Fig. 4

Paralogs and constraint vs autosomal TADs. A Proportion of paralogous gene pairs in TADs, the median proportion in 100 sets of random TADs, and the median proportion in 100 sets of random genome TADs. TADs contain significantly more pairs of paralogous genes than both random TADs and random genome TADs (Fisher’s exact test, median p-value: p < 0.001 = ***, p < 0.01 = **, p < 0.05 = *). B Size of TADs containing pairs of paralogs vs TADs (with > 1 gene) containing no pairs of paralogs (plotted on a log₁₀ scale). For Arrowhead TADs, TADs which contain pairs of paralogs are larger than TADs which have no paralog pairs. (Wilcoxon test, p-value: p < 0.001 = ***, p < 0.01 = **, p < 0.05 = *, ES = effect size calculated using r for Wilcoxon). C Distribution of mean constraint scores of genes occupying the same TAD. TADs are split depending on the number of genes they contain (1, 2, 3, 4, 5, 6+). Dots indicate the mean of the distribution. D Table showing FDR corrected p-values of differences between groups in C calculated with the Wilcoxon test. Significant p-values are highlighted red. Genes singly occupying a TAD have a significantly higher constraint score than the average constraint of genes in TADs with > 1 gene. E Biological processes GO term functional enrichment of genes singly, doubly or triply occupying an Arrowhead TAD. Only the top 25 most significant GO terms passing a p-value threshold of < 0.05 (multiple testing corrected using the “gSCS” option) are shown for each gene set