PELI1

Chr 2

pellino E3 ubiquitin protein ligase 1

NCBI Gene: 57162ENSG00000197329UniProt: Q96FA3

Enables ubiquitin-ubiquitin ligase activity. Involved in several processes, including negative regulation of TORC1 signaling; negative regulation of necroptotic process; and protein polyubiquitination. Is active in site of double-strand break. Implicated in colorectal cancer. [provided by Alliance of Genome Resources, Jul 2025]

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
30
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.51
LOEUF
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.390
Z-score 3.06
OE 0.22 (0.11–0.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.12Z-score
OE missense 0.62 (0.54–0.71)
149 obs / 241.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.22 (0.11–0.51)
0≤0.351.4
Missense OE?0.62 (0.54–0.71)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 4 / 18.0Missense obs/exp: 149 / 241.7Syn Z: -1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PELI1 · 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