AutismKB

Evidence Detail for TSC2


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Basic Information Top
Gene Symbol:TSC2 ( FLJ43106,LAM,TSC4 )
Gene Full Name: tuberous sclerosis 2
Band: 16p13.3
Quick LinksEntrez ID:7249; OMIM: 191092; Uniprot ID:TSC2_HUMAN; ENSEMBL ID: ENSG00000103197
Sequences Top
>TSC2|7249|nucleotide
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>TSC2|7249|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (1) 1 (2) 1 (2) 2 (2) 20 (6)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMTuberous sclerosis-2 (191100)
DescriptionTuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes (see TSC1 above, 9q34.13)
Reference(s)9394941; 8132114; 14985384; 17936687; 16901420;
LevelLevel 4: The disorder is a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Kelleher lii, 2012_1 human bloodASD Mutation screen
  • Subjects: 290
  • Normal Controls: 300
  • Methods: direct sequencing
  • Evidence Details: 14 functional rare mutation was found in ASD case, 5 in control
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000091 16p13 16 D16S2619 - 2.17 - Buxbaum, 2004
AutLD0000138 16p13.3 16 D16S748 - - 0.00117 Lauritsen, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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