Evidence Detail for TSC1

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Basic Information Top
Gene Symbol:TSC1 ( KIAA0243,LAM,MGC86987,TSC )
Gene Full Name: tuberous sclerosis 1
Band: 9q34
Quick LinksEntrez ID:7248; OMIM: 605284; Uniprot ID:TSC1_HUMAN; ENSEMBL ID: ENSG00000165699
Sequences Top
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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) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMTuberous sclerosis-1 (191100)
DescriptionTuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes. The frequency of tuberous sclerosis among patients with ASD in epidemiological samples is ~1%; the frequency of ASD in subjects with tuberous sclerosis varies between 16-60%
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
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Kelleher lii, 2012_1 human bloodASD Mutation screen
  • Subjects: 290
  • Normal Controls: 300
  • Methods: direct sequencing
  • Evidence Details: 8 functional rare mutation was found in ASD case, 0 in control
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000549 9 9q34.12-34.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000550 9 9q34.13-34.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000551 9 9q34.13-34.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
Linkage Studies Top

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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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