Extended Data Fig. 1: Characterization of base pairs selected for mutagenesis.
From: Ultraconserved enhancer function does not require perfect sequence conservation
a, Detailed breakdown of conservation (phylop100way score) and position of base pair mutations for selected examples of ultraconserved enhancers mutated in this study. Base pairs selected to achieve various levels of mutagenesis: 2%, 5%, 20%, or all base pairs conserved among ~100 vertebrates are marked according to the legend. All coordinates are in hg19. Locations of conserved transcription factor motifs26 and human SNVs (TOPMed, https://bravo.sph.umich.edu/freeze5/hg38/) are also included (see legend). See Supplementary Information for similar plots of all 23 ultraconserved enhancers selected for mutagenesis. b, Percentage of mutations introduced into ultraconserved sequences that also overlapped human SNVs (all overlap rare human variants, that is found in <1% of human population. No introduced mutations overlap a SNV common in the human population).
