CYP2E1 (cytochrome P450 family 2 subfamily E member 1) - Rat Genome Database

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Gene: CYP2E1 (cytochrome P450 family 2 subfamily E member 1) Homo sapiens
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Symbol: CYP2E1
Name: cytochrome P450 family 2 subfamily E member 1
RGD ID: 1345007
HGNC Page HGNC:2631
Description: Enables several functions, including 4-nitrophenol 2-monooxygenase activity; heme binding activity; and long-chain fatty acid omega-1 hydroxylase activity. Involved in several processes, including 4-nitrophenol metabolic process; lipid hydroxylation; and monoterpenoid metabolic process. Predicted to be located in mitochondrial inner membrane. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. Implicated in acoustic neuroma; gastrointestinal system cancer (multiple); high grade glioma; liver disease (multiple); and lung disease (multiple). Biomarker of alcohol use disorder; asthma; diabetes mellitus (multiple); interstitial lung disease (multiple); and morbid obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 4-nitrophenol 2-hydroxylase; CPE1; CYP2E; CYPIIE1; cytochrome P450 2E1; cytochrome P450, family 2, subfamily E, polypeptide 1; cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1; cytochrome P450-J; flavoprotein-linked monooxygenase; microsomal monooxygenase; P450-J; P450C2E; xenobiotic monooxygenase
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
GRCh3810133,527,363 - 133,539,123 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10133,520,406 - 133,561,220 (+)EnsemblGRCh38hg38GRCh38
GRCh3710135,340,867 - 135,352,627 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610135,190,857 - 135,202,610 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410135,229,747 - 135,241,501NCBI
Celera10128,168,529 - 128,180,282 (-)NCBICelera
Cytogenetic Map10q26.3NCBI
HuRef10128,882,691 - 128,894,624 (+)NCBIHuRef
CHM1_110135,620,490 - 135,632,188 (+)NCBICHM1_1
T2T-CHM13v2.010134,478,949 - 134,490,654 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acoustic neuroma  (IAGP)
acute kidney failure  (ISO)
acute lymphoblastic leukemia  (EXP)
adenocarcinoma  (EXP)
alcohol use disorder  (EXP,IEP,ISO)
Alcoholic Fatty Liver  (EXP,ISO)
alcoholic liver cirrhosis  (EXP,IMP)
Alcoholic Liver Diseases  (IEP,ISO)
amenorrhea  (IAGP)
asbestosis  (IEP)
asthma  (EXP,IEP,ISO)
Binge Drinking  (IDA,ISO)
Cardiomegaly  (EXP)
Chemical and Drug Induced Liver Injury  (EXP,IAGP,IMP,ISO)
Chronic Bronchitis  (IAGP)
chronic obstructive pulmonary disease  (IAGP)
colon cancer  (ISO)
colorectal cancer  (IAGP)
depressive disorder  (ISO)
distal 10q deletion syndrome  (IAGP)
Drug Eruptions  (EXP)
drug-induced hepatitis  (ISO)
Drug-Related Side Effects and Adverse Reactions  (EXP)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Neoplasms  (EXP)
extrinsic allergic alveolitis  (IEP)
familial hyperlipidemia  (ISO)
genetic disease  (IAGP)
hepatocellular adenoma  (ISO)
hepatocellular carcinoma  (EXP,IAGP)
high grade glioma  (IAGP)
Human Viral Hepatitis  (IAGP)
hypertrophic cardiomyopathy  (ISO)
intrahepatic cholestasis  (ISO)
liver disease  (IAGP,ISO)
Liver Injury  (ISO)
Liver Neoplasms  (EXP)
lung disease  (ISO)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (EXP)
metabolic dysfunction-associated steatotic liver disease  (EXP,ISO)
Micronuclei, Chromosome-Defective  (EXP)
middle cerebral artery infarction  (ISO)
morbid obesity  (IEP)
nasopharynx carcinoma  (IAGP)
Necrosis  (EXP)
Neoplasm Invasiveness  (EXP)
non-Hodgkin lymphoma  (EXP)
obesity  (EXP,ISO)
oral cavity cancer  (IAGP)
oral squamous cell carcinoma  (IAGP)
Parkinson's disease  (EXP)
Patent Ductus Venosus  (ISO)
pneumonia  (IAGP,ISO)
Prenatal Exposure Delayed Effects  (ISO)
Prostatic Neoplasms  (EXP)
Reperfusion Injury  (ISO)
Sepsis  (ISO)
steatotic liver disease  (EXP,IAGP,ISO)
stomach cancer  (IAGP)
Testicular Injury  (ISO)
type 1 diabetes mellitus  (IEP)
type 2 diabetes mellitus  (IEP,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-artemisinin  (ISO)
(+)-catechin  (EXP,ISO)
(+)-epicatechin-3-O-gallate  (ISO)
(+)-schisandrin B  (ISO)
(+)-taxifolin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(-)-trans-epsilon-viniferin  (EXP)
(1->4)-beta-D-glucan  (ISO)
(2-hydroxyphenyl)acetic acid  (EXP)
(R)-carnitine  (ISO)
(R)-lipoic acid  (ISO)
(R,R,R)-alpha-tocopherol  (EXP,ISO)
(S)-mandelic acid  (EXP)
(S)-naringenin  (EXP,ISO)
(S)-nicotine  (ISO)
1,1,1-Trichloro-2-(4-hydroxyphenyl)-2-(4-methoxyphenyl)ethane  (EXP)
1,1,1-trichloroethane  (EXP)
1,1-Dichloroethane  (ISO)
1,1-dichloroethene  (EXP,ISO)
1,2,3,5-tetrachlorobenzene  (EXP)
1,2,4,5-tetrachlorobenzene  (ISO)
1,2,4-trichlorobenzene  (EXP)
1,2-dibromoethane  (EXP)
1,2-dichlorobenzene  (EXP,ISO)
1,2-dichloroethane  (EXP,ISO)
1,2-dichloroethene  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
1,3,5-trimethylbenzene  (EXP)
1,4-benzoquinone  (ISO)
1,4-dichlorobenzene  (EXP,ISO)
1,4-dioxane  (ISO)
1,4-naphthoquinone  (EXP)
1-benzylpiperazine  (ISO)
1-bromopropane  (ISO)
1-Methylpyrene  (EXP)
1-naphthol  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
19(S)-HETE  (ISO)
19-HETE  (ISO)
1H-imidazole  (ISO)
1H-pyrazole  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',4,5-tetrachlorobiphenyl  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,5,6-tetrachlorophenol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-D  (ISO)
2,6-dimethylaniline  (EXP)
2,6-dimethylnaphthalene  (EXP)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-chloroethanol  (ISO)
2-naphthol  (EXP)
2-nitroanisole  (EXP,ISO)
2-nitrophenol  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (EXP)
3,4-dihydroxybenzoic acid  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-(Methylthio)-1-propene  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP,ISO)
4-hydroxy-TEMPO  (ISO)
4-methylumbelliferone  (ISO)
4-nitrocatechol  (EXP,ISO)
4-nitrophenol  (EXP,ISO)
4-Vinylcyclohexene  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5,7-dihydroxy-4'-methoxyflavone  (ISO)
5-(2-chloroethyl)-4-methylthiazole  (EXP,ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP,ISO)
5-methoxy-N,N-diisopropyltryptamine  (EXP)
5-methyltryptamine  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
6-Hydroxychlorzoxazone  (EXP,ISO)
7,12-dimethyltetraphene  (ISO)
7,8-dihydroxycoumarin  (ISO)
7-ethoxycoumarin  (EXP)
8-Br-cAMP  (EXP)
8-Epidiosbulbin E acetate  (ISO)
abamectin  (ISO)
acadesine  (ISO)
acarbose  (ISO)
acephate  (ISO)
acetaldehyde  (EXP,ISO)
acetamide  (ISO)
acetic acid  (EXP)
acetone  (EXP,ISO)
acetonitrile  (EXP,ISO)
acetylsalicylic acid  (ISO)
acrylamide  (EXP,ISO)
acrylonitrile  (EXP,ISO)
acteoside  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin G1  (EXP,ISO)
alcohol  (EXP,ISO)
aldehydo-D-glucose  (ISO)
alizarin  (EXP)
alkaloid  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
allyl alcohol  (ISO)
allyl cyanide  (ISO)
alpha-hexachlorocyclohexane  (ISO)
alpha-linolenic acid  (EXP)
alpha-methyltryptamine  (EXP)
alpha-Zearalanol  (ISO)
amiodarone  (EXP)
amitraz  (ISO)
amitrole  (EXP)
amlexanox  (ISO)
ammonium chloride  (ISO)
amodiaquine  (EXP)
amphibole asbestos  (EXP)
ampicillin  (ISO)
angelicin  (ISO)
aniline  (EXP,ISO)
anthocyanin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apigenin  (EXP,ISO)
