RBM27

Chr 5

RNA binding motif protein 27

Also known as: ARRS1, Psc1

NCBI Gene: 54439ENSG00000091009UniProt: Q9P2N5

Enables RNA binding activity. Predicted to be involved in RNA catabolic process. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

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.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.21
LOEUF· LoF intol.
LOF
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
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.21LOEUF
pLI 1.000
Z-score 6.59
OE 0.11 (0.06–0.21)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.48Z-score
OE missense 0.71 (0.65–0.77)
405 obs / 571.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.11 (0.06–0.21)
0≤0.351.4
Missense OE?0.71 (0.65–0.77)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 7 / 63.9Missense obs/exp: 405 / 571.8Syn Z: -0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RBM27 · 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