Variant Details for CDKL5
Basic Information Top
| Gene Symbol: | CDKL5 ( ISSX,STK9 ) |
|---|---|
| Gene Full Name: | cyclin-dependent kinase-like 5 |
| Band: | Xp22.13 |
| Quick Links | Entrez ID:6792; OMIM: 300203; Uniprot ID:CDKL5_HUMAN; ENSEMBL ID: ENSG00000008086; HGNC ID: 11411 |
| 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 | 7 | 1 | 0 | 9 | 1 | 0 | 18 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000671 | X | Xp22.1-p22.3 | 6644160 | 24159444 | 17515284 | loss | external link | Vazna, 2010 |
| AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 2011 |
| AutCNV0005015 | X | Xp22.13 | 18221537 | 19156151 | 934614 | gain | external link | Szafranski P, 2015 |
| AutCNV0005019 | X | Xp22.13 | 18460071 | 19094977 | 634906 | gain | external link | Szafranski P, 2015 |
| AutCNV0005018 | X | Xp22.13 | 18460072 | 19101792 | 641720 | gain | external link | Szafranski P, 2015 |
| AutCNV0005017 | X | Xp22.13 | 18336700 | 18876286 | 539586 | gain | external link | Szafranski P, 2015 |
| AutCNV0005016 | X | Xp22.13 | 18367552 | 19156151 | 788599 | gain | external link | Szafranski P, 2015 |
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 | 18668586 | C | C/T | c.2854C>T | p.Arg952* | Sanger sequencing | Wang T, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| p.P647L | Y | Codina-Sol, 2015 | |||||||
| X | 18646629 | CT | - | c.2635_2636delCT | p.(Leu879Glufs*30) | Lionel AC, 2018 | |||
| X | 18606108 | G | C/G | Y | Wang T, 2016 | ||||
| X | 18622630 | G | C/G | Y | Wang T, 2016 | ||||
| X | 18638000 | A | A/G | Y | Wang T, 2016 | ||||
| X | 18622983 | C | A/C | Y | deleterious | 0.939 | Wang T, 2016 | ||
| X | 18622983 | C | A | c.2497A4T | p.K833X | Li J, 2017 | |||
| X | 18445494 | - | AGCTGTAG | Doan RN, 2016 | |||||
| X | 18445678 | G | A | Doan RN, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| c.1649G>A | p.R550Q | Wong VC, 2015 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||