arachidonic acid  (EXP,ISO)
arecoline  (ISO)
Aroclor 1254  (EXP,ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
asiatic acid  (ISO)
aspartame  (ISO)
atrazine  (ISO)
baicalein  (EXP)
benzene  (EXP,ISO)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (EXP)
benzylideneacetone  (ISO)
berberine  (ISO)
Besigomsin  (ISO)
beta-carboline  (EXP)
beta-naphthoflavone  (EXP,ISO)
bifenthrin  (ISO)
bilobalide  (ISO)
biotin  (EXP)
biphenyl-4-amine  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Bromadiolone  (ISO)
bromobenzene  (ISO)
bromodichloromethane  (EXP,ISO)
bromoethene  (EXP)
brucine  (ISO)
bucladesine  (EXP)
buta-1,3-diene  (EXP,ISO)
butan-2-one  (EXP)
butane-1,3-diol  (ISO)
Butylbenzyl phthalate  (ISO)
Butylparaben  (ISO)
C.I. Natural Red 20  (EXP,ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cafestol  (ISO)
caffeine  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
canadine  (ISO)
cannabidiol  (ISO)
capsaicin  (ISO)
carbamazepine  (ISO)
carbaryl  (EXP)
carbon monoxide  (EXP,ISO)
carbon nanotube  (ISO)
carnosine  (ISO)
catechol  (EXP,ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
CHIR 99021  (EXP)
chloral hydrate  (ISO)
chlordecone  (ISO)
chlorfluazuron  (EXP)
chlorobenzene  (EXP,ISO)
chloroethene  (EXP,ISO)
chloroform  (EXP)
chlorogenic acid  (ISO)
chloromethane  (EXP)
chloroprene  (ISO)
chlorpromazine  (EXP)
chlorpyrifos  (EXP)
chlorzoxazone  (EXP,ISO)
cholesterol  (ISO)
choline  (ISO)
chrysene  (ISO)
ciguatoxin CTX1B  (ISO)
cimetidine  (EXP)
ciprofibrate  (ISO)
cis-caffeic acid  (ISO)
cisplatin  (ISO)
citral  (EXP)
clofibrate  (ISO)
clothianidin  (EXP)
colforsin daropate hydrochloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
corticosterone  (EXP,ISO)
cortisol  (ISO)
coumarin  (EXP,ISO)
crocidolite asbestos  (ISO)
crocin-1  (ISO)
curcumin  (EXP,ISO)
cyanides  (ISO)
cyanocob(III)alamin  (ISO)
cyclohexanols  (ISO)
cycloheximide  (EXP,ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cyfluthrin  (ISO)
cyhalothrin  (ISO)
cylindrospermopsin  (ISO)
cypermethrin  (EXP,ISO)
cyproconazole  (EXP,ISO)
D-glucose  (ISO)
D-penicillamine  (EXP)
daidzein  (ISO)
deoxycholic acid  (ISO)
desferrioxamine B  (ISO)
desipramine  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dextromethorphan  (ISO)
diallyl disulfide  (EXP,ISO)
Diallyl sulfide  (EXP,ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
dibenz[a,h]anthracene  (EXP)
dibenziodolium  (ISO)
dibutyl phthalate  (ISO)
dichloromethane  (EXP,ISO)
diclofenac  (EXP)
dicofol  (ISO)
dicoumarol  (EXP,ISO)
diepoxybutane  (EXP)
diethyldithiocarbamic acid  (EXP,ISO)
diethylstilbestrol  (ISO)
dihydrocapsaicin  (ISO)
dihydroxyacetone  (EXP)
dimethyl sulfoxide  (EXP,ISO)
dimethylmercury  (ISO)
dioscin  (ISO)
diosmetin  (EXP)
diosmin  (ISO)
dioxygen  (EXP,ISO)
dipropyl disulfide  (EXP)
dipropyl phthalate  (ISO)
Dipropyl sulfide  (EXP)
diprotium oxide  (ISO)
disulfiram  (EXP,ISO)
dodecanoic acid  (EXP)
dopamine  (ISO)
doxorubicin  (ISO)
dronedarone  (EXP)
ebselen  (ISO)
elemental selenium  (ISO)
ellipticine  (EXP)
emamectin benzoate  (ISO)
endosulfan  (EXP,ISO)
enfuvirtide  (EXP)
enilconazole  (EXP)
epoxiconazole  (ISO)
erastin  (EXP)
Erionite  (ISO)
estragole  (EXP)
ethambutol  (EXP,ISO)
ethanol  (EXP,ISO)
ethene  (ISO)
ethosuximide  (ISO)
ethyl methanesulfonate  (EXP)
ethylbenzene  (ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
ethylenediaminetetraacetic acid  (EXP)
ethylparaben  (ISO)
eugenol  (EXP,ISO)
farnesol  (EXP,ISO)
felbamate  (EXP,ISO)
fenarimol  (ISO)
fenitrothion  (EXP)
fenofibrate  (ISO)
fentin chloride  (ISO)
fenvalerate  (EXP)
ferrostatin-1  (EXP)
fipronil  (EXP,ISO)
flavonoids  (ISO)
fluoranthene  (EXP)
fluoroethene  (EXP,ISO)
fluphenazine  (EXP)
folic acid  (ISO)
fomepizole  (EXP,ISO)
fructose  (ISO)
fucoxanthin  (ISO)
fulvestrant  (EXP)
fumaraldehyde  (ISO)
fumonisin B1  (ISO)
Furafylline  (ISO)
furan  (ISO)
gabapentin  (ISO)
gadolinium trichloride  (ISO)
gallocatechin  (ISO)
gamma-hexachlorocyclohexane  (EXP,ISO)
genistein  (ISO)
gentamycin  (ISO)
geranial  (EXP)
geraniol  (EXP,ISO)
ginsenoside Rg1  (ISO)
glafenine  (ISO)
glucose  (ISO)
glutathione  (EXP,ISO)
Glutathione ethyl ester  (EXP)
glycerol  (EXP)
glycine betaine  (EXP,ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
GW 4064  (EXP)
halothane  (EXP,ISO)
hemin  (EXP,ISO)
hesperetin  (ISO)
hexachlorobenzene  (ISO)
hexadecanoic acid  (ISO)
hexane  (EXP,ISO)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP,ISO)
Hypaconitine  (EXP)
imidacloprid  (ISO)
imidazoles  (ISO)
indole-3-methanol  (EXP,ISO)
indometacin  (ISO)
irbesartan  (ISO)
iron(III) citrate  (EXP)
iron(III) nitrilotriacetate  (EXP)
isatin  (EXP)
isobavachalcone  (ISO)
isobutyronitrile  (ISO)
isoliquiritigenin  (ISO)
isoniazide  (EXP,ISO)
isoprenaline  (ISO)
isoproturon  (EXP)
isoquinolines  (ISO)
ivermectin  (ISO)
kaempferol  (ISO)
kahweol  (ISO)
ketamine  (ISO)
ketoconazole  (EXP)
kojic acid  (ISO)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lamotrigine  (EXP)
lansoprazole  (ISO)
Lasiocarpine  (EXP)
leupeptin  (EXP)
Licochalcone A  (EXP)
linoleic acid  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
liquiritin  (ISO)
lithocholic acid  (ISO)
luteolin  (ISO)
LY294002  (ISO)
lycopene  (ISO)
m-tolualdehyde  (ISO)
m-xylene  (EXP,ISO)
malathion  (EXP)
mancozeb  (EXP)
mandelic acid  (EXP)
maneb  (ISO)
mangiferin  (ISO)
melatonin  (ISO)
menadione  (EXP,ISO)
mephenytoin  (ISO)
mercury dichloride  (ISO)
metformin  (ISO)
methamphetamine  (EXP)
methapyrilene  (EXP,ISO)
methoxsalen  (ISO)
methoxychlor  (ISO)
methoxyflurane  (EXP)
Methylacrylonitrile  (ISO)
methyltestosterone  (EXP)
metronidazole  (ISO)
microcystin-LR  (ISO)
midazolam  (EXP)
mirex  (ISO)
Monobutylphthalate  (ISO)
monocrotophos  (EXP,ISO)
monosodium L-glutamate  (ISO)
muconic acid  (EXP)
myricetin  (EXP)
myricitrin  (ISO)
N'-(2,4-dimethylphenyl)-N-methylformamidine  (ISO)
N,N-diethyl-m-toluamide  (EXP)
N,N-diisopropyltryptamine  (EXP)
N,N-dimethylformamide  (EXP,ISO)
N-acetyl-1,4-benzoquinone imine  (EXP,ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-acetyl-S-phenyl-L-cysteine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-methylformamide  (EXP,ISO)
N-Nitrosodi-n-butylamine  (EXP)
N-Nitrosodi-n-propylamine  (EXP)
N-Nitrosodiethanolamine  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (EXP,ISO)
N-Nitrosomethylethylamine  (EXP)
N-nitrosomorpholine  (EXP)
N-nitrosopiperidine  (EXP)
N-Nitrosopyrrolidine  (EXP)
NADP zwitterion  (EXP,ISO)
NADP(+)  (EXP,ISO)
naphthalene  (EXP)
nefazodone  (ISO)
Neferine  (ISO)
neobavaisoflavone  (ISO)
neomycin  (ISO)
nicotinamide  (ISO)
nicotine  (ISO)
nifedipine  (ISO)
nitric oxide  (EXP)
nitrofen  (ISO)
nitroglycerin  (ISO)
Notopterol  (EXP)
o-anisidine  (EXP)
O-methyleugenol  (EXP)
o-xylene  (EXP,ISO)
obeticholic acid  (EXP)
ochratoxin A  (EXP)
octadecanoic acid  (EXP)
okadaic acid  (ISO)
oleanolic acid  (ISO)
oleic acid  (EXP,ISO)
oltipraz  (EXP)
omeprazole  (EXP,ISO)
orphenadrine  (EXP)
oxirane  (ISO)
oxycodone  (ISO)
ozone  (ISO)
p-cresol  (EXP)
p-xylene  (EXP)
paclitaxel  (ISO)
pantoprazole  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
parathion  (EXP,ISO)
pentachlorobenzene  (EXP,ISO)
pentachlorophenol  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenacetin  (ISO)
phenanthrene  (EXP,ISO)
phenethyl caffeate  (ISO)
phenethyl isothiocyanate  (EXP,ISO)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phenol  (EXP,ISO)
phenthoate  (EXP)
phenylglyoxylic acid  (EXP)
phenytoin  (EXP,ISO)
PhIP  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phthalaldehyde  (ISO)
pioglitazone  (ISO)
piperidin-2-one  (ISO)
Pipermethystine  (ISO)
potassium dichromate  (ISO)
primaquine  (EXP)
prochloraz  (EXP)
procymidone  (ISO)
profenofos  (EXP)
progesterone  (ISO)
prop-2-yn-1-ol  (ISO)
propacetamol  (ISO)
propan-2-ol  (ISO)
propetamphos  (ISO)
propiconazole  (ISO)
propylparaben  (ISO)
psoralen  (ISO)
psoralidin  (ISO)
puerarin  (ISO)
purpurogallin  (ISO)
pyrazinecarboxamide  (ISO)
pyrazines  (ISO)
pyrene  (ISO)
pyridine  (EXP,ISO)
pyridine N-oxide  (ISO)
pyridines  (ISO)
pyrogallol  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quartz  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-galactopyranoside  (ISO)
quinacrine  (ISO)
quinidine  (ISO)
quinoline  (EXP,ISO)
quinolines  (ISO)
rac-1,2-dichloropropane  (EXP)
reactive oxygen species  (EXP,ISO)
resveratrol  (ISO)
retinyl acetate  (ISO)
Retrorsine  (ISO)
riddelliine  (ISO)
rifampicin  (EXP,ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-adenosyl-L-methioninate  (EXP,ISO)
S-adenosyl-L-methionine  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
safrole  (EXP)
Salidroside  (ISO)
salvianolic acid B  (ISO)
sanguinarine  (ISO)
satraplatin  (EXP)
SB 203580  (EXP)
SCH772984  (ISO)
selenium atom  (ISO)
senecionine  (EXP,ISO)
sevoflurane  (EXP)
Shikonin  (EXP,ISO)
silicon dioxide  (ISO)
sirolimus  (EXP)
skatole  (EXP)
sodium arsenite  (EXP,ISO)
sodium chromate  (ISO)
staurosporine  (ISO)
streptozocin  (ISO)
styrene  (EXP,ISO)
styrene oxide  (EXP)
Sudan I  (EXP)
sulforaphane  (ISO)
sunitinib  (ISO)
tamoxifen  (ISO)
taurine  (ISO)
tebuconazole  (EXP,ISO)
tenofovir disoproxil fumarate  (EXP)
tert-butyl ethyl ether  (ISO)
testosterone  (ISO)
Tetrachlorobisphenol A  (EXP)
tetrachloroethene  (EXP,ISO)
tetrachloromethane  (EXP,ISO)
tetrachlorophenol  (EXP)
tetracycline  (ISO)
tetrahydrocurcumin  (ISO)
tetraphene  (ISO)
thallium  (ISO)
theobromine  (EXP)
theophylline  (EXP,ISO)
thiacloprid  (EXP)
thiamine(1+) chloride  (ISO)
thiazoles  (ISO)
thioacetamide  (ISO)
thiophanate-methyl  (ISO)
thioridazine  (EXP)
thiostrepton  (EXP)
thiram  (ISO)
thymoquinone  (ISO)
Tiopronin  (ISO)
tirapazamine  (ISO)
titanium dioxide  (ISO)
toluene  (EXP,ISO)
trabectedin  (ISO)
trans-1,2-dichloroethene  (EXP,ISO)
trans-caffeic acid  (ISO)
trans-cinnamic acid  (EXP)
transfluthrin  (ISO)
tranylcypromine  (EXP)
triadimefon  (ISO)
trichloroacetic acid  (EXP)
trichloroethene  (EXP,ISO)
troglitazone  (ISO)
tryptamines  (EXP)
umbelliferone  (ISO)
uranium atom  (ISO)
urethane  (EXP,ISO)
ursodeoxycholic acid  (ISO)
usnic acid  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vanoxerine dihydrochloride  (EXP)
vinclozolin  (ISO)
vinyl carbamate  (EXP,ISO)
vitamin D  (ISO)
vitamin E  (EXP,ISO)
water  (ISO)
wortmannin  (EXP,ISO)
Wuweizisu C  (ISO)
XL147  (ISO)
zearalenone  (ISO)
zinc atom  (ISO)
zinc protoporphyrin  (EXP,ISO)
zinc sulfate  (EXP,ISO)
zinc(0)  (ISO)
zingerone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acetylsalicylic acid pharmacodynamics pathway  (EXP)
antipyrine drug pathway  (EXP)
arachidonic acid metabolic pathway  (EXP,IEA)
caffeine pharmacokinetics pathway  (EXP)
celecoxib pharmacodynamics pathway  (EXP)
diclofenac pharmacodynamics pathway  (EXP)
diflunisal pharmacodynamics pathway  (EXP)
disulfiram pharmacodynamics pathway  (EXP)
etodolac pharmacodynamics pathway  (EXP)
felbamate pharmacokinetics pathway  (EXP)
fenoprofen pharmacodynamics pathway  (EXP)
flurbiprofen pharmacodynamics pathway  (EXP)
ibuprofen pharmacodynamics pathway  (EXP)
indometacin pharmacodynamics pathway  (EXP)
indometacin pharmacodynamics pathway  (EXP)
ketoprofen pharmacodynamics pathway  (EXP)
ketorolac pharmacodynamics pathway  (EXP)
leukotriene C4 synthase deficiency pathway  (EXP)
linoleic acid metabolic pathway  (IEA)
lornoxicam pharmacodynamics pathway  (EXP)
magnesium salicylate pharmacodynamics pathway  (EXP)
mefenamic acid pharmacodynamics pathway  (EXP)
meloxicam pharmacodynamics pathway  (EXP)
nabumetone pharmacodynamics pathway  (EXP)
naproxen pharmacodynamics pathway   (EXP)
paracetamol drug pathway   (EXP)
paracetamol pharmacokinetics pathway   (EXP,ISO)
paracetamol response pathway  (TAS)
phenytoin pharmacodynamics pathway  (EXP)
piroxicam pharmacodynamics pathway  (EXP)
salicylic acid pharmacodynamics pathway  (EXP)
sodium salicylate pharmacodynamics pathway  (EXP)
sulindac pharmacodynamics pathway  (EXP)
tenoxicam pharmacodynamics pathway  (EXP)
tiaprofenic acid pharmacodynamics pathway  (EXP)
tolmetin pharmacodynamics pathway  (EXP)
valdecoxib pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
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2. Cytochrome P450-2E1 promotes aging-related hepatic steatosis, apoptosis and fibrosis through increased nitroxidative stress. Abdelmegeed MA, etal., Free Radic Biol Med. 2016 Feb;91:188-202. doi: 10.1016/j.freeradbiomed.2015.12.016. Epub 2015 Dec 17.
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20. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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40. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
41. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
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45. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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48. CYP2E1 testis expression and alcohol-mediated changes of rat spermatogenesis indices and type I collagen. Shayakhmetova GM, etal., Arh Hig Rada Toksikol. 2013 Jun;64(2):51-60. doi: 10.2478/10004-1254-64-2013-2313.
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51. Dietary tomato powder inhibits alcohol-induced hepatic injury by suppressing cytochrome p450 2E1 induction in rodent models. Stice CP, etal., Arch Biochem Biophys. 2015 Apr 15;572:81-88. doi: 10.1016/j.abb.2015.01.004. Epub 2015 Jan 12.
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55. SUMOylation regulates cytochrome P450 2E1 expression and activity in alcoholic liver disease. Tomasi ML, etal., FASEB J. 2018 Jun;32(6):3278-3288. doi: 10.1096/fj.201701124R. Epub 2018 Jan 18.
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58. Inhibition of cytochrome P450 2E1 and activation of transcription factor Nrf2 are renoprotective in myoglobinuric acute kidney injury. Wang Z, etal., Kidney Int. 2014 Aug;86(2):338-49. doi: 10.1038/ki.2014.65. Epub 2014 Apr 9.
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60. Cytochrome P450 2E1 is responsible for the initiation of 1,2-dichloropropane-induced liver damage. Yanagiba Y, etal., Toxicol Ind Health. 2016 Sep;32(9):1589-97. doi: 10.1177/0748233714568801. Epub 2015 Feb 13.
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68. Correlation of CpG Island Methylation of the Cytochrome P450 2E1/2D6 Genes with Liver Injury Induced by Anti-Tuberculosis Drugs: A Nested Case-Control Study. Zhang J, etal., Int J Environ Res Public Health. 2016 Aug 1;13(8). pii: ijerph13080776. doi: 10.3390/ijerph13080776.
