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Relevance to Autism

A case-control analysis of the frequency of ELP4 CNVs from 2,845 ASD cases compared with 6,469 control individuals identified a significant excess of CNVs in cases vs. controls (P=2.7 x 10-3) (Addis et al., 2015).

Molecular Function

The protein encoded by the ELP4 gene acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. This gene has also been associated with Rolandic epilepsy.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
ASD
Positive Association
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
Centrotemporal sharp wave EEG trait in rolandic ep
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Genome-wide characteristics of de novo mutations in autism.
ASD
Support
Pax6 3' deletion results in aniridia, autism and mental retardation.
ASD, ID
Aniridia

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN733R001 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN733R002 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN733R003 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN733R004 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN733R005 
 copy_number_loss 
  
  
 Unknown 
  
 Multiplex 
 GEN733R006 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN733R007 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN733R008 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN733R009 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN733R010 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN733R011 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN733R012 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN733R013 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN733R014 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN733R015 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN733R016 
 intron_variant 
 T>C 
  
 De novo 
  
 Simplex 
 GEN733R017 
 intron_variant 
 T>C 
  
  
  
 Unknown 
 GEN733R018 
 frameshift_variant 
 c.284delC 
 p.Ser95fs 
 Familial 
 Paternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 25
 
11
Deletion
 2
 
11
Deletion
 1
 
11
Deletion
 3
 
11
Deletion
 4
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 2
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Duplication
 1
 

No Animal Model Data Available

 

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