BEND6

Chr 6

BEN domain containing 6

Also known as: C6orf65

NCBI Gene: 221336ENSG00000151917UniProt: Q5SZJ8

Enables transcription corepressor activity. Predicted to be involved in negative regulation of Notch signaling pathway and positive regulation of neuron differentiation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.001
Z-score 1.63
OE 0.52 (0.29–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.71Z-score
OE missense 0.83 (0.71–0.97)
114 obs / 137.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.29–0.98)
0≤0.351.4
Missense OE?0.83 (0.71–0.97)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 7 / 13.4Missense obs/exp: 114 / 137.5Syn Z: 0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BEND6 · 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