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Relevance to Autism

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).

Molecular Function

Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN669R001 
 stop_gained 
 c.1808T>A 
 p.Leu603Ter 
 De novo 
  
 Simplex 
 GEN669R002 
 frameshift_variant 
 ins(A) 
  
 Familial 
 Maternal 
 Simplex 
 GEN669R003 
 missense_variant 
 c.583G>A 
 p.Gly195Ser 
 Familial 
 Paternal 
 Simplex 
 GEN669R004 
 missense_variant 
 c.503C>G 
 p.Ala168Gly 
 Familial 
 Maternal (n=1), paternal (n=1) 
 Simplex 
 GEN669R005 
 missense_variant 
 c.928C>T 
 p.Pro310Ser 
 Familial 
 Maternal 
 Simplex 
 GEN669R006 
 splice_site_variant 
 c.1364-1G>C 
  
 Unknown 
  
 Unknown 
 GEN669R007 
 missense_variant 
 c.765G>C 
 p.Lys255Asn 
 Unknown 
  
 Unknown 
 GEN669R008 
 missense_variant 
 c.535A>G 
 p.Ser179Gly 
 Unknown 
  
 Unknown 
 GEN669R009 
 missense_variant 
 c.3022C>A 
 p.Gln1008Lys 
 Unknown 
  
 Unknown 
 GEN669R010 
 missense_variant 
 c.3086A>G 
 p.Asp1029Gly 
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Deletion
 1
 
11
Deletion
 1
 

No Animal Model Data Available

No PIN Data Available
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