DEPTOR
Chr 8ARADDEP domain containing MTOR interacting protein
Also known as: DEP.6, DEPDC6, hDEPTOR
DEPTOR encodes a negative regulator of mTORC1 and mTORC2 complexes that inhibits MTOR kinase activity and induces autophagy. Mutations cause spondyloepimetaphyseal dysplasia (Krakow type) and metaphyseal chondrodysplasia (Murk Jansen type), skeletal dysplasias affecting bone and cartilage development. The gene shows both autosomal recessive and autosomal dominant inheritance patterns and is not highly constrained against loss-of-function variants.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
142 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 | 53 | 0 | 53 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 60 | 5 | 0 | 65 |
Likely Benign | 0 | 1 | 0 | 3 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 0 | 61 | 58 | 3 | 123 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in 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.
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