RPF1
Chr 1ribosome production factor 1 homolog
Also known as: BXDC5
Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA and maturation of LSU-rRNA. Located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.19LOEUF
pLI 0.000
Z-score 0.94
OE 0.76 (0.50–1.19)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.20Z-score
OE missense 0.96 (0.85–1.08)
187 obs / 194.7 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.76 (0.50–1.19)
0≤0.351.4
Missense OE?0.96 (0.85–1.08)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 14 / 18.4Missense obs/exp: 187 / 194.7Syn Z: -0.14
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RPF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools