Fig. 3: Measures of purifying selection at annotated noncoding elements and in genomic intervals near protein-coding genes.
From: Extreme purifying selection against point mutations in the human genome
A Estimates for both ExtRaINSIGHT (λs; teal) and INSIGHT (ρ; orange) at noncoding elements (x-axis). B Estimates of λs in windows upstream of the transcription start site (TSS) and downstream of the polyadenylation site (PAS) (x-axis). The \(5^{\prime}\) and \(3^{\prime}\) UTRs are also shown, as are fourfold degenerate (4d) coding sites (CDS). C Estimates of λs for the extended promoter region (2kb upstream of the TSS) within transcription factor binding sites (TFBS) annotated in the Ensembl Regulatory Build44 and in the immediate flanking sequences (10bp on each side). The difference in (C) is highly statistically significant by a two-sided likelihood ratio test based on the ExtRaINSIGHT likelihood model (p = 2.8 × 10−13). Error bars are centered at the MLE and indicate one standard error in each direction (see “Methods”). Numbers of elements: A old miRNA: n = 7537; UCNE: n = 1,415,142; HAR: n = 674,492; young miRNA: n = 6285; other intron: n = 971,109,276; other intergenic: n = 1,255,478,347; lncRNA: n = 453,200,392; miRNA: n = 140,681; snoRNA: n = 49,837; snRNA: n = 155,304; B n = 58,496. C n = 1,120,839.
