DEPP1

Chr 10

DEPP autophagy regulator 1

Also known as: C10orf10, DEPP, FIG, Fseg

The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]

0
Active trials
10
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.83
LOEUF
DN
Mechanism· predicted
Clinical SummaryDEPP1
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.83LOEUF
pLI 0.336
Z-score 0.66
OE 0.00 (0.001.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.17Z-score
OE missense 0.96 (0.831.11)
128 obs / 133.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.001.83)
00.351.4
Missense OE0.96 (0.831.11)
00.61.4
Synonymous OE1.07
01.21.6
LoF obs/exp: 0 / 0.5Missense obs/exp: 128 / 133.5Syn Z: -0.43
DN
0.6355th %ile
GOF
0.6248th %ile
LOF
0.4233th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DEPP1 · 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

No active trials found for this gene.

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Clinical Literature
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