CYP2E1
cytochrome P450 family 2 subfamily E member 1, the group of Cytochrome P450 family 2
Basic information
Region (hg38): 10:133520406-133561220
Previous symbols: [ "CYP2E" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (49 variants)
- not_provided (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP2E1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000773.4. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 5 | |||||
| missense | 42 | 52 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 42 | 10 | 5 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CYP2E1 | protein_coding | protein_coding | ENST00000463117 | 9 | 40815 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 8.07e-9 | 0.480 | 125681 | 0 | 66 | 125747 | 0.000262 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.878 | 254 | 297 | 0.857 | 0.0000170 | 3254 |
| Missense in Polyphen | 98 | 121.01 | 0.80984 | 1359 | ||
| Synonymous | -0.119 | 125 | 123 | 1.01 | 0.00000762 | 953 |
| Loss of Function | 1.00 | 15 | 19.8 | 0.757 | 0.00000101 | 226 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000338 | 0.000338 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000655 | 0.000653 |
| Finnish | 0.000142 | 0.000139 |
| European (Non-Finnish) | 0.000359 | 0.000352 |
| Middle Eastern | 0.000655 | 0.000653 |
| South Asian | 0.0000764 | 0.0000653 |
| Other | 0.000179 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms.;
- Pathway
- Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Steroid hormone biosynthesis - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Linoleic acid metabolism - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Carbamazepine Pathway, Pharmacokinetics;Phenytoin Pathway, Pharmacokinetics;Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics;Caffeine Pathway, Pharmacokinetics;Theophylline Pathway, Pharmacokinetics;Pathway_PA165986194 -need delete;Acetaminophen Pathway, Pharmacokinetics;Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Diflunisal Action Pathway;Leukotriene C4 Synthesis Deficiency;Disulfiram Action Pathway;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Felbamate Metabolism Pathway;Ethanol Degradation;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Acetaminophen Metabolism Pathway;Caffeine Metabolism;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Folate-Alcohol and Cancer Pathway Hypotheses;Fatty Acid Omega Oxidation;Felbamate Metabolism;Nuclear Receptors in Lipid Metabolism and Toxicity;Gut-Liver Indole Metabolism;Metabolism of Dichloroethylene by CYP450;Benzene metabolism;Ethanol effects on histone modifications;Acrylamide Biotransformation and Exposure Biomarkers;Oxidation by Cytochrome P450;Tryptophan metabolism;Tamoxifen metabolism;Metapathway biotransformation Phase I and II;Vitamin A and Carotenoid Metabolism;mechanism of acetaminophen activity and toxicity;Phase I - Functionalization of compounds;Metabolism of lipids;acetone degradation I (to methylglyoxal);Xenobiotics;Tyrosine metabolism;Androgen and estrogen biosynthesis and metabolism;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;oxidative ethanol degradation III;Biosynthesis of maresin-like SPMs;Biosynthesis of maresins;Biosynthesis of DHA-derived SPMs;Biosynthesis of specialized proresolving mediators (SPMs);Fatty acid metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;Tryptophan degradation;CYP2E1 reactions;methylglyoxal degradation III;Arachidonic acid metabolism
(Consensus)
Intolerance Scores
- loftool
- 0.555
- rvis_EVS
- -0.29
- rvis_percentile_EVS
- 33.42
Haploinsufficiency Scores
- pHI
- 0.634
- hipred
- Y
- hipred_score
- 0.663
- ghis
- 0.516
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.777
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cyp2e1
- Phenotype
- homeostasis/metabolism phenotype; neoplasm; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);
Gene ontology
- Biological process
- organic acid metabolic process;triglyceride metabolic process;xenobiotic metabolic process;steroid metabolic process;response to bacterium;response to ozone;response to organonitrogen compound;monoterpenoid metabolic process;drug metabolic process;carbon tetrachloride metabolic process;benzene metabolic process;epoxygenase P450 pathway;halogenated hydrocarbon metabolic process;exogenous drug catabolic process;long-chain fatty acid biosynthetic process;response to ethanol;heterocycle metabolic process;oxidation-reduction process
- Cellular component
- Golgi membrane;cytoplasm;mitochondrion;endoplasmic reticulum membrane;intrinsic component of endoplasmic reticulum membrane;intracellular membrane-bounded organelle
- Molecular function
- monooxygenase activity;iron ion binding;arachidonic acid epoxygenase activity;steroid hydroxylase activity;oxidoreductase activity;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;oxygen binding;enzyme binding;heme binding