L3MBTL4

Chr 18

L3MBTL histone methyl-lysine binding protein 4

Also known as: HsT1031

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.85
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.000
Z-score 2.29
OE 0.60 (0.430.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.40Z-score
OE missense 0.94 (0.861.03)
320 obs / 340.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.430.85)
00.351.4
Missense OE?0.94 (0.861.03)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 23 / 38.3Missense obs/exp: 320 / 340.6Syn Z: -0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

L3MBTL4 · 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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