C6ORF89

Chr 6

chromosome 6 open reading frame 89

Also known as: BRAP, PS1TP5TP1

NCBI Gene: 221477ENSG00000198663UniProt: Q6UWU4

Involved in several processes, including epithelial cell proliferation; positive regulation of cell cycle; and wound healing. Located in several cellular components, including Golgi membrane; midbody; and nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.09
LOEUF
—
Mechanism
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?
1.09LOEUF
pLI 0.000
Z-score 1.29
OE 0.67 (0.43–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.50Z-score
OE missense 0.90 (0.80–1.02)
178 obs / 197.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.43–1.09)
0≤0.351.4
Missense OE?0.90 (0.80–1.02)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 12 / 17.9Missense obs/exp: 178 / 197.8Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C6ORF89 · 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