BICRABRD4 interacting chromatin remodeling complex associated protein

SFARI Gene Score

Strong Candidate, Syndromic Criteria 2.1, Syndromic

Autism Reports / Total Reports

1 / 2

Rare Variants / Common Variants

14 / 0

Aliases

BICRA, GLTSCR1

Associated Syndromes

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.

External Links

Gene Card Open Targets Platform gnomAD browser PubMed

Human

Entrez Gene OMIM UniProt HumanBase VariCarta

SFARI Genomic Platforms

GPF browser SFARI genome browser

Reports (2)
Variants (14)
Gene Score

Reports related to BICRA (2 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
2	Support	-	Zhou X et al. (2022)	Yes	-

Rare Variants (14)

Allele Change	Residue Change	Variant Type	Inheritance Pattern	Parental Transmission	Family Type	PubMed ID	Author, Year
-	-	copy_number_loss	De novo	-	-	33232675	Barish S et al. (2020)
-	-	copy_number_loss	De novo	-	Simplex	33232675	Barish S et al. (2020)
c.3397+1G>A	-	splice_site_variant	De novo	-	-	35982159	Zhou X et al. (2022)
c.1993C>T	p.Gln665Ter	stop_gained	De novo	-	-	33232675	Barish S et al. (2020)
c.4369C>T	p.Gln1457Ter	stop_gained	De novo	-	-	33232675	Barish S et al. (2020)
c.2152G>A	p.Val718Met	missense_variant	De novo	-	-	35982159	Zhou X et al. (2022)
c.192G>C	p.Glu64Asp	missense_variant	De novo	-	Simplex	33232675	Barish S et al. (2020)
c.4267G>A	p.Glu1423Lys	missense_variant	De novo	-	Simplex	33232675	Barish S et al. (2020)
c.936del	p.Ala313ProfsTer30	frameshift_variant	De novo	-	Simplex	33232675	Barish S et al. (2020)
c.3247dup	p.Cys1083LeufsTer26	frameshift_variant	De novo	-	Multiplex	33232675	Barish S et al. (2020)
c.2075_2078del	p.Thr692ArgfsTer31	frameshift_variant	De novo	-	Simplex	33232675	Barish S et al. (2020)
c.2471_2472insCCCCCCCCCCC	p.Gln826ProfsTer20	frameshift_variant	De novo	-	-	35982159	Zhou X et al. (2022)
c.2479_2480delinsA	p.Ala827ThrfsTer15	frameshift_variant	De novo	-	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.

Current Score
Scoring History
3rd Party Scoring

SFARI Gene score

Strong Candidate, Syndromic

Score Delta: Score remained at 2S

criteria met

See SFARI Gene'scoring criteria

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

Syndromic

See all Category S Genes

The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."