838 [GRCh38]
Chr11:116692554 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.999G>A (p.Ala333=) single nucleotide variant not provided [RCV005189022] Chr11:116821059 [GRCh38]
Chr11:116691775 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.1158G>A (p.Glu386=) single nucleotide variant not provided [RCV005165938] Chr11:116820900 [GRCh38]
Chr11:116691616 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000482.4(APOA4):c.572A>G (p.Asp191Gly) single nucleotide variant not provided [RCV005081532] Chr11:116821486 [GRCh38]
Chr11:116692202 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000482.4(APOA4):c.86C>T (p.Thr29Met) single nucleotide variant not provided [RCV005069032] Chr11:116822749 [GRCh38]
Chr11:116693465 [GRCh37]
Chr11:11q23.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:241
Count of miRNA genes:228
Interacting mature miRNAs:236
Transcripts:ENST00000357780
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597255707GWAS1351781_Htotal cholesterol measurement QTL GWAS1351781 (human)9e-20total cholesterol measurementblood total cholesterol level (CMO:0000051)11116823155116823156Human
597326366GWAS1422440_Htriglyceride measurement QTL GWAS1422440 (human)7e-13triglyceride measurementblood triglyceride level (CMO:0000118)11116821618116821619Human
597191702GWAS1287776_Hlevel of Diacylglycerol (18:1_18:2) in blood serum QTL GWAS1287776 (human)0.0000003level of Diacylglycerol (18:1_18:2) in blood serum11116821618116821619Human
597224407GWAS1320481_Hapolipoprotein B measurement QTL GWAS1320481 (human)6e-27apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)11116823155116823156Human
597158919GWAS1254993_Htriglyceride:HDL cholesterol ratio QTL GWAS1254993 (human)1e-32blood triglyceride amount (VT:0002644)11116821577116821578Human
597176456GWAS1272530_Hapolipoprotein A-IV measurement QTL GWAS1272530 (human)2e-26apolipoprotein A-IV measurementblood apolipoprotein level (CMO:0000518)11116821577116821578Human
597158790GWAS1254864_Htriglyceride:HDL cholesterol ratio QTL GWAS1254864 (human)2e-56blood triglyceride amount (VT:0002644)11116821577116821578Human
597145990GWAS1242064_Htriglyceride measurement QTL GWAS1242064 (human)5e-81triglyceride measurementblood triglyceride level (CMO:0000118)11116823155116823156Human
597251904GWAS1347978_Hapolipoprotein A 1 measurement QTL GWAS1347978 (human)2e-74apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)11116821577116821578Human
597255616GWAS1351690_Htriglyceride measurement QTL GWAS1351690 (human)2e-91triglyceride measurementblood triglyceride level (CMO:0000118)11116823155116823156Human
597243330GWAS1339404_Hhigh density lipoprotein cholesterol measurement QTL GWAS1339404 (human)9e-81high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11116821577116821578Human
597181123GWAS1277197_Hpotassium voltage-gated channel subfamily A member 10 measurement QTL GWAS1277197 (human)2e-12potassium voltage-gated channel subfamily A member 10 measurement11116821577116821578Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
597240260GWAS1336334_Hhigh density lipoprotein cholesterol measurement QTL GWAS1336334 (human)3e-16high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11116822638116822639Human
597143881GWAS1239955_Hhigh density lipoprotein cholesterol measurement QTL GWAS1239955 (human)2e-18high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11116823155116823156Human
597152119GWAS1248193_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1248193 (human)3e-11triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)11116821577116821578Human
597155446GWAS1251520_Htriglyceride:HDL cholesterol ratio QTL GWAS1251520 (human)5e-62blood triglyceride amount (VT:0002644)11116821577116821578Human
