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Relevance to Autism

A de novo nonsense variant in the ZC3H11A gene was identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014), and a de novo missense variant that was predicted to be damaging was identified in this gene in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ZC3H11A as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).

Molecular Function

Involved in nuclear mRNA export; probably mediated by association with the TREX complex.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Recent Recommendation
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1115R001 
 stop_gained 
 c.1321A>T 
 p.Lys441Ter 
 De novo 
  
  
 GEN1115R002 
 missense_variant 
 c.1224G>T 
 p.Glu408Asp 
 De novo 
  
 Simplex 
 GEN1115R003 
 synonymous_variant 
 c.1455G>A 
 p.Val485%3D 
 De novo 
  
  
 GEN1115R004 
 synonymous_variant 
 c.1821C>T 
 p.His607%3D 
 De novo 
  
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Duplication
 44
 
1
Duplication
 1
 
1
Deletion-Duplication
 19
 

No Animal Model Data Available

 

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