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. 2022 Jul 11;12:265. doi: 10.1038/s41398-022-02033-6

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© The Author(s) 2022

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. 2 — For the gene set burden tests, we used four gene sets: (1) FMRP target genes (FMRP_genes), (2) genes registered in the SynGO database (SynGO_genes), (3) genes encoding chromatin modifiers (Chromatin genes), (4) genes registered in the SFARI database (SFARI_genes). A The number of variants per sample for each gene set about LoF variants. B The number of variants per sample for each gene set about LoF + D-Mis variants. The LoF/LoF + D-Mis variants in the SynGO_genes were significantly enriched in ASD samples. The LoF variants in the FMRP_genes were significantly enriched in the ASD cases. The enrichment of the Chromatin_genes and SFARI_genes is not detected. An asterisk symbol indicates a nominal significant association (P-value < 0.05). Double asterisks indicate a nominal significant association (P-value < 0.01).