RNU5F-1

Chr 1

RNA, U5F small nuclear 1

Also known as: RNU5F, U5F

NCBI Gene: 26828ENSG00000199377

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Jul 2025]

6
ClinVar variants
1
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RNU5F-1
📋
ClinVar Variants
1 Pathogenic / Likely Pathogenic· 5 VUS of 6 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

6 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1
VUS5
1
Likely Pathogenic
5
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
1
0
1
VUS
0
0
5
0
5
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total00606

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RNU5F-1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for RNU5F-1

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