BIK

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

Basic information

Region (hg38): 22:43110749-43129712

Links

ENSG00000100290 ∙ NCBI:638 ∙ OMIM:603392 ∙ HGNC:1051 ∙ Uniprot:Q13323 ∙ 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 BIK gene.

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			11	4		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	4	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		not specified	Likely benign (Sep 06, 2022)
22-43124096-C-T		not specified	Likely benign (Jun 29, 2022)
22-43124107-G-T		not specified	Uncertain significance (Dec 03, 2021)
22-43124146-A-C		not specified	Uncertain significance (Mar 06, 2023)
22-43124147-T-C		not specified	Uncertain significance (Mar 14, 2024)
22-43127701-G-A		not specified	Uncertain significance (Sep 27, 2022)
22-43127759-C-A		not specified	Uncertain significance (Dec 19, 2022)
22-43128525-C-G		not specified	Uncertain significance (Sep 16, 2021)
22-43128530-G-A		not specified	Uncertain significance (Nov 15, 2021)
22-43128531-A-G		not specified	Likely benign (May 27, 2022)
22-43128576-T-C		not specified	Uncertain significance (Mar 31, 2023)
22-43128615-C-T		not specified	Uncertain significance (Oct 12, 2021)
22-43129222-G-A		not specified	Uncertain significance (May 03, 2023)
22-43129250-T-C		not specified	Uncertain significance (Nov 09, 2023)
22-43129267-C-G		not specified	Likely benign (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BIK	protein_coding	protein_coding	ENST00000216115	4	18965

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000503	0.138	125734	0	13	125747	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.108	94	97.0	0.969	0.00000562	1028
Missense in Polyphen		18	23.156	0.77733		270
Synonymous	0.303	42	44.6	0.942	0.00000295	326
Loss of Function	-0.783	7	5.09	1.37	2.15e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.000109	0.000109
South Asian	0.0000664	0.0000653
Other	0.00	0.00

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

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

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