PPARA (peroxisome proliferator activated receptor alpha) - Rat Genome Database

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Gene: PPARA (peroxisome proliferator activated receptor alpha) Homo sapiens
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Symbol: PPARA
Name: peroxisome proliferator activated receptor alpha
RGD ID: 737309
HGNC Page HGNC:9232
Description: Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and ubiquitin conjugating enzyme binding activity. Involved in several processes, including negative regulation of cholesterol storage; negative regulation of macrophage derived foam cell differentiation; and regulation of primary metabolic process. Acts upstream of or within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Is active in nucleus. Implicated in Alzheimer's disease; coronary artery disease; hepatocellular carcinoma; lipid metabolism disorder; and myocardial infarction. Biomarker of cystic fibrosis and steatotic liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hPPAR; MGC2237; MGC2452; NR1C1; nuclear receptor subfamily 1 group C member 1; peroxisome proliferative activated receptor, alpha; peroxisome proliferator-activated nuclear receptor alpha variant 3; peroxisome proliferator-activated receptor alpha; PPAR; PPAR-alpha; PPARalpha
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
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382246,150,526 - 46,243,756 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2246,150,521 - 46,243,755 (+)EnsemblGRCh38hg38GRCh38
GRCh372246,546,429 - 46,639,653 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362244,925,163 - 45,018,317 (+)NCBINCBI36Build 36hg18NCBI36
Build 342244,893,181 - 44,937,060NCBI
Celera2230,453,877 - 30,547,038 (+)NCBICelera
Cytogenetic Map22q13.31ENTREZGENE
HuRef2229,490,745 - 29,583,687 (+)NCBIHuRef
CHM1_12246,506,503 - 46,598,389 (+)NCBICHM1_1
T2T-CHM13v2.02246,635,225 - 46,728,457 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal obesity-metabolic syndrome  (EXP)
acute kidney tubular necrosis  (EXP)
alcohol use disorder  (ISO)
alcoholic hepatitis  (ISO)
Alcoholic Liver Diseases  (ISO)
Alzheimer's disease  (IAGP)
Animal Mammary Neoplasms  (EXP)
anti-basement membrane glomerulonephritis  (ISO)
atopic dermatitis  (EXP,ISO)
Brain Injuries  (ISO)
Cachexia  (IEP)
carcinoma  (EXP)
Cardiomegaly  (EXP)
Chemical and Drug Induced Liver Injury  (EXP,ISO)
Chronic Hepatitis C  (IEP)
colitis  (ISO)
coronary artery disease  (IAGP)
Crohn's disease  (EXP)
cystic fibrosis  (IEP)
diabetes mellitus  (ISS)
Diabetic Cardiomyopathies  (ISO)
disease of cellular proliferation  (EXP)
Drug-Related Side Effects and Adverse Reactions  (EXP)
Dyslipidemias  (EXP)
end stage renal disease  (EXP)
Experimental Autoimmune Encephalomyelitis  (EXP)
Experimental Diabetes Mellitus  (EXP)
Experimental Mammary Neoplasms  (EXP)
familial hyperlipidemia  (EXP)
hepatocellular carcinoma  (IAGP)
Hepatomegaly  (EXP)
hydrocephalus  (ISO)
Hyperapobetalipoproteinemia  (IAGP)
Hyperlipoproteinemias  (EXP)
hypertension  (EXP,ISO)
hypertensive encephalopathy  (ISO)
Hypertensive Nephropathy  (ISO)
Hypertriglyceridemia  (EXP)
hypoglycemia  (EXP)
Hypoxia  (ISO)
Inflammation  (EXP)
Insulin Resistance  (EXP,ISO)
intellectual disability  (IAGP)
kidney disease  (EXP)
Left Ventricular Hypertrophy  (IAGP)
lipid metabolism disorder  (IAGP)
Liver Neoplasms  (EXP)
metabolic dysfunction and alcohol associated liver disease  (EXP)
metabolic dysfunction-associated steatotic liver disease  (EXP,ISO)
Metabolic Syndrome  (ISO)
Multiple Organ Failure  (ISO)
muscular disease  (EXP)
myocardial infarction  (IAGP)
Myocardial Reperfusion Injury  (EXP)
Neoplasm Metastasis  (EXP)
obesity  (EXP,ISO)
periodontitis  (ISO)
Phelan-McDermid syndrome  (IAGP)
Prenatal Exposure Delayed Effects  (ISO)
Prostatic Neoplasms  (EXP)
proteinuria  (EXP)
Reperfusion Injury  (EXP,ISO)
schizophrenia  (ISS)
Sepsis  (IEP)
steatotic liver disease  (EXP,IEP,ISO)
type 1 diabetes mellitus  (ISO)
type 2 diabetes mellitus  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-beta-thujone  (EXP)
(+)-catechin  (ISO)
(+)-schisandrin B  (ISO)
(+)-taxifolin  (EXP)
(-)-acanthoic acid  (ISO)
(-)-Arctigenin  (EXP)
(-)-matairesinol  (EXP)
(1->4)-beta-D-glucan  (ISO)
(3-phenoxyphenyl)methanol  (ISO)
(9E,11E)-octadecadienoic acid  (EXP)
(R)-camphor  (EXP)
(R)-carnitine  (ISO)
(R)-linalyl acetate  (EXP)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(R,R,R)-alpha-tocopherol  (EXP,ISO)
(S)-naringenin  (ISO)
(S)-nicotine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (EXP,ISO)
1,4-bis(2-ethylhexyl) sulfosuccinate  (EXP)
1,4-dichlorobenzene  (ISO)
1,8-cineole  (EXP)
1-benzofuran  (ISO)
1-chloro-2,4,6-trinitrobenzene  (ISO)
1-naphthol  (ISO)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
13-HPODE  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2'-Dihydroxy-4-methoxybenzophenone  (EXP)
2,2,3,3,4,4,5,5,6,6,7,7,8,8,9,9-hexadecafluorononanoic acid  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (EXP)
2-acetyl-1-alkyl-sn-glycero-3-phosphocholine  (EXP)
2-amino-2-deoxy-D-galactopyranose  (EXP,ISO)
2-arachidonoylglycerol  (ISO)
2-deoxy-D-glucose  (ISO)
2-Ethylhexanoic acid  (EXP,ISO)
2-methyl-2-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenoxy]propanoic acid  (EXP,ISO)
25-hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5'-triiodo-L-thyronine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (EXP,ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (EXP,ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-hydroxybutyric acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-methyladenine  (EXP)
3-methylcholanthrene  (ISO)
3-phenoxybenzoic acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-(2-chloroethyl)-4-methylthiazole  (ISO)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
7-ketocholesterol  (ISO)
8-Br-cAMP  (EXP)
9-cis,11-trans-octadecadienoic acid  (ISO)
9-cis-retinoic acid  (EXP)
acadesine  (EXP,ISO)
acetaldehyde  (EXP,ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP,ISO)
acrolein  (ISO)
acrylamide  (EXP,ISO)
Aescin  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
alcohol  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
allopurinol  (EXP,ISO)
alpha-linolenic acid  (EXP,ISO)
alpha-naphthoflavone  (ISO)
amiodarone  (ISO)
amlexanox  (ISO)
ammonium chloride  (ISO)
anandamide  (EXP)
angiotensin II  (ISO)
Ankaflavin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
apigenin  (ISO)
arachidonic acid  (EXP)
arachidonoyl-CoA  (EXP)
Arctiin  (EXP)
aristolochic acid A  (EXP)
aristolochic acids  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
aspartame  (ISO)
atazanavir sulfate  (EXP)
atorvastatin calcium  (EXP,ISO)
ATP  (ISO)
atrazine  (ISO)
atropine  (ISO)
avobenzone  (EXP)
Azoxymethane  (ISO)
benzalkonium chloride  (ISO)
benzamides  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
Benzyl parahydroxybenzoate  (ISO)
berberine  (ISO)
beta-carotene  (ISO)
beta-naphthoflavone  (ISO)
betulinic acid  (EXP)
Betulonic acid  (EXP)
bezafibrate  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol AF  (EXP,ISO)
bisphenol F  (EXP,ISO)
bisphenol F diglycidyl ether  (ISO)
bleomycin A2  (ISO)
boron atom  (ISO)
budesonide  (ISO)
butanal  (EXP)
Butylbenzyl phthalate  (EXP,ISO)
Butylparaben  (ISO)
butyric acid  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
Calphostin C  (ISO)
camphor  (EXP)
cannabidiol  (ISO)
cannabidiolic acid  (EXP,ISO)
cannabigerol  (EXP,ISO)
cannabigerolic acid  (EXP,ISO)
capsaicin  (EXP,ISO)
carbamazepine  (ISO)
carbaryl  (ISO)
carbon dioxide  (ISO)
carbon nanotube  (ISO)
carvedilol  (ISO)
cefuroxime  (ISO)
