RNU5B-1

Chr 15

RNA, U5B small nuclear 1

Also known as: NEDSJL, RNU5B, RNU5B-1P, U5B1

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]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
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P/LP submissions
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P/LP missense
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LOEUF
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Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

ReNU syndrome & the snRNA disorders — features, recurrent variants, where they sit, testing and counsellingOverview →

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Trials that enrol by condition rarely name the gene: RNU5B- related neurodevelopmental disorder with seizures and joint laxity