BIK

BCL2 interacting killer, the group of BCL2 homology region 3 (BH3) only

Basic information

Region (hg38): 22:43110750-43129712

Links

ENSG00000100290NCBI:638OMIM:603392HGNC:1051Uniprot:Q13323AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • prostate cancer (Limited), mode of inheritance: AD

ClinVar

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

  • not_specified (26 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BIK gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001197.5. 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
0
missense
20
clinvar
6
clinvar
26
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 20 6 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BIKprotein_codingprotein_codingENST00000216115 418965
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000005030.1381257340131257470.0000517
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1089497.00.9690.000005621028
Missense in Polyphen1823.1560.77733270
Synonymous0.3034244.60.9420.00000295326
Loss of Function-0.78375.091.372.15e-763

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001810.000181
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.00004400.0000439
Middle Eastern0.0001090.000109
South Asian0.00006640.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Accelerates programmed cell death. Association to the apoptosis repressors Bcl-X(L), BHRF1, Bcl-2 or its adenovirus homolog E1B 19k protein suppresses this death-promoting activity. Does not interact with BAX. {ECO:0000269|PubMed:8521816}.;
Pathway
Busulfan Pathway, Pharmacodynamics;Apoptosis Modulation and Signaling;DNA Damage Response (only ATM dependent);role of mitochondria in apoptotic signaling (Consensus)

Recessive Scores

pRec
0.200

Intolerance Scores

loftool
0.784
rvis_EVS
0.22
rvis_percentile_EVS
67.92

Haploinsufficiency Scores

pHI
0.0788
hipred
N
hipred_score
0.412
ghis
0.384

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.742

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Bik
Phenotype
endocrine/exocrine gland phenotype; growth/size/body region phenotype; cellular phenotype; normal phenotype; 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); reproductive system phenotype; hematopoietic system phenotype; renal/urinary system phenotype; immune system phenotype;

Gene ontology

Biological process
apoptotic process;male gonad development;apoptotic mitochondrial changes;positive regulation of protein homooligomerization;positive regulation of release of cytochrome c from mitochondria
Cellular component
endomembrane system;integral component of membrane;mitochondrial membrane
Molecular function
protein binding