BAG1

Chr 9

BAG cochaperone 1

Also known as: BAG-1, HAP, RAP46

NCBI Gene: 573ENSG00000107262UniProt: Q99933OMIM: 601497

The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]

OMIMResearchGenerating clinical summary…
5
Active trials
28
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.16
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.000
Z-score 1.11
OE 0.69 (0.42–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.52Z-score
OE missense 1.11 (0.99–1.25)
198 obs / 178.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.69 (0.42–1.16)
0≤0.351.4
Missense OE?1.11 (0.99–1.25)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 10 / 14.6Missense obs/exp: 198 / 178.4Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BAG1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients