Variant Details for CASK
Basic Information Top
| Gene Symbol: | CASK ( CAGH39,CAMGUK,CMG,FGS4,FLJ22219,FLJ31914,LIN2,MICPCH,TNRC8 ) |
|---|---|
| Gene Full Name: | calcium/calmodulin-dependent serine protein kinase (MAGUK family) |
| Band: | Xp11.4 |
| Quick Links | Entrez ID:8573; OMIM: 300172; Uniprot ID:CSKP_HUMAN; ENSEMBL ID: ENSG00000147044; HGNC ID: 1497 |
| 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 | 3 | 2 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000769 | X | Xp11.4 | 41556555 | 41593559 | 37004 | gain | external link | Pinto, 2010 |
| AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 2011 |
| AutCNV0004835 | X | Xp11.4 | 41339667 | 41811516 | 471849 | loss | external link | Asadollahi R, 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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 41524649 | C | T | c.589G>A | p.Gly197Arg | Sanger sequencing | deleterious | 0.9794 | Sanders SJ, 2012 |
| X | 41519760 | G | A | deleterious | 0.9635 | Deciphering Developmental , 2015 |
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! | |||||||