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. 2020 Jul 9;11:3501. doi: 10.1038/s41467-020-17093-9

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© The Author(s) 2020

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. 1 — 7757 unique genes containing at least one non-productive AS events, of which 1246 unique genes are disease-associated. The left panel depicts the types of AS events (cassette exons, alternative splice sites, and alternative intron/exitron) that are predicted to undergo NMD. Exons are denoted by rectangles and introns by lines. Red rectangles or red lines denote non-productive AS region. Gray rectangles denote protein-coding exons. The right panel horizontal bar graph summarizes the number of protein-coding genes containing each of the non-productive AS event type. Gray bars depict non-disease-associated genes and orange bars depict disease-associated genes (source: Orphanet disease database). Note: genes can have multiple NMD events of different types (Supplementary Data 2), therefore some genes are included in more than one type of event. To calculate the total number of unique genes (7757 and 1246 unique disease-associated genes) with non-productive events, each gene was counted only once. Source data are provided as a Source Data file.