Fig. 2: Allele-specific transcriptional activity enriches for AP-1/AP-2/SP/KLF motifs and putative target gene networks.
From: Disease-linked regulatory DNA variants and homeostatic transcription factors in epidermis
a 355 differentially active (risk vs protective alleles) SNVs (daSNV) across a differentiation time-course. b Outlier daSNVs show a consistency between timepoints. c Total numbers of SNVs studied in specific diseases and timepoint-disease connections. d Time-differential daSNVs (FDR < 0.1), subset here to the top 20 strongest interaction effects for SNVs with eGenes. e Enrichment of JASPAR motif clusters in daSNVs vs non-daSNVs; note that SP/KLF/AP-1 motifs are frequently broken in daSNVs across all timepoints, and AP-2 motifs are enriched in daSNVs in early differentiation. f Enrichment in daSNVs vs non-daSNVs for the motifs of known skin TFs; SP/KLF/AP-1/AP-2 motifs are the most significantly altered (two-sided Mann–Whitney, negative values represent depletion). g Protein–protein interaction network of 529 disease-linked SNV-linked eGenes, with 1252 interactions. Highlight: modules identified by Markov clustering and enriched in a GO term (FDR < 0.05), except keratinization (teal) and immune system (light blue) were annotated manually or by GO term, respectively. Monogenic skin disorder genes are depicted with diamonds, daSNV-linked genes with darker borders.
