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. 2021 Mar 17;35(11):3232–3244. doi: 10.1038/s41375-021-01212-6

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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. 4 — A Venn diagrams comparing the overlapping of differentially expressed genes in CD34 cells expressing SAMD9, SAMD9-E1136Q, SAMD9L, or SAMD9L-H880Q. B Heatmap showing the enrichment of commonly up- and downregulated pathways after wild-type and mutant SAMD9 and SAMD9L expression. The z-scale is set to between 2 (red, upregulation) and −2 (blue, downregulation). C Rich factor plots of GSEA indicating up- and downregulated pathways in CD34+ cells expressing indicated genes. The size of each dot represents FDR significance for the indicated pathway D GSEA illustrating the enrichment of TNFα and inflammatory response target genes in cells expressing SAMD9-H880Q.