DLEU7

Chr 13

deleted in lymphocytic leukemia 7

The DLEU7 protein functions as a regulatory RNA-binding protein involved in post-transcriptional gene regulation. Mutations cause autosomal recessive developmental delay with seizures and dysmorphic features, typically presenting in early childhood. The gene shows moderate tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.

LOEUF 1.60
Clinical SummaryDLEU7
Population Constraint (gnomAD)
Low constraint (pLI 0.18) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.60LOEUF
pLI 0.185
Z-score 0.90
OE 0.39 (0.141.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.73Z-score
OE missense 0.71 (0.540.94)
36 obs / 50.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.39 (0.141.60)
00.351.4
Missense OE0.71 (0.540.94)
00.61.4
Synonymous OE0.63
01.21.6
LoF obs/exp: 1 / 2.6Missense obs/exp: 36 / 50.6Syn Z: 1.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DLEU7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

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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