Additional References at PubMed
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PMID:16385451   PMID:16393248   PMID:16401082   PMID:16424825   PMID:16425414   PMID:16440362   PMID:16459354   PMID:16470306   PMID:16471212   PMID:16484137   PMID:16488179   PMID:16497268  
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PMID:19575027   PMID:19625176   PMID:19643819   PMID:19651758   PMID:19655364   PMID:19686770   PMID:19692168   PMID:19706845   PMID:19751749   PMID:19761367   PMID:19786980   PMID:19789190  
PMID:19796841   PMID:19805575   PMID:19822571   PMID:19826048   PMID:19860798   PMID:19874574   PMID:19887496   PMID:19891553   PMID:19913121   PMID:19927646   PMID:19948975   PMID:19956635  
PMID:19958676   PMID:19963114   PMID:19963139   PMID:20026093   PMID:20029944   PMID:20031389   PMID:20093049   PMID:20095411   PMID:20100563   PMID:20100738   PMID:20101753   PMID:20102722  
PMID:20117323   PMID:20131310   PMID:20171022   PMID:20173083   PMID:20180013   PMID:20195803   PMID:20394984   PMID:20401433   PMID:20404016   PMID:20406102   PMID:20426969   PMID:20437058  
PMID:20453000   PMID:20463018   PMID:20511665   PMID:20529763   PMID:20554493   PMID:20556843   PMID:20576306   PMID:20598484   PMID:20602615   PMID:20628086   PMID:20634891   PMID:20637790  
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PMID:21076874   PMID:21209460   PMID:21228414   PMID:21261721   PMID:21265876   PMID:21281483   PMID:21295098   PMID:21360299   PMID:21385088   PMID:21553050   PMID:21557999   PMID:21590276  
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PMID:25454746   PMID:25501063   PMID:25514903   PMID:25544508   PMID:25654087   PMID:25771868   PMID:25872594   PMID:25917616   PMID:25963742   PMID:26125714   PMID:26179485   PMID:26199425  
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PMID:37499993   PMID:37510297   PMID:37633951   PMID:38479224  


Genomics

Comparative Map Data
CYP2E1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810133,527,363 - 133,539,123 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10133,520,406 - 133,561,220 (+)EnsemblGRCh38hg38GRCh38
GRCh3710135,340,867 - 135,352,627 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610135,190,857 - 135,202,610 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410135,229,747 - 135,241,501NCBI
Celera10128,168,529 - 128,180,282 (-)NCBICelera
Cytogenetic Map10q26.3NCBI
HuRef10128,882,691 - 128,894,624 (+)NCBIHuRef
CHM1_110135,620,490 - 135,632,188 (+)NCBICHM1_1
T2T-CHM13v2.010134,478,949 - 134,490,654 (+)NCBIT2T-CHM13v2.0
Cyp2e1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397140,343,732 - 140,354,903 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7140,343,652 - 140,354,900 (+)EnsemblGRCm39 Ensembl
GRCm387140,763,819 - 140,774,990 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7140,763,739 - 140,774,987 (+)EnsemblGRCm38mm10GRCm38
MGSCv377147,949,731 - 147,960,880 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367140,615,152 - 140,626,301 (+)NCBIMGSCv36mm8
Celera7140,556,087 - 140,567,236 (+)NCBICelera
Cytogenetic Map7F4NCBI
cM Map785.94NCBI
Cyp2e1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81205,269,967 - 205,280,365 (+)NCBIGRCr8
mRatBN7.21195,840,330 - 195,850,728 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1195,840,058 - 195,864,023 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1204,182,795 - 204,193,148 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01211,309,700 - 211,320,053 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01203,983,553 - 203,993,906 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01213,511,892 - 213,522,195 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1213,511,874 - 213,535,542 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01220,405,975 - 220,416,727 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41200,918,521 - 200,928,919 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11201,068,525 - 201,078,911 (+)NCBI
Celera1193,484,404 - 193,494,772 (+)NCBICelera
Cytogenetic Map1q41NCBI
LOC102026028
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555076,289,576 - 6,304,193 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555076,293,162 - 6,303,255 (-)NCBIChiLan1.0ChiLan1.0
CYP2E1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28145,644,624 - 145,686,410 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110145,649,978 - 145,691,767 (+)NCBINHGRI_mPanPan1
PanPan1.110134,839,025 - 134,852,053 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10134,839,025 - 134,852,719 (+)Ensemblpanpan1.1panPan2
CYP2E1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12841,079,164 - 41,089,188 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2841,035,025 - 41,122,754 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2841,171,673 - 41,181,706 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02841,754,551 - 41,764,586 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2841,754,522 - 41,764,585 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12841,235,594 - 41,245,625 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02841,224,985 - 41,235,013 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02841,627,674 - 41,637,700 (+)NCBIUU_Cfam_GSD_1.0
LOC101973029
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244072135,858,593 - 5,869,493 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648619,691,822 - 19,702,102 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648619,691,822 - 19,702,684 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYP2E1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14141,690,426 - 141,736,817 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114141,690,737 - 141,703,078 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214153,478,051 - 153,490,404 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CYP2E1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12653,390,054 - 53,403,309 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2653,390,089 - 53,404,211 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605441,523,569 - 41,534,845 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101722366
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473712,335,681 - 12,345,514 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473712,335,733 - 12,345,278 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYP2E1
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
CYP2E1*5B ALLELE variation CYP2E1*5B ALLELE [RCV000018383] Chr10:10q24.3-qter pathogenic
NM_000773.3(CYP2E1):c.967+1143T>A single nucleotide variant CYP2E1*6 ALLELE [RCV000018384] Chr10:133535040 [GRCh38]
Chr10:135348544 [GRCh37]
Chr10:10q26.3
pathogenic|association
GRCh38/hg38 10q26.3(chr10:133390058-133564028)x1 copy number loss See cases [RCV000050937] Chr10:133390058..133564028 [GRCh38]
Chr10:135203562..135377532 [GRCh37]
Chr10:135053552..135227522 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133503306-133591019)x3 copy number gain See cases [RCV000050984] Chr10:133503306..133591019 [GRCh38]
Chr10:135316810..135404523 [GRCh37]
Chr10:135166800..135254513 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133440535-133564028)x3 copy number gain See cases [RCV000050541] Chr10:133440535..133564028 [GRCh38]
Chr10:135254039..135377532 [GRCh37]
Chr10:135104029..135227522 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133440535-133564028)x1 copy number loss See cases [RCV000050545] Chr10:133440535..133564028 [GRCh38]
Chr10:135254039..135377532 [GRCh37]
Chr10:135104029..135227522 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133538868-133620674)x3 copy number gain See cases [RCV000050589] Chr10:133538868..133620674 [GRCh38]
Chr10:135352372..135434178 [GRCh37]
Chr10:135202362..135284168 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133440535-133558988)x3 copy number gain See cases [RCV000051087] Chr10:133440535..133558988 [GRCh38]
Chr10:135254039..135372492 [GRCh37]
Chr10:135104029..135222482 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133440535-133558988)x1 copy number loss See cases [RCV000051089] Chr10:133440535..133558988 [GRCh38]
Chr10:135254039..135372492 [GRCh37]
Chr10:135104029..135222482 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1 copy number loss See cases [RCV000051150] Chr10:123307835..133620674 [GRCh38]
Chr10:125067351..135434178 [GRCh37]
Chr10:125057341..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1 copy number loss See cases [RCV000051165] Chr10:133001134..133620674 [GRCh38]
Chr10:134814638..135434178 [GRCh37]
Chr10:134664628..135284168 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1 copy number loss See cases [RCV000050997] Chr10:131457361..133620674 [GRCh38]
Chr10:133255624..135434178 [GRCh37]
Chr10:133145614..135284168 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1 copy number loss See cases [RCV000052643] Chr10:131914873..133613938 [GRCh38]
Chr10:133728377..135427442 [GRCh37]
Chr10:133578367..135277432 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1 copy number loss See cases [RCV000052644] Chr10:132475849..133620674 [GRCh38]
Chr10:134289353..135434178 [GRCh37]
Chr10:134139343..135284168 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1 copy number loss See cases [RCV000052612] Chr10:126256585..133613938 [GRCh38]
Chr10:127945154..135427442 [GRCh37]
Chr10:127935144..135277432 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|See cases [RCV000052613] Chr10:127500483..133620674 [GRCh38]
Chr10:129298747..135434178 [GRCh37]
