Variant Details for CYP2E1
Basic Information Top
| Gene Symbol: | CYP2E1 ( CPE1,CYP2E,P450-J,P450C2E ) |
|---|---|
| Gene Full Name: | cytochrome P450, family 2, subfamily E, polypeptide 1 |
| Band: | 10q26.3 |
| Quick Links | Entrez ID:1571; OMIM: 124040; Uniprot ID:CP2E1_HUMAN; ENSEMBL ID: ENSG00000130649; HGNC ID: 2631 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 11 | 0 | 1 | 0 | 0 | 0 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000560 | 10 | 10q26.3 | 134869734 | 135524747 | 655013 | gain | external link | Gregory, 2009 |
| AutCNV0000559 | 10 | 10q26.3 | 133851535 | 135524747 | 1673212 | loss | external link | Gregory, 2009 |
| AutCNV0000558 | 10 | 10q26.3 | 133753553 | 135524747 | 1771194 | loss | external link | Gregory, 2009 |
| AutCNV0000557 | 10 | 10q26.3 | 133753553 | 135524747 | 1771194 | loss | external link | Gregory, 2009 |
| AutCNV0000556 | 10 | 10q26.3 | 133327068 | 135524747 | 2197679 | loss | external link | Gregory, 2009 |
| AutCNV0000555 | 10 | 10q26.3 | 132726059 | 135524747 | 2798688 | loss | external link | Gregory, 2009 |
| AutCNV0002759 | 10 | 10q26.3 | 135351137 | 135446468 | 95331 | gain | external link | Pinto, 2010 |
| AutCNV0001983 | 10 | 10q26.3 | 135352013 | 135446468 | 94455 | gain | external link | Pinto, 2010 |
| AutCNV0001982 | 10 | 10q26.3 | 135351137 | 135434988 | 83851 | gain | external link | Pinto, 2010 |
| AutCNV0001980 | 10 | 10q26.3 | 134826117 | 135422460 | 596343 | gain | external link | Pinto, 2010 |
| AutCNV0004115 | 10 | 10q26.3 | 135233189 | 135391821 | 158632 | gain | external link | Levy, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 10 | 135345665 | G | A | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||