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Relevance to Autism

A de novo damaging missense variant in the SH3RF3 gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a de novo likely gene-disruptive variant in this gene was identified in an ASD proband from 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 SH3RF3 as a gene with a false discovery rate 0.2.

Molecular Function

The protein encoded by this gene has E3 ubiquitin-protein ligase activity.

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
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1125R001 
 missense_variant 
 c.2608C>T 
 p.Arg870Cys 
 De novo 
  
 Simplex 
 GEN1125R002 
 frameshift_variant 
 c.1544del 
 p.Phe515SerfsTer6 
 De novo 
  
  
 GEN1125R003 
 missense_variant 
 c.2485C>T 
 p.Arg829Cys 
 De novo 
  
 Simplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
Duplication
 4
 
2
Duplication
 2
 
2
Duplication
 1
 
2
Deletion-Duplication
 2
 
2
Deletion-Duplication
 46
 

No Animal Model Data Available

 

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