Figure 4

Loss of CHD8 leads to prominent gene downregulation in human excitatory neurons. (a) Single-cell RNA sequencing data showing expression of CHD8 and cell-type-specific marker genes (CPM + 1) in human cortical neurons (image credit: Allen Institute)37. (b) Volcano plot for RNA-seq fold change in heterozygous CHD8 KO versus control neurons. (c) Volcano plot for RNA-seq fold change in homozygous CHD8 KO versus control neurons. (d) Analysis for overlapping DEGs between the heterozygous and homozygous knockout RNA-seq experiment shows that the odds ratio of downregulated genes is significantly higher compared to overlapping upregulated genes. (e) Results of gene ontology (GO) and KEGG pathway analysis for up and downregulated genes in heterozygous CHD8 KO to WT and homozygous CHD8 KO to control conditions.