DEPTOR

Chr 8

DEP domain containing MTOR interacting protein

Also known as: DEP.6, DEPDC6, hDEPTOR

NCBI Gene: 64798ENSG00000155792UniProt: Q8TB45

Enables phosphatidic acid binding activity and protein serine/threonine kinase inhibitor activity. Involved in several processes, including negative regulation of TOR signaling; negative regulation of cell size; and negative regulation of protein kinase activity. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
39
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
GOF
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?
1.43LOEUF
pLI 0.000
Z-score 0.15
OE 0.96 (0.66–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.09Z-score
OE missense 0.98 (0.89–1.09)
245 obs / 248.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.96 (0.66–1.43)
0≤0.351.4
Missense OE?0.98 (0.89–1.09)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 18 / 18.7Missense obs/exp: 245 / 248.9Syn Z: 0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DEPTOR · 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