Variant Details for CSNK1E
Basic Information Top
| Gene Symbol: | CSNK1E ( HCKIE,MGC10398 ) |
|---|---|
| Gene Full Name: | casein kinase 1, epsilon |
| Band: | 22q13.1 |
| Quick Links | Entrez ID:1454; OMIM: 600863; Uniprot ID:KC1E_HUMAN; ENSEMBL ID: ENSG00000213923; HGNC ID: 2453 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000282 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | loss | external link | Prasad, 2000 |
| AutCNV0000277 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | gain | external link | Wassink, 2001 |
| AutCNV0000440 | 22 | 22q13.1 | 38410041 | 38847266 | 437225 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 38694937 | C | T | Sanger sequencing | deleterious | 0.9993 | De Rubeis S, 2014 | ||
| 22 | 38696888 | T | A | Sanger sequencing | deleterious | 0.8718 | De Rubeis S, 2014 |
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! | |||||||