AutismKB 2.0

Variant Details for TUSC3


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Basic Information Top
Gene Symbol:TUSC3 ( D8S1992,M33,MGC13453,MRT7,N33,OST3A )
Gene Full Name: tumor suppressor candidate 3
Band: 8p22
Quick LinksEntrez ID:7991; OMIM: 601385; Uniprot ID:TUSC3_HUMAN; ENSEMBL ID: ENSG00000104723; HGNC ID: 30242
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 2 0 1 8
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000264 8 8p21-23 10000 29644081 29634081 gain external link Papanikolaou, 2006
AutCNV0000680 8 8p21.2-p23.1 12241093 26707917 14466824 gain external link Ozgen, 2009
AutCNV0001086 8 8p22 15402007 15432182 30175 loss external link Pinto, 2010
AutCNV0000704 8 8p22 12655629 19055720 6400091 loss external link Berkel, 2010
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
8 15616831 G C Sanger and 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
8 15669447 G C Doan RN, 2016
8 15669488 T G Doan RN, 2016
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
AutLD0000032 8p22 8 D8S261 1.12 - - Monaco, 2001




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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