AutismKB

Evidence Detail for CACNA1H


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Basic Information Top
Gene Symbol:CACNA1H ( CACNA1HB,Cav3.2,ECA6,EIG6,FLJ90484 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1H subunit
Band: 16p13.3
Quick LinksEntrez ID:8912; OMIM: 607904; Uniprot ID:CAC1H_HUMAN; ENSEMBL ID: ENSG00000196557
Sequences Top
>CACNA1H|8912|nucleotide
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>CACNA1H|8912|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 (3) 1 (2) 0 (0) 1 (1) 10 (3)
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
Splawski, 2006_1 human -ASD genetics: mutation screen
  • Subjects: 461 AGRE patients
  • Normal Controls: 480
  • Methods: PCR, sequence
  • Evidence Details: We identify missense mutations in the calcium channel gene CACNA1H (T-type Ca(V)3.2) in 6 of 461 individuals with ASD. These mutations are located in conserved and functionally relevant domains and are absent in 480 ethnically matched controls (p = 0.014, Fisher's exact test).
Splawski, 2006_1 human -ASD protein function
  • Subjects: 461 AGRE patients
  • Normal Controls: 480
  • Methods: Biophysical Evaluation of the ASD Mutations and WT Ca(V)3.2 (cell culture, transfection, site-directed mutagenesis and electrophysiology)
  • Evidence Details: Functional analysis shows that all these mutations significantly reduce Ca(V)3.2 channel activity and thus could affect neuronal function and potentially brain development.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0003839 16 16p13.3 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0004325 16 16p13.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
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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