BCL2L2-PABPN1

Chr 14

BCL2L2-PABPN1 readthrough

NCBI Gene: 100529063ENSG00000258643

This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.55
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.55LOEUF
pLI 0.279
Z-score 2.87
OE 0.24 (0.12–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.23Z-score
OE missense 0.56 (0.48–0.66)
116 obs / 206.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.24 (0.12–0.55)
0≤0.351.4
Missense OE?0.56 (0.48–0.66)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 4 / 16.7Missense obs/exp: 116 / 206.1Syn Z: -1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BCL2L2-PABPN1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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