celecoxib  (EXP)
cerivastatin  (EXP)
chenodeoxycholic acid  (EXP,ISO)
CHIR 99021  (ISO)
chitosan  (ISO)
chlorothalonil  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP,ISO)
cholic acid  (ISO)
choline  (EXP,ISO)
chromium atom  (EXP,ISO)
chrysin  (EXP)
ciglitazone  (EXP,ISO)
ciguatoxin CTX1B  (ISO)
ciprofibrate  (EXP,ISO)
cisplatin  (EXP,ISO)
citronellol  (EXP)
CL316243  (ISO)
Clinofibrate  (EXP)
clofibrate  (EXP,ISO)
clofibric acid  (EXP,ISO)
Clofop  (EXP)
cobalt dichloride  (EXP,ISO)
conjugated linoleic acid  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
corticosterone  (ISO)
cortisol  (EXP)
cyanamide  (ISO)
cyanocob(III)alamin  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cyproconazole  (ISO)
D-glucose  (EXP,ISO)
D-penicillamine  (ISO)
dapagliflozin  (ISO)
DAPT  (ISO)
daunorubicin  (ISO)
decabromodiphenyl ether  (ISO)
dehydroepiandrosterone  (EXP,ISO)
dehydroepiandrosterone sulfate  (ISO)
deoxycholic acid  (EXP,ISO)
Deoxyschizandrin  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
Di-n-decyl phthalate  (EXP)
Di-n-hexyl phthalate  (EXP)
Di-n-octyl phthalate  (ISO)
diallyl disulfide  (ISO)
Diallyl sulfide  (EXP,ISO)
diallyl trisulfide  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (EXP)
dibutyl phthalate  (EXP,ISO)
dichloroacetic acid  (EXP,ISO)
diclofop-methyl  (ISO)
diethyl maleate  (ISO)
diethyl phthalate  (EXP,ISO)
diethyldithiocarbamic acid  (EXP)
difenoconazole  (ISO)
diheptyl phthalate  (EXP)
dihydroartemisinin  (EXP,ISO)
diisobutyl phthalate  (ISO)
Diisodecyl phthalate  (EXP,ISO)
diisononyl phthalate  (EXP,ISO)
Dimethyl phthalate  (EXP)
dimethyl sulfoxide  (EXP)
Diosbulbin B  (ISO)
dioscin  (ISO)
dioxygen  (ISO)
dipentyl phthalate  (EXP)
dipropyl phthalate  (EXP)
disodium selenite  (ISO)
diuron  (EXP)
dodecanoic acid  (EXP)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP,ISO)
elemental boron  (ISO)
elemental selenium  (ISO)
enalapril  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
etomoxir  (ISO)
farnesol  (EXP)
fenofibrate  (EXP,ISO)
fenoprofen  (EXP)
fentin chloride  (ISO)
fipronil  (EXP)
flufenamic acid  (EXP)
fluoxetine  (ISO)
fluvastatin  (EXP)
folic acid  (ISO)
folpet  (ISO)
fomepizole  (ISO)
fructose  (ISO)
fucoxanthin  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gadolinium trichloride  (ISO)
gamma-aminobutyric acid  (ISO)
gamma-linolenic acid  (EXP)
gedunin  (ISO)
gemcitabine  (ISO)
gemfibrozil  (EXP,ISO)
gentamycin  (ISO)
geraniol  (EXP,ISO)
geranylgeraniol  (EXP)
Gingerenone A  (ISO)
ginsenoside Rf  (ISO)
glucagon  (ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
glycine betaine  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhizinic acid  (ISO)
glyphosate  (ISO)
gossypetin  (ISO)
gramine  (EXP)
griseofulvin  (ISO)
guggulsterone  (ISO)
GW 4064  (EXP,ISO)
GW 501516  (EXP,ISO)
GW 6471  (EXP,ISO)
GW 7647  (EXP,ISO)
HET0016  (ISO)
hexadecanoic acid  (EXP,ISO)
hydrazine  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroxytyrosol  (ISO)
ibuprofen  (EXP,ISO)
icariin  (ISO)
idebenone  (ISO)
Ile(5)-angiotensin II  (ISO)
imidacloprid  (ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
isoniazide  (ISO)
isoprenaline  (ISO)
isosilybin  (EXP)
ivermectin  (EXP)
Jujuboside A  (EXP,ISO)
ketoconazole  (ISO)
L-methionine  (EXP,ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
leukotriene B4  (EXP,ISO)
levofloxacin  (ISO)
linalool  (EXP,ISO)
linalyl acetate  (EXP)
linoleic acid  (EXP,ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (EXP,ISO)
losartan  (ISO)
LY294002  (EXP)
lycopene  (ISO)
malathion  (ISO)
malonyl-CoA  (ISO)
mangiferin  (EXP,ISO)
mechlorethamine  (ISO)
MeIQx  (EXP)
melatonin  (ISO)
meldonium  (ISO)
mercury dichloride  (ISO)
Mesaconitine  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
methiocarb  (ISO)
methotrexate  (EXP)
methoxsalen  (ISO)
methylparaben  (ISO)
metoprolol  (ISO)
mevalonic acid  (EXP)
miquelianin  (ISO)
monascin  (ISO)
mono(2-ethyl-5-hydroxyhexyl) phthalate  (EXP)
mono(2-ethyl-5-oxohexyl) phthalate  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
mono(5-carboxy-2-ethylpentyl) phthalate  (EXP)
monobenzyl phthalate  (EXP,ISO)
Monobutylphthalate  (EXP)
monocrotophos  (ISO)
monoethyl phthalate  (EXP,ISO)
monohexyl phthalate  (EXP)
Monomethyl phthalate  (EXP)
monooctyl phthalate  (EXP)
monosodium L-glutamate  (ISO)
Muraglitazar  (EXP,ISO)
myricetin  (ISO)
myristoyl-CoA  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-acetyl-beta-D-glucosamine  (ISO)
N-acetyl-D-glucosamine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-phenylthiourea  (EXP)
nafenopin  (EXP,ISO)
naphthalene  (ISO)
naproxen  (ISO)
naringin  (ISO)
nefazodone  (EXP)
nicotine  (ISO)
nicotinic acid  (EXP,ISO)
nimesulide  (EXP)
nitric oxide  (EXP,ISO)
nitrites  (ISO)
nitrofen  (ISO)
NMN zwitterion  (ISO)
nonanoic acid  (EXP)
norathyriol  (EXP)
NS-398  (EXP,ISO)
obeticholic acid  (EXP,ISO)
octadecanoic acid  (EXP)
octanoic acid  (EXP,ISO)
octocrylene  (EXP)
okadaic acid  (EXP,ISO)
olaparib  (ISO)
oleanolic acid  (ISO)
oleic acid  (EXP,ISO)
oleoyl ethanolamide  (EXP,ISO)
oleoyl-CoA  (EXP)
orotic acid  (ISO)
oroxylin A  (EXP,ISO)
osthole  (EXP,ISO)
oxazepam  (ISO)
oxybenzone  (EXP)
ozone  (EXP,ISO)
palmitoyl ethanolamide  (ISO)
palmitoyl-CoA  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parthenolide  (EXP)
penconazole  (ISO)
pentanal  (EXP)
pentane-2,3-dione  (ISO)
perfluorobutanesulfonic acid  (EXP,ISO)
perfluorobutyric acid  (EXP,ISO)
perfluorodecanoic acid  (EXP,ISO)
perfluorododecanoic acid  (EXP,ISO)
perfluoroheptanoic acid  (EXP,ISO)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorohexanoic acid  (EXP,ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanesulfonamide  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perfluoropentanoic acid  (EXP,ISO)
perfluoroundecanoic acid  (EXP,ISO)
permethrin  (EXP,ISO)
phenobarbital  (EXP,ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
PhIP  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
phthalic acid  (EXP)
phytanic acid  (EXP,ISO)
phytol  (ISO)
picoxystrobin  (EXP)
pinostrobin  (EXP)
pioglitazone  (EXP,ISO)
pirinixic acid  (EXP,ISO)
pitavastatin  (EXP)
pitavastatin(1-)  (EXP)
pravastatin  (ISO)
prednisone  (ISO)
pregnenolone 16alpha-carbonitrile  (EXP,ISO)
prochloraz  (EXP)
procymidone  (ISO)
propiconazole  (ISO)
propylparaben  (ISO)
propyzamide  (ISO)
Ptaquiloside  (ISO)
pterostilbene  (EXP,ISO)
puerarin  (ISO)
pyrazinecarboxamide  (ISO)
pyrethrins  (ISO)
Pyridostigmine bromide  (ISO)
pyridoxal 5'-phosphate  (ISO)
pyrimidifen  (EXP)
quercetin  (EXP,ISO)
quinoline  (EXP)
quizalofop-ethyl  (ISO)
raffinose  (EXP,ISO)
raspberry ketone  (ISO)
reactive oxygen species  (ISO)
rebaudioside A  (ISO)
regorafenib  (EXP)
resveratrol  (EXP,ISO)
rifampicin  (EXP,ISO)
rimonabant  (ISO)
rosmarinic acid  (EXP)
rotenone  (EXP,ISO)
rutin  (ISO)
sabinene  (EXP)
saccharin  (ISO)
salicylamide  (ISO)
Salvianolic acid A  (ISO)
SB 431542  (EXP)
scopoletin  (ISO)
selenium atom  (ISO)
sevoflurane  (ISO)
silibinin  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP,ISO)
sirolimus  (ISO)
sodium arsenite  (EXP)
sodium cholate  (ISO)
sodium dichromate  (ISO)
Sodium oleate  (EXP,ISO)
spathulenol  (EXP)
sphingosine 1-phosphate  (ISO)
spironolactone  (ISO)
stearoyl-CoA  (EXP)
steviol  (ISO)
stevioside  (ISO)
streptozocin  (ISO)
sucrose  (ISO)
Sudan III  (EXP,ISO)
sulfluramid  (EXP)
sulindac sulfide  (EXP)
sulindac sulfone  (EXP)
sunitinib  (EXP)
Sunset Yellow FCF  (EXP)
syringin  (EXP)
tacrolimus hydrate  (EXP)
tamoxifen  (ISO)
taurine  (EXP)
tauro-beta-muricholic acid  (ISO)
taurocholic acid  (ISO)
tauroursodeoxycholic acid  (ISO)
tectoridin  (ISO)
tectorigenin  (ISO)
