ELP4
Homo sapiens
Gene Name: Elongator acetyltransferase complex subunit 4
Aliases: AN, C11orf19, PAX6NEB, PAXNEB, dJ68P15A.1, hELP4
Chromosome No: 11
Chromosome Band: 11p13
Genetic Category: Multigenic CNV-Genetic association-Rare single gene variant
Aliases: AN, C11orf19, PAX6NEB, PAXNEB, dJ68P15A.1, hELP4
Chromosome No: 11
Chromosome Band: 11p13
Genetic Category: Multigenic CNV-Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 19
Associated CNVs: 14
Evidence score: 2
ASD Reports: 7
Recent Reports: 0
Annotated variants: 19
Associated CNVs: 14
Evidence score: 2
| Associated Disorders: |
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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
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
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
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
GEN733R018
frameshift_variant
c.284del
p.Ser95TyrfsTer64
Familial
Paternal
Simplex
GEN733R019
frameshift_variant
c.884_885del
p.Thr295IlefsTer17
Familial
Maternal
Multiplex
Common
No Common Variants Available
