PPIL4

Chr 6

peptidylprolyl isomerase like 4

Also known as: HDCME13P

NCBI Gene: 85313ENSG00000131013UniProt: Q8WUA2

This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
Multiple*
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 2.06
OE 0.60 (0.42–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.40Z-score
OE missense 0.75 (0.67–0.85)
195 obs / 258.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.42–0.89)
0≤0.351.4
Missense OE?0.75 (0.67–0.85)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 19 / 31.4Missense obs/exp: 195 / 258.5Syn Z: 0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPIL4 · 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