Variant Details for DOCK4
Basic Information Top
| Gene Symbol: | DOCK4 ( FLJ34238,KIAA0716,MGC134911,MGC134912 ) |
|---|---|
| Gene Full Name: | dedicator of cytokinesis 4 |
| Band: | 7q31.1 |
| Quick Links | Entrez ID:9732; OMIM: 607679; Uniprot ID:DOCK4_HUMAN; ENSEMBL ID: ENSG00000128512; HGNC ID: 19192 |
| 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 | 1 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000142 | 7 | 7q31.1-31.31 | 108606430 | 119629936 | 11023506 | loss | external link | Marshall, 2008 |
| AutCNV0000679 | 7 | 7q31.1 | 110920302 | 111662871 | 742569 | gain | external link | Maestrini, 2009 |
| AutCNV0000668 | 7 | 7q31.1 | 110459927 | 111479124 | 1019197 | loss | external link | Pagnamenta, 2010 |
| AutCNV0000667 | 7 | 7q31.1 | 110467221 | 111479124 | 1011903 | loss | external link | Pagnamenta, 2010 |
| AutCNV0000666 | 7 | 7q31.1 | 110879251 | 111469572 | 590321 | loss | external link | Pagnamenta, 2010 |
| AutCNV0000665 | 7 | 7q31.1 | 110867535 | 111469572 | 602037 | loss | external link | Pagnamenta, 2010 |
| AutCNV0004266 | 7 | 7q31.1-q31.31 | 108413145 | 119436651 | 11023506 | loss | external link | Sanders, 2011 |
| AutCNV0003934 | 7 | 7q31.1 | 111825777 | 111860544 | 34767 | gain | external link | Levy, 2011 |
| AutCNV0004268 | 7 | 7q31.1 | 111278445 | 111666943 | 388498 | gain | external link | Sanders, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 111428810 | G | A | M1I | Toma C, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000058 | 7q31.1 | 7 | D7S523 | 1.02 | - | - | Liu, 2001 |