BICRAL
protein-codingBICRA like chromatin remodeling complex associated protein, the group of GBAF complex
Gene summary
Predicted to be involved in positive regulation of DNA-templated transcription. Part of SWI/SNF complex. [provided by Alliance of Genome Resources, Jul 2025]
- KIAA0240
- GLTSCR1L
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~86.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to BICRAL variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001393499.1. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 139 | 4 | 143 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 141 | 4 | 0 | 145 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001380428.1 | 11 | MANE Select | |
| Ensembl | ENSP00000313933.4 | 11 | MANE Select | |
| RefSeq | NP_001305748.1 | 11 | Standard | |
| RefSeq | NP_056164.1 | 11 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- SWI/SNF complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000314073
- Coding exons
- 11
- Length
- 86534
- Individuals with no LoFs
- 0
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 0
- Defined
- 0
- p
- 0.00
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.97 | 446 | 580 | 0.769 | 0.0000302 | 7106 |
| Missense (PolyPhen) | 133 | 197.09 | 0.67481 | 2543 | ||
| Synonymous | 0.288 | 222 | 228 | 0.976 | 0.0000135 | 2180 |
| Loss of Function | 5.99 | 0 | 41.7 | 0.00 | 0.00000215 | 468 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- 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. {ECO:0000269|PubMed:29374058}.;
Recessive Scores
- pRec
- 0.0868
Intolerance Scores
- RVIS EVS
- -0.57
- RVIS percentile EVS
- 18.96
Essentials
- Essential (gene trap)
- N