PPIL6

Chr 6

peptidylprolyl isomerase like 6

Also known as: PPIase, RSPH12, bA425D10.6, dJ919F19.1

NCBI Gene: 285755ENSG00000185250UniProt: Q8IXY8

Predicted to enable RNA polymerase II CTD heptapeptide repeat P3 isomerase activity and RNA polymerase II CTD heptapeptide repeat P6 isomerase activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.30
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.60
OE 0.85 (0.56–1.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.24Z-score
OE missense 1.05 (0.93–1.19)
175 obs / 166.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.85 (0.56–1.30)
0≤0.351.4
Missense OE?1.05 (0.93–1.19)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 15 / 17.7Missense obs/exp: 175 / 166.3Syn Z: 0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPIL6 · 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