BEX5

Chr X

brain expressed X-linked 5

Also known as: NGFRAP1L1

NCBI Gene: 340542ENSG00000184515UniProt: Q5H9J7OMIM: 300693

Predicted to enable signaling receptor binding activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.94
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.003
Z-score -1.01
OE 1.86 (0.63–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.31Z-score
OE missense 0.87 (0.67–1.13)
39 obs / 44.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.86 (0.63–1.94)
0≤0.351.4
Missense OE?0.87 (0.67–1.13)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 3 / 1.6Missense obs/exp: 39 / 44.9Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BEX5 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients