REP15

Chr 12

RAB15 effector protein

Also known as: RAB15EP

NCBI Gene: 387849ENSG00000174236UniProt: Q6BDI9

The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.78
LOEUF
—
Mechanism
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?
1.78LOEUF
pLI 0.000
Z-score -0.09
OE 1.04 (0.58–1.78)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.44Z-score
OE missense 0.89 (0.76–1.04)
106 obs / 119.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.04 (0.58–1.78)
0≤0.351.4
Missense OE?0.89 (0.76–1.04)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 7 / 6.8Missense obs/exp: 106 / 119.5Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

REP15 · 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