PPDPF

Chr 20

pancreatic progenitor cell differentiation and proliferation factor

Also known as: C20orf149, dJ697K14.9, exdpf

NCBI Gene: 79144ENSG00000125534UniProt: Q9H3Y8

Predicted to be involved in cell differentiation. Predicted to act upstream of or within TORC1 signaling and liver development. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.94
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.000
Z-score -0.94
OE 1.57 (0.72–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.37Z-score
OE missense 1.12 (0.94–1.35)
82 obs / 73.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.57 (0.72–1.94)
0≤0.351.4
Missense OE?1.12 (0.94–1.35)
0≤0.61.4
Synonymous OE?1.42
0≤1.21.6
LoF obs/exp: 5 / 3.2Missense obs/exp: 82 / 73.1Syn Z: -1.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPDPF · 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