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Relevance to Autism

This gene was identified in an ASD whole-exome sequencing study and subsequent TADA (transmission and de novo association) analysis as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (De Rubeis et al., 2014).

Molecular Function

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Deficiencies in this gene have been implicated in glutaric aciduria 2B (GA2B) [MIM:231680].

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN658R001 
 stop_gained 
 c.991G>T 
 p.Glu331Ter 
 De novo 
 NA 
 Simplex 
 GEN658R002 
 frameshift_variant 
 TCA>T 
  
 Familial 
 Paternal 
 Simplex 
 GEN658R003 
 stop_gained 
 c.748A>T 
 p.Lys250Ter 
 Familial 
 Paternal 
 Simplex 
 GEN658R004 
 missense_variant 
 c.697C>T 
 p.Leu233Phe 
 Familial 
 Paternal 
 Simplex 
 GEN658R005 
 missense_variant 
 c.500G>A 
 p.Arg167His 
 Familial 
 Maternal 
 Multiplex 
 GEN658R006 
 missense_variant 
 c.355G>A 
 p.Gly119Ser 
 Familial 
 Paternal 
 Multiplex 
 GEN658R007 
 frameshift_variant 
 c.263dup 
 p.Leu88PhefsTer14 
 Unknown 
  
 Unknown 
 GEN658R008 
 stop_gained 
 c.1021A>T 
 p.Lys341Ter 
 Unknown 
  
 Unknown 
 GEN658R009 
 missense_variant 
 c.697C>T 
 p.Leu233Phe 
 Unknown 
  
 Unknown 
 GEN658R010 
 missense_variant 
 c.380A>G 
 p.His127Arg 
 De novo 
 NA 
  
 GEN658R011 
 missense_variant 
 c.217G>A 
 p.Ala73Thr 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Duplication
 1
 
19
Deletion-Duplication
 18
 
19
Duplication
 1
 

No Animal Model Data Available

 

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