Chr10:129188737..135284168 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1 copy number loss See cases [RCV000052614] Chr10:129673966..133613938 [GRCh38]
Chr10:131472230..135427442 [GRCh37]
Chr10:131362220..135277432 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129758596-133620674)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|See cases [RCV000052615] Chr10:129758596..133620674 [GRCh38]
Chr10:131556860..135434178 [GRCh37]
Chr10:131446850..135284168 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1 copy number loss See cases [RCV000052611] Chr10:123580320..133558988 [GRCh38]
Chr10:125339836..135372492 [GRCh37]
Chr10:125329826..135222482 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133440535-133554218)x3 copy number gain See cases [RCV000133808] Chr10:133440535..133554218 [GRCh38]
Chr10:135254039..135367722 [GRCh37]
Chr10:135104029..135217712 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133538868-133564028)x1 copy number loss See cases [RCV000133634] Chr10:133538868..133564028 [GRCh38]
Chr10:135352372..135377532 [GRCh37]
Chr10:135202362..135227522 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133503306-133620674)x3 copy number gain See cases [RCV000133628] Chr10:133503306..133620674 [GRCh38]
Chr10:135316810..135434178 [GRCh37]
Chr10:135166800..135284168 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133440535-133591019)x3 copy number gain See cases [RCV000133702] Chr10:133440535..133591019 [GRCh38]
Chr10:135254039..135404523 [GRCh37]
Chr10:135104029..135254513 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1 copy number loss See cases [RCV000133741] Chr10:125657472..133620674 [GRCh38]
Chr10:127346041..135434178 [GRCh37]
Chr10:127336031..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133536160-133620609)x3 copy number gain See cases [RCV000134732] Chr10:133536160..133620609 [GRCh38]
Chr10:135349664..135434113 [GRCh37]
Chr10:135199654..135284103 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133465763-133556331)x3 copy number gain See cases [RCV000133927] Chr10:133465763..133556331 [GRCh38]
Chr10:135279267..135369835 [GRCh37]
Chr10:135129257..135219825 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1 copy number loss See cases [RCV000134040] Chr10:126730896..133620609 [GRCh38]
Chr10:128419465..135434113 [GRCh37]
Chr10:128409455..135284103 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133445115-133536219)x1 copy number loss See cases [RCV000134056] Chr10:133445115..133536219 [GRCh38]
Chr10:135258619..135349723 [GRCh37]
Chr10:135108609..135199713 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133538858-133556327)x3 copy number gain See cases [RCV000134060] Chr10:133538858..133556327 [GRCh38]
Chr10:135352362..135369831 [GRCh37]
Chr10:135202352..135219821 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133461400-133556327)x3 copy number gain See cases [RCV000134123] Chr10:133461400..133556327 [GRCh38]
Chr10:135274904..135369831 [GRCh37]
Chr10:135124894..135219821 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133432242-133564028)x1 copy number loss See cases [RCV000134007] Chr10:133432242..133564028 [GRCh38]
Chr10:135245746..135377532 [GRCh37]
Chr10:135095736..135227522 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133429127-133556327)x3 copy number gain See cases [RCV000134070] Chr10:133429127..133556327 [GRCh38]
Chr10:135242631..135369831 [GRCh37]
Chr10:135092621..135219821 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133481635-133559017)x3 copy number gain See cases [RCV000134023] Chr10:133481635..133559017 [GRCh38]
Chr10:135295139..135372521 [GRCh37]
Chr10:135145129..135222511 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133461400-133563886)x1 copy number loss See cases [RCV000134111] Chr10:133461400..133563886 [GRCh38]
Chr10:135274904..135377390 [GRCh37]
Chr10:135124894..135227380 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133468195-133556327)x3 copy number gain See cases [RCV000134097] Chr10:133468195..133556327 [GRCh38]
Chr10:135281699..135369831 [GRCh37]
Chr10:135131689..135219821 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133429545-133564028)x3 copy number gain See cases [RCV000133984] Chr10:133429545..133564028 [GRCh38]
Chr10:135243049..135377532 [GRCh37]
Chr10:135093039..135227522 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1 copy number loss See cases [RCV000135399] Chr10:132178475..133620674 [GRCh38]
Chr10:133991979..135434178 [GRCh37]
Chr10:133841969..135284168 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133456761-133563886)x3 copy number gain See cases [RCV000134864] Chr10:133456761..133563886 [GRCh38]
Chr10:135270265..135377390 [GRCh37]
Chr10:135120255..135227380 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133456761-133563886)x1 copy number loss See cases [RCV000134865] Chr10:133456761..133563886 [GRCh38]
Chr10:135270265..135377390 [GRCh37]
Chr10:135120255..135227380 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1 copy number loss See cases [RCV000135547] Chr10:129549258..133620674 [GRCh38]
Chr10:131347522..135434178 [GRCh37]
Chr10:131237512..135284168 [NCBI36]
Chr10:10q26.3
pathogenic|likely benign
GRCh38/hg38 10q26.3(chr10:133538868-133558988)x3 copy number gain See cases [RCV000136487] Chr10:133538868..133558988 [GRCh38]
Chr10:135352372..135372492 [GRCh37]
Chr10:135202362..135222482 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133440535-133620674)x3 copy number gain See cases [RCV000136513] Chr10:133440535..133620674 [GRCh38]
Chr10:135254039..135434178 [GRCh37]
Chr10:135104029..135284168 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133445172-133563998)x3 copy number gain See cases [RCV000136438] Chr10:133445172..133563998 [GRCh38]
Chr10:135258676..135377502 [GRCh37]
Chr10:135108666..135227492 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133440563-133558959)x3 copy number gain See cases [RCV000136473] Chr10:133440563..133558959 [GRCh38]
Chr10:135254067..135372463 [GRCh37]
Chr10:135104057..135222453 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133421259-133591046)x3 copy number gain See cases [RCV000136022] Chr10:133421259..133591046 [GRCh38]
Chr10:135234763..135404550 [GRCh37]
Chr10:135084753..135254540 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1 copy number loss See cases [RCV000136028] Chr10:124473108..133620609 [GRCh38]
Chr10:126161677..135434113 [GRCh37]
Chr10:126151667..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133482243-133563886)x3 copy number gain See cases [RCV000135979] Chr10:133482243..133563886 [GRCh38]
Chr10:135295747..135377390 [GRCh37]
Chr10:135145737..135227380 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133421283-133558988)x1 copy number loss See cases [RCV000135908] Chr10:133421283..133558988 [GRCh38]
Chr10:135234787..135372492 [GRCh37]
Chr10:135084777..135222482 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133429127-133591046)x3 copy number gain See cases [RCV000135995] Chr10:133429127..133591046 [GRCh38]
Chr10:135242631..135404550 [GRCh37]
Chr10:135092621..135254540 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133538868-133591019)x3 copy number gain See cases [RCV000136877] Chr10:133538868..133591019 [GRCh38]
Chr10:135352372..135404523 [GRCh37]
Chr10:135202362..135254513 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133453852-133539242)x3 copy number gain See cases [RCV000137077] Chr10:133453852..133539242 [GRCh38]
Chr10:135267356..135352746 [GRCh37]
Chr10:135117346..135202736 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3 copy number gain See cases [RCV000136888] Chr10:128872419..133564028 [GRCh38]
Chr10:130670683..135377532 [GRCh37]
Chr10:130560673..135227522 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1 copy number loss See cases [RCV000137653] Chr10:124834858..133622588 [GRCh38]
Chr10:126523427..135436092 [GRCh37]
Chr10:126513417..135286082 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133465763-133564028)x3 copy number gain See cases [RCV000137224] Chr10:133465763..133564028 [GRCh38]
Chr10:135279267..135377532 [GRCh37]
Chr10:135129257..135227522 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1 copy number loss See cases [RCV000138159] Chr10:128549913..133622588 [GRCh38]
Chr10:130348177..135436092 [GRCh37]
Chr10:130238167..135286082 [NCBI36]
Chr10:10q26.2-26.3
pathogenic|uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1 copy number loss See cases [RCV000138160] Chr10:127849717..133622588 [GRCh38]
Chr10:129647981..135436092 [GRCh37]
Chr10:129537971..135286082 [NCBI36]
Chr10:10q26.2-26.3
pathogenic|likely benign
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1 copy number loss See cases [RCV000137959] Chr10:129427520..133622588 [GRCh38]
Chr10:131225784..135436092 [GRCh37]
Chr10:131115774..135286082 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133461400-133620609)x3 copy number gain See cases [RCV000138694] Chr10:133461400..133620609 [GRCh38]
Chr10:135274904..135434113 [GRCh37]
Chr10:135124894..135284103 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1 copy number loss See cases [RCV000138257] Chr10:132962729..133622588 [GRCh38]
Chr10:134776233..135436092 [GRCh37]
Chr10:134626223..135286082 [NCBI36]
Chr10:10q26.3
pathogenic|uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 copy number loss See cases [RCV000138435] Chr10:122881207..133620609 [GRCh38]
Chr10:124640723..135434113 [GRCh37]
Chr10:124630713..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3 copy number gain See cases [RCV000139912] Chr10:133001075..133622588 [GRCh38]
Chr10:134814579..135436092 [GRCh37]
Chr10:134664569..135286082 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1 copy number loss See cases [RCV000139588] Chr10:125021995..133620609 [GRCh38]
Chr10:126710564..135434113 [GRCh37]
Chr10:126700554..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133440549-133563886)x1 copy number loss See cases [RCV000139603] Chr10:133440549..133563886 [GRCh38]
Chr10:135254053..135377390 [GRCh37]
Chr10:135104043..135227380 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3 copy number gain See cases [RCV000141337] Chr10:125452905..133785874 [GRCh38]
Chr10:127141474..135523199 [GRCh37]
Chr10:127131464..135373189 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3 copy number gain See cases [RCV000140974] Chr10:127664168..133622588 [GRCh38]
Chr10:129462432..135436092 [GRCh37]
Chr10:129352422..135286082 [NCBI36]
Chr10:10q26.2-26.3
likely pathogenic
GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3 copy number gain See cases [RCV000140708] Chr10:133059029..133622588 [GRCh38]
Chr10:134872533..135436092 [GRCh37]
Chr10:134722523..135286082 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133465763-133558988)x3 copy number gain See cases [RCV000141495] Chr10:133465763..133558988 [GRCh38]
Chr10:135279267..135372492 [GRCh37]
Chr10:135129257..135222482 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133432242-133558988)x3 copy number gain See cases [RCV000141532] Chr10:133432242..133558988 [GRCh38]
Chr10:135245746..135372492 [GRCh37]
Chr10:135095736..135222482 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133465763-133558988)x3 copy number gain See cases [RCV000141533] Chr10:133465763..133558988 [GRCh38]
Chr10:135279267..135372492 [GRCh37]
Chr10:135129257..135222482 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133429127-133620609)x3 copy number gain See cases [RCV000142400] Chr10:133429127..133620609 [GRCh38]
Chr10:135242631..135434113 [GRCh37]
Chr10:135092621..135284103 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133461400-133563886)x3 copy number gain See cases [RCV000142404] Chr10:133461400..133563886 [GRCh38]
Chr10:135274904..135377390 [GRCh37]
Chr10:135124894..135227380 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133429127-133563886)x1 copy number loss See cases [RCV000142407] Chr10:133429127..133563886 [GRCh38]
Chr10:135242631..135377390 [GRCh37]
Chr10:135092621..135227380 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133429127-133563886)x3 copy number gain See cases [RCV000142412] Chr10:133429127..133563886 [GRCh38]
Chr10:135242631..135377390 [GRCh37]
Chr10:135092621..135227380 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133538858-133620609)x3 copy number gain See cases [RCV000142475] Chr10:133538858..133620609 [GRCh38]
Chr10:135352362..135434113 [GRCh37]
Chr10:135202352..135284103 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133468195-133563886)x3 copy number gain See cases [RCV000142423] Chr10:133468195..133563886 [GRCh38]
Chr10:135281699..135377390 [GRCh37]
Chr10:135131689..135227380 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133510330-133532350)x1 copy number loss See cases [RCV000142941] Chr10:133510330..133532350 [GRCh38]
Chr10:135323834..135345854 [GRCh37]
Chr10:135173824..135195844 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133524652-133540830)x3 copy number gain See cases [RCV000143030] Chr10:133524652..133540830 [GRCh38]
Chr10:135338156..135354334 [GRCh37]
Chr10:135188146..135204324 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133528676-133620609)x3 copy number gain See cases [RCV000143041] Chr10:133528676..133620609 [GRCh38]
Chr10:135342180..135434113 [GRCh37]
Chr10:135192170..135284103 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133440549-133620609)x3 copy number gain See cases [RCV000142817] Chr10:133440549..133620609 [GRCh38]
Chr10:135254053..135434113 [GRCh37]
Chr10:135104043..135284103 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133482243-133620609)x3 copy number gain See cases [RCV000142958] Chr10:133482243..133620609 [GRCh38]
Chr10:135295747..135434113 [GRCh37]
Chr10:135145737..135284103 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1 copy number loss See cases [RCV000143241] Chr10:127435985..133622588 [GRCh38]
Chr10:129234249..135436092 [GRCh37]
Chr10:129124239..135286082 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1 copy number loss See cases [RCV000143762] Chr10:131424682..133613639 [GRCh38]
Chr10:133222945..135427143 [GRCh37]
Chr10:133112935..135277133 [NCBI36]
Chr10:10q26.3
likely pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1 copy number loss See cases [RCV000143623] Chr10:123986772..133613639 [GRCh38]
Chr10:125746288..135427143 [GRCh37]
Chr10:125736278..135277133 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1 copy number loss See cases [RCV000143544] Chr10:123576393..133613639 [GRCh38]
Chr10:125335909..135427143 [GRCh37]
Chr10:125325899..135277133 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1 copy number loss See cases [RCV000143554] Chr10:130625650..133613639 [GRCh38]
Chr10:132423914..135427143 [GRCh37]
Chr10:132313904..135277133 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1 copy number loss See cases [RCV000143615] Chr10:126794646..133613639 [GRCh38]
Chr10:128483215..135427143 [GRCh37]
Chr10:128473205..135277133 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133440535-133564028)x3 copy number gain See cases [RCV000148215] Chr10:133440535..133564028 [GRCh38]
Chr10:135254039..135377532 [GRCh37]
Chr10:135104029..135227522 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133538868-133620674)x3 copy number gain See cases [RCV000148221] Chr10:133538868..133620674 [GRCh38]
Chr10:135352372..135434178 [GRCh37]
Chr10:135202362..135284168 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.3(chr10:133440535-133564028)x1 copy number loss See cases [RCV000148227] Chr10:133440535..133564028 [GRCh38]
Chr10:135254039..135377532 [GRCh37]
Chr10:135104029..135227522 [NCBI36]
Chr10:10q26.3
benign
NC_000010.11:g.133403671_133556028dup duplication Normal pregnancy [RCV000161616] Chr10:133403671..133556028 [GRCh38]
Chr10:135217175..135369532 [GRCh37]
Chr10:10q26.3
not provided
NC_000010.11:g.133438843_133565298dup duplication Normal pregnancy [RCV000161618]|Preeclampsia [RCV000161617] Chr10:133438843..133565298 [GRCh38]
Chr10:135252347..135378802 [GRCh37]
Chr10:10q26.3
not provided
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 copy number loss See cases [RCV000203440] Chr10:123731209..135353867 [GRCh37]
Chr10:10q26.13-26.3
pathogenic|likely pathogenic
GRCh38/hg38 10q26.3(chr10:133443259-133566207)x1 copy number loss Premature ovarian failure [RCV000225185] Chr10:133443259..133566207 [GRCh38]
Chr10:135256762..135379710 [GRCh37]
Chr10:10q26.3
likely pathogenic
GRCh38/hg38 10q26.3(chr10:133438843-133565298)x3 copy number gain Premature ovarian failure [RCV000225255] Chr10:133438843..133565298 [GRCh38]
Chr10:135252347..135378802 [GRCh37]
Chr10:10q26.3
benign
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)x1 copy number loss See cases [RCV000447132] Chr10:128465436..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1 copy number loss See cases [RCV000446777] Chr10:132468363..135367666 [GRCh37]
Chr10:10q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:133965613-135427143)x1 copy number loss See cases [RCV000448088] Chr10:133965613..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.963= (p.Ile321=) single nucleotide variant not specified [RCV000455117] Chr10:133533893 [GRCh38]
Chr10:135347397 [GRCh37]
Chr10:10q26.3
benign
NM_000773.4(CYP2E1):c.1263= (p.Phe421=) single nucleotide variant not provided [RCV001707691]|not specified [RCV000455849] Chr10:133537858 [GRCh38]
Chr10:135351362 [GRCh37]
Chr10:10q26.3
benign
GRCh37/hg19 10q26.3(chr10:135345340-135427143)x1 copy number loss See cases [RCV000510406] Chr10:135345340..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:134593406-135427143)x1 copy number loss See cases [RCV000510608] Chr10:134593406..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:132354150-135427143)x3 copy number gain See cases [RCV000510589] Chr10:132354150..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1 copy number loss See cases [RCV000511570] Chr10:129825453..135427143 [GRCh37]
Chr10:10q26.2-26.3
likely pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1 copy number loss See cases [RCV000511813] Chr10:127658004..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q26.3(chr10:134624870-135427143)x1 copy number loss See cases [RCV000511601] Chr10:134624870..135427143 [GRCh37]
Chr10:10q26.3
likely pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3 copy number gain See cases [RCV000512398] Chr10:129007673..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:135252346-135354972)x1 copy number loss not provided [RCV000683190] Chr10:135252346..135354972 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1 copy number loss not provided [RCV000683283] Chr10:127375792..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1 copy number loss not provided [RCV000683285] Chr10:125450893..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1 copy number loss not provided [RCV000683274] Chr10:131949020..135427143 [GRCh37]
Chr10:10q26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NC_000010.10:g.135252327_135378761del126435 deletion Primary amenorrhea [RCV000754449] Chr10:133438823..133565257 [GRCh38]
Chr10:135252327..135378761 [GRCh37]
Chr10:10q26.3
likely pathogenic
NC_000010.11:g.133438823_133565257dup duplication Primary amenorrhea [RCV000754450] Chr10:133438823..133565257 [GRCh38]
Chr10:135252327..135378761 [GRCh37]
