BLCAP

BLCAP apoptosis inducing factor

Basic information

Region (hg38): 20:37492472-37527931

Links

ENSG00000166619 ∙ NCBI:10904 ∙ OMIM:613110 ∙ HGNC:1055 ∙ Uniprot:P62952 ∙ 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 BLCAP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BLCAP 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	6	0	0

Variants in BLCAP

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

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

Position	Type	Phenotype	Significance	ClinVar
20-37518928-C-T		not specified	Uncertain significance (Feb 28, 2024)
20-37518954-G-A		not specified	Uncertain significance (Jan 30, 2024)
20-37518955-G-A		not specified	Uncertain significance (Jun 06, 2023)
20-37518999-T-C		not specified	Uncertain significance (Oct 06, 2023)
20-37519060-C-G		not specified	Uncertain significance (Aug 02, 2021)
20-37521348-C-T		not specified	Uncertain significance (May 28, 2024)
20-37521385-C-G		not specified	Uncertain significance (Dec 28, 2022)
20-37521386-T-G		not specified	Uncertain significance (Apr 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BLCAP	protein_coding	protein_coding	ENST00000414542	1	35460

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.510	0.427	108371	0	1	108372	0.00000461

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	31	51.9	0.597	0.00000305	557
Missense in Polyphen		10	21.144	0.47295		252
Synonymous	0.542	23	26.6	0.866	0.00000183	181
Loss of Function	1.32	0	2.02	0.00	8.58e-8	23

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000625	0.0000625
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000625	0.0000625
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B. {ECO:0000269|PubMed:17031575}.

Recessive Scores

• pRec: 0.156

Intolerance Scores

• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

• pHI: 0.738
• hipred: Y
• hipred_score: 0.501
• ghis: 0.606

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.351

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Blcap

Gene ontology

• Biological process: cell cycle;apoptotic nuclear changes
• Cellular component: integral component of membrane
• Molecular function: protein binding