TCEAL4

Chr X

transcription elongation factor A like 4

Also known as: NPD017, WEX7

NCBI Gene: 79921 ENSG00000133142 UniProt: Q96EI5

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.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. This family is comprised of nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternatively splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 13. [provided by RefSeq, Apr 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.66

LOEUF

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Mechanism

Some data sources returned errors (1)

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