BICRA
Homo sapiens
Gene Name: BRD4 interacting chromatin remodeling complex associated protein
Aliases: GLTSCR1
Chromosome No: 19
Chromosome Band: 19q13.33
Genetic Category: Syndromic-Rare single gene variant
Aliases: GLTSCR1
Chromosome No: 19
Chromosome Band: 19q13.33
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 19
Associated CNVs: 2
Evidence score: 3
ASD Reports: 5
Recent Reports: 0
Annotated variants: 19
Associated CNVs: 2
Evidence score: 3
| Associated Disorders: |
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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
Support
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China
DD, ID
Support
Neurodevelopmental Disorders and the Mystery of the Genes Involved: A Case Report of a BICRA Heterozygous Mutation Identified in Autism Spectrum Disorder
ASD, DD, epilepsy/seizures
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1224R002
frameshift_variant
c.1574del
p.Ser525ThrfsTer199
Unknown
Not maternal
Simplex
GEN1224R004
frameshift_variant
c.2075_2078del
p.Thr692ArgfsTer31
De novo
Simplex
GEN1224R005
frameshift_variant
c.2479_2480delinsA
p.Ala827ThrfsTer15
De novo
Simplex
GEN1224R015
frameshift_variant
c.2471_2472insCCCCCCCCCCC
p.Gln826ProfsTer20
De novo
Common
No Common Variants Available