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. 2022 Sep 19;297(6):1711–1740. doi: 10.1007/s00438-022-01954-7

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© The Author(s) 2022

Open AccessThis 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/.

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Fig. 11 — Potential phenotypic impacts of LTR7 and LTR5_Hs elements revealed by GSEA of 1944 high-fidelity down-steam target genes employing the Human RNA seq Automatic GEO Signatures database (A; C, right panel), the Transcription Factors (TF) perturbations followed by expression database (B; C, left panel), the DisGeNET database of human diseases (D–H, left panels), the ARCHS4 Human Tissues database (F; G, right panels), and the GWAS Catalog 2019 database (H right panel). In D, top 10 significantly enriched records of gene sets were sorted by genes comprising the expression signature of the Intellectual Disability trait (right panel) and genes comprising the expression signature of the Neoplasm Metastasis trait (left panel). In E, top 30 significantly enriched records of gene sets were sorted by genes comprising the expression signature of the Intellectual Disability trait (right panel) and genes comprising the expression signature of the Neoplasm Metastasis trait (left panel). Middle panel in E shows scatterplot visualization of GSEA results of the DusGeNET database of human diseases. In panels A, B, D, F, results illustrating the top 10 significantly enriched records are reported. In panels C, E, G, H, results illustrating the top 30 significantly enriched records are reported. All reported significantly enriched records were identified at the significance threshold of adjusted p value < 0.05 by the GSEA of 1944 genes regulated by LTR7- and/or LTR5_Hs loci employing the corresponding genomic databases (Methods)