Single-gene expression analysis of brain cortical tissue samples from 47 ASD cases and 57 controls identified EMSY (formerly known as C11orf30) as a gene showing transcriptome-wide significant differential gene expression (0.6-fold decrease) between autism and control brains (P=3.29E-07; threshold for transcriptome-wide significance set at P<4.76E-07) (Gupta et al., 2014). A de novo LoF variant in this gene was also identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014).
Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin.
Type of Disorder
Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.