Variant Details for CADPS2
Basic Information Top
| Gene Symbol: | CADPS2 ( FLJ40851,KIAA1591 ) |
|---|---|
| Gene Full Name: | Ca++-dependent secretion activator 2 |
| Band: | 7q31.32 |
| Quick Links | Entrez ID:93664; OMIM: 609978; Uniprot ID:CAPS2_HUMAN; ENSEMBL ID: ENSG00000081803; HGNC ID: 16018 |
| 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 | 1 | 0 | 1 | 7 | 1 | 19 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000120 | 7 | 7q31.32 | 121949049 | 122697049 | 748000 | loss | external link | Szatmari, 2007 |
| AutCNV0000216 | 7 | 7q31.32 | 121210653 | 122152426 | 941773 | loss | external link | Christian, 2008 |
| AutCNV0000143 | 7 | 7q31.1-32.2 | 113741049 | 129227770 | 15486721 | loss | external link | Marshall, 2008 |
| AutCNV0000512 | 7 | 7q31.32 | 122489131 | 123122780 | 633649 | gain | external link | Gregory, 2009 |
| AutCNV0004269 | 7 | 7q31.1-q32.1 | 113547764 | 129034485 | 15486721 | loss | external link | Sanders, 2011 |
| AutCNV0003795 | 7 | 7q31.31 | 119712764 | 125112764 | 5400000 | loss | external link | Okamoto, 2011 |
| AutCNV0003611 | 7 | 7q31.32 | 121202222 | 122718038 | 1515816 | loss | external link | Gai, 2011 |
| AutCNV0004903 | 3 | 3p26.3 | gain | Hu J, 2015 | ||||
| AutCNV0004902 | 3 | 3p26.3 | gain | Hu J, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 0 | Redin C, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 122338970 | C | T | Y | Cukier HN, 2014 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 122526314 | G | A | p.Ala26= | Bonora E, 2014 | ||||
| 7 | 122255252 | G | C | p.Ala402= | Bonora E, 2014 | ||||
| 7 | 122114544 | A | G | p.Met630Thr | deleterious | 0.832 | Bonora E, 2014 | ||
| 7 | 122114500 | A | C | p.Phe645Val | neutral | 0.1916 | Bonora E, 2014 | ||
| 7 | 122027130 | C | T | p.Asp1088Asn | deleterious | 0.8274 | Bonora E, 2014 | ||
| 7 | 122019472 | C | T | p.Asp1113Asn | neutral | 0.0641 | Bonora E, 2014 | ||
| 7 | 122001046 | C | T | p.Val1137Met | neutral | 0.1527 | Bonora E, 2014 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000153 | 7q31.31-q32.3 | 7 | rs1990790 | 1.97 | - | - | Allen-Brady, 2010 |