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. 2021 Mar 9;13:51. doi: 10.1186/s13148-021-01040-6

Table 2.

HSCR-susceptibility genes that showed an aberrant methylation level in HSCR patients versus controls

Gene Seqnames Start End Width Beta Pval Annot,strand 1to5kb 5UTRs Promoters Firstexons Exons Introns 3UTRs
1 ABO chr9 133,259,941 133,260,919 979 − 0.858 0.004 X
2 ACTN4 chr19 38,647,739 38,647,796 58 0.119 0.033  +  X X X X
3 ADORA2A chr22 24,427,450 24,427,589 140 0.378 0.036  +  X X X X X X
4 AES chr19 3,057,417 3,059,794 2378 − 0.885 0.001 X X X X X X
5 AFAP1-AS1 chr4 7,768,658 7,771,115 2458 − 0.647 0.047  +  X
6 AHNAK chr11 62,538,664 62,539,087 424 − 0.987 0.042 X X
7 AP3B2 chr15 82,703,145 82,703,810 666 − 0.526 0.027 X X
8 ARNT2 chr15 80,435,195 80,437,732 2538 − 0.544 0.047  +  X X
9 ASCL1 chr12 102,958,457 102,958,690 234 0.124 0.023  +  X X
10 BCL11B chr14 99,271,192 99,272,182 991 0.123 0.031 X X X X
11 CA3 chr8 85,423,540 85,424,639 1100 − 0.669 0.040  +  X
12 CACNA1C chr12 2,230,284 2,230,376 93 − 1.031 0.003  +  X
13 CAPN10 chr2 240,589,510 240,589,844 335 0.692 0.039  +  X X X X
14 CHRNA7 chr15 32,060,846 32,060,974 129 − 0.645 0.022  +  X
15 COL6A1 chr21 45,992,053 45,994,972 2920 − 0.258 0.046  +  X X X
16 CREBBP chr16 3,773,849 3,774,877 1029 − 0.530 0.043 X X X X X
17 CTNS chr17 3,635,527 3,637,759 2233 0.345 0.014  +  X X X X X X
18 DBH chr9 133,642,000 133,642,886 887 − 0.636 0.039  +  X X
19 DHCR7 chr11 71,440,414 71,442,189 1776 0.413 0.026 X X X X X
20 DSCAM chr21 40,197,142 40,198,150 1009 − 0.805 0.001 X
21 ECE1 chr1 21,290,149 21,290,245 97 0.090 0.039 X X X X
22 FAT3 chr11 92,451,580 92,452,675 1096 − 0.605 0.008  +  X
23 FGD2 chr6 37,025,970 37,026,290 321 − 0.411 0.050  +  X
24 GDNF chr5 37,834,936 37,835,683 748 − 0.649 0.012 X X X X X
25 GFRA1 chr10 116,112,901 116,113,661 761 − 0.479 0.043 X
26 GLI2 chr2 120,987,959 120,988,503 545 0.176 0.039  +  X X X
27 IHH chr2 219,055,465 219,055,534 70 − 0.558 0.038 X
28 IRS1 chr2 226,796,575 226,797,233 659 0.983 0.019 X X X
29 ITGB2 chr21 44,886,345 44,888,733 2389 − 0.637 0.006 X X X X
30 ITIH5 chr10 7,602,000 7,602,962 963 − 0.737 0.023 X
31 KCNH2 chr7 150,958,459 150,958,537 79 − 0.615 0.019 X X X
32 KCNN3 chr1 154,790,536 154,791,444 909 − 0.735 0.025 X
33 LAMA1 chr18 7,109,731 7,109,954 224 − 0.413 0.044 X
34 MEG3 chr14 100,824,290 100,824,355 66 − 1.330 0.001  +  X X
35 MUC4 chr3 195,778,818 195,778,991 174 − 0.499 0.016 X X
36 NLRP12 chr19 53,809,751 53,810,198 448 − 0.729 0.025 X X
37 NLRP3 chr1 247,430,893 247,431,526 634 − 1.075 0.001  +  X
38 NOTCH1 chr9 136,507,039 136,507,083 45 − 0.598 0.038 X X
39 NR2F1 chr5 93,588,640 93,588,660 21 − 1.076 0.004  +  X X
40 NTF3 chr12 5,452,375 5,453,552 1178 − 0.547 0.017  +  X X
41 NTRK3 chr15 88,059,303 88,061,553 2251 − 0.788 0.031 X
42 PCDHA9 chr5 140,877,089 140,877,155 67 − 0.548 0.016  +  X
43 PTCH1 chr9 95,504,586 95,505,498 913 0.835 0.041 X X
44 RARB chr3 25,380,243 25,380,308 66 0.959 0.007  +  X
45 RBP3 chr10 47,348,275 47,349,153 879 − 0.821 0.006  +  X X X X
46 RBPMS chr8 30,441,141 30,441,979 839 − 0.696 0.039  +  X X X
47 RPS6KA3 chrX 20,265,270 20,265,640 371 − 0.488 0.007 X
48 SH2B1 chr16 28,862,077 28,862,273 197 0.647 0.046  +  X X X
49 SIX2 chr2 45,012,355 45,013,494 1140 − 0.739 0.006 X X X
50 SLC2A1 chr1 42,940,264 42,941,301 1038 0.528 0.043 X
51 SOX8 chr16 978,998 980,273 1276 − 0.789 0.008  +  X
52 TERT chr5 1,292,813 1,293,293 481 − 0.639 0.032 X
53 TNC chr9 115,085,688 115,086,564 877 − 0.600 0.014 X X
54 TST chr22 37,024,548 37,024,766 219 − 0.305 0.038 X
55 ZFHX3 chr16 72,947,027 72,948,255 1229 0.937 0.041 X

Genes in bold were hypomethylated (ß < 0), whereas the remaining genes were hypermethylated (ß > 0)