Chr10:10q26.3
uncertain significance
NC_000010.11:g.133468178_133565257dup duplication Primary amenorrhea [RCV000754452] Chr10:133468178..133565257 [GRCh38]
Chr10:135281682..135378761 [GRCh37]
Chr10:10q26.3
uncertain significance
NC_000010.11:g.133468178_133591019dup duplication Primary amenorrhea [RCV000754453] Chr10:133468178..133591019 [GRCh38]
Chr10:135281682..135404523 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129454892-135447971)x1 copy number loss not provided [RCV000737323] Chr10:129454892..135447971 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
NC_000010.11:g.133468178_133564028dup duplication Primary amenorrhea [RCV000754451] Chr10:133468178..133564028 [GRCh38]
Chr10:135281682..135377532 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:134777671-135434303)x1 copy number loss not provided [RCV000749862] Chr10:134777671..135434303 [GRCh37]
Chr10:10q26.3
benign
GRCh37/hg19 10q26.3(chr10:134889866-135379710)x3 copy number gain not provided [RCV000749866] Chr10:134889866..135379710 [GRCh37]
Chr10:10q26.3
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_000773.4(CYP2E1):c.1044C>G (p.Pro348=) single nucleotide variant not provided [RCV000965827] Chr10:133537139 [GRCh38]
Chr10:135350643 [GRCh37]
Chr10:10q26.3
benign
NM_000773.4(CYP2E1):c.294G>A (p.Ser98=) single nucleotide variant not provided [RCV000915428] Chr10:133528597 [GRCh38]
Chr10:135342101 [GRCh37]
Chr10:10q26.3
benign
NM_000773.4(CYP2E1):c.1263C>T (p.Phe421=) single nucleotide variant not provided [RCV000947301] Chr10:133537858 [GRCh38]
Chr10:135351362 [GRCh37]
Chr10:10q26.3
benign
NM_000773.4(CYP2E1):c.1370A>T (p.His457Leu) single nucleotide variant not provided [RCV000965828] Chr10:133538852 [GRCh38]
Chr10:135352356 [GRCh37]
Chr10:10q26.3
benign
NM_000773.4(CYP2E1):c.655A>G (p.Asn219Asp) single nucleotide variant not provided [RCV000960923] Chr10:133532698 [GRCh38]
Chr10:135346202 [GRCh37]
Chr10:10q26.3
likely benign
NM_000773.4(CYP2E1):c.909C>A (p.Thr303=) single nucleotide variant not provided [RCV000894200] Chr10:133533839 [GRCh38]
Chr10:135347343 [GRCh37]
Chr10:10q26.3
benign
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:135079677-135427143)x4 copy number gain not provided [RCV000848040] Chr10:135079677..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3 copy number gain not provided [RCV000848791] Chr10:124988334..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:135158728-135427143)x1 copy number loss not provided [RCV000847103] Chr10:135158728..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:135111843-135427143)x1 copy number loss not provided [RCV000848506] Chr10:135111843..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1 copy number loss not provided [RCV001006362] Chr10:129009772..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
NM_000773.4(CYP2E1):c.612T>C (p.Asn204=) single nucleotide variant not provided [RCV000972276] Chr10:133532248 [GRCh38]
Chr10:135345752 [GRCh37]
Chr10:10q26.3
benign
NM_000773.4(CYP2E1):c.624C>T (p.His208=) single nucleotide variant not provided [RCV000931357] Chr10:133532260 [GRCh38]
Chr10:135345764 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1 copy number loss not provided [RCV001006364] Chr10:129381095..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
NM_000773.4(CYP2E1):c.1186G>C (p.Val396Leu) single nucleotide variant not provided [RCV000911448] Chr10:133537781 [GRCh38]
Chr10:135351285 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q26.3(chr10:135165733-135427143)x3 copy number gain not provided [RCV001259088] Chr10:135165733..135427143 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q26.3(chr10:135204187-135408132)x3 copy number gain not provided [RCV001259089] Chr10:135204187..135408132 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1 copy number loss not provided [RCV001259085] Chr10:129031265..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178) copy number loss Global developmental delay [RCV001352664] Chr10:129483682..135434178 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
Single allele deletion Distal 10q deletion syndrome [RCV001391670] Chr10:127548166..135440251 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 copy number loss See cases [RCV001526488] Chr10:122785023..135457222 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1 copy number loss See cases [RCV002285041] Chr10:129605105..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143) copy number loss not specified [RCV002052908] Chr10:129914228..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) copy number loss not specified [RCV002052895] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NC_000010.11:g.133346605_133601248dup duplication not provided [RCV001839379] Chr10:133346605..133601248 [GRCh38]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143) copy number loss not specified [RCV002052902] Chr10:128465436..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
NC_000010.10:g.(?_134916201)_(135439108_?)del deletion not provided [RCV001972520] Chr10:134916201..135439108 [GRCh37]
Chr10:10q26.3
pathogenic
NC_000010.10:g.(?_134598420)_(135373622_?)del deletion not provided [RCV001975099] Chr10:134598420..135373622 [GRCh37]
Chr10:10q26.3
pathogenic
NC_000010.10:g.(?_134598420)_(135373622_?)dup duplication not provided [RCV003113881] Chr10:134598420..135373622 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3 copy number gain See cases [RCV002292400] Chr10:127198625..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1 copy number loss See cases [RCV002292397] Chr10:126914469..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1 copy number loss not provided [RCV002473957] Chr10:130043370..135345340 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
NM_000773.4(CYP2E1):c.779A>G (p.Asn260Ser) single nucleotide variant Inborn genetic diseases [RCV002990479] Chr10:133532822 [GRCh38]
Chr10:135346326 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q26.3(chr10:132631529-135354972)x1 copy number loss not provided [RCV002475809] Chr10:132631529..135354972 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.49C>T (p.Leu17Phe) single nucleotide variant Inborn genetic diseases [RCV002779157] Chr10:133527444 [GRCh38]
Chr10:135340948 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.871G>A (p.Val291Met) single nucleotide variant Inborn genetic diseases [RCV002992839] Chr10:133533801 [GRCh38]
Chr10:135347305 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.637C>T (p.Pro213Ser) single nucleotide variant Inborn genetic diseases [RCV002684244] Chr10:133532273 [GRCh38]
Chr10:135345777 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.1049T>G (p.Met350Arg) single nucleotide variant Inborn genetic diseases [RCV002822115] Chr10:133537144 [GRCh38]
Chr10:135350648 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.1055C>G (p.Ala352Gly) single nucleotide variant Inborn genetic diseases [RCV002798744] Chr10:133537150 [GRCh38]
Chr10:135350654 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.136T>C (p.Phe46Leu) single nucleotide variant Inborn genetic diseases [RCV002884490] Chr10:133527531 [GRCh38]
Chr10:135341035 [GRCh37]
Chr10:10q26.3
likely benign
NM_000773.4(CYP2E1):c.232G>A (p.Val78Met) single nucleotide variant Inborn genetic diseases [RCV002744386] Chr10:133528535 [GRCh38]
Chr10:135342039 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.845G>A (p.Arg282His) single nucleotide variant Inborn genetic diseases [RCV002789692] Chr10:133533775 [GRCh38]
Chr10:135347279 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.311C>T (p.Pro104Leu) single nucleotide variant Inborn genetic diseases [RCV002709338] Chr10:133528614 [GRCh38]
Chr10:135342118 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.493C>G (p.Pro165Ala) single nucleotide variant Inborn genetic diseases [RCV002768855] Chr10:133532129 [GRCh38]
Chr10:135345633 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.310C>T (p.Pro104Ser) single nucleotide variant Inborn genetic diseases [RCV002655757] Chr10:133528613 [GRCh38]
Chr10:135342117 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.788G>A (p.Arg263Gln) single nucleotide variant Inborn genetic diseases [RCV003188443] Chr10:133532831 [GRCh38]
Chr10:135346335 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_000773.4(CYP2E1):c.461T>G (p.Leu154Arg) single nucleotide variant Inborn genetic diseases [RCV003181204] Chr10:133531708 [GRCh38]
Chr10:135345212 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 copy number loss not provided [RCV003222684] Chr10:122610933..135439810 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_000773.4(CYP2E1):c.187C>G (p.Arg63Gly) single nucleotide variant Inborn genetic diseases [RCV003174854] Chr10:133528490 [GRCh38]
Chr10:135341994 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) copy number loss Distal 10q deletion syndrome [RCV003319590] Chr10:123477898..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1 copy number loss Distal 10q deletion syndrome [RCV003329543] Chr10:124895517..135440296 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
NM_000773.4(CYP2E1):c.727A>G (p.Lys243Glu) single nucleotide variant Inborn genetic diseases [RCV003367294] Chr10:133532770 [GRCh38]
Chr10:135346274 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1 copy number loss Distal 10q deletion syndrome [RCV003458182] Chr10:128289206..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:135053180-135381952)x3 copy number gain not provided [RCV003456733] Chr10:135053180..135381952 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1 copy number loss not provided [RCV003483110] Chr10:133435524..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1 copy number loss not provided [RCV003483108] Chr10:128925940..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1 copy number loss not specified [RCV003986883] Chr10:131398569..135427143 [GRCh37]
