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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
Autism Spectrum Disorder Associated With a CACNA1I Variant of Uncertain Significance: A Case Report
ASD, DD, ID
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity
DD, ID
Autistic behavior, stereotypy, ADHD, epilepsy/seiz
Support
A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 channel activity.
SCZ
Support
Whole-genome sequencing identifies novel genes for autism in Chinese trios
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.
SCZ
Support
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
ASD
Support
Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder
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 
 c.4174G>A 
 p.Val1392Met 
 De novo 
  
 Simplex 
 GEN488R006 
 synonymous_variant 
 c.4146C>T 
 p.Ile1382= 
 De novo 
  
 Simplex 
 GEN488R007 
 stop_gained 
 c.2817C>G 
 p.Tyr939Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN488R008 
 missense_variant 
 c.4367G>T 
 p.Arg1456Leu 
 Unknown 
  
  
 GEN488R009 
 missense_variant 
 c.85C>T 
 p.Arg29Trp 
 Familial 
 Maternal 
  
 GEN488R010 
 missense_variant 
 c.4575G>A 
 p.Met1525Ile 
 Familial 
 Paternal 
  
 GEN488R011 
 missense_variant 
 c.5318G>A 
 p.Gly1773Asp 
 Familial 
 Maternal 
  
 GEN488R012 
 missense_variant 
 c.164C>T 
 p.Ala55Val 
 De novo 
  
  
 GEN488R013 
 missense_variant 
 c.220A>G 
 p.Lys74Glu 
 De novo 
  
  
 GEN488R014 
 missense_variant 
 c.707G>A 
 p.Arg236His 
 De novo 
  
  
 GEN488R015 
 missense_variant 
 c.932A>G 
 p.Asn311Ser 
 De novo 
  
  
 GEN488R016 
 missense_variant 
 c.1478G>T 
 p.Gly493Val 
 De novo 
  
  
 GEN488R017 
 missense_variant 
 c.1556C>G 
 p.Pro519Arg 
 De novo 
  
  
 GEN488R018 
 synonymous_variant 
 c.1737C>A 
 p.Ser579= 
 De novo 
  
  
 GEN488R019 
 splice_region_variant 
 c.5725+8G>T 
  
 De novo 
  
  
 GEN488R020 
 missense_variant 
 c.6247C>T 
 p.His2083Tyr 
 De novo 
  
  
 GEN488R021 
 missense_variant 
 c.6259G>C 
 p.Glu2087Gln 
 De novo 
  
  
 GEN488R022 
 synonymous_variant 
 c.1416G>A 
 p.Pro472= 
 De novo 
  
 Simplex 
 GEN488R023 
 missense_variant 
 c.1193C>A 
 p.Ala398Glu 
 De novo 
  
  
 GEN488R024 
 missense_variant 
 c.1193C>T 
 p.Ala398Val 
 De novo 
  
  
 GEN488R025 
 missense_variant 
 c.1193C>T 
 p.Ala398Val 
 De novo 
  
  
 GEN488R026 
 missense_variant 
 c.4273A>G 
 p.Met1425Val 
 Unknown 
 Not maternal 
  
 GEN488R027 
 missense_variant 
 c.5416G>T 
 p.Val1806Phe 
 Unknown 
  
  
 GEN488R028 
 missense_variant 
 c.4379A>C 
 p.Lys1460Thr 
 Unknown 
  
  
 GEN488R029 
 missense_variant 
 c.6028G>T 
 p.Ala2010Ser 
 De novo 
  
 Simplex 

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
 27
 
22
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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