TCEAL6

Chr X

transcription elongation factor A like 6

Also known as: Tceal3, WEX2

The TCEAL6 protein is predicted to localize to the nucleus and may be involved in transcriptional regulation. Mutations in this gene have been associated with neurodevelopmental disorders, though the specific clinical phenotypes and inheritance patterns are not well-established in the provided data. This gene appears to tolerate loss-of-function variants well based on constraint metrics.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.93
LOEUF
Mechanism
Clinical SummaryTCEAL6
Population Constraint (gnomAD)
Low constraint (pLI 0.02) — 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
1.93LOEUF
pLI 0.017
Z-score -0.54
OE 1.51 (0.461.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.62Z-score
OE missense 1.20 (1.011.44)
89 obs / 74.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.51 (0.461.93)
00.351.4
Missense OE1.20 (1.011.44)
00.61.4
Synonymous OE1.03
01.21.6
LoF obs/exp: 2 / 1.3Missense obs/exp: 89 / 74.0Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TCEAL6 · 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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