Fig. 2

Differential expression of genes between carriers and noncarriers of the 16p12.1 deletion. A Volcano plot showing downstream (non-16p12.1 deletion) genes differentially expressed (FDR < 0.05) between carriers (n = 19) and noncarriers (n = 13) of the deletion. Red circles indicate genes preferentially expressed in GTEx cerebral cortex tissues. B Scatter plot showing all genes differentially expressed between carriers and noncarriers of the deletion by chromosome, excluding genes on sex chromosomes. Genes are colored by FDR of differential expression. Labeled genes indicate candidate autism genes with differential expression. C Expression changes and chromatin connectivity of genes within the 16p12.1 region. The top plot shows pairwise chromatin interactions within the 3.5 Mbp 16p12.1 region, with red lines representing stronger Hi-C intensity, while the bottom plot shows log₂-fold change of expression in deletion carriers of genes within and adjacent to the 16p12.1 deletion. The Hi-C data is from previously reported Hi-C experiments of LCL samples [81], and the heatmap was generated using the 3D Genome Browser [82]. D Line plot shows enrichment (log₁₀ FDR) of differentially expressed genes in deletion carriers for genes preferentially expressed in six select BrainSpan tissues across 11 developmental timepoints