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Table 1 Chromosomal coordinates of regions of FMR1 epigenetic variability in FXS cells. The major regions or FMR1 epigenetic changes identified in FXS PBMCs and fibroblasts (Figs. 1 and 3). Each region is indicated with a unique ID. The functional location (relative to the transcriptional start site (TSS)/untranslated regions (UTR)), chromosome coordinates, and estimated size of the region of perturbation are indicated

From: Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome

Region ID Functional genomic location Chromosome coordinates Size (kb)
Region I Upstream—L29074.3 ChrX: 146981500-146986000 4.5
TSS −12 kb/−7.5 kb
Region II Promoter—intron1 ChrX: 146990000-146993800 3.8
TSS −3.5 kb/+0.3 kb
Region III Intron1 ChrX: 146993800-147004000 9.9
TSS +0.3 kb/+10.2 kb
Region IV Gene body—introns 12–16 ChrX: 147018000-147028000 10
TSS +24.5 kb/34.5 kb
Region V Downstream ChrX: 147038000-147048000 10
3′UTR +6.1 kb/+15.3 kb