BEX4

Chr X

brain expressed X-linked 4

Also known as: BEXL1

This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]

0
Active trials
3
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.82
LOEUF
Mechanism
Clinical SummaryBEX4
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.67) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.82LOEUF
pLI 0.672
Z-score 1.77
OE 0.00 (0.000.82)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
0.24Z-score
OE missense 0.90 (0.711.16)
44 obs / 48.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.82)
00.351.4
Missense OE0.90 (0.711.16)
00.61.4
Synonymous OE1.09
01.21.6
LoF obs/exp: 0 / 3.6Missense obs/exp: 44 / 48.7Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BEX4 · 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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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