tert-butyl ethyl ether  (ISO)
tert-butyl hydroperoxide  (ISO)
Tesaglitazar  (EXP,ISO)
testosterone  (EXP,ISO)
testosterone cypionate  (ISO)
tetrachloroethene  (EXP,ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetradecanoic acid  (EXP)
tetramethylpyrazine  (ISO)
tetraphene  (ISO)
tetrathiomolybdate(2-)  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolazoline  (ISO)
tolmetin  (ISO)
tomelukast  (EXP)
Torularhodin  (ISO)
tributyl phosphate  (EXP)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichloroacetic acid  (EXP,ISO)
trichloroethene  (EXP,ISO)
trichostatin A  (EXP)
triclosan  (EXP,ISO)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
tris(2,3-dibromopropyl) phosphate  (EXP)
tris(2-chloroethyl) phosphate  (EXP,ISO)
troglitazone  (EXP,ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
trovafloxacin  (ISO)
tunicamycin  (ISO)
tyloxapol  (ISO)
ubiquinones  (ISO)
urea  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
voriconazole  (ISO)
WIN 55212-2  (EXP)
wortmannin  (ISO)
zearalenone  (EXP)
zinc atom  (EXP,ISO)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)
zingerone  (ISO)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
behavioral response to nicotine  (IEA,ISO)
cell differentiation  (IBA)
cellular response to fructose stimulus  (IEA,ISO)
cellular response to starvation  (IEA,ISS)
circadian regulation of gene expression  (IEA,ISS)
enamel mineralization  (IEA)
epidermis development  (IEA)
fatty acid metabolic process  (IBA,IEA,ISO)
gene expression  (IEA)
gluconeogenesis  (IEA)
heart development  (IEA,ISO)
hormone-mediated signaling pathway  (IBA)
intracellular receptor signaling pathway  (IBA,IEA)
lactation  (IEA,ISO)
lipid metabolic process  (IEA)
lipoprotein metabolic process  (IEA,ISO)
negative regulation of appetite  (IEA,ISS)
negative regulation of blood pressure  (IEA,ISO)
negative regulation of cell growth involved in cardiac muscle cell development  (IEA,ISO)
negative regulation of cholesterol storage  (IBA,IDA)
negative regulation of cytokine production involved in inflammatory response  (IMP)
negative regulation of glycolytic process  (IDA)
negative regulation of hepatocyte apoptotic process  (IMP)
negative regulation of inflammatory response  (IBA,IDA)
negative regulation of leukocyte cell-cell adhesion  (IDA)
negative regulation of macrophage derived foam cell differentiation  (IDA)
negative regulation of miRNA transcription  (IDA)
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IMP)
negative regulation of protein binding  (ISO)
negative regulation of reactive oxygen species biosynthetic process  (IMP)
negative regulation of transcription by RNA polymerase II  (IBA,IDA)
negative regulation of transforming growth factor beta receptor signaling pathway  (IDA)
nitric oxide metabolic process  (IEA,ISO)
nuclear receptor-mediated steroid hormone signaling pathway  (IEA)
peroxisome proliferator activated receptor signaling pathway  (IDA,IEA,ISS)
positive regulation of ATP biosynthetic process  (IMP)
positive regulation of DNA-templated transcription  (IDA,IEA)
positive regulation of fatty acid beta-oxidation  (TAS)
positive regulation of fatty acid metabolic process  (IBA)
positive regulation of fatty acid oxidation  (IEA,ISS)
positive regulation of gluconeogenesis  (IEA)
positive regulation of lipid biosynthetic process  (IMP)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,ISS)
protein ubiquitination  (ISO)
regulation of circadian rhythm  (IEA,ISS)
regulation of DNA-templated transcription  (IEA,ISO)
regulation of fatty acid metabolic process  (IDA)
regulation of fatty acid transport  (TAS)
regulation of gene expression  (IEA)
regulation of ketone metabolic process  (IDA)
response to ethanol  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to insulin  (IEA,ISO)
response to nutrient  (IEA,ISO)
rhythmic process  (IEA)
wound healing  (IEA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
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13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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23. Amelioration of high fructose-induced metabolic derangements by activation of PPARalpha. Nagai Y, etal., Am J Physiol Endocrinol Metab 2002 May;282(5):E1180-90.
24. Skeletal Muscle Characteristics of Rats with Obesity, Diabetes, Hypertension, and Hyperlipidemia. Nagatomo F, etal., J Atheroscler Thromb. 2009 Sep 18.
25. Peroxisome proliferator-activated receptor alpha protects against alcohol-induced liver damage. Nakajima T, etal., Hepatology. 2004 Oct;40(4):972-80.
26. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
27. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
28. Peroxisome proliferator-activated receptor expression is reduced in skeletal muscle in COPD. Remels AH, etal., Eur Respir J. 2007 Aug;30(2):245-52. Epub 2007 Apr 25.
29. Peroxisome proliferator-activated receptor alpha (PPAR alpha) down-regulation in cystic fibrosis lymphocytes. Reynders V, etal., Respir Res. 2006 Jul 30;7:104.
30. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
31. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
32. Impact of intermittent voluntary ethanol consumption during adolescence on the expression of endocannabinoid system and neuroinflammatory mediators. Sanchez-Marin L, etal., Eur Neuropsychopharmacol. 2020 Apr;33:126-138. doi: 10.1016/j.euroneuro.2020.01.012. Epub 2020 Feb 10.
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34. Reduced PPARalpha Expression is Associated With Decreased Survival and Increased Tissue Bacterial Load in Sepsis. Standage SW, etal., Shock. 2011 Nov 15.
35. Association between the PPARA L162V polymorphism and plasma lipid levels: the Framingham Offspring Study. Tai ES, etal., Arterioscler Thromb Vasc Biol. 2002 May 1;22(5):805-10.
36. Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia. Vohl MC, etal., J Lipid Res. 2000 Jun;41(6):945-52.
37. Peroxisome proliferator-activated receptor-alpha activation reduces salt-dependent hypertension during chronic endothelin B receptor blockade. Williams JM, etal., Hypertension. 2005 Aug;46(2):366-71. Epub 2005 Jun 20.
38. Mouse trefoil factor 3 ameliorated high-fat-diet-induced hepatic steatosis via increasing peroxisome proliferator-activated receptor-α-mediated fatty acid oxidation. Wu X, etal., Am J Physiol Endocrinol Metab. 2019 Sep 1;317(3):E436-E445. doi: 10.1152/ajpendo.00454.2018. Epub 2019 Jun 18.
39. Dihydroartemisinin protects against alcoholic liver injury through alleviating hepatocyte steatosis in a farnesoid X receptor-dependent manner. Xu W, etal., Toxicol Appl Pharmacol. 2017 Jan 15;315:23-34. doi: 10.1016/j.taap.2016.12.001. Epub 2016 Dec 6.
40. Differential transcriptional expression of PPARalpha, PPARgamma1, and PPARgamma2 in the peritoneal macrophages and T-cell subsets of non-obese diabetic mice. Yaacob NS, etal., J Clin Immunol. 2009 Sep;29(5):595-602. Epub 2009 May 27.
41. WY14643 improves left ventricular myocardial mitochondrial and systolic functions in obese rats under chronic persistent hypoxia via the PPARα pathway. Yan J, etal., Life Sci. 2021 Feb 1;266:118888. doi: 10.1016/j.lfs.2020.118888. Epub 2020 Dec 10.
42. Lack of PPARalpha exacerbates lipopolysaccharide-induced liver toxicity through STAT1 inflammatory signaling and increased oxidative/nitrosative stress. Yoo SH, etal., Toxicol Lett. 2011 Apr 10;202(1):23-9. Epub 2011 Jan 22.
43. Contemporaneous carrier-state of two or three "proatherosclerotic" variants of APOE, ICAM1, PPARA and PAI-1 genes differentiate CAD patients from healthy individuals. Zak I, etal., Clin Chim Acta. 2005 Dec;362(1-2):110-8. Epub 2005 Jul 25.
Additional References at PubMed
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PMID:27896820   PMID:27918085   PMID:27920474   PMID:27926792   PMID:27930988   PMID:27979751   PMID:28012209   PMID:28111985   PMID:28287408   PMID:28292576   PMID:28385499   PMID:28558994  
PMID:28586153   PMID:28611215   PMID:28669518   PMID:28732066   PMID:28899779   PMID:29059162   PMID:29197627   PMID:29301506   PMID:29331071   PMID:29350678   PMID:29391755   PMID:29421333  
PMID:29442267   PMID:29507755   PMID:29699951   PMID:29771182   PMID:29799467   PMID:29862267   PMID:29971543   PMID:30054499   PMID:30206765   PMID:30212482   PMID:30324415   PMID:30428868  
PMID:30558790   PMID:30562729   PMID:30567368   PMID:30568000   PMID:30573521   PMID:30607709   PMID:30639234   PMID:30658672   PMID:30670309   PMID:30677458   PMID:30697628   PMID:30734676  
PMID:30898012   PMID:31004117   PMID:31154022   PMID:31356784   PMID:31391242   PMID:31407515   PMID:31430204   PMID:31484694   PMID:31574452   PMID:31611175   PMID:31640222   PMID:31696492  
PMID:31823010   PMID:31847785   PMID:31857256   PMID:31858569   PMID:31927097   PMID:31947684   PMID:31974142   PMID:32130908   PMID:32185192   PMID:32296183   PMID:32385743   PMID:32430061  
PMID:32558488   PMID:32589900   PMID:32621919   PMID:32814053   PMID:32859692   PMID:32912065   PMID:33086073   PMID:33123597   PMID:33279456   PMID:33390794   PMID:33398393   PMID:33414412  
PMID:33466690   PMID:33477821   PMID:33580458   PMID:33728018   PMID:33957574   PMID:34028240   PMID:34081964   PMID:34228639   PMID:34471048   PMID:34474167   PMID:34638886   PMID:34638914  
PMID:34857752   PMID:34944058   PMID:35282837   PMID:35324527   PMID:35363365   PMID:35395550   PMID:35459765   PMID:35460276   PMID:35575683   PMID:35748872   PMID:35988420   PMID:36090996  
PMID:36139455   PMID:36217029   PMID:36305579   PMID:36552725   PMID:36589809   PMID:36626642   PMID:36812713   PMID:36933792   PMID:37204637   PMID:37286039   PMID:37482742   PMID:37670711  
PMID:37805161   PMID:37926201   PMID:38015538   PMID:38167146   PMID:39000217   PMID:39251636  


Genomics

Comparative Map Data
PPARA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382246,150,526 - 46,243,756 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2246,150,521 - 46,243,755 (+)EnsemblGRCh38hg38GRCh38
GRCh372246,546,429 - 46,639,653 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362244,925,163 - 45,018,317 (+)NCBINCBI36Build 36hg18NCBI36
Build 342244,893,181 - 44,937,060NCBI
Celera2230,453,877 - 30,547,038 (+)NCBICelera
Cytogenetic Map22q13.31ENTREZGENE
HuRef2229,490,745 - 29,583,687 (+)NCBIHuRef
CHM1_12246,506,503 - 46,598,389 (+)NCBICHM1_1
T2T-CHM13v2.02246,635,225 - 46,728,457 (+)NCBIT2T-CHM13v2.0
Ppara
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391585,619,112 - 85,691,052 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1585,619,184 - 85,687,020 (+)EnsemblGRCm39 Ensembl
GRCm381585,734,910 - 85,806,851 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1585,734,983 - 85,802,819 (+)EnsemblGRCm38mm10GRCm38
MGSCv371585,565,994 - 85,637,281 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361585,563,542 - 85,630,585 (+)NCBIMGSCv36mm8
Celera1587,868,281 - 87,938,913 (+)NCBICelera
Cytogenetic Map15E2NCBI
cM Map1540.42NCBI
Ppara
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87118,712,261 - 118,780,723 (+)NCBIGRCr8
GRCr8 Ensembl7118,712,412 - 118,780,714 (+)EnsemblGRCr8 Ensembl
mRatBN7.27116,832,405 - 116,900,878 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7116,832,756 - 116,895,346 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7118,583,352 - 118,646,124 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07120,808,966 - 120,871,752 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07120,778,539 - 120,841,315 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07126,618,872 - 126,687,282 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7126,619,196 - 126,681,752 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07126,330,559 - 126,397,441 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47123,729,774 - 123,807,090 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7113,125,201 - 113,187,404 (+)NCBICelera
RGSC_v3.17123,764,003 - 123,841,320 (+)NCBI
RH 3.4 Map7922.4RGD
Cytogenetic Map7q34NCBI
Ppara
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541330,307,219 - 30,359,500 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541330,306,563 - 30,366,245 (+)NCBIChiLan1.0ChiLan1.0
PPARA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22355,981,175 - 56,072,797 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12258,679,171 - 58,770,754 (+)NCBINHGRI_mPanPan1
PanPan1.12245,218,364 - 45,302,970 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2245,218,364 - 45,302,970 (+)Ensemblpanpan1.1panPan2
PPARA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11019,934,020 - 20,006,096 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1019,934,165 - 20,006,146 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1019,862,969 - 19,928,467 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01020,667,818 - 20,740,885 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1020,668,580 - 20,740,947 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11020,394,544 - 20,460,174 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01020,707,323 - 20,772,988 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01020,889,156 - 20,954,630 (-)NCBIUU_Cfam_GSD_1.0
Ppara
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049453,665,412 - 3,725,573 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366293,672,460 - 3,725,626 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366293,672,445 - 3,725,645 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPARA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl53,300,741 - 3,364,239 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.153,302,755 - 3,321,091 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25470,097 - 488,440 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPARA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11928,614,892 - 28,709,272 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1928,615,413 - 28,708,763 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236661593,466 - 79,995 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppara
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247523,650,922 - 3,701,672 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247523,646,499 - 3,702,553 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPARA
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005036.6(PPARA):c.484C>G (p.Leu162Val) single nucleotide variant Hyperapobetalipoproteinemia, susceptibility to [RCV000014700] Chr22:46218377 [GRCh38]
Chr22:46614274 [GRCh37]
Chr22:22q13.31
risk factor|benign
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 copy number gain See cases [RCV000050316] Chr22:46183346..46791748 [GRCh38]
Chr22:46579243..47187645 [GRCh37]
Chr22:44957907..45566309 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3 copy number gain See cases [RCV000052891] Chr22:45954698..47245325 [GRCh38]
Chr22:46350578..47641075 [GRCh37]
Chr22:44729242..46019739 [NCBI36]
Chr22:22q13.31
uncertain significance
NM_005036.4(PPARA):c.234C>T (p.Pro78=) single nucleotide variant Malignant melanoma [RCV000073000] Chr22:46215198 [GRCh38]
Chr22:46611095 [GRCh37]
Chr22:44989759 [NCBI36]
Chr22:22q13.31
not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33
benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1 copy number loss See cases [RCV000138217] Chr22:45445795..47832195 [GRCh38]
Chr22:45841676..48227944 [GRCh37]
Chr22:44220340..46606608 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3 copy number gain See cases [RCV000143486] Chr22:44832749..46353315 [GRCh38]
Chr22:45228629..46749212 [GRCh37]
Chr22:43607293..45127876 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 copy number gain See cases [RCV000148265] Chr22:46183346..46791748 [GRCh38]
Chr22:46579243..47187645 [GRCh37]
Chr22:44957907..45566309 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1 copy number loss See cases [RCV000239941] Chr22:46316673..50357320 [GRCh37]
Chr22:22q13.31-13.33
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31(chr22:45769244-46630634)x1 copy number loss See cases [RCV000446891] Chr22:45769244..46630634 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_005036.6(PPARA):c.628A>C (p.Ile210Leu) single nucleotide variant not specified [RCV004304737] Chr22:46219931 [GRCh38]
Chr22:46615828 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.31(chr22:46189128-46998144)x3 copy number gain See cases [RCV000512253] Chr22:46189128..46998144 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1 copy number loss See cases [RCV000512399] Chr22:46406694..48524541 [GRCh37]
Chr22:22q13.31-13.32
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_005036.6(PPARA):c.245C>T (p.Thr82Ile) single nucleotide variant not provided [RCV000906095] Chr22:46215209 [GRCh38]
Chr22:46611106 [GRCh37]
Chr22:22q13.31
likely benign
NM_005036.6(PPARA):c.705C>T (p.Asn235=) single nucleotide variant not provided [RCV000968794] Chr22:46220008 [GRCh38]
Chr22:46615905 [GRCh37]
Chr22:22q13.31
benign
NM_005036.6(PPARA):c.680T>C (p.Val227Ala) single nucleotide variant PPARA-related disorder [RCV003933280]|not provided [RCV000949632] Chr22:46219983 [GRCh38]
Chr22:46219983..46219984 [GRCh38]
Chr22:46615880 [GRCh37]
Chr22:46615880..46615881 [GRCh37]
Chr22:22q13.31
benign
NM_005036.6(PPARA):c.1160-3T>C single nucleotide variant not provided [RCV000921455] Chr22:46235130 [GRCh38]
Chr22:46631027 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_005036.6(PPARA):c.550C>T (p.Leu184=) single nucleotide variant not provided [RCV000901478] Chr22:46219853 [GRCh38]
Chr22:46615750 [GRCh37]
Chr22:22q13.31
benign
NM_005036.6(PPARA):c.984C>T (p.Asp328=) single nucleotide variant not provided [RCV000944724] Chr22:46232064 [GRCh38]
Chr22:46627961 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_005036.6(PPARA):c.315C>T (p.Cys105=) single nucleotide variant not provided [RCV000914348] Chr22:46215279 [GRCh38]
Chr22:46611176 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31(chr22:46421842-46964908)x1 copy number loss See cases [RCV001194545] Chr22:46421842..46964908 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_005036.6(PPARA):c.185G>T (p.Gly62Val) single nucleotide variant not specified [RCV004308427] Chr22:46198568 [GRCh38]
Chr22:46594465 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.993G>A (p.Leu331=) single nucleotide variant not provided [RCV000909699] Chr22:46232073 [GRCh38]
Chr22:46627970 [GRCh37]
Chr22:22q13.31
likely benign
NM_005036.6(PPARA):c.1365G>A (p.Ala455=) single nucleotide variant not provided [RCV000935128] Chr22:46235338 [GRCh38]
Chr22:46631235 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_005036.6(PPARA):c.634G>A (p.Glu212Lys) single nucleotide variant not provided [RCV001456125]|not specified [RCV004038551] Chr22:46219937 [GRCh38]
Chr22:46615834 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_005036.6(PPARA):c.185G>A (p.Gly62Asp) single nucleotide variant not specified [RCV005260794] Chr22:46198568 [GRCh38]
Chr22:46594465 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660) copy number loss not specified [RCV002052758] Chr22:43451316..46662660 [GRCh37]
Chr22:22q13.2-13.31
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_005036.6(PPARA):c.43G>C (p.Glu15Gln) single nucleotide variant not specified [RCV004080914] Chr22:46198426 [GRCh38]
Chr22:46594323 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.656A>G (p.Asn219Ser) single nucleotide variant not specified [RCV004078694] Chr22:46219959 [GRCh38]
Chr22:46615856 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.422G>A (p.Arg141His) single nucleotide variant not specified [RCV004075845] Chr22:46218315 [GRCh38]
Chr22:46614212 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.601G>A (p.Ala201Thr) single nucleotide variant not specified [RCV004168651] Chr22:46219904 [GRCh38]
Chr22:46615801 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.1349C>T (p.Thr450Met) single nucleotide variant not specified [RCV004097891] Chr22:46235322 [GRCh38]
Chr22:46631219 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.440A>G (p.Lys147Arg) single nucleotide variant not specified [RCV004274747] Chr22:46218333 [GRCh38]
Chr22:46614230 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.871G>A (p.Ala291Thr) single nucleotide variant not specified [RCV004277594] Chr22:46231951 [GRCh38]
Chr22:46627848 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.1207G>A (p.Gly403Ser) single nucleotide variant not specified [RCV004278711] Chr22:46235180 [GRCh38]
Chr22:46631077 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.557C>T (p.Ala186Val) single nucleotide variant not specified [RCV004273002] Chr22:46219860 [GRCh38]
Chr22:46615757 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.397A>G (p.Lys133Glu) single nucleotide variant not specified [RCV005260793] Chr22:46218290 [GRCh38]
Chr22:46614187 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1 copy number loss not specified [RCV003986192] Chr22:43920110..46548382 [GRCh37]
Chr22:22q13.2-13.31
likely pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_005036.6(PPARA):c.197C>T (p.Ser66Leu) single nucleotide variant not specified [RCV004514872] Chr22:46198580 [GRCh38]
Chr22:46594477 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.39A>G (p.Pro13=) single nucleotide variant PPARA-related disorder [RCV003946985] Chr22:46198422 [GRCh38]
Chr22:46594319 [GRCh37]
Chr22:22q13.31
likely benign
NM_005036.6(PPARA):c.803C>T (p.Ala268Val) single nucleotide variant PPARA-related disorder [RCV003917352] Chr22:46231883 [GRCh38]
Chr22:46627780 [GRCh37]
Chr22:22q13.31
likely benign
NM_005036.6(PPARA):c.443A>G (p.Lys148Arg) single nucleotide variant not specified [RCV004514873] Chr22:46218336 [GRCh38]
Chr22:46614233 [GRCh37]
Chr22:22q13.31
uncertain significance
NC_000022.10:g.(?_45958792)_(46971995_?)del deletion not provided [RCV004579284] Chr22:45958792..46971995 [GRCh37]
Chr22:22q13.31
pathogenic
NM_005036.6(PPARA):c.977A>G (p.Asn326Ser) single nucleotide variant not specified [RCV004664779] Chr22:46232057 [GRCh38]
Chr22:46627954 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.19C>G (p.Pro7Ala) single nucleotide variant not specified [RCV004656054] Chr22:46198402 [GRCh38]
Chr22:46594299 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.524G>A (p.Arg175Gln) single nucleotide variant not specified [RCV004656055] Chr22:46219827 [GRCh38]
Chr22:46615724 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43451317-50307583)x1 copy number loss not provided [RCV004819399] Chr22:43451317..50307583 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_005036.6(PPARA):c.571T>A (p.Cys191Ser) single nucleotide variant not specified [RCV004853196] Chr22:46219874 [GRCh38]
Chr22:46615771 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.61A>G (p.Ser21Gly) single nucleotide variant not specified [RCV004853197] Chr22:46198444 [GRCh38]
Chr22:46594341 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.173G>A (p.Gly58Glu) single nucleotide variant not specified [RCV004853193] Chr22:46198556 [GRCh38]
Chr22:46594453 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_005036.6(PPARA):c.37C>A (p.Pro13Thr) single nucleotide variant not specified [RCV004853194] Chr22:46198420 [GRCh38]
Chr22:46594317 [GRCh37]
Chr22:22q13.31
uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR519Dhsa-miR-519d-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20057369
MIR10Bhsa-miR-10b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19780876
MIR21hsa-miR-21-5pMirtarbaseexternal_infoLuciferase reporter assay//Flow//ImmunoprecipitaioFunctional MTI21636785
MIR21hsa-miR-21-5pMirecordsexternal_infoNANA20693317
MIR22hsa-miR-22-3pMirtarbaseexternal_infoWestern blotFunctional MTI18347104
MIR22hsa-miR-22-3pMirecordsexternal_infoNANA19011694
MIR141hsa-miR-141-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22479552
MIR506hsa-miR-506-3pOncomiRDBexternal_infoNANA22036718

Predicted Target Of
Summary Value
Count of predictions:12727
Count of miRNA genes:1446
Interacting mature miRNAs:1952
Transcripts:ENST00000262735, ENST00000396000, ENST00000402126, ENST00000407236, ENST00000415785, ENST00000420804, ENST00000434345, ENST00000440343, ENST00000460086, ENST00000481567, ENST00000484619, ENST00000493286, ENST00000496865
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
597596255GWAS1653115_Heosinophil count QTL GWAS1653115 (human)2e-19eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224621947946219480Human
407048192GWAS697168_Hlow density lipoprotein cholesterol measurement QTL GWAS697168 (human)3e-08blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)224623170646231707Human
597579931GWAS1636791_Heosinophil count QTL GWAS1636791 (human)8e-20eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224622838946228390Human
597257745GWAS1353819_Htotal cholesterol measurement QTL GWAS1353819 (human)2e-16blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)224622800846228009Human
597118623GWAS1214697_HIGF-1 measurement QTL GWAS1214697 (human)3e-10IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)224623188346231884Human
597034140GWAS1130214_Htriglyceride measurement QTL GWAS1130214 (human)2e-13triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)224622397346223974Human
597053530GWAS1149604_Heosinophil count QTL GWAS1149604 (human)2e-16eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224621947946219480Human
597224852GWAS1320926_Halkaline phosphatase measurement QTL GWAS1320926 (human)7e-12blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)224623188346231884Human
597347415GWAS1443489_Hbody fat percentage QTL GWAS1443489 (human)1e-11body fat mass (VT:0010482)body fat percentage (CMO:0000302)224622800846228009Human
597115929GWAS1212003_Helectroencephalogram measurement QTL GWAS1212003 (human)0.000002electroencephalogram measurementbrain activity measurement (CMO:0001737)224618694146186942Human
597266967GWAS1363041_Heosinophil count QTL GWAS1363041 (human)2e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224622800846228009Human
597259978GWAS1356052_Htotal cholesterol measurement QTL GWAS1356052 (human)1e-13blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)224622800846228009Human
597609546GWAS1666406_Hbody weight QTL GWAS1666406 (human)4e-15body mass (VT:0001259)body weight (CMO:0000012)224621947946219480Human
597095619GWAS1191693_Htestosterone measurement QTL GWAS1191693 (human)5e-14blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)224624107946241080Human
597114113GWAS1210187_Hbehavioural disinhibition measurement QTL GWAS1210187 (human)5e-08behavior trait (VT:0010442)224622331946223320Human
597156801GWAS1252875_Htestosterone measurement QTL GWAS1252875 (human)2e-08blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)224623788546237886Human
597329153GWAS1425227_Hbody mass index QTL GWAS1425227 (human)2e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)224621947946219480Human
597106252GWAS1202326_Htestosterone measurement QTL GWAS1202326 (human)5e-11blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)224623788546237886Human
597143498GWAS1239572_Htriglyceride measurement QTL GWAS1239572 (human)2e-08triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)224621998346219984Human
407040863GWAS689839_Hvery long-chain saturated fatty acid measurement QTL GWAS689839 (human)0.000001fatty acid amount (VT:0010046)224623669246236693Human
597595008GWAS1651868_Heosinophil count QTL GWAS1651868 (human)1e-27eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224621947946219480Human
597168121GWAS1264195_Halkaline phosphatase measurement QTL GWAS1264195 (human)1e-09blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)224623188346231884Human
597054708GWAS1150782_Heosinophil count QTL GWAS1150782 (human)5e-22eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224621947946219480Human
597339449GWAS1435523_Hdiastolic blood pressure QTL GWAS1435523 (human)0.0000006arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)224618125446181255Human
597607805GWAS1664665_Hbody weight QTL GWAS1664665 (human)5e-12body mass (VT:0001259)body weight (CMO:0000012)224621947946219480Human
597586043GWAS1642903_Heosinophil count QTL GWAS1642903 (human)4e-16eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224621947946219480Human
597287484GWAS1383558_Heosinophil count QTL GWAS1383558 (human)2e-13eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224624226246242263Human
597119280GWAS1215354_Halkaline phosphatase measurement QTL GWAS1215354 (human)6e-15blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)224623188346231884Human
597228272GWAS1324346_Hprotein measurement QTL GWAS1324346 (human)3e-08protein amount (VT:0010120)224617775446177755Human
597315954GWAS1412028_Htriglyceride measurement QTL GWAS1412028 (human)1e-13triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)224622352246223523Human
407109805GWAS758781_Heosinophil count QTL GWAS758781 (human)8e-15eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224621947946219480Human
596977916GWAS1097435_Hbody height QTL GWAS1097435 (human)1e-14body height224621947946219480Human
597147710GWAS1243784_Htriglyceride measurement QTL GWAS1243784 (human)5e-09triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)224624135746241358Human
597308336GWAS1404410_HBMI-adjusted hip circumference QTL GWAS1404410 (human)7e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)224621947946219480Human
406939053GWAS588029_Heosinophil percentage of leukocytes QTL GWAS588029 (human)3e-21eosinophil quantity (VT:0002602)blood eosinophil count to total leukocyte count ratio (CMO:0000369)224621947946219480Human
597314807GWAS1410881_Htriglyceride measurement QTL GWAS1410881 (human)6e-11triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)224622574946225750Human
597096827GWAS1192901_Htestosterone measurement QTL GWAS1192901 (human)2e-22blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)224623788546237886Human
597323188GWAS1419262_Hbody surface area QTL GWAS1419262 (human)1e-11body surface area224621947946219480Human
597269943GWAS1366017_Htriglyceride measurement QTL GWAS1366017 (human)3e-16triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)224622800846228009Human
407047852GWAS696828_Htotal cholesterol measurement QTL GWAS696828 (human)1e-08blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)224623170646231707Human
597110759GWAS1206833_Htype 2 diabetes mellitus QTL GWAS1206833 (human)0.000004type 2 diabetes mellitus224621512946215130Human
597194984GWAS1291058_Hfree androgen index QTL GWAS1291058 (human)1e-13free androgen index224623788546237886Human
597157285GWAS1253359_Htestosterone measurement QTL GWAS1253359 (human)1e-14blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)224623788546237886Human
597323049GWAS1419123_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1419123 (human)7e-10blood non-HDL cholesterol amount (VT:0010474)blood non-high density lipoprotein cholesterol level (CMO:0003967)224624107946241080Human
597594795GWAS1651655_Heosinophil count QTL GWAS1651655 (human)3e-34eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)224621947946219480Human
597147296GWAS1243370_Hlow density lipoprotein cholesterol measurement QTL GWAS1243370 (human)1e-09blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)224621677546216776Human
597193120GWAS1289194_Htestosterone measurement QTL GWAS1289194 (human)7e-15blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)224623788546237886Human
596953002GWAS1072521_Heosinophil count QTL GWAS1072521 (human)5e-22eosinophil count224621947946219480Human

Markers in Region
SHGC-32144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,639,529 - 46,639,629UniSTSGRCh37
Build 362245,018,193 - 45,018,293RGDNCBI36
Celera2230,546,914 - 30,547,014RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,583,563 - 29,583,663UniSTS
Stanford-G3 RH Map221529.0UniSTS
GeneMap99-GB4 RH Map22153.15UniSTS
Whitehead-RH Map22174.2UniSTS
NCBI RH Map22220.4UniSTS
GeneMap99-G3 RH Map221529.0UniSTS
RH27889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,631,304 - 46,631,412UniSTSGRCh37
Build 362245,009,968 - 45,010,076RGDNCBI36
Celera2230,538,691 - 30,538,799RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,575,340 - 29,575,448UniSTS
Cda02e06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,639,940 - 46,640,086UniSTSGRCh37
Build 362245,018,604 - 45,018,750RGDNCBI36
Celera2230,547,325 - 30,547,471RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,583,974 - 29,584,120UniSTS
D22S1562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,637,584 - 46,637,724UniSTSGRCh37
Build 362245,016,248 - 45,016,388RGDNCBI36
Celera2230,544,971 - 30,545,111RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,581,620 - 29,581,760UniSTS
G20431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,639,375 - 46,639,596UniSTSGRCh37
Build 362245,018,039 - 45,018,260RGDNCBI36
Celera2230,546,760 - 30,546,981RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,583,409 - 29,583,630UniSTS
A005R09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,639,375 - 46,639,596UniSTSGRCh37
Build 362245,018,039 - 45,018,260RGDNCBI36
Celera2230,546,760 - 30,546,981RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,583,409 - 29,583,630UniSTS
GeneMap99-GB4 RH Map22153.52UniSTS
NCBI RH Map22221.4UniSTS
A009O07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,613,075 - 46,613,183UniSTSGRCh37
Build 362244,991,739 - 44,991,847RGDNCBI36
Celera2230,520,463 - 30,520,571RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,557,107 - 29,557,215UniSTS
GeneMap99-GB4 RH Map22153.52UniSTS
NCBI RH Map22221.4UniSTS
D22S1586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,638,570 - 46,638,972UniSTSGRCh37
Build 362245,017,234 - 45,017,636RGDNCBI36
Celera2230,545,957 - 30,546,357RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,582,606 - 29,583,006UniSTS
WI-11293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,637,142 - 46,637,266UniSTSGRCh37
Build 362245,015,806 - 45,015,930RGDNCBI36
Celera2230,544,529 - 30,544,653RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,581,178 - 29,581,302UniSTS
GeneMap99-GB4 RH Map22153.52UniSTS
Whitehead-RH Map22179.9UniSTS
NCBI RH Map22236.0UniSTS
RH45682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,631,649 - 46,631,826UniSTSGRCh37
Build 362245,010,313 - 45,010,490RGDNCBI36
Celera2230,539,036 - 30,539,213RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,575,685 - 29,575,862UniSTS
GeneMap99-GB4 RH Map22153.52UniSTS
NCBI RH Map22221.4UniSTS
WI-17171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,613,037 - 46,613,186UniSTSGRCh37
Build 362244,991,701 - 44,991,850RGDNCBI36
Celera2230,520,425 - 30,520,574RGD
Cytogenetic Map22q13.31UniSTS
HuRef2229,557,069 - 29,557,218UniSTS
GeneMap99-GB4 RH Map22153.2UniSTS
Whitehead-RH Map22179.4UniSTS
PPARA_2988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,630,990 - 46,631,606UniSTSGRCh37
Build 362245,009,654 - 45,010,270RGDNCBI36
Celera2230,538,377 - 30,538,993RGD
HuRef2229,575,026 - 29,575,642UniSTS
RH80031  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8q21.3UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1p36.12-p35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic MapXq21.2UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
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Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G32699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,613,075 - 46,613,183UniSTSGRCh37
Celera2230,520,463 - 30,520,571UniSTS
Cytogenetic Map22q13.31UniSTS
HuRef2229,557,107 - 29,557,215UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4973 1726 2351 6 624 1950 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB307690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF018254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF270490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH015906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL078611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU099251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU104848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX522244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY206718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP253825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ024839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU395809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU650667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FP325332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI519550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ692862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY113201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L02932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S74349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z94161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262735   ⟹   ENSP00000262735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,150,596 - 46,243,756 (+)Ensembl
Ensembl Acc Id: ENST00000402126   ⟹   ENSP00000385246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,151,958 - 46,235,403 (+)Ensembl
Ensembl Acc Id: ENST00000407236   ⟹   ENSP00000385523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,150,526 - 46,243,755 (+)Ensembl
Ensembl Acc Id: ENST00000415785   ⟹   ENSP00000411677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,150,552 - 46,198,591 (+)Ensembl
Ensembl Acc Id: ENST00000420804   ⟹   ENSP00000414752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,150,606 - 46,215,364 (+)Ensembl
Ensembl Acc Id: ENST00000440343   ⟹   ENSP00000397291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,150,521 - 46,198,410 (+)Ensembl
Ensembl Acc Id: ENST00000460086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,150,828 - 46,151,970 (+)Ensembl
