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. 2021 Mar 9;12:1515. doi: 10.1038/s41467-021-21812-1

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© The Author(s) 2021

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. 5 — Dual-luciferase reporter assay quantifies relative expression for uORFs with UTC and stop-strengthening variants associated with EHR phenotypes by PheWAS. Experimental 5′UTRs for a PMVK, b VPS53, and c BCL2L13 for uORF KO, stop-strengthened, or stop-introduced variants are shown. Bars represent co-transfected Firefly to Renilla Luciferase luminescence ratios normalized to associated wild-type 5′UTRs in HEK293T cells measured 48 h post-transfection. P values from one-sample t-test for each condition are displayed above each column. Error bars represent mean + SEM of at least three independent experiments. Raw luciferase measurements are included in the Source Data file.