Variant Details for CACNA1E
Basic Information Top
| Gene Symbol: | CACNA1E ( BII,CACH6,CACNL1A6,Cav2.3 ) |
|---|---|
| Gene Full Name: | calcium channel, voltage-dependent, R type, alpha 1E subunit |
| Band: | 1q25.3 |
| Quick Links | Entrez ID:777; OMIM: 601013; Uniprot ID:CAC1E_HUMAN; ENSEMBL ID: ENSG00000198216; HGNC ID: 1392 |
| 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 | 1 | 5 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000728 | 1 | 1q25.3-q31.1 | 181099267 | 187997356 | 6898089 | loss | external link | Bremer, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 181708295 | G | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 1 | 181721285 | C | T | c.3738C>T | p.Asn1246Asn | Sanger sequencing | Neale BM, 2012 | ||
| 1 | 181721285 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 1 | 181767871 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 1 | 181686288 | C | T | deleterious | 0.9758 | Chen R, 2017 |
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! | |||||||