Variant Details for DDX53
Basic Information Top
| Gene Symbol: | DDX53 ( CAGE,CT26 ) |
|---|---|
| Gene Full Name: | DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 |
| Band: | Xp22.11 |
| Quick Links | Entrez ID:168400; OMIM: NA; Uniprot ID:DDX53_HUMAN; ENSEMBL ID: ENSG00000184735; HGNC ID: 20083 |
| 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 | 8 | 1 | 0 | 0 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000800 | X | Xp22.11 | 22919262 | 23304791 | 385529 | loss | external link | Pinto, 2010 |
| AutCNV0000767 | X | Xp22.11 | 22982459 | 23103573 | 121114 | loss | external link | Pinto, 2010 |
| AutCNV0000671 | X | Xp22.1-p22.3 | 6644160 | 24159444 | 17515284 | loss | external link | Vazna, 2010 |
| AutCNV0004399 | X | Xp22.11 | 22950303 | 23304791 | 354488 | loss | external link | Sanders, 2011 |
| AutCNV0003868 | X | 23p22.11 | 22944530 | 23302214 | 357684 | loss | external link | Levy, 2011 |
| AutCNV0003789 | X | Xp22.11 | 22798903 | 23019346 | 220443 | loss | external link | Gai, 2011 |
| AutCNV0003788 | X | Xp22.11 | 22790163 | 23019346 | 229183 | loss | external link | Gai, 2011 |
| AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 23017563 | T | A | Sanger and Sequenom | Michaelson JJ, 2012 |
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! | |||||||