Overview

Variant ID 14666
Entrez Gene ID 1571
Gene CYP2E1 (GeneCards)
Location hg19 10:135354390-135354390
hg38 10:133540886-133540886
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000010.10:g.135354390 T>C (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 135534747

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
CADD Raw score (version 1.3) -0.080899 (Deleterious)
FATHMM raw prediction score 0.08816 (Tolerated)
Deleterious probability by DeFine 0.1514 (Neutral)
Entrez Gene ID 1571 (NCBI Gene)
Official Gene Symbol CYP2E1 (GeneCards)
Number of variants in CYP2E1 in this database 3 (view all the variants)
Full name cytochrome P450 family 2 subfamily E member 1
Band 10q26.3
Other IDs Vega: OTTHUMG00000019322
OMIM: 124040
HGNC: HGNC:2631
Ensembl: ENSG00000130649
Other names CPE1, CYP2E, P450-J, P450C2E
Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217584.15 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;