Variant Details for DEAF1
Basic Information Top
| Gene Symbol: | DEAF1 ( NUDR,SPN,ZMYND5 ) |
|---|---|
| Gene Full Name: | deformed epidermal autoregulatory factor 1 (Drosophila) |
| Band: | 11p15.5 |
| Quick Links | Entrez ID:10522; OMIM: 602635; Uniprot ID:DEAF1_HUMAN; ENSEMBL ID: ENSG00000177030; HGNC ID: 14677 |
| 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 | 5 | 0 | 1 | 1 | 0 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000562 | 11 | 11p15.5 | 60000 | 1041115 | 981115 | loss | external link | Gregory, 2009 |
| AutCNV0000561 | 11 | 11p15.5 | 60001 | 828406 | 768405 | gain | external link | Gregory, 2009 |
| AutCNV0004292 | 11 | 11p15.5 | 589564 | 656845 | 67281 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 687917 | C | T | Sanger sequencing | deleterious | 0.6759 | De Rubeis S, 2014 | ||
| 11 | 687919 | A | G | Sanger sequencing | deleterious | 0.7282 | De Rubeis S, 2014 | ||
| 11 | 688377 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 0 | p.Gln264 | Geisheker MR, 2017 | |||||||
| 0 | p.Leu219-p.Gly220 | Geisheker MR, 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 |
|---|---|---|---|---|---|---|---|---|---|
| c.997+4A>C | p.? | Trujillano D, 2017 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 680959 | c.997+4A>C | Y | Rajab A, 2015 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||