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. 2020 Apr 24;11:2022. doi: 10.1038/s41467-020-15962-x

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© The Author(s) 2020

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. 5 — a RT-PCR analysis of CNBP-IR in DM2 (n = 6), DM1 (n = 19), ALS = (n = 13) and unaffected control (n = 11) whole blood samples. Bar graph shows mean CNBP intron 1 retention ratio ± SD. Significant difference was determined by Dunnett’s multiple comparisons test: **** P_adj < 0.0001. b Pie chart represents all detected AS events in whole blood RNA-seq. Orange triangle represents significantly changed AS events in DM2 (n = 6) compared to DM1 (n = 6) and unaffected (n = 6) controls. c Number of significantly changed AS events assigned to different categories. d Box plot of AS event | ΔPSI | values. Center line represents the median, and the box extends from the 25th to 75th percentiles. Whiskers show 1-99 percentile. e Heat map shows selected 37 AS events changed in DM2 compared to both DM1 and unaffected controls. Note that TCF7 E9 is the mouse Tcf7 E10 ortholog. * FDR < 0.05, ** FDR < 0.01, *** FDR < 0.001, **** FDR < 0.0001. f Sashimi plot with mean PSI values for LEF1 E6 in DM2 (n = 6), DM1 (n = 6) and unaffected control (n = 6) RNA-seq samples. g Representative RT-PCR assay gel of LEF1 E6 from DM2, DM1 and unaffected control (Ctrl.) whole blood samples. h Aberrant LEF1 E6 exclusion in a large cohort of DM2 (n = 6), DM1 (n = 19), ALS (n = 13) and unaffected (n = 11) control whole blood samples. Significant difference was determined by Dunnett’s multiple comparisons test: **** P_adj < 0.0001 i Reduction of TCR repertoire detected in DM2 whole blood RNA-seq. Bar graph shows the total number of TRB and TRA clones normalized to uniquely mapped reads ± SD. Significant difference was determined by Dunnett’s multiple comparison test: * P_adj = 0.042. Source data are provided as the Supplementary Data 1 and Source Data files.