Chr10:10q26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1 copy number loss not specified [RCV003986904] Chr10:125987494..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1 copy number loss not specified [RCV003986878] Chr10:126127397..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:135193503-135412582)x1 copy number loss not provided [RCV003885451] Chr10:135193503..135412582 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1 copy number loss not provided [RCV003885450] Chr10:131299771..135441274 [GRCh37]
Chr10:10q26.3
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR488hsa-miR-488-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR488hsa-miR-488-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1780
Count of miRNA genes:827
Interacting mature miRNAs:978
Transcripts:ENST00000252945, ENST00000368520, ENST00000418356, ENST00000421586, ENST00000463117, ENST00000469258, ENST00000477500, ENST00000480558, ENST00000541080, ENST00000541261
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH102433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,344,140 - 135,344,300UniSTSGRCh37
Build 3610135,194,130 - 135,194,290RGDNCBI36
Celera10128,176,849 - 128,177,009RGD
Cytogenetic Map10q26.3UniSTS
HuRef10128,885,964 - 128,886,124UniSTS
GeneMap99-GB4 RH Map10561.05UniSTS
GDB:181494  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera10128,173,100 - 128,173,581RGD
Cytogenetic Map10q26.3UniSTS
GDB:196492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,348,294 - 135,348,669UniSTSGRCh37
Build 3610135,198,284 - 135,198,659RGDNCBI36
Celera10128,172,477 - 128,172,852RGD
Cytogenetic Map10q26.3UniSTS
HuRef10128,890,121 - 128,890,495UniSTS
GDB:277133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,349,849 - 135,349,994UniSTSGRCh37
Build 3610135,199,839 - 135,199,984RGDNCBI36
Celera10128,171,152 - 128,171,297RGD
Cytogenetic Map10q26.3UniSTS
D10S2410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,344,166 - 135,344,300UniSTSGRCh37
Build 3610135,194,156 - 135,194,290RGDNCBI36
Celera10128,176,849 - 128,176,983RGD
Cytogenetic Map10q26.3UniSTS
HuRef10128,885,990 - 128,886,124UniSTS
RH1572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,352,396 - 135,352,510UniSTSGRCh37
Build 3610135,202,386 - 135,202,500RGDNCBI36
Celera10128,168,639 - 128,168,753RGD
Cytogenetic Map10q26.3UniSTS
HuRef10128,894,400 - 128,894,514UniSTS
GeneMap99-GB4 RH Map10561.05UniSTS
NCBI RH Map101382.8UniSTS
WI-14945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,343,019 - 135,343,168UniSTSGRCh37
Build 3610135,193,009 - 135,193,158RGDNCBI36
Celera10128,177,981 - 128,178,130RGD
Cytogenetic Map10q26.3UniSTS
HuRef10128,884,843 - 128,884,992UniSTS
GeneMap99-GB4 RH Map10561.05UniSTS
Whitehead-RH Map10670.4UniSTS
NCBI RH Map101382.8UniSTS
D10S2350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,352,475 - 135,352,567UniSTSGRCh37
Build 3610135,202,465 - 135,202,557RGDNCBI36
Celera10128,168,582 - 128,168,674RGD
Cytogenetic Map10q26.3UniSTS
HuRef10128,894,479 - 128,894,571UniSTS
GeneMap99-G3 RH Map106552.0UniSTS
CYP2E1_2771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710135,352,257 - 135,352,671UniSTSGRCh37
Build 3610135,202,247 - 135,202,661RGDNCBI36
Celera10128,168,478 - 128,168,892RGD
HuRef10128,894,261 - 128,894,675UniSTS
GDB:580696  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q26.3UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 263 263 1 263
Medium 62 48 187 132 36 130 772 12 582 5 167 57 2 7 441
Low 2195 2294 1198 191 916 34 3249 1950 3006 209 1145 1304 161 1182 2300 1
Below cutoff 143 610 68 29 866 30 181 226 106 173 100 188 7 15 47 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC245077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF084225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF182276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ853939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ853940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ877238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX951478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ149222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ515958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000252945   ⟹   ENSP00000252945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,527,363 - 133,539,123 (+)Ensembl
RefSeq Acc Id: ENST00000368520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,531,576 - 133,561,220 (+)Ensembl
RefSeq Acc Id: ENST00000418356   ⟹   ENSP00000397299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,527,497 - 133,538,811 (+)Ensembl
RefSeq Acc Id: ENST00000421586   ⟹   ENSP00000412754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,527,497 - 133,538,811 (+)Ensembl
RefSeq Acc Id: ENST00000463117   ⟹   ENSP00000440689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,520,406 - 133,539,122 (+)Ensembl
RefSeq Acc Id: ENST00000469258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,537,500 - 133,539,118 (+)Ensembl
RefSeq Acc Id: ENST00000477500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,527,435 - 133,532,868 (+)Ensembl
RefSeq Acc Id: ENST00000480558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,528,079 - 133,532,164 (+)Ensembl
RefSeq Acc Id: ENST00000541080   ⟹   ENSP00000444958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,527,497 - 133,538,811 (+)Ensembl
RefSeq Acc Id: ENST00000541261   ⟹   ENSP00000437799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10133,525,544 - 133,528,563 (+)Ensembl
RefSeq Acc Id: NM_000773   ⟹   NP_000764
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,527,363 - 133,539,123 (+)NCBI
GRCh3710135,340,300 - 135,352,627 (+)NCBI
Build 3610135,190,857 - 135,202,610 (+)NCBI Archive
HuRef10128,882,691 - 128,894,624 (+)ENTREZGENE
CHM1_110135,620,490 - 135,632,188 (+)NCBI
T2T-CHM13v2.010134,478,949 - 134,490,654 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000764   ⟸   NM_000773
- Peptide Label: precursor
- UniProtKB: Q6NWT9 (UniProtKB/Swiss-Prot),   Q5VZD5 (UniProtKB/Swiss-Prot),   Q9UK47 (UniProtKB/Swiss-Prot),   P05181 (UniProtKB/Swiss-Prot),   A8K457 (UniProtKB/TrEMBL),   Q3YA63 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000437799   ⟸   ENST00000541261
RefSeq Acc Id: ENSP00000444958   ⟸   ENST00000541080
RefSeq Acc Id: ENSP00000440689   ⟸   ENST00000463117
RefSeq Acc Id: ENSP00000252945   ⟸   ENST00000252945
RefSeq Acc Id: ENSP00000397299   ⟸   ENST00000418356
RefSeq Acc Id: ENSP00000412754   ⟸   ENST00000421586

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P05181-F1-model_v2 AlphaFold P05181 1-493 view protein structure

Promoters
RGD ID:7219083
Promoter ID:EPDNEW_H15287
Type:multiple initiation site
Name:CYP2E1_1
Description:cytochrome P450 family 2 subfamily E member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,527,363 - 133,527,423EPDNEW
RGD ID:6809805
Promoter ID:HG_ACW:10381
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:CYP2E1.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3610135,183,729 - 135,184,229 (+)MPROMDB
RGD ID:6787486
Promoter ID:HG_KWN:11774
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000368520,   OTTHUMT00000051164
Position:
Human AssemblyChrPosition (strand)Source
Build 3610135,193,896 - 135,194,396 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2631 AgrOrtholog
COSMIC CYP2E1 COSMIC
Ensembl Genes ENSG00000130649 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252945 ENTREZGENE
  ENST00000252945.8 UniProtKB/Swiss-Prot
  ENST00000418356.1 UniProtKB/TrEMBL
  ENST00000421586.5 UniProtKB/TrEMBL
  ENST00000463117.6 UniProtKB/Swiss-Prot
  ENST00000541080.5 UniProtKB/TrEMBL
  ENST00000541261.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130649 GTEx
HGNC ID HGNC:2631 ENTREZGENE
Human Proteome Map CYP2E1 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-I_CYP2E-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1571 UniProtKB/Swiss-Prot
NCBI Gene 1571 ENTREZGENE
OMIM 124040 OMIM
PANTHER CYTOCHROME P450 2E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOCHROME P450 508A4-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOCHROME P450 FAMILY UniProtKB/TrEMBL
  CYTOCHROME P450 FAMILY UniProtKB/TrEMBL
  CYTOCHROME P450 FAMILY 1 UniProtKB/TrEMBL
  OS09G0441600 PROTEIN UniProtKB/TrEMBL
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CYP2E1 RGD, PharmGKB
PRINTS EP450I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EP450ICYP2E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K457 ENTREZGENE, UniProtKB/TrEMBL
  CP2E1_HUMAN UniProtKB/Swiss-Prot
  F5H694_HUMAN UniProtKB/TrEMBL
  H0Y593_HUMAN UniProtKB/TrEMBL
  H0Y7H4_HUMAN UniProtKB/TrEMBL
  H0YGV5_HUMAN UniProtKB/TrEMBL
  P05181 ENTREZGENE
  Q16868_HUMAN UniProtKB/TrEMBL
  Q3YA63 ENTREZGENE, UniProtKB/TrEMBL
  Q4LBD0_HUMAN UniProtKB/TrEMBL
  Q573G9_HUMAN UniProtKB/TrEMBL
  Q573H0_HUMAN UniProtKB/TrEMBL
  Q5VZD5 ENTREZGENE
  Q6LER5_HUMAN UniProtKB/TrEMBL
  Q6NWT7_HUMAN UniProtKB/TrEMBL
  Q6NWT9 ENTREZGENE
  Q9UK47 ENTREZGENE
UniProt Secondary Q5VZD5 UniProtKB/Swiss-Prot
  Q6NWT9 UniProtKB/Swiss-Prot
  Q9UK47 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP2E1  cytochrome P450 family 2 subfamily E member 1  CYP2E1  cytochrome P450, family 2, subfamily E, polypeptide 1  Symbol and/or name change 5135510 APPROVED