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Relevance to Autism

An intronic SNP in the CADPS gene (SNP ID rs1452075) was the index variant for a locus that demonstrated significant association with ASD in a genome-wide meta-analysis of cases and controls (P = 2.1E-07); multi-trait analysis of genome-wide association (MTAG) using GWAS data for ASD and educational attainment showed that this locus reached genome-wide significance (P = 3.17E-09) (Grove et al., 2019).

Molecular Function

This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2).

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Identification of common genetic risk variants for autism spectrum disorder.
ASD
Support
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Epilepsy/seizures
Support
Genome-wide association study identifies 74 loci associated with educational attainment.
Education attainment

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1079R001a 
 splice_site_variant 
 c.1753+1G>T 
  
  
 Both parents 
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN1079C001 
 intron_variant 
 rs1452075 
 c.2707-1723G>A;c.2638-2942G>A;c.2758-2942G>A 
  
 ASD cohort: 18,381 cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC). MTAG: 18,381 ASD cases and 27,969 controls, in addition to 328,917 individuals assessed for educational attainment from Okbay et al., 2016 (PMID 27225129) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 25
 
3
Deletion
 1
 
3
Deletion
 7
 
3
Deletion
 1
 
3
Deletion
 1
 

No Animal Model Data Available

 

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