597241087GWAS1337161_Hhigh density lipoprotein cholesterol measurement QTL GWAS1337161 (human)4e-20high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11116823155116823156Human
597328242GWAS1424316_Hsexual dimorphism measurement QTL GWAS1424316 (human)2e-10sexual dimorphism measurement11116823155116823156Human
597340595GWAS1436669_Hsexual dimorphism measurement QTL GWAS1436669 (human)1e-12sexual dimorphism measurement11116821618116821619Human
597339121GWAS1435195_Hcomplex trait QTL GWAS1435195 (human)5e-18complex trait11116821618116821619Human
597255789GWAS1351863_Htriglyceride measurement QTL GWAS1351863 (human)8e-83triglyceride measurementblood triglyceride level (CMO:0000118)11116821577116821578Human
597154081GWAS1250155_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1250155 (human)2e-16cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)11116821577116821578Human
597191584GWAS1287658_Htriacylglycerol 54:5 measurement QTL GWAS1287658 (human)0.000003blood triglyceride amount (VT:0002644)11116821618116821619Human
597244647GWAS1340721_Hlow density lipoprotein cholesterol measurement QTL GWAS1340721 (human)2e-19low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)11116823155116823156Human
597220967GWAS1317041_Hapolipoprotein A 1 measurement QTL GWAS1317041 (human)7e-23apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)11116822638116822639Human

Markers in Region
G44371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,691,636 - 116,691,734UniSTSGRCh37
Build 3611116,196,846 - 116,196,944RGDNCBI36
Celera11113,849,452 - 113,849,550RGD
Cytogenetic Map11q23UniSTS
HuRef11112,623,908 - 112,624,006UniSTS
GDB:185195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,691,586 - 116,692,597UniSTSGRCh37
Build 3611116,196,796 - 116,197,807RGDNCBI36
Celera11113,849,402 - 113,850,413RGD
Cytogenetic Map11q23UniSTS
HuRef11112,623,858 - 112,624,869UniSTS
GDB:187004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,693,439 - 116,694,131UniSTSGRCh37
Build 3611116,198,649 - 116,199,341RGDNCBI36
Celera11113,851,255 - 113,851,947RGD
Cytogenetic Map11q23UniSTS
HuRef11112,625,711 - 112,626,403UniSTS
GDB:555472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,693,353 - 116,693,523UniSTSGRCh37
Build 3611116,198,563 - 116,198,733RGDNCBI36
Celera11113,851,169 - 113,851,339RGD
Cytogenetic Map11q23UniSTS
HuRef11112,625,625 - 112,625,795UniSTS
ECD09091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,693,333 - 116,693,970UniSTSGRCh37
Build 3611116,198,543 - 116,199,180RGDNCBI36
Celera11113,851,149 - 113,851,786RGD
Cytogenetic Map11q23UniSTS
HuRef11112,625,605 - 112,626,242UniSTS
ECD09182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,691,656 - 116,692,291UniSTSGRCh37
Build 3611116,196,866 - 116,197,501RGDNCBI36
Celera11113,849,472 - 113,850,107RGD
Cytogenetic Map11q23UniSTS
HuRef11112,623,928 - 112,624,563UniSTS
ECD09878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,693,978 - 116,694,595UniSTSGRCh37
Build 3611116,199,188 - 116,199,805RGDNCBI36
Celera11113,851,794 - 113,852,411RGD
Cytogenetic Map11q23UniSTS
HuRef11112,626,250 - 112,626,867UniSTS
ECD12438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,692,613 - 116,693,156UniSTSGRCh37
Build 3611116,197,823 - 116,198,366RGDNCBI36
Celera11113,850,429 - 113,850,972RGD
Cytogenetic Map11q23UniSTS
HuRef11112,624,885 - 112,625,428UniSTS
ECD20167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,691,239 - 116,691,533UniSTSGRCh37
Build 3611116,196,449 - 116,196,743RGDNCBI36
Celera11113,849,055 - 113,849,349RGD
Cytogenetic Map11q23UniSTS
HuRef11112,623,511 - 112,623,805UniSTS
REN72989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,694,658 - 116,694,892UniSTSGRCh37
Build 3611116,199,868 - 116,200,102RGDNCBI36
Celera11113,852,474 - 113,852,708RGD
Cytogenetic Map11q23UniSTS
HuRef11112,626,930 - 112,627,164UniSTS
REN72990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,694,390 - 116,694,637UniSTSGRCh37
Build 3611116,199,600 - 116,199,847RGDNCBI36
Celera11113,852,206 - 113,852,453RGD
Cytogenetic Map11q23UniSTS
HuRef11112,626,662 - 112,626,909UniSTS
REN72991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,694,156 - 116,694,409UniSTSGRCh37
Build 3611116,199,366 - 116,199,619RGDNCBI36
Celera11113,851,972 - 113,852,225RGD
Cytogenetic Map11q23UniSTS
HuRef11112,626,428 - 112,626,681UniSTS
REN72992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,693,944 - 116,694,174UniSTSGRCh37
Build 3611116,199,154 - 116,199,384RGDNCBI36
Celera11113,851,760 - 113,851,990RGD
Cytogenetic Map11q23UniSTS
HuRef11112,626,216 - 112,626,446UniSTS
REN72993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,693,695 - 116,693,922UniSTSGRCh37
Build 3611116,198,905 - 116,199,132RGDNCBI36
Celera11113,851,511 - 113,851,738RGD
Cytogenetic Map11q23UniSTS
HuRef11112,625,967 - 112,626,194UniSTS
REN72994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,693,433 - 116,693,675UniSTSGRCh37
Build 3611116,198,643 - 116,198,885RGDNCBI36
Celera11113,851,249 - 113,851,491RGD
Cytogenetic Map11q23UniSTS
HuRef11112,625,705 - 112,625,947UniSTS
REN72995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,693,219 - 116,693,452UniSTSGRCh37
Build 3611116,198,429 - 116,198,662RGDNCBI36
Celera11113,851,035 - 113,851,268RGD
Cytogenetic Map11q23UniSTS
HuRef11112,625,491 - 112,625,724UniSTS
REN72996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,692,970 - 116,693,197UniSTSGRCh37
Build 3611116,198,180 - 116,198,407RGDNCBI36
Celera11113,850,786 - 113,851,013RGD
Cytogenetic Map11q23UniSTS
HuRef11112,625,242 - 112,625,469UniSTS
REN72997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,692,703 - 116,692,968UniSTSGRCh37
Build 3611116,197,913 - 116,198,178RGDNCBI36
Celera11113,850,519 - 113,850,784RGD
Cytogenetic Map11q23UniSTS
HuRef11112,624,975 - 112,625,240UniSTS
REN72998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,692,466 - 116,692,718UniSTSGRCh37
Build 3611116,197,676 - 116,197,928RGDNCBI36
Celera11113,850,282 - 113,850,534RGD
Cytogenetic Map11q23UniSTS
HuRef11112,624,738 - 112,624,990UniSTS
REN72999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,692,261 - 116,692,485UniSTSGRCh37
Build 3611116,197,471 - 116,197,695RGDNCBI36
Celera11113,850,077 - 113,850,301RGD
Cytogenetic Map11q23UniSTS
HuRef11112,624,533 - 112,624,757UniSTS
REN73000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,692,032 - 116,692,268UniSTSGRCh37
Build 3611116,197,242 - 116,197,478RGDNCBI36
Celera11113,849,848 - 113,850,084RGD
Cytogenetic Map11q23UniSTS
HuRef11112,624,304 - 112,624,540UniSTS
REN73001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,691,739 - 116,692,013UniSTSGRCh37
Build 3611116,196,949 - 116,197,223RGDNCBI36
Celera11113,849,555 - 113,849,829RGD
Cytogenetic Map11q23UniSTS
HuRef11112,624,011 - 112,624,285UniSTS
REN73002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,691,510 - 116,691,758UniSTSGRCh37
Build 3611116,196,720 - 116,196,968RGDNCBI36
Celera11113,849,326 - 113,849,574RGD
Cytogenetic Map11q23UniSTS
HuRef11112,623,782 - 112,624,030UniSTS
REN73003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,691,293 - 116,691,526UniSTSGRCh37
Build 3611116,196,503 - 116,196,736RGDNCBI36
Celera11113,849,109 - 113,849,342RGD
Cytogenetic Map11q23UniSTS
HuRef11112,623,565 - 112,623,798UniSTS
REN73004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,691,069 - 116,691,312UniSTSGRCh37
Build 3611116,196,279 - 116,196,522RGDNCBI36
Celera11113,848,885 - 113,849,128RGD
Cytogenetic Map11q23UniSTS
HuRef11112,623,341 - 112,623,584UniSTS
