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Relevance to Autism

Barish et al., 2020 identified 12 individuals with rare variants in the BICRA gene that exhibited neurodevelopmental phenotypes including developmental delay, intellectual disability, autism spectrum disorder, and behavioral abnormalities as well as dysmorphic features.

Molecular Function

Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May play a role in BRD4-mediated gene transcription.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
DD, ID
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1224R001 
 frameshift_variant 
 c.936del 
 p.Ala313ProfsTer30 
 De novo 
 NA 
 Simplex 
 GEN1224R002 
 frameshift_variant 
 c.1574del 
 p.Ser525ThrfsTer199 
 Unknown 
 Not maternal 
 Simplex 
 GEN1224R003 
 stop_gained 
 c.1993C>T 
 p.Gln665Ter 
 De novo 
 NA 
  
 GEN1224R004 
 frameshift_variant 
 c.2075_2078del 
 p.Thr692ArgfsTer31 
 De novo 
 NA 
 Simplex 
 GEN1224R005 
 frameshift_variant 
 c.2479_2480delinsA 
 p.Ala827ThrfsTer15 
 De novo 
 NA 
 Simplex 
 GEN1224R006 
 frameshift_variant 
 c.3247dup 
 p.Cys1083LeufsTer26 
 De novo 
 NA 
 Multiplex 
 GEN1224R007 
 stop_gained 
 c.4369C>T 
 p.Gln1457Ter 
 De novo 
 NA 
  
 GEN1224R008 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN1224R009 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1224R010 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1224R011 
 missense_variant 
 c.192G>C 
 p.Glu64Asp 
 De novo 
 NA 
 Simplex 
 GEN1224R012 
 missense_variant 
 c.4267G>A 
 p.Glu1423Lys 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 13
 
19
Duplication
 2
 

No Animal Model Data Available

No PIN Data Available
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