AutismKB 2.0

Variant Details for DEAF1


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Basic Information Top
Gene Symbol:DEAF1 ( NUDR,SPN,ZMYND5 )
Gene Full Name: deformed epidermal autoregulatory factor 1 (Drosophila)
Band: 11p15.5
Quick LinksEntrez ID:10522; OMIM: 602635; Uniprot ID:DEAF1_HUMAN; ENSEMBL ID: ENSG00000177030; HGNC ID: 14677
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click 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 Top
iFish (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 deleterious0.6759 De Rubeis S, 2014
11 687919 A G Sanger sequencing deleterious0.7282 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!




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Syndromic Genes

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AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018