Ensembl Acc Id: ENST00000481567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,171,332 - 46,198,410 (+)Ensembl
Ensembl Acc Id: ENST00000484619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,171,284 - 46,198,410 (+)Ensembl
Ensembl Acc Id: ENST00000493286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,176,766 - 46,220,657 (+)Ensembl
Ensembl Acc Id: ENST00000496865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,151,886 - 46,156,593 (+)Ensembl
Ensembl Acc Id: ENST00000624793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,154,997 - 46,156,552 (+)Ensembl
RefSeq Acc Id: NM_001001928   ⟹   NP_001001928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,755 (+)NCBI
GRCh372246,546,458 - 46,639,653 (+)NCBI
Build 362244,925,163 - 45,018,317 (+)NCBI Archive
HuRef2229,490,745 - 29,583,687 (+)ENTREZGENE
CHM1_12246,506,503 - 46,598,389 (+)NCBI
T2T-CHM13v2.02246,635,225 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001001929   ⟹   NP_001001929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,171,284 - 46,243,756 (+)NCBI
T2T-CHM13v2.02246,655,980 - 46,728,457 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362872   ⟹   NP_001349801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,755 (+)NCBI
T2T-CHM13v2.02246,635,225 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362873   ⟹   NP_001349802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,788 - 46,243,755 (+)NCBI
T2T-CHM13v2.02246,635,487 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393941   ⟹   NP_001380870
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,755 (+)NCBI
T2T-CHM13v2.02246,635,225 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393942   ⟹   NP_001380871
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,755 (+)NCBI
T2T-CHM13v2.02246,635,225 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393943   ⟹   NP_001380872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,788 - 46,243,755 (+)NCBI
T2T-CHM13v2.02246,635,487 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393944   ⟹   NP_001380873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,788 - 46,243,755 (+)NCBI
T2T-CHM13v2.02246,635,487 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393945   ⟹   NP_001380874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,788 - 46,243,755 (+)NCBI
T2T-CHM13v2.02246,635,487 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393946   ⟹   NP_001380875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,755 (+)NCBI
T2T-CHM13v2.02246,635,225 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393947   ⟹   NP_001380876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,755 (+)NCBI
T2T-CHM13v2.02246,635,225 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005036   ⟹   NP_005027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,755 (+)NCBI
GRCh372246,546,458 - 46,639,653 (+)NCBI
Build 362244,925,163 - 45,018,317 (+)NCBI Archive
HuRef2229,490,745 - 29,583,687 (+)ENTREZGENE
CHM1_12246,506,503 - 46,598,389 (+)NCBI
T2T-CHM13v2.02246,635,225 - 46,728,456 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530239   ⟹   XP_011528541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,756 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530240   ⟹   XP_011528542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,756 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028839   ⟹   XP_016884328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,198,490 - 46,243,756 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441420   ⟹   XP_047297376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,756 (+)NCBI
RefSeq Acc Id: XM_047441421   ⟹   XP_047297377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,756 (+)NCBI
RefSeq Acc Id: XM_047441422   ⟹   XP_047297378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,756 (+)NCBI
RefSeq Acc Id: XM_047441423   ⟹   XP_047297379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,756 (+)NCBI
RefSeq Acc Id: XM_047441424   ⟹   XP_047297380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,243,756 (+)NCBI
RefSeq Acc Id: XM_047441425   ⟹   XP_047297381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,171,284 - 46,243,756 (+)NCBI
RefSeq Acc Id: XM_047441426   ⟹   XP_047297382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,171,284 - 46,243,756 (+)NCBI
RefSeq Acc Id: XM_047441427   ⟹   XP_047297383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,198,490 - 46,243,756 (+)NCBI
RefSeq Acc Id: XM_047441428   ⟹   XP_047297384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,232,083 (+)NCBI
RefSeq Acc Id: XM_047441429   ⟹   XP_047297385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,219,941 (+)NCBI
RefSeq Acc Id: XM_047441430   ⟹   XP_047297386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,231,906 (+)NCBI
RefSeq Acc Id: XM_054325737   ⟹   XP_054181712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325738   ⟹   XP_054181713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325739   ⟹   XP_054181714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325740   ⟹   XP_054181715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325741   ⟹   XP_054181716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325742   ⟹   XP_054181717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325743   ⟹   XP_054181718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325744   ⟹   XP_054181719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,655,980 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325745   ⟹   XP_054181720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,655,980 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325746   ⟹   XP_054181721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,683,190 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325747   ⟹   XP_054181722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,683,190 - 46,728,457 (+)NCBI
RefSeq Acc Id: XM_054325748   ⟹   XP_054181723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,716,789 (+)NCBI
RefSeq Acc Id: XM_054325749   ⟹   XP_054181724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,704,646 (+)NCBI
RefSeq Acc Id: XM_054325750   ⟹   XP_054181725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,635,225 - 46,716,612 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001001928 (Get FASTA)   NCBI Sequence Viewer  
  NP_001001929 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349801 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349802 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380870 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380871 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380872 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380873 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380874 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380875 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380876 (Get FASTA)   NCBI Sequence Viewer  
  NP_005027 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528541 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528542 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884328 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297376 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297377 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297378 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297379 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297380 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297381 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297382 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297383 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297384 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297385 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297386 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181712 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181713 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181714 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181715 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181716 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181717 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181718 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181719 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181720 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181721 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181722 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181723 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181724 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181725 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36468 (Get FASTA)   NCBI Sequence Viewer  
  AAB32649 (Get FASTA)   NCBI Sequence Viewer  
  AAO13489 (Get FASTA)   NCBI Sequence Viewer  
  AAO89521 (Get FASTA)   NCBI Sequence Viewer  
  AAO89522 (Get FASTA)   NCBI Sequence Viewer  
  AAO89523 (Get FASTA)   NCBI Sequence Viewer  
  AAO89524 (Get FASTA)   NCBI Sequence Viewer  
  AAO89525 (Get FASTA)   NCBI Sequence Viewer  
  AAO89526 (Get FASTA)   NCBI Sequence Viewer  
  ABI52417 (Get FASTA)   NCBI Sequence Viewer  
  ABI52418 (Get FASTA)   NCBI Sequence Viewer  
  ABI52419 (Get FASTA)   NCBI Sequence Viewer  
  ABI52420 (Get FASTA)   NCBI Sequence Viewer  
  ABI52421 (Get FASTA)   NCBI Sequence Viewer  
  ABI52422 (Get FASTA)   NCBI Sequence Viewer  
  ABY73535 (Get FASTA)   NCBI Sequence Viewer  
  ACD12656 (Get FASTA)   NCBI Sequence Viewer  
  ADZ17373 (Get FASTA)   NCBI Sequence Viewer  
  BAF82510 (Get FASTA)   NCBI Sequence Viewer  
  BAG34887 (Get FASTA)   NCBI Sequence Viewer  
  BAH02281 (Get FASTA)   NCBI Sequence Viewer  
  CAA68898 (Get FASTA)   NCBI Sequence Viewer  
  CAA76112 (Get FASTA)   NCBI Sequence Viewer  
  CAD55571 (Get FASTA)   NCBI Sequence Viewer  
  CAG30433 (Get FASTA)   NCBI Sequence Viewer  
  CAG33716 (Get FASTA)   NCBI Sequence Viewer  
  CAI22450 (Get FASTA)   NCBI Sequence Viewer  
  CAQ09265 (Get FASTA)   NCBI Sequence Viewer  
