Variant Details for UTRN
Basic Information Top
| Gene Symbol: | UTRN ( DMDL,DRP,DRP1,FLJ23678 ) |
|---|---|
| Gene Full Name: | utrophin |
| Band: | 6q24.2 |
| Quick Links | Entrez ID:7402; OMIM: 128240; Uniprot ID:UTRO_HUMAN; ENSEMBL ID: ENSG00000152818; HGNC ID: 12635 |
| 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 | 2 | 2 | 1 | 2 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003230 | 6 | 6q24.2 | 144520494 | 144780581 | 260087 | gain | external link | Gai, 2011 |
| AutCNV0004966 | 15 | 15q13.1 | gain | Hadley D, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 144747566 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 6 | 145079042 | A | G | strong | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 6 | 144783895 | A | G | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 144854342 | G | A | Y | Cukier HN, 2014 | ||||
| 6 | 144811319 | A | G | Y | Cukier HN, 2014 |
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! | |||||||