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. 2024 Jul 26;143(7):921–938. doi: 10.1007/s00439-024-02693-y

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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/.

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Fig. 2 — The lncRNA MEF2C-AS1 is disrupted in multiple individuals with neurological phenotypes, as shown here for DGAP191. (A) Chromosome diagrams depict the translocation between 5q14.3 and 7q21.3 in DGAP191. Above, TADs containing the breakpoints are shown, with the breakpoint positions indicated by vertical orange bars and the edges of the region shown in vertical pink bars. TAD borders were defined in (Dixon et al. 2012). Triangular contact maps display micro-C data indicating chromatin conformation (Krietenstein et al. 2020). H3K4Me1 and H3K27Ac tracks depict enhancer-associated chromatin modifications (ENCODE Project Consortium 2012). The VISTA track shows experimentally validated enhancer elements (Visel et al. 2007). Protein-coding genes are shown in blue and non-coding genes in green, with a single isoform depicted per gene. (B) Expanded view of the genomic region surrounding the 5q14.3 breakpoints in DGAP191. The directly disrupted lncRNA MEF2C-AS1 is highlighted in red. (C) Expanded view of the genomic region surrounding the 7q21.3 breakpoints in DGAP191. The directly disrupted lncRNA ENSG00000285090 is highlighted in red