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Relevance to Autism

An imputed SNP within the CACNA1I gene (rs5750860) showed association with ASD in a family-based association study in a combined sample of 2,781 parent/affected child trios from 543 multiplex Caucasian ASD families from the Autism Genetics Resource Exchange (AGRE) and 1,651 multiplex and simplex Caucasian ASD families from the Autism Genome Project (AGP) (Lu et al., 2012).

Molecular Function

This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Support for calcium channel gene defects in autism spectrum disorders.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 channel activity.
SCZ
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.
SCZ
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN488R001 
 missense_variant 
 c.2390C>T 
 p.Thr797Met 
 De novo 
  
 Simplex 
 GEN488R002 
 missense_variant 
 c.3932G>A 
 p.Arg1311His 
 De novo 
  
 Simplex 
 GEN488R003 
 missense_variant 
 c.4781G>A 
 p.Arg1594Gln 
 De novo 
  
  
 GEN488R004 
 missense_variant 
 c.5509G>A 
 p.Gly1837Ser 
 De novo 
  
  
 GEN488R005 
 missense_variant 
 G>A 
 p.Val1392Met 
 De novo 
  
  
 GEN488R006 
 synonymous_variant 
 C>T 
 I1382 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN488C001 
 intron_variant 
 rs5750860 
 c.581-4536C>T 
 T/C 
 2781 Caucasian parent/child trios (1103 from 543 AGRE families and 1678 from 1651 AGP families) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 24
 
22
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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