Human Gene Module / Chromosome 19 / BICRA

BICRABRD4 interacting chromatin remodeling complex associated protein

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
0 / 1
Rare Variants / Common Variants
11 / 0
Aliases
BICRA, GLTSCR1
Associated Syndromes
-
Genetic Category
Syndromic
Chromosome Band
19q13.33
Associated Disorders
ASD
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.

Reports related to BICRA (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms Barish S et al. (2020) No ASD
Rare Variants   (11)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss De novo NA - 33232675 Barish S et al. (2020)
- - copy_number_loss De novo NA Simplex 33232675 Barish S et al. (2020)
c.1993C>T p.Gln665Ter stop_gained De novo NA - 33232675 Barish S et al. (2020)
c.4369C>T p.Gln1457Ter stop_gained De novo NA - 33232675 Barish S et al. (2020)
c.192G>C p.Glu64Asp missense_variant De novo NA Simplex 33232675 Barish S et al. (2020)
c.4267G>A p.Glu1423Lys missense_variant De novo NA Simplex 33232675 Barish S et al. (2020)
c.936del p.Ala313ProfsTer30 frameshift_variant De novo NA Simplex 33232675 Barish S et al. (2020)
c.3247dup p.Cys1083LeufsTer26 frameshift_variant De novo NA Multiplex 33232675 Barish S et al. (2020)
c.2075_2078del p.Thr692ArgfsTer31 frameshift_variant De novo NA Simplex 33232675 Barish S et al. (2020)
c.2479_2480delinsA p.Ala827ThrfsTer15 frameshift_variant De novo NA Simplex 33232675 Barish S et al. (2020)
c.1574del p.Ser525ThrfsTer199 frameshift_variant Unknown Not maternal Simplex 33232675 Barish S et al. (2020)
Common Variants  

No common variants reported.

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