Fig. 3

Genes with DMPs in promoters are enriched for biological processes and transcription factor binding motifs. A Top five most significantly enriched biological processes (BP) terms of genes with a DMP (transgender women 12 months vs baseline) within 5 kilobases (Kb) (in orange) or within 1 megabase (Mb) (in green) of a transcription start site (TSS). B Top five most significantly enriched BP terms of genes with a DMP (transgender men 12 months vs baseline) within 5 Kb or 1 Mb of a TSS. In A and B, BP terms are followed by (unadjusted p value) and [number of target genes in term]. Adjusted p values can be found in supplementary tables. C Outline of the number of 12-month GAHT-associated DMPs for feminizing (pink) or masculinizing (blue) GAHT, and whether DMP is promoter proximal (< 5 Kb of TSS) or distal (> 5 Kb of TSS). D Enriched transcription factor binding motifs (TFBMs) in genomic sequences spanning 50 bp upstream and downstream of promoter DMPs and distal DMPs. Heatmaps show the fold change (FC) in TFBM abundance relative to average background abundance (row-scaled), with white squares indicating TFBMs with unadjusted p value < 0.05, FC > 1.5, and change in abundance of > 5%