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Relevance to Autism

De novo variants in the EIF3G gene, including a missense variant and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator, have been identified in ASD probands from the Simons Simplex Collection (O'Roak et al., 2012; Iossifov et al., 2012). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 5.02E-04 (Takata et al., 2016).

Molecular Function

The protein encoded by this gene is a component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN808R001 
 missense_variant 
 c.847G>A 
 p.Ala283Thr 
 De novo 
 NA 
 Simplex 
 GEN808R002 
 synonymous_variant 
 c.142C>T 
 p.Leu48= 
 De novo 
 NA 
 Simplex 
 GEN808R003 
 missense_variant 
 c.577A>G 
 p.Lys193Glu 
 De novo 
 NA 
 Multiplex 
 GEN808R004 
 missense_variant 
 c.701G>A 
 p.Arg234Lys 
 De novo 
 NA 
 Simplex 
 GEN808R005 
 downstream_gene_variant 
  
  
 De novo 
 NA 
 Simplex 
 GEN808R006 
 downstream_gene_variant 
  
  
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 28
 
19
Deletion-Duplication
 3
 
19
Duplication
 1
 
19
Duplication
 1
 

No Animal Model Data Available

 

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