TCEAL3

Chr X

transcription elongation factor A like 3

Also known as: WEX8

The protein is a nuclear phosphoprotein that modulates transcription in a promoter context-dependent manner and is part of the transcription elongation factor A-like gene family. Mutations cause X-linked intellectual disability, and the gene shows moderate constraint against loss-of-function variants. The gene follows X-linked inheritance patterns.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
2
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.67
LOEUF
Mechanism
Clinical SummaryTCEAL3
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.74) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.67LOEUF
pLI 0.740
Z-score 1.95
OE 0.00 (0.000.67)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
1.09Z-score
OE missense 0.66 (0.530.83)
54 obs / 81.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.67)
00.351.4
Missense OE0.66 (0.530.83)
00.61.4
Synonymous OE0.81
01.21.6
LoF obs/exp: 0 / 4.4Missense obs/exp: 54 / 81.8Syn Z: 0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TCEAL3 · 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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Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found