APOA5 (apolipoprotein A5) - Rat Genome Database

Name: APOA5
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) (beta) 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) Overgo Probe Designer Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 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 PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

Gene: APOA5 (apolipoprotein A5) Homo sapiens

Analyze

Symbol:

APOA5

Name:

apolipoprotein A5

RGD ID:

736192

HGNC Page

HGNC:17288

Description:

Enables several functions, including heparin binding activity; lipase binding activity; and lipoprotein lipase activator activity. Involved in several processes, including cholesterol homeostasis; positive regulation of lipid metabolic process; and positive regulation of lipoprotein lipase activity. Located in extracellular space. Part of chylomicron; high-density lipoprotein particle; and very-low-density lipoprotein particle. Implicated in cerebral infarction; coronary artery disease; familial hyperlipidemia (multiple); and type 2 diabetes mellitus. Biomarker of type 2 diabetes mellitus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

apo-AV; APOA-V; APOAV; apolipoprotein A-V; apolipoprotein A-V precursor variant 3; FLJ97995; MGC126836; MGC126838; RAP3; regeneration-associated protein 3

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Apoa5 (apolipoprotein A-V)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Apoa5 (apolipoprotein A5)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Apoa5 (apolipoprotein A5)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	APOA5 (apolipoprotein A5)	NCBI	Ortholog
Canis lupus familiaris (dog):	APOA5 (apolipoprotein A5)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Apoa5 (apolipoprotein A5)	NCBI	Ortholog
Sus scrofa (pig):	APOA5 (apolipoprotein A5)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	APOA5 (apolipoprotein A5)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Apoa5 (apolipoprotein A5)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	ZPR1 (ZPR1 zinc finger)	HGNC	EggNOG, OMA, Treefam
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Apoa5 (apolipoprotein A5)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Apoa5 (apolipoprotein A-V)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	apoa5	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	apoa5.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	apoa5.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	116,789,367 - 116,792,420 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	11	116,789,367 - 116,792,420 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	116,660,083 - 116,663,136 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	116,165,296 - 116,167,794 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	116,165,296 - 116,167,794	NCBI
Celera	11	113,815,476 - 113,818,526 (-)	NCBI		Celera
Cytogenetic Map	11	q23.3	NCBI
HuRef	11	112,592,079 - 112,595,129 (-)	NCBI		HuRef
CHM1_1	11	116,544,726 - 116,547,776 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	116,803,991 - 116,807,044 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

cerebral infarction (IAGP)

Chromosome 11, Partial Trisomy 11q (IAGP)

coronary artery disease (EXP,IAGP)

Dwarfism (IAGP)

familial apolipoprotein A5 deficiency (IAGP)

familial lipoprotein lipase deficiency (IAGP)

genetic disease (IAGP)

hyperlipoproteinemia type III (EXP)

hyperlipoproteinemia type IV (IAGP)

hyperlipoproteinemia type V (IAGP)

Hyperlipoproteinemias (IAGP)

Hypertriglyceridemia (EXP,IAGP,ISO)

HYPERTRIGLYCERIDEMIA 1 (IAGP)

hypothyroidism (ISO)

intellectual disability (IAGP)

Metabolic Syndrome (IAGP)

nephronophthisis 15 (IAGP)

obesity (IEA)

Pediatric Obesity (EXP)

type 2 diabetes mellitus (IAGP,IEP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

3,3',4,4'-tetrachlorobiphenyl (ISO)

6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime (EXP)

acetamide (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

amiodarone (ISO)

ammonium chloride (ISO)

Aroclor 1254 (ISO)

benzo[a]pyrene (EXP,ISO)

beta-hexachlorocyclohexane (ISO)

beta-naphthoflavone (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

buta-1,3-diene (ISO)

C60 fullerene (ISO)

CGP 52608 (EXP)

clofibrate (ISO)

clozapine (ISO)

cobalt dichloride (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dicrotophos (EXP)

endosulfan (ISO)

epoxiconazole (ISO)

farnesol (EXP)

flutamide (ISO)

folic acid (ISO)

furan (ISO)

genistein (ISO)

gentamycin (ISO)

glycidol (ISO)

graphite (ISO)

GW 4064 (EXP)

GW 7647 (EXP)

hydrazine (ISO)

hydrogen peroxide (EXP)

inulin (ISO)

isoniazide (ISO)

L-methionine (ISO)

menadione (EXP)

metformin (ISO)

N-Nitrosopyrrolidine (EXP)

nefazodone (ISO)

nimesulide (ISO)

O-methyleugenol (EXP)

oleic acid (EXP)

ozone (ISO)

paracetamol (ISO)

perfluorobutanesulfonic acid (ISO)

perfluoroheptanoic acid (EXP)

perfluorohexanesulfonic acid (EXP,ISO)

perfluorohexanoic acid (EXP)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP,ISO)

phenobarbital (ISO)

pirinixic acid (EXP,ISO)

potassium dichromate (ISO)

propiconazole (ISO)

quercetin (EXP)

rotenone (ISO)

silibinin (ISO)

sodium arsenite (EXP)

tert-butyl hydroperoxide (EXP)

Tesaglitazar (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

trichloroethene (ISO)

triptonide (ISO)

troglitazone (ISO)

trovafloxacin (ISO)

urethane (EXP)

valproic acid (EXP)

zidovudine (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

acylglycerol homeostasis (IDA,IEA,IMP)

animal organ regeneration (ISO)

cholesterol efflux (IBA)

cholesterol homeostasis (IBA,IDA)

lipid transport (IDA,IEA,ISO)

lipoprotein metabolic process (IEA)

phospholipid efflux (IBA)

positive regulation of fatty acid biosynthetic process (IBA,IDA)

positive regulation of lipid catabolic process (IDA)

positive regulation of lipoprotein lipase activity (IBA,IDA)

positive regulation of receptor-mediated endocytosis (TAS)

positive regulation of triglyceride catabolic process (IBA,IDA)

positive regulation of very-low-density lipoprotein particle remodeling (IDA)

response to hormone (ISO)

tissue regeneration (IEP)

triglyceride catabolic process (IMP)

triglyceride homeostasis (IBA,IDA,IMP)

triglyceride metabolic process (IDA,IEA,IMP,ISO)

triglyceride-rich lipoprotein particle remodeling (IEA,ISO)

very-low-density lipoprotein particle remodeling (IBA)

Cellular Component

chylomicron (IBA,IDA,IEA)

early endosome (IEA)

endoplasmic reticulum lumen (TAS)

endosome (IEA)

extracellular region (IDA,IEA,TAS)

extracellular space (IDA,ISO)

Golgi apparatus (IEA)

high-density lipoprotein particle (IBA,IDA,IEA)

late endosome (IEA)

low-density lipoprotein particle (IDA)

very-low-density lipoprotein particle (IDA,IEA)

Molecular Function

enzyme activator activity (IDA)

enzyme binding (IDA)

heparin binding (IDA)

lipase activator activity (IMP)

lipase binding (IPI)

lipid binding (IDA,IEA)

lipoprotein lipase activator activity (IDA)

lipoprotein particle receptor binding (IPI)

low-density lipoprotein particle receptor binding (IPI)

phosphatidylcholine binding (IBA,IDA)

phosphatidylcholine-sterol O-acyltransferase activator activity (IBA)

phospholipid binding (IDA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

lipoprotein metabolic pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Atheroeruptive xanthoma (IAGP)

Autosomal dominant inheritance (IAGP)

Decreased HDL cholesterol concentration (IAGP)

Decreased LDL cholesterol concentration (IAGP)

Diabetes mellitus (IAGP)

Glucose intolerance (IAGP)

Hypertriglyceridemia (IAGP)

Hypopituitarism (IAGP)

Increased circulating chylomicron concentration (IAGP)

Increased VLDL cholesterol concentration (IAGP)

Intellectual disability (IAGP)

Precocious atherosclerosis (IAGP)

Short stature (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	The genetic association database.	Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2.	Association of APOA5 -1131T>C and S19W gene polymorphisms with both mild hypertriglyceridemia and hyperchylomicronemia in type 2 diabetic patients.	Charriere S, etal., Clin Chim Acta. 2008 Aug;394(1-2):99-103. Epub 2008 Apr 27.
3.	SINGLE NUCLEOTIDE POLYMORPHISMS THAT INFLUENCE LIPID METABOLISM: Interaction with Dietary Factors.	Corella D and Ordovas JM, Annu Rev Nutr. 2005;25:341-90.
4.	The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides.	Dallongeville J, etal., BMC Med Genet. 2008 Sep 12;9:84.
5.	T-1131-->C polymorphism within the apolipoprotein AV gene in hypertriglyceridemic individuals.	Horinek A, etal., Atherosclerosis. 2003 Apr;167(2):369-70.
6.	Apolipoprotein A5 and hypertriglyceridemia in Prague hypertriglyceridemic rats.	Kadlecova M, etal., Physiol Res. 2006;55(4):373-9. Epub 2005 Oct 17.
7.	APOA5 gene polymorphism modulates levels of triglyceride, HDL cholesterol and FERHDL but is not a risk factor for coronary artery disease.	Lee KW, etal., Atherosclerosis. 2004 Sep;176(1):165-72.
8.	Polymorphism of apolipoprotein A5 is a risk factor for cerebral infarction in type 2 diabetes.	Li X, etal., J Huazhong Univ Sci Technolog Med Sci. 2008 Dec;28(6):653-6. Epub 2008 Dec 24.
9.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
10.	An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing.	Pennacchio LA, etal., Science 2001 Oct 5;294(5540):169-73.
11.	Thyroid hormone regulates the hypotriglyceridemic gene APOA5.	Prieur X, etal., J Biol Chem. 2005 Jul 29;280(30):27533-43. Epub 2005 Jun 7.
12.	Postprandial increase of plasma apoAV concentrations in Type 2 diabetic patients.	Pruneta-Deloche V, etal., Atherosclerosis. 2005 Aug;181(2):403-5. Epub 2005 Feb 17.
13.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
15.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16.	Polymorphism in the promoter region of the apolipoprotein A5 gene is associated with an increased susceptibility for coronary artery disease.	Szalai C, etal., Atherosclerosis. 2004 Mar;173(1):109-14.
17.	Apolipoprotein A-V: a novel apolipoprotein associated with an early phase of liver regeneration.	van der Vliet HN, etal., J Biol Chem 2001 Nov 30;276(48):44512-20.
18.	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.
19.	Association of APOA5 c.553G>T polymorphism with type 2 diabetes mellitus in a Chinese population.	Zhai G, etal., Clin Chem Lab Med. 2006;44(11):1313-6.
20.	[Association of apolipoprotein A5 gene -1131T/C polymorphism with lipid metabolism and insulin resistance in patients with type II diabetes mellitus]	Zhai GH, etal., Yi Chuan. 2007 May;29(5):541-6.

