Aliases: KIAA0934
Chromosome No: 10
Chromosome Band: 10p15.3
Genetic Category: Rare single gene variant
ASD Reports: 7
Recent Reports: 2
Annotated variants: 29
Associated CNVs: 10
Evidence score: 4
Associated Disorders: |
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Relevance to Autism
A de novo loss-of-function (LoF) variant in the DIP2C gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a simplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), DIP2C was determined to be an ASD candidate gene in Yuen et al., 2017.
Molecular Function
This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system.