ENA entry PRJEB87505: Saturation genome editing of RNU4-2

Abstract

Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD). RNU4-2 encodes the U4 small nuclear RNA (snRNA) component of the major spliceosome. ReNU syndrome variants disrupt spliceosome function and alter 5’ splice site selection. Here, we performed saturation genome editing (SGE) of RNU4-2 in the HAP1 cell line to map functional effects to clinical phenotypes across the gene. This submission is of sequencing data from SGE experiments performed in both haploid and diploid HAP1 cells. (updated Feb 2026)