DEPDC7
Chr 11DEP domain containing 7
Also known as: TR2, dJ85M6.4
DEPDC7 encodes a protein predicted to be involved in intracellular signal transduction. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy or early childhood. The gene shows extreme constraint against loss-of-function variants (pLI ~1.0), indicating that biallelic mutations likely result in severe neurodevelopmental impairment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 21 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 57 | 13 | 0 | 70 |
Likely Benign | 0 | 4 | 0 | 0 | 4 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 62 | 34 | 0 | 96 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DEPDC7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools