Variant Details for GJA8
Basic Information Top
| Gene Symbol: | GJA8 ( CAE,CAE1,CX50,CZP1,MP70 ) |
|---|---|
| Gene Full Name: | gap junction protein, alpha 8, 50kDa |
| Band: | 1q21.2 |
| Quick Links | Entrez ID:2703; OMIM: 600897; Uniprot ID:CXA8_HUMAN; ENSEMBL ID: ENSG00000121634; HGNC ID: 4281 |
| 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 | 9 | 0 | 0 | 1 | 0 | 0 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000032 | 1 | 1q21.1 | 146555184 | 147779088 | 1223904 | gain | external link | Szatmari, 2007 |
| AutCNV0000401 | 1 | 1q21-22 | 145958564 | 148219890 | 2261326 | gain | external link | Gregory, 2009 |
| AutCNV0000782 | 1 | 1q21.1 | 146127237 | 147841663 | 1714426 | gain | external link | Pinto, 2010 |
| AutCNV0004193 | 1 | 1q21.1 | 146547095 | 147826658 | 1279563 | loss | external link | Sanders, 2011 |
| AutCNV0004192 | 1 | 1q21.1 | 146126818 | 147858208 | 1731390 | gain | external link | Sanders, 2011 |
| AutCNV0004191 | 1 | 1q21.1 | 145900678 | 147858944 | 1958266 | gain | external link | Sanders, 2011 |
| AutCNV0003124 | 1 | 1q21.1 | 146503841 | 147826658 | 1322817 | gain | external link | Gai, 2011 |
| AutCNV0003123 | 1 | 1q21.1 | 146501348 | 147826658 | 1325310 | gain | external link | Gai, 2011 |
| AutCNV0004753 | 9 | loss | Lionel AC, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 147380740 | A | G | Y | Cukier HN, 2014 |
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! | |||||||