Variant Details for DLGAP2
Basic Information Top
| Gene Symbol: | DLGAP2 ( DAP2,SAPAP2 ) |
|---|---|
| Gene Full Name: | discs, large (Drosophila) homolog-associated protein 2 |
| Band: | 8p23.3 |
| Quick Links | Entrez ID:9228; OMIM: 605438; Uniprot ID:DLGP2_HUMAN; ENSEMBL ID: ENSG00000198010; HGNC ID: 2906 |
| 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 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000271 | 8 | 8p23 | 10000 | 12655629 | 12645629 | loss | external link | Wassink, 2001 |
| AutCNV0000250 | 8 | 8p23.3-23.2 | 10000 | 6212592 | 6202592 | loss | external link | Yu, 2002 |
| AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
| AutCNV0000023 | 8 | 8p23.1-23.3 | 1143493 | 6793540 | 5650047 | loss | external link | Szatmari, 2007 |
| AutCNV0000145 | 8 | 8p23.3 | 720491 | 1514173 | 793682 | gain | external link | Marshall, 2008 |
| AutCNV0000813 | 8 | 8p23.3 | 714383 | 1534503 | 820120 | gain | external link | Pinto, 2010 |
| AutCNV0004274 | 8 | 8p23.3 | 720491 | 1514173 | 793682 | gain | external link | Sanders, 2011 |
| AutCNV0004273 | 8 | 8p23.3 | 714383 | 1534503 | 820120 | gain | external link | Sanders, 2011 |
| AutCNV0005870 | 8 | 8p23.3 | 1603885 | 1625406 | 21521 | loss | external link | Alvarez-Mora MI, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 1497496 | A | G | Sanger sequencing | neutral | 0.0415 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 1624708 | G | C | 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! | |||||||