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. 2020 Feb 14;26(5):1589–1605. doi: 10.1038/s41380-020-0669-9

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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 Genetic evidence for M_Neu1-turquoise involvement in ASD pathophysiology: the top part of the panel shows the burden of de novo potentially damaging LoF and missense variants in ASD cohort for the indicated modules, while the bottom part shows enrichment for Sfari and/or ID related genes. Heatmap colors refers to FDR values of enrichment trend. Odds-ratio values are only plotted for those modules that showed enrichment for genes in the denoted category (FDR < 0.05; OR > 1), except for the burden of ASD patients harboring LoF variants in M_Neu1-turquoise (☨) which, although not statistically significant, presented a clear trend of enrichment. FDR and OR values for the full set of modules are available in Supplementary Table S12. b Module overlap analysis comparing the three ASD-associated modules identified in this study with a series of transcriptome studies conducted either with postmortem brain samples or iPSC-derived neuronal cells (as indicated by the legend at left). All the modules that presented significant overlap with M_NPC10-blue, M_Neu1-turquoise, or M_Neu18-purple (FDR < 0.05, OR > 1) are shown and modules associated with ASD in each of the selected studies are indicated by an asterisk. Modules correspondent to M_NPC10-blue were identified in all the selected studies and, although not associated with ASD in none of the studies conducted with neuronal samples, it was detected as dysregulated in ASD patients in a metanalysis investigation of blood transcriptome. A M_Neu18-purple correspondent module was identified in fetal brain samples and such module was found as enriched for LoF damaging variants present in ASD patients. M_Neu1-turquoise correspondent modules were identified in all the studies and, in all of them, they were found as dysregulated in ASD patients. Heatmap colors refers to FDR values of enrichment trend and odds-ratio values are plotted (FDR < 0.05; OR > 1). For detailed overlap analysis, refers to Supplementary Table S13. c Venn-diagram showing the number of genes in overlap between the different M_Neu1-turquoise correspondent modules identified in studies conducted with either fetal neuronal brain or iPSC-derived neurons.