Aliases: EIF3-P42, EIF3S4, eIF3-delta, eIF3-p44
Chromosome No: 19
Chromosome Band: 19p13.2
Genetic Category: Rare single gene variant-
ASD Reports: 4
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 4
Evidence score: 3
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).
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.