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Relevance to Autism

De novo variants in this gene were identified in two separate reports using ASD probands from the Simons Simplex Collection (Sanders et al. 2012a, 2012b)

Molecular Function

This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Movement disorder
Ataxia, chorea, dystonia, tremor
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN470R001 
 missense_variant 
 c.1807C>T 
 p.Arg603Cys 
 De novo 
 NA 
 Simplex 
 GEN470R002 
 missense_variant 
 c.1600G>A 
 p.Ala534Thr 
 De novo 
 NA 
 Simplex 
 GEN470R003 
 frameshift_variant 
 del(T) 
 p.Gln321ArgfsTer56 
 Familial 
 Paternal 
 Simplex 
 GEN470R004 
 synonymous_variant 
 c.2667C>T 
 p.Gly889%3D 
 De novo 
 NA 
 Unknown 
 GEN470R005 
 missense_variant 
 c.2371G>A 
 p.Asp1141Asn 
 Familial 
 Paternal 
  
 GEN470R006 
 missense_variant 
 c.2090G>T 
 p.Gly697Val 
 De novo (mosaic) 
  
  
 GEN470R007 
 missense_variant 
 c.1717G>A 
 p.Gly573Ser 
 Familial 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 1
 
3
Deletion-Duplication
 8
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015

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