GeneBe

BICRA

BRD4 interacting chromatin remodeling complex associated protein, the group of GBAF complex

Basic information

Region (hg38): 19:47608196-47703277

Previous symbols: [ "GLTSCR1" ]

Links

ENSG00000063169 ∙ NCBI:29998 ∙ OMIM:605690 ∙ HGNC:4332 ∙ Uniprot:Q9NZM4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • Coffin-Siris syndrome 12 (Moderate), mode of inheritance: AD
  • Coffin-Siris syndrome 12 (Strong), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BICRA gene.

  • not_specified (291 variants)
  • not_provided (186 variants)
  • Coffin-Siris_syndrome_12 (60 variants)
  • BICRA-related_disorder (21 variants)
  • Neurodevelopmental_disorder (1 variants)
  • CSS12_+_schizoaffective_disorder,_bipolar_type/adult-onset_psychiatric_condition (1 variants)
  • Intellectual_disability (1 variants)
  • Developmental_disorder (1 variants)
  • Coffin-Siris_syndrome_1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BICRA gene is commonly pathogenic or not. These statistics are base on transcript: NM_001394372.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
48
clinvar
5
clinvar
 55
missense
2
clinvar
2
clinvar
351
clinvar
49
clinvar
3
clinvar
 407
nonsense
5
clinvar
5
clinvar
2
clinvar
 12
start loss
0
frameshift
12
clinvar
12
clinvar
8
clinvar
1
clinvar
 33
splice donor/acceptor (+/-2bp)
1
clinvar
1
clinvar
1
clinvar
 3
Total 20 19 364 97 10

Highest pathogenic variant AF is 0.0006381764

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BICRAprotein_codingprotein_codingENST00000396720 1395081
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.9830.0165120322021203240.00000831
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.546188230.7510.00005619533
Missense in Polyphen123201.360.610842114
Synonymous-1.414604231.090.00003553509
Loss of Function4.66534.50.1450.00000149429

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.00006190.0000569
Finnish0.000.00
European (Non-Finnish)0.000009630.00000918
Middle Eastern0.00006190.0000569
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
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 (PubMed:29374058). May play a role in BRD4-mediated gene transcription (PubMed:21555454). {ECO:0000269|PubMed:21555454, ECO:0000269|PubMed:29374058}.;

Recessive Scores

pRec
0.125

Haploinsufficiency Scores

pHI
0.160
hipred
Y
hipred_score
0.523
ghis
0.446

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Bicra
Phenotype

Gene ontology

Biological process
positive regulation of transcription, DNA-templated
Cellular component
nucleus;SWI/SNF complex
Molecular function
transcription coactivator activity;protein binding