RBM47

Chr 4

RNA binding motif protein 47

Also known as: NET18

NCBI Gene: 54502ENSG00000163694UniProt: A0AV96OMIM: 619104

Enables enzyme binding activity; enzyme-substrate adaptor activity; and mRNA 3'-UTR binding activity. Involved in cytidine to uridine editing; positive regulation of type I interferon-mediated signaling pathway; and regulation of mRNA metabolic process. Located in cytoplasm and nucleus. Part of apolipoprotein B mRNA editing enzyme complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating 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
33
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.29
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.985
Z-score 3.90
OE 0.09 (0.04–0.29)
Highly constrained

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

Missense Constraint?
2.59Z-score
OE missense 0.65 (0.59–0.72)
286 obs / 438.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.09 (0.04–0.29)
0≤0.351.4
Missense OE?0.65 (0.59–0.72)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 2 / 21.5Missense obs/exp: 286 / 438.8Syn Z: 0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RBM47 · 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