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Relevance to Autism

A novel recurrent 24.7 kb duplication involving the SAE1 gene was identified in 3/696 ASD cases vs. 1/5,139 controls (FET two-tailed p = 0.00616) in Prasad et al., 2012. Additional duplications affecting the SAE1 gene have been observed in ASD probands (Pinto et al., 2010; Turner et al., 2016).

Molecular Function

Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Recent Recommendation
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN503R001 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN503R002 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN503R003 
 copy_number_gain 
  
  
 Unknown 
 Not maternal 
 Simplex 
 GEN503R004 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN503R005 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN503R006 
 copy_number_gain 
  
  
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 13
 
19
Duplication
 2
 

No Animal Model Data Available

 

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