AutismKB 2.0

Variant Details for PTEN


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Basic Information Top
Gene Symbol:PTEN ( 10q23del,BZS,DEC,GLM2,MGC11227,MHAM,MMAC1,PTEN1,TEP1 )
Gene Full Name: phosphatase and tensin homolog
Band: 10q23.31
Quick LinksEntrez ID:5728; OMIM: 601728; Uniprot ID:PTEN_HUMAN; ENSEMBL ID: ENSG00000171862; HGNC ID: 9588
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 0 18 0 7 5 1 31
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
No related data!
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
10 89711882 C M Sanger sequencing O'Roak BJ, 2012
10 89692908 C Y p.Thr131Ile Sanger sequencing deleterious0.9811 O'Roak BJ, 2012
10 89692920 * +A/* p.Cys136MetfsX44 Sanger sequencing O'Roak BJ, 2012
10 89711882 C M p.Thr167Asn Sanger sequencing O'Roak BJ, 2012
10 89711874 G A Sanger sequencing De Rubeis S, 2014
10 89692790 G A c.274G>A p.Asp92Asn PCR and Sanger sequencingneutral0.4072 O'Roak BJ, 2014
10 89692818 T C c.302T>C p.Ile101Thr PCR and Sanger sequencing deleterious0.9968 O'Roak BJ, 2014
10 89692836 A T c.320A>T p.Asp107Val PCR and Sanger sequencing deleterious0.9954 O'Roak BJ, 2014
10 89692960 C T HiSeq X and Sanger C Yuen RK, 2017
10 89692960 C T HiSeq X and Sanger C Yuen RK, 2017
10 89692790 c.274G>A p.D92N neutral0.4072 Saskin A, 2017
10 89692908 c.392C>T p.T131I deleterious0.9811 Saskin A, 2017
10 89711882 c.500C>A p.T167N Saskin A, 2017
10 89692908 C T c.392C>T p.Thr131Ile Y deleterious0.9892 O'Roak BJ, 2014
10 89692920 T TA c.404_405insA p.Cys136MetfsTer44 Y O'Roak BJ, 2014
10 89702928 C p.Thr131Ile O'Roak BJ, 2012
10 89702940 p.Cys136MetfsX44 O'Roak BJ, 2012
10 89721902 C p.Thr167Asn O'Roak BJ, 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
c.239-21G>C Y Codina-Sol, 2015
10 89727635 C Y p.Gln214X O'Roak BJ, 2012
10 89717615 C T Iossifov I, 2015
10 89624269 A c.43delA p.R15Dfs*9 Marchese M, 2014
10 89692913 c.397G>A p.V133I Saskin A, 2017
10 89653851 c.149T>C p.I50T Saskin A, 2017
10 89653781 c.80-1G>A Saskin A, 2017
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
Butler, 2005
Herman, 2007
Buxbaum, 2007
Varga, 2009
Conti, 2011
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
AutLD0000090 10q23.31 10 D10S2327 - 1.48 - Buxbaum, 2004




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  (e.g. CHD8)

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


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