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Relevance to Autism

A de novo deletion of the ATXN7 gene was identified in an autistic proband from a simplex family (van Daalen et al., 2011).

Molecular Function

Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Defects in ATXN7 are the cause of spinocerebellar ataxia type 7 (SCA7) [MIM:164500].

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN384R001 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 21
 
3
Deletion
 1
 
3
Deletion
 7
 
3
Deletion
 1
 
3
Deletion
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ATXN7L3 ataxin 7-like 3 56970 Q14CW9 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
TAF6L TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 10629 Q9Y6J9 IP; LC-MS/MS
Huttlin EL , et al. 2015

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