TCEAL9

Chr X

transcription elongation factor A like 9

Also known as: WBP5, WEX6

The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.82
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.82LOEUF
pLI 0.122
Z-score 0.43
OE 0.63 (0.201.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.89 (0.671.19)
32 obs / 36.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.201.82)
00.351.4
Missense OE?0.89 (0.671.19)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 1 / 1.6Missense obs/exp: 32 / 36.1Syn Z: 0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TCEAL9 · 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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