Variant Details for DLG1
Basic Information Top
| Gene Symbol: | DLG1 ( DKFZp761P0818,DKFZp781B0426,DLGH1,SAP-97,SAP97,dJ1061C18.1.1,hdlg ) |
|---|---|
| Gene Full Name: | discs, large homolog 1 (Drosophila) |
| Band: | 3q29 |
| Quick Links | Entrez ID:1739; OMIM: 601014; Uniprot ID:DLG1_HUMAN; ENSEMBL ID: ENSG00000075711; HGNC ID: 2900 |
| 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 | 0 | 1 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004233 | 3 | 3q29 | 195676676 | 197366632 | 1689956 | loss | external link | Sanders, 2011 |
| AutCNV0003811 | 3 | 3q29 | 195723966 | 197354025 | 1630059 | loss | external link | Levy, 2011 |
| AutCNV0005037 | 3 | 3q29 | 195788299 | 197033296 | 1244997 | loss | external link | Cox DM, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 3 | 197023283 | G | A | Mosaic | Krupp DR, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000048 | 3q29 | 3 | D3S2418 | 2.45 | - | - | Risch, 1999 |