Table 1.
ATR-X methylation signature: significant regions detected by methylation array in ATR-X patients (n = 17) compared with controls (n = 210)
| Chr | Region start | Region stop | # Probes | Nearest gene | Distance to gene (bp) | Within CpG island | Gene promoter/intragenic |
|---|---|---|---|---|---|---|---|
| chr1 | 228291476 | 228291715 | 5 | C1orf35 | 453 | No | – |
| chr3 | 107810351 | 107810801 | 6 | CD47 | 415 | Yes | – |
| chr3 | 109056339 | 109056907 | 4 | DPPA4 | 0 | No | Promoter |
| chr4 | 124222 | 125122 | 5 | ZNF718 | 0 | Yes | Intragenic/promoter |
| chr5 | 23506728 | 23507762 | 13 | PRDM9 | 0 | No | promoter |
| chr5 | 134073420 | 134073589 | 5 | CAMLG | 581 | No | – |
| chr5 | 150284292 | 150284806 | 9 | ZNF300 | 0 | Yes | Promoter |
| chr5 | 150325572 | 150326872 | 13 | ZNF300P1 | 0 | Yes | Promoter |
| chr6 | 168045258 | 168045898 | 5 | LOC401286 | 21624 | No | – |
| chr6 | 34498908 | 34499514 | 5 | PACSIN1 | 0 | Yes | Intragenic |
| chr8 | 43131250 | 43132517 | 9 | POTEA | 15068 | Yes | – |
| chr10 | 38069509 | 38069955 | 4 | ZNF248 | 0 | Yes | Intragenic |
| chr16 | 10479552 | 10480299 | 6 | ATF7IP2 | 0 | Yes | Promoter |
| chr19 | 12305543 | 12306507 | 7 | LOC100289333 | 0 | Yes | Promoter |
| chr20 | 623079 | 623431 | 4 | SRXN1 | 3837 | Yes | – |
| chrY | 21664286 | 21665031 | 4 | BCORP1 | 0 | Yes | Promoter |
Significant regions: Human reference genome Hg19. Probes >4, estimate (net methylation difference) > ± 20%, F value >50, p value <0.01. Gene promoters were defined as any sequence immediately surrounding the annotated 5ʹ end of the gene