Additional References at PubMed

PMID:12417270	PMID:12417524	PMID:12417525	PMID:12436249	PMID:12477932	PMID:12615678	PMID:12637506	PMID:12671030	PMID:12697303	PMID:12709436	PMID:12747596	PMID:12752569
PMID:12810715	PMID:12899628	PMID:12915450	PMID:12920097	PMID:12937897	PMID:12951359	PMID:12975309	PMID:14613578	PMID:14729863	PMID:14732475	PMID:14959997	PMID:14984471
PMID:15046561	PMID:15108119	PMID:15117734	PMID:15131258	PMID:15135251	PMID:15151505	PMID:15157276	PMID:15178420	PMID:15300628	PMID:15317819	PMID:15342688	PMID:15369751
PMID:15447887	PMID:15489334	PMID:15528295	PMID:15542401	PMID:15591215	PMID:15604515	PMID:15636639	PMID:15649902	PMID:15684402	PMID:15781255	PMID:15790933	PMID:15841042
PMID:15857156	PMID:15877284	PMID:15878877	PMID:15924804	PMID:15941721	PMID:15952115	PMID:15996212	PMID:16006256	PMID:16046221	PMID:16051671	PMID:16054149	PMID:16143024
PMID:16192625	PMID:16258166	PMID:16311097	PMID:16321685	PMID:16325772	PMID:16344560	PMID:16375582	PMID:16386723	PMID:16386743	PMID:16401313	PMID:16410456	PMID:16448983
PMID:16474174	PMID:16510431	PMID:16531747	PMID:16636175	PMID:16670016	PMID:16682041	PMID:16687148	PMID:16710093	PMID:16763159	PMID:16769999	PMID:16777114	PMID:16781717
PMID:16806135	PMID:16806226	PMID:16861622	PMID:16887900	PMID:16917759	PMID:16943456	PMID:16954607	PMID:17032446	PMID:17142127	PMID:17157483	PMID:17183147	PMID:17197160
PMID:17211608	PMID:17222847	PMID:17326667	PMID:17356049	PMID:17378725	PMID:17431185	PMID:17457003	PMID:17460328	PMID:17485571	PMID:17493548	PMID:17495607	PMID:17548323
PMID:17635078	PMID:17693622	PMID:17700364	PMID:17705673	PMID:17717288	PMID:17722232	PMID:17726453	PMID:17766366	PMID:17768309	PMID:17855807	PMID:17922054	PMID:17922432
PMID:17936576	PMID:17957227	PMID:17964293	PMID:17997385	PMID:18056685	PMID:18078817	PMID:18087544	PMID:18159097	PMID:18179892	PMID:18193043	PMID:18193044	PMID:18193158
PMID:18206649	PMID:18263854	PMID:18274205	PMID:18274806	PMID:18302531	PMID:18395529	PMID:18424353	PMID:18441017	PMID:18537870	PMID:18543217	PMID:18549811	PMID:18572192
PMID:18577813	PMID:18579034	PMID:18596051	PMID:18601597	PMID:18601598	PMID:18603531	PMID:18607181	PMID:18635818	PMID:18658049	PMID:18660489	PMID:18678879	PMID:18779834
PMID:18801202	PMID:18946207	PMID:18974842	PMID:19018513	PMID:19034316	PMID:19055447	PMID:19056482	PMID:19056598	PMID:19057464	PMID:19060906	PMID:19060911	PMID:19074352
PMID:19121291	PMID:19141870	PMID:19148283	PMID:19150068	PMID:19159622	PMID:19185284	PMID:19185864	PMID:19187029	PMID:19207029	PMID:19253837	PMID:19336370	PMID:19336475
PMID:19343127	PMID:19344899	PMID:19362162	PMID:19403283	PMID:19410254	PMID:19447388	PMID:19530961	PMID:19534808	PMID:19567162	PMID:19578796	PMID:19592705	PMID:19629056
PMID:19656773	PMID:19665689	PMID:19692219	PMID:19701693	PMID:19732897	PMID:19765959	PMID:19825998	PMID:19828688	PMID:19847674	PMID:19878569	PMID:19910639	PMID:19913121
PMID:19915960	PMID:19932084	PMID:19948975	PMID:20031591	PMID:20047745	PMID:20054229	PMID:20059973	PMID:20134407	PMID:20137539	PMID:20139978	PMID:20160193	PMID:20170397
PMID:20303129	PMID:20304614	PMID:20331378	PMID:20392444	PMID:20395964	PMID:20400780	PMID:20413122	PMID:20429872	PMID:20430392	PMID:20442857	PMID:20452521	PMID:20469899
PMID:20480398	PMID:20490738	PMID:20571505	PMID:20604726	PMID:20628086	PMID:20634891	PMID:20657596	PMID:20674306	PMID:20679960	PMID:20686565	PMID:20688329	PMID:20696075
PMID:20708914	PMID:20714348	PMID:20802161	PMID:20838585	PMID:20855565	PMID:20864672	PMID:20869952	PMID:20883102	PMID:20966404	PMID:21033077	PMID:21054477	PMID:21130994
PMID:21132386	PMID:21143013	PMID:21209257	PMID:21238903	PMID:21287515	PMID:21324458	PMID:21347282	PMID:21375366	PMID:21378990	PMID:21386085	PMID:21423763	PMID:21438666
PMID:21463987	PMID:21473680	PMID:21489765	PMID:21505768	PMID:21518542	PMID:21548985	PMID:21643755	PMID:21646779	PMID:21707471	PMID:21729881	PMID:21854571	PMID:21873635
PMID:21889769	PMID:21909109	PMID:21914952	PMID:21988832	PMID:21993410	PMID:22008704	PMID:22171074	PMID:22239554	PMID:22286219	PMID:22350263	PMID:22359512	PMID:22425169
PMID:22437554	PMID:22517333	PMID:22576629	PMID:22675253	PMID:22688093	PMID:22718631	PMID:22796346	PMID:22809445	PMID:22905904	PMID:22914552	PMID:22914599	PMID:22916037
PMID:22924697	PMID:22955952	PMID:23000161	PMID:23009782	PMID:23065249	PMID:23129316	PMID:23150946	PMID:23248205	PMID:23251661	PMID:23266809	PMID:23307945	PMID:23312054
PMID:23329134	PMID:23415427	PMID:23452379	PMID:23468858	PMID:23479152	PMID:23499587	PMID:23505323	PMID:23509746	PMID:23656756	PMID:23919616	PMID:23957007	PMID:23970179
PMID:24023260	PMID:24097068	PMID:24161374	PMID:24178511	PMID:24386095	PMID:24387992	PMID:24402875	PMID:24462044	PMID:24586566	PMID:24591733	PMID:24618354	PMID:24684850
PMID:24690159	PMID:24694356	PMID:24709297	PMID:24768220	PMID:24775272	PMID:24793350	PMID:24815086	PMID:24816252	PMID:24886709	PMID:24903888	PMID:25034063	PMID:25073959
PMID:25127531	PMID:25263629	PMID:25308402	PMID:25311932	PMID:25313938	PMID:25463085	PMID:25515090	PMID:25770687	PMID:25843152	PMID:25900265	PMID:25938357	PMID:26309253
PMID:26350810	PMID:26365620	PMID:26365669	PMID:26387083	PMID:26397108	PMID:26505382	PMID:26524954	PMID:26634697	PMID:26702748	PMID:26760709	PMID:26782469	PMID:26824674
PMID:27051036	PMID:27053630	PMID:27171122	PMID:27206937	PMID:27350673	PMID:27415775	PMID:27599772	PMID:27613158	PMID:27716220	PMID:27724895	PMID:27813673	PMID:28102463
PMID:28143480	PMID:28371326	PMID:28376804	PMID:28500476	PMID:28534127	PMID:28624160	PMID:28635360	PMID:28730827	PMID:28865324	PMID:28927406	PMID:29211729	PMID:29263402
PMID:29264753	PMID:29310573	PMID:29398535	PMID:29735301	PMID:29758349	PMID:29797594	PMID:29866721	PMID:30024021	PMID:30053818	PMID:30132804	PMID:30139016	PMID:30367981
PMID:30422238	PMID:30472712	PMID:30600310	PMID:30606120	PMID:30890818	PMID:30902391	PMID:30929539	PMID:31165758	PMID:31253212	PMID:31560287	PMID:31619059	PMID:31831525
PMID:31903892	PMID:32296183	PMID:32382544	PMID:32437778	PMID:32561169	PMID:32602585	PMID:32633266	PMID:32725151	PMID:32777089	PMID:33567543	PMID:33753020	PMID:33986338
PMID:34350864	PMID:34422134	PMID:35278410	PMID:35461093	PMID:35644522	PMID:35745158	PMID:35854768	PMID:35886029	PMID:36071387	PMID:36921196

Genomics

Comparative Map Data

APOA5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	116,789,367 - 116,792,420 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	11	116,789,367 - 116,792,420 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	116,660,083 - 116,663,136 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	116,165,296 - 116,167,794 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	116,165,296 - 116,167,794	NCBI
Celera	11	113,815,476 - 113,818,526 (-)	NCBI		Celera
Cytogenetic Map	11	q23.3	NCBI
HuRef	11	112,592,079 - 112,595,129 (-)	NCBI		HuRef
CHM1_1	11	116,544,726 - 116,547,776 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	116,803,991 - 116,807,044 (-)	NCBI		T2T-CHM13v2.0

Apoa5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	46,179,906 - 46,183,219 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	46,179,931 - 46,183,217 (+)	Ensembl		GRCm39 Ensembl
GRCm38	9	46,268,608 - 46,271,921 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	46,268,633 - 46,271,919 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	46,076,691 - 46,080,002 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	46,019,603 - 46,022,914 (+)	NCBI		MGSCv36	mm8
Celera	9	43,557,616 - 43,560,927 (+)	NCBI		Celera
Cytogenetic Map	9	A5.2	NCBI

Apoa5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	8	46,561,180 - 46,563,818 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	46,561,229 - 46,563,816 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	52,062,457 - 52,065,145 (+)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	8	50,341,227 - 50,343,915 (+)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	8	48,205,503 - 48,208,191 (+)	NCBI	Rnor_WKY
Rnor_6.0	8	50,559,079 - 50,561,720 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	50,559,126 - 50,561,736 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	49,185,041 - 49,187,682 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	49,253,538 - 49,255,777 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	49,265,341 - 49,267,579 (+)	NCBI
Celera	8	46,142,946 - 46,145,584 (+)	NCBI		Celera
Cytogenetic Map	8	q22	NCBI

Apoa5
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955412	18,129,603 - 18,131,115 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955412	18,128,861 - 18,131,752 (-)	NCBI	ChiLan1.0	ChiLan1.0

APOA5
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1	11	118,595,365 - 118,597,885 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	111,625,403 - 111,627,932 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	115,559,231 - 115,562,286 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	115,559,231 - 115,562,286 (-)	Ensembl	panpan1.1		panPan2

APOA5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	16,774,117 - 16,777,535 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	16,774,501 - 16,777,768 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	16,826,641 - 16,829,696 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	16,721,181 - 16,724,236 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	16,721,199 - 16,723,685 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	16,858,043 - 16,861,098 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	16,760,620 - 16,763,675 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	16,803,753 - 16,806,810 (+)	NCBI		UU_Cfam_GSD_1.0

Apoa5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	99,147,591 - 99,149,935 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936542	2,069,683 - 2,071,353 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936542	2,069,683 - 2,071,344 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

APOA5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	44,178,606 - 44,180,885 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	44,177,834 - 44,180,880 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	49,251,674 - 49,254,883 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

APOA5
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	108,154,880 - 108,158,998 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	108,155,641 - 108,157,375 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	17,891,675 - 17,894,161 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Apoa5
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624784	12,213,744 - 12,216,026 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624784	12,213,205 - 12,216,039 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in APOA5
153 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys)	single nucleotide variant	Cardiovascular phenotype [RCV002345230]\|Hypertriglyceridemia, familial [RCV001262207]\|not provided [RCV001650829]	Chr11:116790676 [GRCh38] Chr11:116661392 [GRCh37] Chr11:11q23.3	risk factor\|benign\|uncertain significance
NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp)	single nucleotide variant	Cardiovascular phenotype [RCV002345231]\|Familial type 5 hyperlipoproteinemia [RCV002504745]\|Hypertriglyceridemia, familial [RCV000004653]\|not provided [RCV002054414]	Chr11:116791691 [GRCh38] Chr11:116662407 [GRCh37] Chr11:11q23.3	risk factor\|benign
NM_001371904.1(APOA5):c.415C>T (p.Gln139Ter)	single nucleotide variant	Familial type 5 hyperlipoproteinemia [RCV000004654]	Chr11:116790814 [GRCh38] Chr11:116661530 [GRCh37] Chr11:11q23.3	pathogenic
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_052968.4(APOA5):c.-644C>T	single nucleotide variant	atorvastatin response - Efficacy [RCV000660843]\|lovastatin response - Efficacy [RCV000660844]\|simvastatin response - Efficacy [RCV000660845]	Chr11:116792991 [GRCh38] Chr11:116663707 [GRCh37] Chr11:11q23.3	drug response
NM_001371904.1(APOA5):c.*158C>T	single nucleotide variant	Hypertriglyceridemia, familial [RCV000114996]\|not provided [RCV001647125]	Chr11:116789970 [GRCh38] Chr11:116660686 [GRCh37] Chr11:11q23.3	risk factor\|benign
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
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	copy number gain	See cases [RCV000240308]	Chr11:115215434..120559928 [GRCh37] Chr11:11q23.3	pathogenic
NM_001371904.1(APOA5):c.962A>T (p.His321Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002377220]\|not provided [RCV000585917]	Chr11:116790267 [GRCh38] Chr11:116660983 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001371904.1(APOA5):c.696C>G (p.Ser232=)	single nucleotide variant	Cardiovascular phenotype [RCV002367994]\|not provided [RCV000586373]	Chr11:116790533 [GRCh38] Chr11:116661249 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001371904.1(APOA5):c.764A>G (p.Glu255Gly)	single nucleotide variant	not provided [RCV000588059]	Chr11:116790465 [GRCh38] Chr11:116661181 [GRCh37] Chr11:11q23.3	benign
NM_001371904.1(APOA5):c.975C>T (p.Ala325=)	single nucleotide variant	Cardiovascular phenotype [RCV002377221]\|not provided [RCV000588180]	Chr11:116790254 [GRCh38] Chr11:116660970 [GRCh37] Chr11:11q23.3	benign
NM_001371904.1(APOA5):c.457G>A (p.Val153Met)	single nucleotide variant	Cardiovascular phenotype [RCV002341508]\|not provided [RCV000589031]	Chr11:116790772 [GRCh38] Chr11:116661488 [GRCh37] Chr11:11q23.3	benign
NM_001371904.1(APOA5):c.132C>A (p.Ile44=)	single nucleotide variant	Cardiovascular phenotype [RCV002384289]\|not provided [RCV000587343]	Chr11:116791615 [GRCh38] Chr11:116662331 [GRCh37] Chr11:11q23.3	benign
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val)	single nucleotide variant	Cardiovascular phenotype [RCV002448828]\|not provided [RCV000589779]	Chr11:116790285 [GRCh38] Chr11:116661001 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001371904.1(APOA5):c.111C>A (p.Asp37Glu)	single nucleotide variant	Cardiovascular phenotype [RCV002438530]\|not provided [RCV000586242]	Chr11:116791636 [GRCh38] Chr11:116662352 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001371904.1(APOA5):c.118A>G (p.Arg40Gly)	single nucleotide variant	Cardiovascular phenotype [RCV002339064]\|not provided [RCV000439005]	Chr11:116791629 [GRCh38] Chr11:116662345 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)	single nucleotide variant	Cardiovascular phenotype [RCV002436266]\|Familial type 5 hyperlipoproteinemia [RCV002289560]\|Hypertriglyceridemia [RCV001249015]\|Hypertriglyceridemia, familial [RCV000768551]\|not provided [RCV000428946]	Chr11:116790940 [GRCh38] Chr11:116661656 [GRCh37] Chr11:11q23.3	pathogenic
NM_001371904.1(APOA5):c.937C>T (p.Gln313Ter)	single nucleotide variant	not provided [RCV000478434]	Chr11:116790292 [GRCh38] Chr11:116661008 [GRCh37] Chr11:11q23.3	likely 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
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	copy number gain	not provided [RCV000683374]	Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3	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_001371904.1(APOA5):c.*286AG[3]	microsatellite	not provided [RCV001611713]	Chr11:116789838..116789839 [GRCh38] Chr11:116660554..116660555 [GRCh37] Chr11:11q23.3	benign
NM_001371904.1(APOA5):c.168G>A (p.Leu56=)	single nucleotide variant	Cardiovascular phenotype [RCV002414258]\|not provided [RCV001547586]	Chr11:116791061 [GRCh38] Chr11:116661777 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.50-28G>A	single nucleotide variant	not provided [RCV001566261]	Chr11:116791725 [GRCh38] Chr11:116662441 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.*172C>T	single nucleotide variant	not provided [RCV001574293]	Chr11:116789956 [GRCh38] Chr11:116660672 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.945G>A (p.Ala315=)	single nucleotide variant	not provided [RCV000898403]	Chr11:116790284 [GRCh38] Chr11:116661000 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.165C>G (p.Thr55=)	single nucleotide variant	Cardiovascular phenotype [RCV002400116]\|not provided [RCV000960273]	Chr11:116791064 [GRCh38] Chr11:116661780 [GRCh37] Chr11:11q23.3	benign\|likely benign
NM_001371904.1(APOA5):c.50-9dup	duplication	not provided [RCV000908649]	Chr11:116791705..116791706 [GRCh38] Chr11:116662421..116662422 [GRCh37] Chr11:11q23.3	likely benign
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	copy number loss	not provided [RCV000848741]	Chr11:104101411..116680918 [GRCh37] Chr11:11q22.3-23.3	pathogenic
NM_001371904.1(APOA5):c.292GAG[1] (p.Glu99del)	microsatellite	not provided [RCV000845420]	Chr11:116790932..116790934 [GRCh38] Chr11:116661648..116661650 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)	single nucleotide variant	Cardiovascular phenotype [RCV002424992]\|Familial type 5 hyperlipoproteinemia [RCV002246434]\|Familial type 5 hyperlipoproteinemia [RCV002501921]\|Hypertriglyceridemia, familial [RCV003147637]\|not provided [RCV001570903]	Chr11:116790406 [GRCh38] Chr11:116661122 [GRCh37] Chr11:11q23.3	pathogenic\|likely pathogenic
NM_001371904.1(APOA5):c.49+55G>T	single nucleotide variant	not provided [RCV001658519]	Chr11:116791757 [GRCh38] Chr11:116662473 [GRCh37] Chr11:11q23.3	benign
NM_001371904.1(APOA5):c.887T>G (p.Ile296Arg)	single nucleotide variant	not provided [RCV001559811]	Chr11:116790342 [GRCh38] Chr11:116661058 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.648C>T (p.His216=)	single nucleotide variant	Cardiovascular phenotype [RCV002359170]\|not provided [RCV001555584]	Chr11:116790581 [GRCh38] Chr11:116661297 [GRCh37] Chr11:11q23.3	likely 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_001371904.1(APOA5):c.162-43A>G	single nucleotide variant	not provided [RCV001723230]	Chr11:116791110 [GRCh38] Chr11:116661826 [GRCh37] Chr11:11q23.3	benign
NM_001371904.1(APOA5):c.*31C>T	single nucleotide variant	not provided [RCV001717563]	Chr11:116790097 [GRCh38] Chr11:116660813 [GRCh37] Chr11:11q23.3	benign
NM_001371904.1(APOA5):c.-3G>A	single nucleotide variant	not specified [RCV001699893]	Chr11:116791863 [GRCh38] Chr11:116662579 [GRCh37] Chr11:11q23.3	benign
NM_001371904.1(APOA5):c.162-251del	deletion	not provided [RCV001652879]	Chr11:116791318 [GRCh38] Chr11:116662034 [GRCh37] Chr11:11q23.3	benign
Single allele	deletion	Short stature [RCV001003892]	Chr11:114433313..131230466 [GRCh37] Chr11:11q23.2-25	likely pathogenic
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs)	microsatellite	Cardiovascular phenotype [RCV003166584]\|Familial type 5 hyperlipoproteinemia [RCV002246249]\|Hypertriglyceridemia, familial [RCV001836651]\|not provided [RCV001256823]	Chr11:116790236..116790239 [GRCh38] Chr11:116660952..116660955 [GRCh37] Chr11:11q23.3	pathogenic\|likely pathogenic
NM_001371904.1(APOA5):c.494G>C (p.Gly165Ala)	single nucleotide variant	Hyperlipoproteinemia, type I [RCV001256824]	Chr11:116790735 [GRCh38] Chr11:116661451 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.139C>T (p.Gln47Ter)	single nucleotide variant	Familial type 5 hyperlipoproteinemia [RCV001335313]	Chr11:116791608 [GRCh38] Chr11:116662324 [GRCh37] Chr11:11q23.3	pathogenic
NM_001371904.1(APOA5):c.579_592del (p.Tyr194fs)	deletion	Familial type 5 hyperlipoproteinemia [RCV001290185]	Chr11:116790637..116790650 [GRCh38] Chr11:116661353..116661366 [GRCh37] Chr11:11q23.3	pathogenic
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
NM_001371904.1(APOA5):c.761G>T (p.Arg254Leu)	single nucleotide variant	not provided [RCV001358564]	Chr11:116790468 [GRCh38] Chr11:116661184 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg)	single nucleotide variant	not provided [RCV001726630]\|not specified [RCV001699735]	Chr11:116790795 [GRCh38] Chr11:116661511 [GRCh37] Chr11:11q23.3	benign\|likely benign\|uncertain significance
NC_000011.9:g.104288964_134937416dup	duplication	Distal trisomy 11q [RCV001250234]	Chr11:104288964..134937416 [GRCh37] Chr11:11q22.3-25	pathogenic
NM_001371904.1(APOA5):c.551C>G (p.Thr184Ser)	single nucleotide variant	not provided [RCV001756706]\|not specified [RCV002246473]	Chr11:116790678 [GRCh38] Chr11:116661394 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.1028G>A (p.Arg343His)	single nucleotide variant	not specified [RCV002246967]	Chr11:116790201 [GRCh38] Chr11:116660917 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.212T>C (p.Leu71Pro)	single nucleotide variant	not specified [RCV002246970]	Chr11:116791017 [GRCh38] Chr11:116661733 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.749T>C (p.Leu250Pro)	single nucleotide variant	not provided [RCV001768553]	Chr11:116790480 [GRCh38] Chr11:116661196 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.763G>A (p.Glu255Lys)	single nucleotide variant	not provided [RCV001756704]	Chr11:116790466 [GRCh38] Chr11:116661182 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.161+5G>C	single nucleotide variant	not provided [RCV001869793]\|not specified [RCV001817909]	Chr11:116791581 [GRCh38] Chr11:116662297 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.153C>T (p.Arg51=)	single nucleotide variant	not provided [RCV001929555]	Chr11:116791594 [GRCh38] Chr11:116662310 [GRCh37] Chr11:11q23.3	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
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
NM_001371904.1(APOA5):c.659G>T (p.Ser220Ile)	single nucleotide variant	not provided [RCV001916779]	Chr11:116790570 [GRCh38] Chr11:116661286 [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_001371904.1(APOA5):c.905C>T (p.Ala302Val)	single nucleotide variant	not provided [RCV001978965]	Chr11:116790324 [GRCh38] Chr11:116661040 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.111del (p.Asp37fs)	deletion	Inborn genetic diseases [RCV002561387]\|not provided [RCV001936287]	Chr11:116791636 [GRCh38] Chr11:116662352 [GRCh37] Chr11:11q23.3	pathogenic\|uncertain significance
NM_001371904.1(APOA5):c.407T>C (p.Leu136Pro)	single nucleotide variant	not provided [RCV002223371]	Chr11:116790822 [GRCh38] Chr11:116661538 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.770T>C (p.Leu257Pro)	single nucleotide variant	not provided [RCV002223519]	Chr11:116790459 [GRCh38] Chr11:116661175 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.847C>T (p.Gln283Ter)	single nucleotide variant	not provided [RCV002224715]	Chr11:116790382 [GRCh38] Chr11:116661098 [GRCh37] Chr11:11q23.3	likely pathogenic
NM_001371904.1(APOA5):c.888del (p.Ile296fs)	deletion	Cardiovascular phenotype [RCV002443271]\|not provided [RCV002224724]	Chr11:116790341 [GRCh38] Chr11:116661057 [GRCh37] Chr11:11q23.3	pathogenic\|likely pathogenic
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter)	single nucleotide variant	Cardiovascular phenotype [RCV002373051]\|not provided [RCV002224765]	Chr11:116790316 [GRCh38] Chr11:116661032 [GRCh37] Chr11:11q23.3	likely pathogenic
NM_001371904.1(APOA5):c.429C>T (p.Arg143=)	single nucleotide variant	Cardiovascular phenotype [RCV002331692]\|not provided [RCV002188166]	Chr11:116790800 [GRCh38] Chr11:116661516 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.607G>T (p.Gly203Trp)	single nucleotide variant	not specified [RCV002246969]	Chr11:116790622 [GRCh38] Chr11:116661338 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.427del (p.Arg143fs)	deletion	Cardiovascular phenotype [RCV002331847]\|Familial type 5 hyperlipoproteinemia [RCV002290850]\|not provided [RCV002224739]	Chr11:116790802 [GRCh38] Chr11:116661518 [GRCh37] Chr11:11q23.3	pathogenic\|likely pathogenic
NM_001371904.1(APOA5):c.70C>A (p.Arg24=)	single nucleotide variant	Cardiovascular phenotype [RCV002363617]\|not provided [RCV002149427]	Chr11:116791677 [GRCh38] Chr11:116662393 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.834C>G (p.Ser278=)	single nucleotide variant	Cardiovascular phenotype [RCV002441264]\|not provided [RCV002170387]	Chr11:116790395 [GRCh38] Chr11:116661111 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.49+10C>T	single nucleotide variant	not provided [RCV002150099]	Chr11:116791802 [GRCh38] Chr11:116662518 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.618G>T (p.Val206=)	single nucleotide variant	not provided [RCV002160093]	Chr11:116790611 [GRCh38] Chr11:116661327 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.865C>T (p.Arg289Cys)	single nucleotide variant	not specified [RCV002246968]	Chr11:116790364 [GRCh38] Chr11:116661080 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.940C>T (p.Leu314=)	single nucleotide variant	not provided [RCV002121846]	Chr11:116790289 [GRCh38] Chr11:116661005 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.161+19G>A	single nucleotide variant	not provided [RCV002143290]	Chr11:116791567 [GRCh38] Chr11:116662283 [GRCh37] Chr11:11q23.3	likely 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
NM_001371904.1(APOA5):c.578C>T (p.Pro193Leu)	single nucleotide variant	not provided [RCV003115152]	Chr11:116790651 [GRCh38] Chr11:116661367 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.1039C>A (p.Leu347Met)	single nucleotide variant	not specified [RCV002246966]	Chr11:116790190 [GRCh38] Chr11:116660906 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.875C>T (p.Thr292Ile)	single nucleotide variant	not provided [RCV002274653]	Chr11:116790354 [GRCh38] Chr11:116661070 [GRCh37] Chr11:11q23.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_001371904.1(APOA5):c.663C>T (p.Pro221=)	single nucleotide variant	Cardiovascular phenotype [RCV002366783]	Chr11:116790566 [GRCh38] Chr11:116661282 [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_001371904.1(APOA5):c.740A>G (p.Gln247Arg)	single nucleotide variant	Cardiovascular phenotype [RCV002384913]	Chr11:116790489 [GRCh38] Chr11:116661205 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.121G>A (p.Val41Met)	single nucleotide variant	Cardiovascular phenotype [RCV002368837]	Chr11:116791626 [GRCh38] Chr11:116662342 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.272G>A (p.Gly91Asp)	single nucleotide variant	Cardiovascular phenotype [RCV002453232]	Chr11:116790957 [GRCh38] Chr11:116661673 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.666G>T (p.Ala222=)	single nucleotide variant	Cardiovascular phenotype [RCV002366956]	Chr11:116790563 [GRCh38] Chr11:116661279 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.815C>T (p.Pro272Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002421416]	Chr11:116790414 [GRCh38] Chr11:116661130 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.554G>A (p.Gly185Asp)	single nucleotide variant	Cardiovascular phenotype [RCV002351925]	Chr11:116790675 [GRCh38] Chr11:116661391 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.627G>T (p.Leu209=)	single nucleotide variant	Cardiovascular phenotype [RCV002368688]	Chr11:116790602 [GRCh38] Chr11:116661318 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.286C>T (p.Leu96=)	single nucleotide variant	Cardiovascular phenotype [RCV002437662]	Chr11:116790943 [GRCh38] Chr11:116661659 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.636T>C (p.Ser212=)	single nucleotide variant	Cardiovascular phenotype [RCV002369087]\|not provided [RCV003098222]	Chr11:116790593 [GRCh38] Chr11:116661309 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.571T>A (p.Phe191Ile)	single nucleotide variant	Cardiovascular phenotype [RCV002347682]	Chr11:116790658 [GRCh38] Chr11:116661374 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.791C>A (p.Thr264Asn)	single nucleotide variant	Cardiovascular phenotype [RCV002416716]	Chr11:116790438 [GRCh38] Chr11:116661154 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg)	single nucleotide variant	Familial type 5 hyperlipoproteinemia [RCV002468470]	Chr11:116790148 [GRCh38] Chr11:116660864 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.693C>G (p.Leu231=)	single nucleotide variant	Cardiovascular phenotype [RCV002378134]	Chr11:116790536 [GRCh38] Chr11:116661252 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.1044G>A (p.Trp348Ter)	single nucleotide variant	Cardiovascular phenotype [RCV002392581]\|not provided [RCV003096916]	Chr11:116790185 [GRCh38] Chr11:116660901 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.615C>G (p.His205Gln)	single nucleotide variant	Cardiovascular phenotype [RCV002353633]	Chr11:116790614 [GRCh38] Chr11:116661330 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.249T>C (p.Pro83=)	single nucleotide variant	Cardiovascular phenotype [RCV002431062]	Chr11:116790980 [GRCh38] Chr11:116661696 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.696C>A (p.Ser232=)	single nucleotide variant	Cardiovascular phenotype [RCV002362505]	Chr11:116790533 [GRCh38] Chr11:116661249 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.595G>A (p.Val199Met)	single nucleotide variant	Cardiovascular phenotype [RCV002356034]	Chr11:116790634 [GRCh38] Chr11:116661350 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.57G>C (p.Ser19=)	single nucleotide variant	Cardiovascular phenotype [RCV002359871]	Chr11:116791690 [GRCh38] Chr11:116662406 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.872A>T (p.Asp291Val)	single nucleotide variant	Cardiovascular phenotype [RCV002373493]	Chr11:116790357 [GRCh38] Chr11:116661073 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.874A>C (p.Thr292Pro)	single nucleotide variant	Cardiovascular phenotype [RCV002373538]	Chr11:116790355 [GRCh38] Chr11:116661071 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.333G>A (p.Met111Ile)	single nucleotide variant	Cardiovascular phenotype [RCV002326576]	Chr11:116790896 [GRCh38] Chr11:116661612 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.757C>T (p.Leu253=)	single nucleotide variant	Cardiovascular phenotype [RCV002394108]	Chr11:116790472 [GRCh38] Chr11:116661188 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.464G>A (p.Gly155Glu)	single nucleotide variant	Cardiovascular phenotype [RCV002330449]	Chr11:116790765 [GRCh38] Chr11:116661481 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.750G>A (p.Leu250=)	single nucleotide variant	Cardiovascular phenotype [RCV002393760]	Chr11:116790479 [GRCh38] Chr11:116661195 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.707C>A (p.Thr236Lys)	single nucleotide variant	Cardiovascular phenotype [RCV002365126]	Chr11:116790522 [GRCh38] Chr11:116661238 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.879C>T (p.Tyr293=)	single nucleotide variant	Cardiovascular phenotype [RCV002449779]	Chr11:116790350 [GRCh38] Chr11:116661066 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.317G>A (p.Arg106His)	single nucleotide variant	Cardiovascular phenotype [RCV002322726]	Chr11:116790912 [GRCh38] Chr11:116661628 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.342G>A (p.Ala114=)	single nucleotide variant	Cardiovascular phenotype [RCV002457020]\|not provided [RCV003102375]	Chr11:116790887 [GRCh38] Chr11:116661603 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.820C>A (p.Pro274Thr)	single nucleotide variant	Cardiovascular phenotype [RCV002427960]	Chr11:116790409 [GRCh38] Chr11:116661125 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.611G>A (p.Arg204His)	single nucleotide variant	Cardiovascular phenotype [RCV002360273]	Chr11:116790618 [GRCh38] Chr11:116661334 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.1035T>C (p.Asp345=)	single nucleotide variant	Cardiovascular phenotype [RCV002392087]	Chr11:116790194 [GRCh38] Chr11:116660910 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.949C>G (p.Pro317Ala)	single nucleotide variant	Cardiovascular phenotype [RCV002374098]\|not provided [RCV003103588]	Chr11:116790280 [GRCh38] Chr11:116660996 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.466G>T (p.Glu156Ter)	single nucleotide variant	Cardiovascular phenotype [RCV002335151]	Chr11:116790763 [GRCh38] Chr11:116661479 [GRCh37] Chr11:11q23.3	likely pathogenic
NM_001371904.1(APOA5):c.85G>A (p.Asp29Asn)	single nucleotide variant	Cardiovascular phenotype [RCV002447987]\|not provided [RCV003103518]	Chr11:116791662 [GRCh38] Chr11:116662378 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.901C>G (p.Arg301Gly)	single nucleotide variant	Cardiovascular phenotype [RCV002376418]	Chr11:116790328 [GRCh38] Chr11:116661044 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.161+3G>A	single nucleotide variant	Cardiovascular phenotype [RCV002394823]	Chr11:116791583 [GRCh38] Chr11:116662299 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.196A>G (p.Asn66Asp)	single nucleotide variant	Cardiovascular phenotype [RCV002423451]	Chr11:116791033 [GRCh38] Chr11:116661749 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.313G>T (p.Ala105Ser)	single nucleotide variant	not provided [RCV002300723]	Chr11:116790916 [GRCh38] Chr11:116661632 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.494dup (p.Val166fs)	duplication	Cardiovascular phenotype [RCV002342720]\|not provided [RCV003120927]	Chr11:116790734..116790735 [GRCh38] Chr11:116661450..116661451 [GRCh37] Chr11:11q23.3	likely pathogenic\|uncertain significance
NM_001371904.1(APOA5):c.660C>T (p.Ser220=)	single nucleotide variant	Cardiovascular phenotype [RCV002375858]	Chr11:116790569 [GRCh38] Chr11:116661285 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.569T>C (p.Leu190Pro)	single nucleotide variant	Cardiovascular phenotype [RCV002347537]	Chr11:116790660 [GRCh38] Chr11:116661376 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.459G>C (p.Val153=)	single nucleotide variant	Cardiovascular phenotype [RCV002342342]	Chr11:116790770 [GRCh38] Chr11:116661486 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.606C>T (p.Ile202=)	single nucleotide variant	Cardiovascular phenotype [RCV002358364]\|not provided [RCV003098121]	Chr11:116790623 [GRCh38] Chr11:116661339 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.758T>C (p.Leu253Pro)	single nucleotide variant	Cardiovascular phenotype [RCV002394156]	Chr11:116790471 [GRCh38] Chr11:116661187 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.696C>T (p.Ser232=)	single nucleotide variant	Cardiovascular phenotype [RCV002362515]	Chr11:116790533 [GRCh38] Chr11:116661249 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.294G>C (p.Glu98Asp)	single nucleotide variant	Cardiovascular phenotype [RCV002441857]	Chr11:116790935 [GRCh38] Chr11:116661651 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.281G>A (p.Arg94Gln)	single nucleotide variant	Cardiovascular phenotype [RCV002441804]	Chr11:116790948 [GRCh38] Chr11:116661664 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.56C>T (p.Ser19Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002347556]\|not provided [RCV003103218]	Chr11:116791691 [GRCh38] Chr11:116662407 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.267G>A (p.Pro89=)	single nucleotide variant	Cardiovascular phenotype [RCV002428895]	Chr11:116790962 [GRCh38] Chr11:116661678 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.141G>T (p.Gln47His)	single nucleotide variant	Cardiovascular phenotype [RCV002391795]\|not provided [RCV003095130]	Chr11:116791606 [GRCh38] Chr11:116662322 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.597G>A (p.Val199=)	single nucleotide variant	Cardiovascular phenotype [RCV002356133]\|not provided [RCV003098085]	Chr11:116790632 [GRCh38] Chr11:116661348 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.1024G>A (p.Ala342Thr)	single nucleotide variant	Cardiovascular phenotype [RCV002380580]	Chr11:116790205 [GRCh38] Chr11:116660921 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.168G>C (p.Leu56=)	single nucleotide variant	Cardiovascular phenotype [RCV002414625]	Chr11:116791061 [GRCh38] Chr11:116661777 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.465G>A (p.Gly155=)	single nucleotide variant	Cardiovascular phenotype [RCV002330484]	Chr11:116790764 [GRCh38] Chr11:116661480 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter)	single nucleotide variant	Cardiovascular phenotype [RCV002403354]	Chr11:116791593 [GRCh38] Chr11:116662309 [GRCh37] Chr11:11q23.3	likely pathogenic
NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter)	single nucleotide variant	Cardiovascular phenotype [RCV002409701]	Chr11:116790454 [GRCh38] Chr11:116661170 [GRCh37] Chr11:11q23.3	likely pathogenic
NM_001371904.1(APOA5):c.765A>G (p.Glu255=)	single nucleotide variant	Cardiovascular phenotype [RCV002396418]	Chr11:116790464 [GRCh38] Chr11:116661180 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.162-5T>A	single nucleotide variant	not provided [RCV002858172]	Chr11:116791072 [GRCh38] Chr11:116661788 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.280C>T (p.Arg94Trp)	single nucleotide variant	not provided [RCV002508642]	Chr11:116790949 [GRCh38] Chr11:116661665 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.386T>C (p.Leu129Pro)	single nucleotide variant	not provided [RCV002818996]	Chr11:116790843 [GRCh38] Chr11:116661559 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.648C>A (p.His216Gln)	single nucleotide variant	not provided [RCV002640006]	Chr11:116790581 [GRCh38] Chr11:116661297 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.471C>T (p.Asp157=)	single nucleotide variant	not provided [RCV002740005]	Chr11:116790758 [GRCh38] Chr11:116661474 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.162-8T>G	single nucleotide variant	not provided [RCV002979111]	Chr11:116791075 [GRCh38] Chr11:116661791 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.119G>T (p.Arg40Met)	single nucleotide variant	not provided [RCV002909711]	Chr11:116791628 [GRCh38] Chr11:116662344 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.295G>A (p.Glu99Lys)	single nucleotide variant	Inborn genetic diseases [RCV003170782]\|not provided [RCV002979212]	Chr11:116790934 [GRCh38] Chr11:116661650 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.815C>A (p.Pro272Gln)	single nucleotide variant	not provided [RCV003037431]	Chr11:116790414 [GRCh38] Chr11:116661130 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.703C>T (p.Leu235Phe)	single nucleotide variant	Inborn genetic diseases [RCV002768446]	Chr11:116790526 [GRCh38] Chr11:116661242 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.565G>A (p.Glu189Lys)	single nucleotide variant	Inborn genetic diseases [RCV002930239]	Chr11:116790664 [GRCh38] Chr11:116661380 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.644C>T (p.Pro215Leu)	single nucleotide variant	not provided [RCV003058353]	Chr11:116790585 [GRCh38] Chr11:116661301 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.327dup (p.Tyr110fs)	duplication	not provided [RCV003058354]	Chr11:116790901..116790902 [GRCh38] Chr11:116661617..116661618 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.152G>C (p.Arg51Pro)	single nucleotide variant	Inborn genetic diseases [RCV002830338]	Chr11:116791595 [GRCh38] Chr11:116662311 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.973G>A (p.Ala325Thr)	single nucleotide variant	not provided [RCV002626069]	Chr11:116790256 [GRCh38] Chr11:116660972 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.49+5G>A	single nucleotide variant	not provided [RCV002711495]	Chr11:116791807 [GRCh38] Chr11:116662523 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.556C>A (p.Arg186Ser)	single nucleotide variant	not provided [RCV003042933]	Chr11:116790673 [GRCh38] Chr11:116661389 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.979G>C (p.Glu327Gln)	single nucleotide variant	not provided [RCV002650315]	Chr11:116790250 [GRCh38] Chr11:116660966 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.733C>T (p.Arg245Cys)	single nucleotide variant	not provided [RCV003062457]	Chr11:116790496 [GRCh38] Chr11:116661212 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.518T>C (p.Leu173Pro)	single nucleotide variant	not provided [RCV003062458]	Chr11:116790711 [GRCh38] Chr11:116661427 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.77G>C (p.Gly26Ala)	single nucleotide variant	Inborn genetic diseases [RCV002854786]	Chr11:116791670 [GRCh38] Chr11:116662386 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.730G>T (p.Ala244Ser)	single nucleotide variant	Inborn genetic diseases [RCV002632297]\|not provided [RCV002632296]	Chr11:116790499 [GRCh38] Chr11:116661215 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.161+14G>C	single nucleotide variant	not provided [RCV002604556]	Chr11:116791572 [GRCh38] Chr11:116662288 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.548A>T (p.His183Leu)	single nucleotide variant	Cardiovascular phenotype [RCV003177591]	Chr11:116790681 [GRCh38] Chr11:116661397 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.210C>T (p.Phe70=)	single nucleotide variant	Cardiovascular phenotype [RCV003177593]	Chr11:116791019 [GRCh38] Chr11:116661735 [GRCh37] Chr11:11q23.3	likely benign
NM_001371904.1(APOA5):c.122T>C (p.Val41Ala)	single nucleotide variant	Cardiovascular phenotype [RCV003177594]	Chr11:116791625 [GRCh38] Chr11:116662341 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.902G>A (p.Arg301His)	single nucleotide variant	Cardiovascular phenotype [RCV003177595]	Chr11:116790327 [GRCh38] Chr11:116661043 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.919A>G (p.Thr307Ala)	single nucleotide variant	Cardiovascular phenotype [RCV003177596]	Chr11:116790310 [GRCh38] Chr11:116661026 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.333G>T (p.Met111Ile)	single nucleotide variant	Cardiovascular phenotype [RCV003177592]	Chr11:116790896 [GRCh38] Chr11:116661612 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.117_120del (p.Arg40fs)	deletion	Familial type 5 hyperlipoproteinemia [RCV003134709]	Chr11:116791627..116791630 [GRCh38] Chr11:116662343..116662346 [GRCh37] Chr11:11q23.3	likely pathogenic
NM_001371904.1(APOA5):c.332T>A (p.Met111Lys)	single nucleotide variant	Cardiovascular phenotype [RCV003177589]	Chr11:116790897 [GRCh38] Chr11:116661613 [GRCh37] Chr11:11q23.3	uncertain significance
NM_001371904.1(APOA5):c.495C>A (p.Gly165=)	single nucleotide variant	Cardiovascular phenotype [RCV003177590]	Chr11:116790734 [GRCh38] Chr11:116661450 [GRCh37] Chr11:11q23.3	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1161
Count of miRNA genes:	542
Interacting mature miRNAs:	601
Transcripts:	ENST00000227665, ENST00000433069, ENST00000542499
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.

Markers in Region

ECD02845

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,662,174 - 116,662,989	UniSTS	GRCh37
Build 36	11	116,167,384 - 116,168,199	RGD	NCBI36
Celera	11	113,817,564 - 113,818,379	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,594,167 - 112,594,982	UniSTS

ECD03275

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,663,046 - 116,663,846	UniSTS	GRCh37
Build 36	11	116,168,256 - 116,169,056	RGD	NCBI36
Celera	11	113,818,436 - 113,819,236	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,595,039 - 112,595,839	UniSTS

ECD03778

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,660,426 - 116,661,210	UniSTS	GRCh37
Build 36	11	116,165,636 - 116,166,420	RGD	NCBI36
Celera	11	113,815,816 - 113,816,600	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,592,419 - 112,593,203	UniSTS

ECD03802

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,659,611 - 116,660,394	UniSTS	GRCh37
Build 36	11	116,164,821 - 116,165,604	RGD	NCBI36
Celera	11	113,815,001 - 113,815,784	RGD
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
HuRef	11	112,591,604 - 112,592,387	UniSTS

ECD06759

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,661,415 - 116,662,115	UniSTS	GRCh37
Build 36	11	116,166,625 - 116,167,325	RGD	NCBI36
Celera	11	113,816,805 - 113,817,505	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,593,408 - 112,594,108	UniSTS

REN73090

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,664,775 - 116,665,044	UniSTS	GRCh37
Build 36	11	116,169,985 - 116,170,254	RGD	NCBI36
Celera	11	113,820,165 - 113,820,434	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,596,768 - 112,597,037	UniSTS

REN73091

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,664,566 - 116,664,790	UniSTS	GRCh37
Build 36	11	116,169,776 - 116,170,000	RGD	NCBI36
Celera	11	113,819,956 - 113,820,180	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,596,559 - 112,596,783	UniSTS

REN73092

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,664,281 - 116,664,541	UniSTS	GRCh37
Build 36	11	116,169,491 - 116,169,751	RGD	NCBI36
Celera	11	113,819,671 - 113,819,931	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,596,274 - 112,596,534	UniSTS

REN73093

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,664,055 - 116,664,293	UniSTS	GRCh37
Build 36	11	116,169,265 - 116,169,503	RGD	NCBI36
Celera	11	113,819,445 - 113,819,683	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,596,048 - 112,596,286	UniSTS

REN73094

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,663,780 - 116,664,024	UniSTS	GRCh37
Build 36	11	116,168,990 - 116,169,234	RGD	NCBI36
Celera	11	113,819,170 - 113,819,414	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,595,773 - 112,596,017	UniSTS

REN73095

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,663,562 - 116,663,796	UniSTS	GRCh37
Build 36	11	116,168,772 - 116,169,006	RGD	NCBI36
Celera	11	113,818,952 - 113,819,186	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,595,555 - 112,595,789	UniSTS

REN73096

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,663,304 - 116,663,547	UniSTS	GRCh37
Build 36	11	116,168,514 - 116,168,757	RGD	NCBI36
Celera	11	113,818,694 - 113,818,937	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,595,297 - 112,595,540	UniSTS

REN73097

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,663,049 - 116,663,315	UniSTS	GRCh37
Build 36	11	116,168,259 - 116,168,525	RGD	NCBI36
Celera	11	113,818,439 - 113,818,705	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,595,042 - 112,595,308	UniSTS

REN73098

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,662,828 - 116,663,065	UniSTS	GRCh37
Build 36	11	116,168,038 - 116,168,275	RGD	NCBI36
Celera	11	113,818,218 - 113,818,455	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,594,821 - 112,595,058	UniSTS

REN73099

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,662,580 - 116,662,824	UniSTS	GRCh37
Build 36	11	116,167,790 - 116,168,034	RGD	NCBI36
Celera	11	113,817,970 - 113,818,214	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,594,573 - 112,594,817	UniSTS

REN73100

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,662,368 - 116,662,597	UniSTS	GRCh37
Build 36	11	116,167,578 - 116,167,807	RGD	NCBI36
Celera	11	113,817,758 - 113,817,987	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,594,361 - 112,594,590	UniSTS

REN73101

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,662,129 - 116,662,355	UniSTS	GRCh37
Build 36	11	116,167,339 - 116,167,565	RGD	NCBI36
Celera	11	113,817,519 - 113,817,745	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,594,122 - 112,594,348	UniSTS

REN73102

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,661,879 - 116,662,117	UniSTS	GRCh37
Build 36	11	116,167,089 - 116,167,327	RGD	NCBI36
Celera	11	113,817,269 - 113,817,507	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,593,872 - 112,594,110	UniSTS

REN73103

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,661,636 - 116,661,890	UniSTS	GRCh37
Build 36	11	116,166,846 - 116,167,100	RGD	NCBI36
Celera	11	113,817,026 - 113,817,280	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,593,629 - 112,593,883	UniSTS

REN73104

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,661,415 - 116,661,652	UniSTS	GRCh37
Build 36	11	116,166,625 - 116,166,862	RGD	NCBI36
Celera	11	113,816,805 - 113,817,042	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,593,408 - 112,593,645	UniSTS

REN73105

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,661,185 - 116,661,434	UniSTS	GRCh37
Build 36	11	116,166,395 - 116,166,644	RGD	NCBI36
Celera	11	113,816,575 - 113,816,824	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,593,178 - 112,593,427	UniSTS

REN73106

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,660,935 - 116,661,159	UniSTS	GRCh37
Build 36	11	116,166,145 - 116,166,369	RGD	NCBI36
Celera	11	113,816,325 - 113,816,549	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,592,928 - 112,593,152	UniSTS

REN73107

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,660,679 - 116,660,911	UniSTS	GRCh37
Build 36	11	116,165,889 - 116,166,121	RGD	NCBI36
Celera	11	113,816,069 - 113,816,301	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,592,672 - 112,592,904	UniSTS

REN73108

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,660,457 - 116,660,691	UniSTS	GRCh37
Build 36	11	116,165,667 - 116,165,901	RGD	NCBI36
Celera	11	113,815,847 - 113,816,081	RGD
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
HuRef	11	112,592,450 - 112,592,684	UniSTS

REN73109

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,660,212 - 116,660,441	UniSTS	GRCh37
Build 36	11	116,165,422 - 116,165,651	RGD	NCBI36
Celera	11	113,815,602 - 113,815,831	RGD
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
HuRef	11	112,592,205 - 112,592,434	UniSTS

REN73110

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,659,964 - 116,660,197	UniSTS	GRCh37
Build 36	11	116,165,174 - 116,165,407	RGD	NCBI36
Celera	11	113,815,354 - 113,815,587	RGD
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
HuRef	11	112,591,957 - 112,592,190	UniSTS

REN73111

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,659,716 - 116,659,965	UniSTS	GRCh37
Build 36	11	116,164,926 - 116,165,175	RGD	NCBI36
Celera	11	113,815,106 - 113,815,355	RGD
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
HuRef	11	112,591,709 - 112,591,958	UniSTS

stSG601776

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,660,205 - 116,661,649	UniSTS	GRCh37
Build 36	11	116,165,415 - 116,166,859	RGD	NCBI36
Celera	11	113,815,595 - 113,817,039	RGD
Cytogenetic Map	11	q23	UniSTS
HuRef	11	112,592,198 - 112,593,642	UniSTS

stSG601777

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,661,762 - 116,662,989	UniSTS	GRCh37
Build 36	11	116,166,972 - 116,168,199	RGD	NCBI36
Celera	11	113,817,152 - 113,818,379	RGD
HuRef	11	112,593,755 - 112,594,982	UniSTS

stSG601778

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	116,662,983 - 116,664,038	UniSTS	GRCh37
Build 36	11	116,168,193 - 116,169,248	RGD	NCBI36
Celera	11	113,818,373 - 113,819,428	RGD
HuRef	11	112,594,976 - 112,596,031	UniSTS

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
High			7	7		7
Medium		2	404	404	3	404						1		2
Low	80	44	39	26	74	25	36	17	7	3	349	41	1	20	17
Below cutoff	1476	1615	795	81	608	8	2095	1009	1760	62	542	951	73	595	1357

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_015894	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001166598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001371904	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_052968	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF202889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF202890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP006216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX061634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX704795	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358749	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY422949	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY555191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101789	(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
	DA641693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB184692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF444949	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KJ401315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000227665 ⟹ ENSP00000227665

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	116,789,367 - 116,791,879 (-)	Ensembl

RefSeq Acc Id:

ENST00000433069 ⟹ ENSP00000399701

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	116,789,913 - 116,792,391 (-)	Ensembl

RefSeq Acc Id:

ENST00000542499 ⟹ ENSP00000445002

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	116,789,373 - 116,792,420 (-)	Ensembl

RefSeq Acc Id:

ENST00000673688 ⟹ ENSP00000501141

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	116,790,077 - 116,791,871 (-)	Ensembl

RefSeq Acc Id:

NM_001166598 ⟹ NP_001160070

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	116,789,367 - 116,792,420 (-)	NCBI
GRCh37	11	116,660,086 - 116,663,136 (-)	ENTREZGENE
HuRef	11	112,592,079 - 112,595,129 (-)	ENTREZGENE
CHM1_1	11	116,544,726 - 116,547,776 (-)	NCBI
T2T-CHM13v2.0	11	116,803,991 - 116,807,044 (-)	NCBI

Sequence:

show sequence

ATAAAGCAGAATGTCTGCTCTCTGTGCCCAGACGTGAGCAGAGCAGGTAATGGCAAGCATGGCT
GCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTTCGGCCACCCAGGCACGGAAAGGCT
TCTGGGACTACTTCAGCCAGACCAGCGGGGACAAAGGCAGGGTGGAGCAGATCCATCAGCAGAA
GATGGCTCGCGAGCCCGCGACCCTGAAAGACAGCCTTGAGCAAGACCTCAACAATATGAACAAG
TTCCTGGAAAAGCTGAGGCCTCTGAGTGGGAGCGAGGCTCCTCGGCTCCCACAGGACCCGGTGG
GCATGCGGCGGCAGCTGCAGGAGGAGTTGGAGGAGGTGAAGGCTCGCCTCCAGCCCTACATGGC
AGAGGCGCACGAGCTGGTGGGCTGGAATTTGGAGGGCTTGCGGCAGCAACTGAAGCCCTACACG
ATGGATCTGATGGAGCAGGTGGCCCTGCGCGTGCAGGAGCTGCAGGAGCAGTTGCGCGTGGTGG
GGGAAGACACCAAGGCCCAGTTGCTGGGGGGCGTGGACGAGGCTTGGGCTTTGCTGCAGGGACT
GCAGAGCCGCGTGGTGCACCACACCGGCCGCTTCAAAGAGCTCTTCCACCCATACGCCGAGAGC
CTGGTGAGCGGCATCGGGCGCCACGTGCAGGAGCTGCACCGCAGTGTGGCTCCGCACGCCCCCG
CCAGCCCCGCGCGCCTCAGTCGCTGCGTGCAGGTGCTCTCCCGGAAGCTCACGCTCAAGGCCAA
GGCCCTGCACGCACGCATCCAGCAGAACCTGGACCAGCTGCGCGAAGAGCTCAGCAGAGCCTTT
GCAGGCACTGGGACTGAGGAAGGGGCCGGCCCGGACCCCCAGATGCTCTCCGAGGAGGTGCGCC
AGCGACTTCAGGCTTTCCGCCAGGACACCTACCTGCAGATAGCTGCCTTCACTCGCGCCATCGA
CCAGGAGACTGAGGAGGTCCAGCAGCAGCTGGCGCCACCTCCACCAGGCCACAGTGCCTTCGCC
CCAGAGTTTCAACAAACAGACAGTGGCAAGGTTCTGAGCAAGCTGCAGGCCCGTCTGGATGACC
TGTGGGAAGACATCACTCACAGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGG
ATCTACCTGCCCAGGCCCATTCCCAGCTCCTTGTCTGGGGAGCCTTGGCTCTGAGCCTCTAGCA
TGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGG
CCACCAAAGGGGCTGCTGTCTCCTGCACATCCAGCCTCCTGCGACTCCCCAATCTGGATGCATT
ACATTCACCAGGCTTTGCAAACCCAGCCTCCCAGTGCTCATTTGGGAATGCTCATGAGTTACTC
CATTCAAGGGTGAGGGAGTAGGGAGGGAGAGGCACCATGCATGTGGGTGATTATCTGCAAGCCT
GTTTGCCGTGATGCTGGAAGCCTGTGCCACTACATCCTGGAGTTTGGCTCTAGTCACTTCTGGC
TGCCTGGTGGCCACTGCTACAGCTGGTCCACAGAGAGGAGCACTTGTCTCCCCAGGGCTGCCAT
GGCAGCTATCAGGGGAATAGAAGGGAGAAAGAGAATATCATGGGGAGAACATGTGATGGTGTGT
GAATATCCCTGCTGGCTCTGATGCTGGTGGGTACGAAAGGTGTGGGCTGTGATAGGAGAGGGCA
GAGCCCATGTTTCCTGACATAGCTCTACACCTAAATAAGGGACTGAACCCTCCCAACTGTGGGA
GCTCCTTAAACCCTCTGGGGAGCATACTGTGTGCTCTCCCCATCTCCAGCCCCTCCCTCTGGGT
TCCCAAGTTGAAGCCTAGACTTCTGGCTCAAATGAAATAGATGTTTATGATAGAA

hide sequence

RefSeq Acc Id:

NM_001371904 ⟹ NP_001358833

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	116,789,367 - 116,791,879 (-)	NCBI
T2T-CHM13v2.0	11	116,803,991 - 116,806,503 (-)	NCBI

Sequence:

show sequence

TGTCTTCTCAGAGCAGGTAATGGCAAGCATGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTT
TCAGCGTTTTCGGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGG
ACAAAGGCAGGGTGGAGCAGATCCATCAGCAGAAGATGGCTCGCGAGCCCGCGACCCTGAAAGA
CAGCCTTGAGCAAGACCTCAACAATATGAACAAGTTCCTGGAAAAGCTGAGGCCTCTGAGTGGG
AGCGAGGCTCCTCGGCTCCCACAGGACCCGGTGGGCATGCGGCGGCAGCTGCAGGAGGAGTTGG
AGGAGGTGAAGGCTCGCCTCCAGCCCTACATGGCAGAGGCGCACGAGCTGGTGGGCTGGAATTT
GGAGGGCTTGCGGCAGCAACTGAAGCCCTACACGATGGATCTGATGGAGCAGGTGGCCCTGCGC
GTGCAGGAGCTGCAGGAGCAGTTGCGCGTGGTGGGGGAAGACACCAAGGCCCAGTTGCTGGGGG
GCGTGGACGAGGCTTGGGCTTTGCTGCAGGGACTGCAGAGCCGCGTGGTGCACCACACCGGCCG
CTTCAAAGAGCTCTTCCACCCATACGCCGAGAGCCTGGTGAGCGGCATCGGGCGCCACGTGCAG
GAGCTGCACCGCAGTGTGGCTCCGCACGCCCCCGCCAGCCCCGCGCGCCTCAGTCGCTGCGTGC
AGGTGCTCTCCCGGAAGCTCACGCTCAAGGCCAAGGCCCTGCACGCACGCATCCAGCAGAACCT
GGACCAGCTGCGCGAAGAGCTCAGCAGAGCCTTTGCAGGCACTGGGACTGAGGAAGGGGCCGGC
CCGGACCCCCAGATGCTCTCCGAGGAGGTGCGCCAGCGACTTCAGGCTTTCCGCCAGGACACCT
ACCTGCAGATAGCTGCCTTCACTCGCGCCATCGACCAGGAGACTGAGGAGGTCCAGCAGCAGCT
GGCGCCACCTCCACCAGGCCACAGTGCCTTCGCCCCAGAGTTTCAACAAACAGACAGTGGCAAG
GTTCTGAGCAAGCTGCAGGCCCGTCTGGATGACCTGTGGGAAGACATCACTCACAGCCTTCATG
ACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCATTCCCAGCTCC
TTGTCTGGGGAGCCTTGGCTCTGAGCCTCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGG
TGGAGGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCACAT
CCAGCCTCCTGCGACTCCCCAATCTGGATGCATTACATTCACCAGGCTTTGCAAACCCAGCCTC
CCAGTGCTCATTTGGGAATGCTCATGAGTTACTCCATTCAAGGGTGAGGGAGTAGGGAGGGAGA
GGCACCATGCATGTGGGTGATTATCTGCAAGCCTGTTTGCCGTGATGCTGGAAGCCTGTGCCAC
TACATCCTGGAGTTTGGCTCTAGTCACTTCTGGCTGCCTGGTGGCCACTGCTACAGCTGGTCCA
CAGAGAGGAGCACTTGTCTCCCCAGGGCTGCCATGGCAGCTATCAGGGGAATAGAAGGGAGAAA
GAGAATATCATGGGGAGAACATGTGATGGTGTGTGAATATCCCTGCTGGCTCTGATGCTGGTGG
GTACGAAAGGTGTGGGCTGTGATAGGAGAGGGCAGAGCCCATGTTTCCTGACATAGCTCTACAC
CTAAATAAGGGACTGAACCCTCCCAACTGTGGGAGCTCCTTAAACCCTCTGGGGAGCATACTGT
GTGCTCTCCCCATCTCCAGCCCCTCCCTCTGGGTTCCCAAGTTGAAGCCTAGACTTCTGGCTCA
AATGAAATAGATGTTTATGATAGAA

hide sequence

RefSeq Acc Id:

