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. 2022 Aug 26;13:5026. doi: 10.1038/s41467-022-32763-6

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 6 — a RNA-seq coverage plots for genes coding U1, U4, U5, or U6 snRNA in unaffected parents (Mother and Father) and BRAT1 patient-derived (Patient 1 and Patient 2) lymphoblastoid cell lines (LCLs) are shown, as indicated. b Metaplot analysis of mean reads coverage of individual U1, U4, U5, or U6 snRNA transcripts from unaffected parents (Mother and Father) and BRAT1 patient-derived (Patient 1 and Patient 2) LCLs. Data are presented as the smoothed mean coverage of the selected genes (n = 4) averaged across samples (n = 2) in the respective group with 95% confidence interval of the mean shown (ribbon). TSS transcription start site. c RT-qPCR analysis of total and unprocessed RNU1-1 transcripts in control, parent and BRAT1 patient-derived fibroblasts (top) and LCLs (bottom). Data are represented as the mean ± SD (n = 3). Statistical significance was determined by a one-sided paired Student’s t-test (*p < 0.05, ***p < 0.001).