stSG601802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,691,297 - 116,692,662UniSTSGRCh37
Build 3611116,196,507 - 116,197,872RGDNCBI36
Celera11113,849,113 - 113,850,478RGD
HuRef11112,623,569 - 112,624,934UniSTS
stSG601803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,692,643 - 116,693,794UniSTSGRCh37
Build 3611116,197,853 - 116,199,004RGDNCBI36
Celera11113,850,459 - 113,851,610RGD
HuRef11112,624,915 - 112,626,066UniSTS
stSG601804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,693,761 - 116,694,762UniSTSGRCh37
Build 3611116,198,971 - 116,199,972RGDNCBI36
Celera11113,851,577 - 113,852,578RGD
HuRef11112,626,033 - 112,627,034UniSTS
WI-19503  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q23UniSTS
HuRef11112,626,377 - 112,626,590UniSTS
GeneMap99-GB4 RH Map11373.38UniSTS
Whitehead-RH Map11513.9UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
503 1457 1326 1319 1774 1238 1398 521 672 443 853 3611 2957 6 1325 267 976 834 81

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL531739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY422950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY555191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113596 (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
  EU429935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000357780   ⟹   ENSP00000350425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,820,700 - 116,823,304 (-)Ensembl
RefSeq Acc Id: NM_000482   ⟹   NP_000473
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,820,700 - 116,823,304 (-)NCBI
GRCh3711116,691,418 - 116,694,011 (-)ENTREZGENE
Build 3611116,196,628 - 116,199,221 (-)NCBI Archive
HuRef11112,623,690 - 112,626,283 (-)ENTREZGENE
CHM1_111116,576,178 - 116,578,767 (-)NCBI
T2T-CHM13v2.011116,835,812 - 116,838,412 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000473   ⟸   NM_000482
- Peptide Label: precursor
- UniProtKB: Q14CW8 (UniProtKB/Swiss-Prot),   P06727 (UniProtKB/Swiss-Prot),   A8MSL6 (UniProtKB/Swiss-Prot),   Q6Q787 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000350425   ⟸   ENST00000357780

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P06727-F1-model_v2 AlphaFold P06727 1-396 view protein structure

Promoters
RGD ID:7222215
Promoter ID:EPDNEW_H16853
Type:multiple initiation site
Name:APOA4_1
Description:apolipoprotein A4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,823,304 - 116,823,364EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:602 AgrOrtholog
COSMIC APOA4 COSMIC
Ensembl Genes ENSG00000110244 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000357780 ENTREZGENE
  ENST00000357780.5 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.250.2890 UniProtKB/TrEMBL
  Apolipoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110244 GTEx
HGNC ID HGNC:602 ENTREZGENE
Human Proteome Map APOA4 Human Proteome Map
InterPro ApoA_E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Apolipoprotein_A1/A4/E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:337 UniProtKB/Swiss-Prot
NCBI Gene 337 ENTREZGENE
OMIM 107690 OMIM
PANTHER APOLIPOPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APOLIPOPROTEIN A-IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Apolipoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB APOA4 RGD, PharmGKB
Superfamily-SCOP Apolipoprotein UniProtKB/TrEMBL
  Apolipoprotein A-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MSL6 ENTREZGENE
  APOA4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13784_HUMAN UniProtKB/TrEMBL
  Q14CW8 ENTREZGENE
  Q6Q787 ENTREZGENE
UniProt Secondary A8MSL6 UniProtKB/Swiss-Prot
  Q14CW8 UniProtKB/Swiss-Prot
  Q6Q787 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 APOA4  apolipoprotein A4    apolipoprotein A-IV  Symbol and/or name change 5135510 APPROVED