AutismKB 2.0

Variant Details for WDR70


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Basic Information Top
Gene Symbol:WDR70 ( FLJ10233 )
Gene Full Name: WD repeat domain 70
Band: 5p13.2
Quick LinksEntrez ID:55100; OMIM: NA; Uniprot ID:WDR70_HUMAN; ENSEMBL ID: ENSG00000082068; HGNC ID: 25495
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 4 1 0 0 0 0 5
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0002536 5 5p13.2 37184364 37391614 207250 gain external link Pinto, 2010
AutCNV0001749 5 5p13.2 37285525 37588460 302935 gain external link Pinto, 2010
AutCNV0003558 5 5p13.2 37430215 37737047 306832 gain external link Gai, 2011
AutCNV0003557 5 5p13.2 37364693 37737047 372354 gain external link Gai, 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
5 37744844 T C Sequenom Michaelson JJ, 2012
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!




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Syndromic Genes

Non-syndromic Genes

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