AutismKB

Evidence Detail for CASP3


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Basic Information Top
Gene Symbol:CASP3 ( CPP32,CPP32B,SCA-1 )
Gene Full Name: caspase 3, apoptosis-related cysteine peptidase
Band: 4q34
Quick LinksEntrez ID:836; OMIM: 600636; Uniprot ID:CASP3_HUMAN; ENSEMBL ID: ENSG00000164305
Sequences Top
>CASP3|836|nucleotide
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>CASP3|836|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) No 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
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
Sheikh, 2009_1 human brain tissueASD protein expression
  • Subjects: 7
  • Normal Controls: 7
  • Methods: Western blotting
  • Evidence Details: The expression of caspase-3, a critical executioner of apoptosis, was increased in the cerebellum of autistic subjects.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000060 4 4q34.3-35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000061 4 4q35.1-35.2 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
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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