DEPDC1

Chr 1

DEP domain containing 1

Also known as: DEP.8, DEPDC1-V2, DEPDC1A, SDP35

NCBI Gene: 55635ENSG00000024526UniProt: Q5TB30

Predicted to enable GTPase activator activity. Involved in negative regulation of DNA-templated transcription. Located in fibrillar center and nucleoplasm. Part of transcription repressor complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
DN
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?
0.80LOEUF
pLI 0.000
Z-score 2.56
OE 0.55 (0.39–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.44Z-score
OE missense 0.94 (0.86–1.02)
377 obs / 402.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.39–0.80)
0≤0.351.4
Missense OE?0.94 (0.86–1.02)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 21 / 38.0Missense obs/exp: 377 / 402.0Syn Z: 1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DEPDC1 · 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