Variant Details for SQLE
Basic Information Top
| Gene Symbol: | SQLE ( FLJ30795 ) |
|---|---|
| Gene Full Name: | squalene epoxidase |
| Band: | 8q24.13 |
| Quick Links | Entrez ID:6713; OMIM: 602019; Uniprot ID:ERG1_HUMAN; ENSEMBL ID: ENSG00000104549; HGNC ID: 11279 |
| 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 | 1 | 0 | 0 | 0 | 0 | 3 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000082 | 8 | 8q22.3-24.3 | 104716824 | 142002818 | 37285994 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|
| No related data! | ||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000060 | 8q24.13 | 8 | D8S1179 | 1.66 | - | - | Liu, 2001 |
| AutLD0000014 | 8q24.13 | 8 | D8S1832 | 1.5 | - | - | Yonan, 2003 |
| AutLD0000107 | 8q24.13 | 8 | D8S1832 | - | 2.07 | - | Ylisaukko-oja, 2006 |