Aliases: NF45, PRO3063
Chromosome No: 1
Chromosome Band: 1q21.3
Genetic Category: Rare single gene variant-
ASD Reports: 6
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 4
Evidence score: 3
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Relevance to Autism
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants observed in this gene were two de novo loss-of-function (LoF) variants.
Molecular Function
The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway.
External Links
