BIRC8

pseudo

baculoviral IAP repeat containing 8, the group of Baculoviral IAP repeat containing|Ring finger proteins

Gene summary

Predicted to enable cysteine-type endopeptidase inhibitor activity involved in apoptotic process and ubiquitin protein ligase activity. Predicted to be involved in several processes, including negative regulation of apoptotic process; positive regulation of canonical Wnt signaling pathway; and positive regulation of protein ubiquitination. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr19:53,289,664-53,291,131

External References & Databases

Ensembl (ENSG00000163098)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BIRC8 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Small cell lung cancer - Homo sapiens (human)
Apoptosis - multiple species - Homo sapiens (human)
Ubiquitin mediated proteolysis - Homo sapiens (human)
Toxoplasmosis - Homo sapiens (human)
Pathways in cancer - Homo sapiens (human)

Biological Process

apoptotic process
protein ubiquitination
positive regulation of canonical Wnt signaling pathway
inhibition of cysteine-type endopeptidase activity involved in apoptotic process

Molecular Function

cysteine-type endopeptidase inhibitor activity involved in apoptotic process
metal ion binding
ubiquitin protein ligase activity

Cellular Component

nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000426466
Coding exons: 1
Length: 2020

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0101	129	129	0.998	0.00000662	1553
Missense (PolyPhen)		31	38.237	0.81073		468
Synonymous	-0.0368	47	46.7	1.01	0.00000279	439
Loss of Function

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Protects against apoptosis mediated by BAX.;

Intolerance Scores

LoFtool: 0.696
RVIS EVS: 1.86
RVIS percentile EVS: 97.17

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.539

Gene Damage Prediction

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