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
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 |