PACRGL

Chr 4

parkin coregulated like

Also known as: C4orf28

NCBI Gene: 133015ENSG00000163138UniProt: Q8N7B6

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.69
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.69LOEUF
pLI 0.000
Z-score -0.53
OE 1.15 (0.78–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.23Z-score
OE missense 0.94 (0.81–1.10)
112 obs / 119.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.15 (0.78–1.69)
0≤0.351.4
Missense OE?0.94 (0.81–1.10)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 17 / 14.8Missense obs/exp: 112 / 119.0Syn Z: -0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PACRGL · 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