Aliases: DBI-1, DDX26, DDX26A, DICE1, HDB, INT6, Notchl2
Chromosome No: 13
Chromosome Band: 13q14.3
Genetic Category: Rare single gene variant-
ASD Reports: 6
Recent Reports: 2
Annotated variants: 4
Associated CNVs: 13
Evidence score: 3
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Relevance to Autism
Two de novo variants (one nonsense, one missense) in the INTS6 gene were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014. Krumm et al., 2015 reported that no de novo SNVs in this gene were observed in SSC unaffected siblings (de novo SNV P-value <0.05), and no rare effect types were reported in the Exome Variant Server. 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).
Molecular Function
The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs.
External Links
