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Relevance to Autism

Two de novo missense variants in the MYO5A gene had previously been identified in ASD probands (one proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, the other from the Simons Simplex Collection in Iossifov et al., 2014). Two additional de novo missense variants in this gene were identified by whole genome sequencing in two ASD probands as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of four de novo missense variants in ASD cases, a z-score > 2.0 for missense mutations, and a higher-than expected mutation rate (a false discovery rate < 15%), MYO5A was determined to be an ASD candidate gene in Yuen et al., 2017.

Molecular Function

This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN892R001 
 missense_variant 
 c.368T>G 
 p.Ile123Ser 
 De novo 
 NA 
  
 GEN892R002 
 missense_variant 
 c.1958C>G 
 p.Thr653Ser 
 De novo 
 NA 
 Simplex 
 GEN892R003 
 missense_variant 
 c.1961C>A 
 p.Thr654Asn 
 De novo 
 NA 
 Multiplex 
 GEN892R004 
 missense_variant 
 c.4010C>T 
 p.Ala1337Val 
 De novo 
 NA 
 Multiplex 
 GEN892R005 
 missense_variant 
 c.4919G>T 
 p.Gly1640Val 
 De novo 
 NA 
 Multiplex 
 GEN892R006 
 missense_variant 
 c.1331T>A 
 p.Phe444Tyr 
 De novo 
 NA 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN892C001 
 allele 
 chr15_52811815_D 
  
  
 7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion
 2
 
15
Deletion
 1
 
15
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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