Variant Details for CHD5
Basic Information Top
| Gene Symbol: | CHD5 ( DKFZp434N231,KIAA0444 ) |
|---|---|
| Gene Full Name: | chromodomain helicase DNA binding protein 5 |
| Band: | 1p36.31 |
| Quick Links | Entrez ID:26038; OMIM: 610771; Uniprot ID:CHD5_HUMAN; ENSEMBL ID: ENSG00000116254; HGNC ID: 16816 |
| 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 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000445 | 1 | 1p36.31 | 5992703 | 6693792 | 701089 | loss | external link | Gregory, 2009 |
| AutCNV0000444 | 1 | 1p36.31 | 5908247 | 6569087 | 660840 | gain | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 6191718 | G | A | Sanger sequencing | deleterious | 0.9601 | De Rubeis S, 2014 | ||
| 1 | 6202253 | G | T | c.2371C>A | p.Arg791Arg | Not_tested | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||