| Variant ID | 1245 |
|---|---|
| Entrez Gene ID | 1571 |
| Gene | CYP2E1 (GeneCards) |
| Location | hg19 10:135345665-135345665
hg38 10:133532161-133532161 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000010.10:g.135345665_135345665 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_000773.3 |
| mRNA length | 1667 |
| Reference length | 135534747 |
| Deleterious probability by DeFine | 0.8196 (Deleterious) |
|---|
| 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 ID | 28867142.10 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |