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. 2022 Mar 29;13:1655. doi: 10.1038/s41467-022-29271-y

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© The Author(s) 2022

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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — a, b Distribution of cryptic-donors activated by (a) AM-variants and (b) CM-variants. Location (x-axis) denotes the distance of the cryptic-donor from the annotated-donor, with negative values upstream into the exon and positive values downstream into the intron. c (Bottom) Distribution of cryptic-donors activated by AM/CM-variants. (Top) Pictograms showing the Reference (REF) and Variant (VAR) sequences for AM/CM-variants. Activated cryptic-donors are prevalent at E^-4 (left) and D+5 (right) due to conserved GTs at D^+1/+2 and D^+5/+6 of the conserved donor splice-site sequence. d Frequency of naturally occurring decoy-donors (any GT or GC) +/− 250 nt of annotated-donors in the human genome. Dashed lines indicate the 50th and 90th percentile for exon length. The decline in exonic donors is due to relatively fewer longer exons. e Distribution of the number of decoy-donors in the +/−250 nt surrounding each annotated-donor in the human genome. Dashed line shows that there are an average of 36 decoy-donors within 250 nt of each annotated-donor.