Variant Details for DLG2
Basic Information Top
| Gene Symbol: | DLG2 ( DKFZp781D1854,DKFZp781E0954,FLJ37266,MGC131811,PSD-93,PSD93,chapsyn-110 ) |
|---|---|
| Gene Full Name: | discs, large homolog 2 (Drosophila) |
| Band: | 11q14.1 |
| Quick Links | Entrez ID:1740; OMIM: 603583; Uniprot ID:DLG2_HUMAN; ENSEMBL ID: ENSG00000150672; HGNC ID: 2901 |
| 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 | 1 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000324 | 11 | 11q14.1 | 84354568 | 84598945 | 244377 | loss | external link | Cusco, 2008 |
| AutCNV0003829 | 11 | 11q14.1 | 84553565 | 84586441 | 32876 | gain | external link | Levy, 2011 |
| AutCNV0005840 | 11 | 11q14.1 | 83108466 | 83378706 | 270240 | gain | external link | Egger G, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 83497765 | G | C | Sanger sequencing | neutral | 0.0032 | 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! | |||||||