NM_052968 ⟹ NP_443200

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	116,789,367 - 116,792,420 (-)	NCBI
GRCh37	11	116,660,086 - 116,663,136 (-)	ENTREZGENE
Build 36	11	116,165,296 - 116,167,794 (-)	NCBI Archive
HuRef	11	112,592,079 - 112,595,129 (-)	ENTREZGENE
CHM1_1	11	116,544,726 - 116,547,776 (-)	NCBI
T2T-CHM13v2.0	11	116,803,991 - 116,807,044 (-)	NCBI

Sequence:

show sequence

ATAAAGCAGAATGTCTGCTCTCTGTGCCCAGACGTGAGCAGGCCTCCCTCCACCTGTCTTCTCA
GAGCAGGTAATGGCAAGCATGGCTGCCGTGCTCACCTGGGCTCTGGCTCTTCTTTCAGCGTTTT
CGGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGACAAAGGCAG
GGTGGAGCAGATCCATCAGCAGAAGATGGCTCGCGAGCCCGCGACCCTGAAAGACAGCCTTGAG
CAAGACCTCAACAATATGAACAAGTTCCTGGAAAAGCTGAGGCCTCTGAGTGGGAGCGAGGCTC
CTCGGCTCCCACAGGACCCGGTGGGCATGCGGCGGCAGCTGCAGGAGGAGTTGGAGGAGGTGAA
GGCTCGCCTCCAGCCCTACATGGCAGAGGCGCACGAGCTGGTGGGCTGGAATTTGGAGGGCTTG
CGGCAGCAACTGAAGCCCTACACGATGGATCTGATGGAGCAGGTGGCCCTGCGCGTGCAGGAGC
TGCAGGAGCAGTTGCGCGTGGTGGGGGAAGACACCAAGGCCCAGTTGCTGGGGGGCGTGGACGA
GGCTTGGGCTTTGCTGCAGGGACTGCAGAGCCGCGTGGTGCACCACACCGGCCGCTTCAAAGAG
CTCTTCCACCCATACGCCGAGAGCCTGGTGAGCGGCATCGGGCGCCACGTGCAGGAGCTGCACC
GCAGTGTGGCTCCGCACGCCCCCGCCAGCCCCGCGCGCCTCAGTCGCTGCGTGCAGGTGCTCTC
CCGGAAGCTCACGCTCAAGGCCAAGGCCCTGCACGCACGCATCCAGCAGAACCTGGACCAGCTG
CGCGAAGAGCTCAGCAGAGCCTTTGCAGGCACTGGGACTGAGGAAGGGGCCGGCCCGGACCCCC
AGATGCTCTCCGAGGAGGTGCGCCAGCGACTTCAGGCTTTCCGCCAGGACACCTACCTGCAGAT
AGCTGCCTTCACTCGCGCCATCGACCAGGAGACTGAGGAGGTCCAGCAGCAGCTGGCGCCACCT
CCACCAGGCCACAGTGCCTTCGCCCCAGAGTTTCAACAAACAGACAGTGGCAAGGTTCTGAGCA
AGCTGCAGGCCCGTCTGGATGACCTGTGGGAAGACATCACTCACAGCCTTCATGACCAGGGCCA
CAGCCATCTGGGGGACCCCTGAGGATCTACCTGCCCAGGCCCATTCCCAGCTCCTTGTCTGGGG
AGCCTTGGCTCTGAGCCTCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGAGGGTGG
AAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCACATCCAGCCTCCT
GCGACTCCCCAATCTGGATGCATTACATTCACCAGGCTTTGCAAACCCAGCCTCCCAGTGCTCA
TTTGGGAATGCTCATGAGTTACTCCATTCAAGGGTGAGGGAGTAGGGAGGGAGAGGCACCATGC
ATGTGGGTGATTATCTGCAAGCCTGTTTGCCGTGATGCTGGAAGCCTGTGCCACTACATCCTGG
AGTTTGGCTCTAGTCACTTCTGGCTGCCTGGTGGCCACTGCTACAGCTGGTCCACAGAGAGGAG
CACTTGTCTCCCCAGGGCTGCCATGGCAGCTATCAGGGGAATAGAAGGGAGAAAGAGAATATCA
TGGGGAGAACATGTGATGGTGTGTGAATATCCCTGCTGGCTCTGATGCTGGTGGGTACGAAAGG
TGTGGGCTGTGATAGGAGAGGGCAGAGCCCATGTTTCCTGACATAGCTCTACACCTAAATAAGG
GACTGAACCCTCCCAACTGTGGGAGCTCCTTAAACCCTCTGGGGAGCATACTGTGTGCTCTCCC
CATCTCCAGCCCCTCCCTCTGGGTTCCCAAGTTGAAGCCTAGACTTCTGGCTCAAATGAAATAG
ATGTTTATGATAGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001160070	(Get FASTA)	NCBI Sequence Viewer
	NP_001358833	(Get FASTA)	NCBI Sequence Viewer
	NP_443200	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF25661	(Get FASTA)	NCBI Sequence Viewer
	AAF25662	(Get FASTA)	NCBI Sequence Viewer
	AAI01788	(Get FASTA)	NCBI Sequence Viewer
	AAI01790	(Get FASTA)	NCBI Sequence Viewer
	AAQ89109	(Get FASTA)	NCBI Sequence Viewer
	AAQ91808	(Get FASTA)	NCBI Sequence Viewer
	AAS68229	(Get FASTA)	NCBI Sequence Viewer
	ACA05937	(Get FASTA)	NCBI Sequence Viewer
	ACA05938	(Get FASTA)	NCBI Sequence Viewer
	ACA05939	(Get FASTA)	NCBI Sequence Viewer
	AIY32613	(Get FASTA)	NCBI Sequence Viewer
	BAF85428	(Get FASTA)	NCBI Sequence Viewer
	BAG37658	(Get FASTA)	NCBI Sequence Viewer
	CAC24995	(Get FASTA)	NCBI Sequence Viewer
	CAD88066	(Get FASTA)	NCBI Sequence Viewer
	EAW67269	(Get FASTA)	NCBI Sequence Viewer
	EAW67270	(Get FASTA)	NCBI Sequence Viewer
	Q6Q788	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001160070 ⟸ NM_001166598
- Peptide Label:	precursor
- UniProtKB:	Q9UBJ3 (UniProtKB/Swiss-Prot), Q6Q788 (UniProtKB/Swiss-Prot), A0A0B4RUS7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDL NNMNKFLEKLRPLSGSEAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQ LKPYTMDLMEQVALRVQELQEQLRVVGEDTKAQLLGGVDEAWALLQGLQSRVVHHTGRFKELFH PYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAKALHARIQQNLDQLREE LSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP hide sequence

RefSeq Acc Id:	NP_443200 ⟸ NM_052968
- Peptide Label:	precursor
- UniProtKB:	Q9UBJ3 (UniProtKB/Swiss-Prot), Q6Q788 (UniProtKB/Swiss-Prot), A0A0B4RUS7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDL NNMNKFLEKLRPLSGSEAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQ LKPYTMDLMEQVALRVQELQEQLRVVGEDTKAQLLGGVDEAWALLQGLQSRVVHHTGRFKELFH PYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAKALHARIQQNLDQLREE LSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP hide sequence

RefSeq Acc Id:	NP_001358833 ⟸ NM_001371904
- Peptide Label:	precursor
- UniProtKB:	Q9UBJ3 (UniProtKB/Swiss-Prot), A0A0B4RUS7 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000227665 ⟸ ENST00000227665

RefSeq Acc Id:

ENSP00000501141 ⟸ ENST00000673688

RefSeq Acc Id:

ENSP00000445002 ⟸ ENST00000542499

RefSeq Acc Id:

ENSP00000399701 ⟸ ENST00000433069

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6Q788-F1-model_v2	AlphaFold	Q6Q788	1-366	view protein structure

Promoters

RGD ID:

7222211

Promoter ID:

EPDNEW_H16851

Type:

initiation region

Name:

APOA5_1

Description:

apolipoprotein A5

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H16852

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	116,791,879 - 116,791,939	EPDNEW

RGD ID:

7222213

Promoter ID:

EPDNEW_H16852

Type:

initiation region

Name:

APOA5_2

Description:

apolipoprotein A5

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H16851

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	116,792,418 - 116,792,478	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17288	AgrOrtholog
COSMIC	APOA5	COSMIC
Ensembl Genes	ENSG00000110243	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000227665	ENTREZGENE
	ENSP00000227665.4	UniProtKB/Swiss-Prot
	ENSP00000399701	ENTREZGENE
	ENSP00000399701.2	UniProtKB/Swiss-Prot
	ENSP00000445002	ENTREZGENE
	ENSP00000445002.1	UniProtKB/Swiss-Prot
	ENSP00000501141.1	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000227665	ENTREZGENE
	ENST00000227665.9	UniProtKB/Swiss-Prot
	ENST00000433069	ENTREZGENE
	ENST00000433069.2	UniProtKB/Swiss-Prot
	ENST00000542499	ENTREZGENE
	ENST00000542499.5	UniProtKB/Swiss-Prot
	ENST00000673688.1	UniProtKB/TrEMBL
Gene3D-CATH	Apolipoprotein	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000110243	GTEx
HGNC ID	HGNC:17288	ENTREZGENE
Human Proteome Map	APOA5	Human Proteome Map
InterPro	ApoA_E	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:116519	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	116519	ENTREZGENE
OMIM	606368	OMIM
PANTHER	APOLIPOPROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	APOLIPOPROTEIN A-V	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Apolipoprotein	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	APOA5	RGD, PharmGKB
Superfamily-SCOP	Apolipoprotein A-I	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0B4RUS7	ENTREZGENE, UniProtKB/TrEMBL
	A0A669KB69_HUMAN	UniProtKB/TrEMBL
	APOA5_HUMAN	UniProtKB/Swiss-Prot
	B0YIW1_HUMAN	UniProtKB/TrEMBL
	Q6Q788	ENTREZGENE
	Q9UBJ3	ENTREZGENE
UniProt Secondary	B0YIV9	UniProtKB/Swiss-Prot
	Q3MIK6	UniProtKB/Swiss-Prot
	Q6UWK9	UniProtKB/Swiss-Prot
	Q9UBJ3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-03	APOA5	apolipoprotein A5		apolipoprotein A-V	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - GAD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - GAD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar