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GeneBe

BLCAP

BLCAP apoptosis inducing factor

Basic information

Region (hg38): 20:37492471-37527931

Links

ENSG00000166619NCBI:10904OMIM:613110HGNC:1055Uniprot:P62952AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (3 variants)

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
2
clinvar
2
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 3 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)3134119
20-37518954-G-A not specified Uncertain significance (Jan 30, 2024)3134118
20-37518955-G-A not specified Uncertain significance (Jun 06, 2023)2557669
20-37518999-T-C not specified Uncertain significance (Oct 06, 2023)3134117
20-37519060-C-G not specified Uncertain significance (Aug 02, 2021)2240561
20-37521385-C-G not specified Uncertain significance (Dec 28, 2022)2340777

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BLCAPprotein_codingprotein_codingENST00000414542 135460
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5100.427108371011083720.00000461
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.033151.90.5970.00000305557
Missense in Polyphen1021.1440.47295252
Synonymous0.5422326.60.8660.00000183181
Loss of Function1.3202.020.008.58e-823

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.00006250.0000625
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.00006250.0000625
South Asian0.000.00
Other0.000.00

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

loftool
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

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerLowLowLow

Mouse Genome Informatics

Gene name
Blcap
Phenotype

Gene ontology

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