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Relevance to Autism

Two de novo missense variants in the ELAVL3 gene were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014. Krumm et al., 2015 reported that no de novo SNVs in this gene were observed in SSC unaffected siblings (de novo SNV P-value <0.05), and no rare effect types were reported in the Exome Variant Server.

Molecular Function

A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Elavl3 is essential for the maintenance of Purkinje neuron axons.
Support
Excess of rare, inherited truncating mutations in autism.
Support
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN753R001 
 missense_variant 
 c.245A>T 
 p.Tyr82Phe 
 De novo 
 NA 
 Simplex 
 GEN753R002 
 missense_variant 
 c.557T>C 
 p.Leu186Pro 
 De novo 
 NA 
 Simplex 
 GEN753R003 
 intron_variant 
 c.333+78_333+81del 
  
 De novo 
 NA 
 Simplex 
 GEN753R004 
 missense_variant 
 c.139C>T 
 p.Pro47Ser 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 28
 
19
Deletion-Duplication
 5
 
19
Deletion-Duplication
 3
 
19
Duplication
 1
 
19
Duplication
 1
 

No Animal Model Data Available

 

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