Variant Details for EXT1
Basic Information Top
| Gene Symbol: | EXT1 ( EXT,LGCR,LGS,TRPS2,TTV ) |
|---|---|
| Gene Full Name: | exostosin 1 |
| Band: | 8q24.11 |
| Quick Links | Entrez ID:2131; OMIM: 608177; Uniprot ID:EXT1_HUMAN; ENSEMBL ID: ENSG00000182197; HGNC ID: 3512 |
| 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 | 2 | 2 | 0 | 1 | 0 | 6 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 119122786 | G | A | Sanger sequencing | deleterious | 0.9929 | De Rubeis S, 2014 | ||
| 8 | 118938367 | T | C | Sequenom | Michaelson JJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 8 | 118830706 | C | T | mosaic | PASM | Dou Y, 2017 |