Fig. 3: Characterization of RNU2-2 and RNU5B-1 variants. | Nature Genetics

Fig. 3: Characterization of RNU2-2 and RNU5B-1 variants.

From: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

Fig. 3: Characterization of RNU2-2 and RNU5B-1 variants.The alternative text for this image may have been generated using AI.

a, Balloon plot of small RNA-seq expression data with stringent multimapping protocol for RNU2, RNU4 and RNU5 paralogs in human developing brain derived from ENCODE. Normalized expression is in primary alignments per million. b, Box plots of small RNA-seq expression data with stringent multimapping protocol for RNU2, RNU4 and RNU6 paralogs in the human choroid (n = 13), neurosensory retina (NSR, n = 4) and retinal pigment epithelium (RPE, n = 16). Data are represented in box plots and the median value is central. c, Schematic representation of RNU2-2 variants mapped to the U2–U6 structure in complex with the pre-mRNA branch point. d, Schematic representation of RNU5B-1 variants mapped to the U5 structure in complex with the acceptor and donor sites of adjacent exons, amended from ref. 20.

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