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. 2024 Apr 29;25:111. doi: 10.1186/s13059-024-03248-0

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 3 — Comparison of 5’UTRs across disease genes sets. A The 5’UTRs of disease genes are significantly longer (Wilcoxon: DD dominant: P<1x10^-15; Onc: P=1.5x10^-05; TSG:P=2.9x10^-04; HS: P<1x10^-15; TS: P<1x10^-15) with the exception of DD recessive genes which are significantly shorter (Wilcoxon P=2.7x10^-08), when compared to the average across all genes. The median 5’UTR length for all genes (136 bp) is shown by the dotted black line. The x-axis was truncated at 2,000 bp (22 genes had 5’UTRs >2,000 bp). B Disease gene 5’UTRs are significantly more conserved (T-test: DD dominant: P<1x10^-15; Onc: P=9x10^-06; TSG: P=4.3x10^-08; HS: P<1x10^-15; TS: P<1x10^-15) except DD recessive genes which are significantly less conserved (T-test: P=4.9x10^-08), compared to all genes. The dotted black line is the median PhyloP score for all genes (0.28). C Disease genes significantly more often contain uORFs (Chi-square: DD dominant: 57.9%, P<1x10^-15; TSG=49.4%, P=6.5x10^-05; HS=45.7%, P<1x10^-15; TS=40.7%, P=1.4x10^-07), when compared to all 5’UTRs. Start-stops are only significantly enriched in HS genes (P=3.1x10^-08). The dotted lines mark the percentage of all genes with each uAUG type