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. 2021 May 7;12:2558. doi: 10.1038/s41467-021-22627-w

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© The Author(s) 2021

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, b Volcano plot showing up and down-regulated genes in SMN^Exon7del vs. control (a) and, GEMIN5^H913R vs. control (b) selected by p-value < 0.01 & log2(fold change) ≥ 1.5. The x-axes show log2 values of the fold changes in gene expression between the samples and y-axis shows −log10-transformed p-values. Significant genes were selected after Benjamini–Hochberg (BH) correction. c Venn diagram showing the number of genes that are shared between SMA and GEMIN5 and the genes which are exclusively to both. Only the DEGs with ≥1.5 log-fold DEGs were used for the comparison. d Heat map depicting the expression pattern of top 20 up and downregulated DEGs common to both SMN^Exon7del and GEMIN5^H913R. Significant genes were selected by Wald test in DESeq2 and multiple test correction by BH. e–g Functional characterization of the genes with the MSigDB ‘c5 Gene Ontology (GO), biological process ontology (BP) v6.0’ gene sets in SMN^Exon7del and GEMIN5^H913R (e), unique to GEMIN5^H913R (f) and SMN^Exon7del (g). The size of the dot corresponds to the number of genes per term, and the color of the dot indicates the enrichment significance. Source data are provided as a Source Data file.