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. 2021 Aug 23;13:135. doi: 10.1186/s13073-021-00949-0

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© The Author(s) 2021

Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 3 — Orthogonal analysis of voltage-gated sodium channel gene splicing in the developing human brain. A Sashimi plot of splicing in prenatal (top, N = 112 samples) and postnatal (bottom, N = 60 samples) DLPFC for SCN2A. Linewidth reflects the proportion of split reads observed for each intron compared to all split reads between CDS 4 and CDS 6, this value is also shown as a percentage. Introns related to 5A inclusion are shown in red, those related to 5N inclusion are shown in blue, and others are in grey. B, C Equivalent plots for SCN3A (a negative-strand gene with the orientation reversed to facilitate comparison to the other two genes) and SCN8A. D The ratio of 5A and 5N expression is shown across development for SCN1A in six human brain regions. For each region, the colored line shows the Loess smoothed average and 95% confidence interval (shaded region). Equivalent data across 11 cortical regions are shown in Additional file 1: Fig. S6. E–G This analysis is repeated for SCN2A, SCN3A, and SCN8A. Statistical tests: A–C P values compare the prenatal and postnatal cluster using a Dirichlet-multinomial generalized linear model, as implemented in Leafcutter [41]