Fig. 5

Fig. 5

Variants in DAEs and nDAEs are associated with human disease. A Bar graph showing the number of DAEs linked to their target genes in CP and GZ and their most enriched OMIM phenotypes. B Plot showing the top-25 GWAS phenotypes that are enriched in DAEs compared to nDAEs (log2 odds ratio DAE/nDAE). C Line graph showing the odds ratio, confidence interval, and p value for enrichment of CNVs from an ASD cohort at DAEs and nDAEs. CNVs data obtained from Brandler et al [44]. * p < 0.05; ** p < 0.01 (Fisher’s exact test). D Genome browser track showing the regulatory landscape of the GABRD gene. Indicated are a DAE (chr1: 1,840,449-1,840,835) that is interacting with the GABRD promoter, and a deletion (chr1: 1,840,001-1,845,000) that is found in an epilepsy patient (CNET0068) from Monlong et al. [45].* p < 0.05 (Fisher’s exact test). E Line graph showing the odds ratio, confidence interval, and p value for enrichment of SNV from an ASD cohort at DAEs and nDAEs. SNV data obtained from Zhou et al. [46]