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Relevance to Autism

De novo damaging missense variants in the EGR3 gene were identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014) and the SPARK cohort (Feliciano et al., 2019). A meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified EGR3 as a gene with a false discovery rate 0.2.

Molecular Function

This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1123R001 
 missense_variant 
 c.686A>T 
 p.Glu229Val 
 De novo 
  
  
 GEN1123R002 
 missense_variant 
 c.758A>G 
 p.Glu253Gly 
 De novo 
  
  
 GEN1123R003 
 synonymous_variant 
 c.807G>A 
 p.Pro269%3D 
 De novo 
  
  
 GEN1123R004 
 missense_variant 
 c.91A>G 
 p.Ser31Gly 
 De novo 
  
  
 GEN1123R005 
 synonymous_variant 
 c.102C>T 
 p.Asn34%3D 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
8
Deletion-Duplication
 14
 
8
Deletion
 1
 
8
Deletion-Duplication
 8
 
8
Duplication
 1
 
8
Duplication
 5
 
8
Duplication
 3
 
8
Duplication
 5
 
8
Duplication
 2
 
8
Duplication
 2
 
8
Duplication
 1
 
8
Duplication
 1
 
8
Deletion
 3
 
8
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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