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GeneBe

BIK

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

Basic information

Region (hg38): 22:43110749-43129712

Links

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

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (12 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.

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
9
clinvar
3
clinvar
12
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 9 3 0

Variants in BIK

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

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

Position Type Phenotype Significance ClinVar
22-43124058-G-C Inborn genetic diseases Likely benign (Sep 06, 2022)2381867
22-43124096-C-T Inborn genetic diseases Likely benign (Jun 29, 2022)2291970
22-43124107-G-T Inborn genetic diseases Uncertain significance (Dec 03, 2021)2263723
22-43124146-A-C Inborn genetic diseases Uncertain significance (Mar 06, 2023)2494642
22-43127701-G-A Inborn genetic diseases Uncertain significance (Sep 27, 2022)2357363
22-43127759-C-A Inborn genetic diseases Uncertain significance (Dec 19, 2022)2358898
22-43128525-C-G Inborn genetic diseases Uncertain significance (Sep 16, 2021)2213082
22-43128530-G-A Inborn genetic diseases Uncertain significance (Nov 15, 2021)2261383
22-43128531-A-G Inborn genetic diseases Likely benign (May 27, 2022)2292045
22-43128576-T-C Inborn genetic diseases Uncertain significance (Mar 31, 2023)2545669
22-43128615-C-T Inborn genetic diseases Uncertain significance (Oct 12, 2021)2206520
22-43129222-G-A Inborn genetic diseases Uncertain significance (May 03, 2023)2511868

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