  CAQ09266 (Get FASTA)   NCBI Sequence Viewer  
  CAQ09267 (Get FASTA)   NCBI Sequence Viewer  
  CBX54356 (Get FASTA)   NCBI Sequence Viewer  
  EAW73402 (Get FASTA)   NCBI Sequence Viewer  
  EAW73403 (Get FASTA)   NCBI Sequence Viewer  
  EAW73404 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000385246
  ENSP00000385246.1
  ENSP00000385523
  ENSP00000385523.1
GenBank Protein Q07869 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005027   ⟸   NM_005036
- Peptide Label: isoform 1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001001928   ⟸   NM_001001928
- Peptide Label: isoform 1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528542   ⟸   XM_011530240
- Peptide Label: isoform X1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528541   ⟸   XM_011530239
- Peptide Label: isoform X1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884328   ⟸   XM_017028839
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001349801   ⟸   NM_001362872
- Peptide Label: isoform 1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349802   ⟸   NM_001362873
- Peptide Label: isoform 1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000411677   ⟸   ENST00000415785
Ensembl Acc Id: ENSP00000397291   ⟸   ENST00000440343
Ensembl Acc Id: ENSP00000385246   ⟸   ENST00000402126
Ensembl Acc Id: ENSP00000385523   ⟸   ENST00000407236
Ensembl Acc Id: ENSP00000262735   ⟸   ENST00000262735
Ensembl Acc Id: ENSP00000414752   ⟸   ENST00000420804
RefSeq Acc Id: NP_001380875   ⟸   NM_001393946
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001380871   ⟸   NM_001393942
- Peptide Label: isoform 1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001380876   ⟸   NM_001393947
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001380870   ⟸   NM_001393941
- Peptide Label: isoform 1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001380872   ⟸   NM_001393943
- Peptide Label: isoform 1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001380874   ⟸   NM_001393945
- Peptide Label: isoform 1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001380873   ⟸   NM_001393944
- Peptide Label: isoform 1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001001929   ⟸   NM_001001929
- Peptide Label: isoform 1
- UniProtKB: Q92486 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297376   ⟸   XM_047441420
- Peptide Label: isoform X1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297377   ⟸   XM_047441421
- Peptide Label: isoform X1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297379   ⟸   XM_047441423
- Peptide Label: isoform X1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297380   ⟸   XM_047441424
- Peptide Label: isoform X1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297378   ⟸   XM_047441422
- Peptide Label: isoform X1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297384   ⟸   XM_047441428
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047297386   ⟸   XM_047441430
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047297385   ⟸   XM_047441429
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047297381   ⟸   XM_047441425
- Peptide Label: isoform X1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297382   ⟸   XM_047441426
- Peptide Label: isoform X1
- UniProtKB: Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   Q9Y3N1 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297383   ⟸   XM_047441427
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054181714   ⟸   XM_054325739
- Peptide Label: isoform X1
- UniProtKB: Q9Y3N1 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181715   ⟸   XM_054325740
- Peptide Label: isoform X1
- UniProtKB: Q9Y3N1 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181717   ⟸   XM_054325742
- Peptide Label: isoform X1
- UniProtKB: Q9Y3N1 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181718   ⟸   XM_054325743
- Peptide Label: isoform X1
- UniProtKB: Q9Y3N1 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181716   ⟸   XM_054325741
- Peptide Label: isoform X1
- UniProtKB: Q9Y3N1 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181712   ⟸   XM_054325737
- Peptide Label: isoform X1
- UniProtKB: Q9Y3N1 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181713   ⟸   XM_054325738
- Peptide Label: isoform X1
- UniProtKB: Q9Y3N1 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181723   ⟸   XM_054325748
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054181725   ⟸   XM_054325750
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054181724   ⟸   XM_054325749
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054181719   ⟸   XM_054325744
- Peptide Label: isoform X1
- UniProtKB: Q9Y3N1 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181720   ⟸   XM_054325745
- Peptide Label: isoform X1
- UniProtKB: Q9Y3N1 (UniProtKB/Swiss-Prot),   Q92689 (UniProtKB/Swiss-Prot),   Q92486 (UniProtKB/Swiss-Prot),   Q6I9S0 (UniProtKB/Swiss-Prot),   Q16241 (UniProtKB/Swiss-Prot),   Q07869 (UniProtKB/Swiss-Prot),   B0G0X3 (UniProtKB/Swiss-Prot),   F1D8S4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181721   ⟸   XM_054325746
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054181722   ⟸   XM_054325747
- Peptide Label: isoform X3
Protein Domains
NR LBD   Nuclear receptor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q07869-F1-model_v2 AlphaFold Q07869 1-468 view protein structure

Promoters
RGD ID:6800246
Promoter ID:HG_KWN:43247
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000406390,   NM_001001928,   NM_005036,   OTTHUMT00000318747,   OTTHUMT00000318748,   OTTHUMT00000318749,   OTTHUMT00000318764,   UC010HAB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362244,924,136 - 44,925,737 (+)MPROMDB
RGD ID:6800244
Promoter ID:HG_KWN:43248
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:ENST00000407236,   OTTHUMT00000318765
Position:
Human AssemblyChrPosition (strand)Source
Build 362244,925,751 - 44,926,407 (+)MPROMDB
RGD ID:6815416
Promoter ID:HG_MRA:10667
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AF018254,   AK024738,   BC004162
Position:
Human AssemblyChrPosition (strand)Source
Build 362245,009,666 - 45,010,166 (+)MPROMDB
RGD ID:13604432
Promoter ID:EPDNEW_H28400
Type:initiation region
Name:PPARA_4
Description:peroxisome proliferator activated receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28401  EPDNEW_H28402  EPDNEW_H28404  EPDNEW_H28403  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,259 - 46,150,319EPDNEW
RGD ID:13604434
Promoter ID:EPDNEW_H28401
Type:initiation region
Name:PPARA_1
Description:peroxisome proliferator activated receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28400  EPDNEW_H28402  EPDNEW_H28404  EPDNEW_H28403  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,526 - 46,150,586EPDNEW
RGD ID:13604436
Promoter ID:EPDNEW_H28402
Type:initiation region
Name:PPARA_5
Description:peroxisome proliferator activated receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28400  EPDNEW_H28401  EPDNEW_H28404  EPDNEW_H28403  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,150,768 - 46,150,828EPDNEW
RGD ID:13604440
Promoter ID:EPDNEW_H28403
Type:multiple initiation site
Name:PPARA_2
Description:peroxisome proliferator activated receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28400  EPDNEW_H28401  EPDNEW_H28402  EPDNEW_H28404  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,154,984 - 46,155,044EPDNEW
RGD ID:13604438
Promoter ID:EPDNEW_H28404
Type:initiation region
Name:PPARA_3
Description:peroxisome proliferator activated receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28400  EPDNEW_H28401  EPDNEW_H28402  EPDNEW_H28403  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,171,284 - 46,171,344EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9232 AgrOrtholog
COSMIC PPARA COSMIC
Ensembl Genes ENSG00000186951 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000402126 ENTREZGENE
  ENST00000402126.2 UniProtKB/Swiss-Prot
  ENST00000407236 ENTREZGENE
  ENST00000407236.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.565.10 UniProtKB/Swiss-Prot
  3.30.50.10 UniProtKB/Swiss-Prot
GTEx ENSG00000186951 GTEx
HGNC ID HGNC:9232 ENTREZGENE
Human Proteome Map PPARA Human Proteome Map
InterPro 1Cnucl_rcpt UniProtKB/Swiss-Prot
  NHR-like_dom_sf UniProtKB/Swiss-Prot
  Nucl_hrmn_rcpt_lig-bd UniProtKB/Swiss-Prot
  Nuclear_hormone_rcpt_NR1 UniProtKB/Swiss-Prot
  Nuclear_hrmn_rcpt UniProtKB/Swiss-Prot
  PPAR-alpha UniProtKB/Swiss-Prot
  Znf_hrmn_rcpt UniProtKB/Swiss-Prot
  Znf_NHR/GATA UniProtKB/Swiss-Prot
KEGG Report hsa:5465 UniProtKB/Swiss-Prot
NCBI Gene 5465 ENTREZGENE
OMIM 170998 OMIM
PANTHER NUCLEAR HORMONE RECEPTOR UniProtKB/Swiss-Prot
  PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR ALPHA UniProtKB/Swiss-Prot
Pfam Hormone_recep UniProtKB/Swiss-Prot
  zf-C4 UniProtKB/Swiss-Prot
PharmGKB PA280 PharmGKB, RGD
PRINTS PROXISOMEPAR UniProtKB/Swiss-Prot
  PROXISOMPAAR UniProtKB/Swiss-Prot
  STRDHORMONER UniProtKB/Swiss-Prot
  STROIDFINGER UniProtKB/Swiss-Prot
PROSITE NR_LBD UniProtKB/Swiss-Prot
  NUCLEAR_REC_DBD_1 UniProtKB/Swiss-Prot
  NUCLEAR_REC_DBD_2 UniProtKB/Swiss-Prot
SMART HOLI UniProtKB/Swiss-Prot
  ZnF_C4 UniProtKB/Swiss-Prot
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot
  SSF48508 UniProtKB/Swiss-Prot
UniProt B0G0X3 ENTREZGENE
  B0QYX1_HUMAN UniProtKB/TrEMBL
  B0QYX2_HUMAN UniProtKB/TrEMBL
  F1D8S4 ENTREZGENE, UniProtKB/TrEMBL
  L8E859_HUMAN UniProtKB/TrEMBL
  PPARA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16241 ENTREZGENE
  Q6I9S0 ENTREZGENE
  Q86SF0_HUMAN UniProtKB/TrEMBL
  Q92486 ENTREZGENE
  Q92689 ENTREZGENE
  Q9Y3N1 ENTREZGENE
UniProt Secondary B0G0X3 UniProtKB/Swiss-Prot
  Q16241 UniProtKB/Swiss-Prot
  Q6I9S0 UniProtKB/Swiss-Prot
  Q92486 UniProtKB/Swiss-Prot
  Q92689 UniProtKB/Swiss-Prot
  Q9Y3N1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 PPARA  peroxisome proliferator activated receptor alpha  PPARA  peroxisome proliferator-activated receptor alpha  Symbol and/or name change 5135510 APPROVED