TCEAL4

Chr X

transcription elongation factor A like 4

Also known as: NPD017, WEX7

The protein is a nuclear phosphoprotein that modulates transcription in a promoter context-dependent manner as part of the transcription elongation factor A (SII)-like gene family. Based on the provided information, there are no established disease associations or inheritance patterns documented for mutations in this gene. The moderate constraint scores suggest some intolerance to loss-of-function variants, but clinical significance remains to be determined.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.66
Clinical SummaryTCEAL4
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.75) — some intolerance to loss-of-function variants.
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ClinVar Variants
22 unique Pathogenic / Likely Pathogenic of 22 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.66LOEUF
pLI 0.748
Z-score 1.98
OE 0.00 (0.000.66)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
0.95Z-score
OE missense 0.69 (0.550.87)
52 obs / 75.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.66)
00.351.4
Missense OE0.69 (0.550.87)
00.61.4
Synonymous OE1.08
01.21.6
LoF obs/exp: 0 / 4.6Missense obs/exp: 52 / 75.3Syn Z: -0.31

ClinVar Variant Classifications

22 submitted variants in ClinVar

Classification Summary

Pathogenic22
22
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
22
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total22

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TCEAL4 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC