BICRAL

BICRA like chromatin remodeling complex associated protein, the group of GBAF complex

Basic information

Region (hg38): 6:42782052-42868558

Previous symbols: [ "KIAA0240", "GLTSCR1L" ]

Links

ENSG00000112624 ∙ NCBI:23506 ∙ OMIM:618502 ∙ HGNC:21111 ∙ Uniprot:Q6AI39 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BICRAL gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			56	3		59
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	57	3	0

Variants in BICRAL

This is a list of pathogenic ClinVar variants found in the BICRAL region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-42822975-A-G		not specified	Uncertain significance (Apr 07, 2022)
6-42822986-A-G		not specified	Uncertain significance (May 26, 2024)
6-42828494-A-G		not specified	Uncertain significance (Oct 12, 2021)
6-42828530-A-G		not specified	Likely benign (May 24, 2024)
6-42828613-C-A		not specified	Uncertain significance (Oct 03, 2022)
6-42828721-A-G		not specified	Uncertain significance (Mar 30, 2024)
6-42828723-A-G		not specified	Uncertain significance (Aug 20, 2023)
6-42828818-C-T		not specified	Uncertain significance (Apr 23, 2024)
6-42828890-A-T		not specified	Uncertain significance (Apr 12, 2022)
6-42828908-T-TG		Autism spectrum disorder	Uncertain significance (Aug 13, 2021)
6-42828964-G-C		not specified	Uncertain significance (Feb 21, 2024)
6-42829015-A-G		not specified	Uncertain significance (Dec 15, 2022)
6-42829042-A-G		not specified	Uncertain significance (Aug 13, 2021)
6-42829054-A-G		not specified	Uncertain significance (May 11, 2022)
6-42829078-G-A		not specified	Uncertain significance (Aug 02, 2021)
6-42829121-A-G		not specified	Uncertain significance (Aug 20, 2023)
6-42829204-T-G		not specified	Uncertain significance (Jan 19, 2024)
6-42829301-A-G		not specified	Uncertain significance (Jun 29, 2023)
6-42829355-G-C		not specified	Uncertain significance (Dec 23, 2022)
6-42829357-A-T		not specified	Uncertain significance (Nov 10, 2022)
6-42829414-G-A		not specified	Uncertain significance (Oct 06, 2021)
6-42829420-A-G		not specified	Uncertain significance (May 27, 2022)
6-42829507-G-A		not specified	Uncertain significance (Dec 14, 2023)
6-42829519-G-A		not specified	Likely benign (Nov 27, 2023)
6-42829582-G-A		not specified	Uncertain significance (Jan 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BICRAL	protein_coding	protein_coding	ENST00000314073	11	86534

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	2.96e-7	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.97	446	580	0.769	0.0000302	7106
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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. {ECO:0000269|PubMed:29374058}.

Recessive Scores

• pRec: 0.0868

Intolerance Scores

• rvis_EVS: -0.57
• rvis_percentile_EVS: 18.96

Haploinsufficiency Scores

• pHI: 0.407
• hipred: Y
• hipred_score: 0.553
• ghis: 0.576

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Bicral
• Phenotype: embryo phenotype; growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Cellular component: SWI/SNF complex