Table 1.
Top thirty DS dosage effects on A) HSA21 and B) other chromosomes
| A) Direct effects | ||||||||
|---|---|---|---|---|---|---|---|---|
| Ensembl | HUGO | Score | Entropy | Chromo-some |
Start position |
End position |
Band | CNV |
| ENSG00000154734 | ADAMTS1 | 18.487 | 4.083 | chr21 | 28208606 | 28217728 | q21.3 | |
| ENSG00000159228 | CBR1 | 17.518 | 4.509 | chr21 | 37442239 | 37445464 | q22.12 | |
| ENSG00000159140 | SON | 15.920 | 4.712 | chr21 | 34914924 | 34949812 | q22.11 | |
| ENSG00000142168 | SOD1 | 15.817 | 4.372 | chr21 | 33031935 | 33041244 | q22.11 | |
| ENSG00000182670 | TTC3L, TTC3 | 15.637 | 4.542 | chr21 | 38445526 | 38575413 | q22.13 | |
| ENSG00000142192 | APP | 15.489 | 4.412 | chr21 | 27252861 | 27543446 | q21.3 | |
| ENSG00000159128 | IFNGR2 | 15.006 | 4.640 | chr21 | 34757299 | 34851655 | q22.11 | |
| ENSG00000182240 | BACE2 | 14.156 | 4.140 | chr21 | 42539728 | 42648524 | q22.2 | |
| ENSG00000156256 | USP16 | 13.713 | 4.378 | chr21 | 30396950 | 30426809 | q21.3 | |
| ENSG00000159131 | GART | 13.570 | 4.564 | chr21 | 34870940 | 34915797 | q22.11 | |
| ENSG00000157540 | DYRK1A | 13.163 | 4.405 | chr21 | 38739236 | 38887680 | q22.13 | |
| ENSG00000157557 | ETS2 | 13.088 | 4.440 | chr21 | 40177231 | 40196879 | q22.2 | |
| ENSG00000159231 | CBR3 | 12.185 | 3.954 | chr21 | 37507210 | 37518864 | q22.12 | YES |
| ENSG00000159082 | SYNJ1 | 11.880 | 4.284 | chr21 | 33997269 | 34100359 | q22.11 | |
| ENSG00000142188 | TMEM50B | 11.516 | 3.803 | chr21 | 34804792 | 34853499 | q22.11 | YES |
| ENSG00000159110 | IFNAR2 | 11.280 | 4.360 | chr21 | 34602206 | 34656082 | q22.11 | |
| ENSG00000157538 | DSCR3 | 11.254 | 4.316 | chr21 | 38591910 | 38640262 | q22.13 | |
| ENSG00000157601 | MX1 | 10.976 | 3.545 | chr21 | 42792231 | 42831141 | q22.3 | |
| ENSG00000159267 | HLCS | 10.764 | 4.183 | chr21 | 38123493 | 38362536 | q22.13 | YES |
| ENSG00000159200 | RCAN1 | 10.719 | 3.356 | chr21 | 35885440 | 35987441 | q22.12 | |
| ENSG00000159147 | DONSON | 10.435 | 4.295 | chr21 | 34947783 | 34961014 | q22.11 | |
| ENSG00000156261 | CCT8 | 10.361 | 4.560 | chr21 | 30428126 | 30446118 | q21.3 | |
| ENSG00000183486 | MX2 | 10.179 | 3.598 | chr21 | 42733870 | 42781317 | q22.3 | |
| ENSG00000154727 | GABPA | 9.936 | 4.032 | chr21 | 27106881 | 27144771 | q21.3 | |
| ENSG00000160200 | CBS | 9.284 | 3.907 | chr21 | 44473301 | 44497053 | q22.3 | |
| ENSG00000159216 | RUNX1 | 9.129 | 3.783 | chr21 | 36160098 | 37357047 | q22.12 | |
| ENSG00000183527 | PSMG1 | 8.903 | 3.733 | chr21 | 40546695 | 40555777 | q22.2 | |
| ENSG00000182093 | WRB | 8.837 | 4.149 | chr21 | 40752170 | 40800454 | q22.2 | |
| ENSG00000154736 | ADAMTS5 | 8.746 | 4.221 | chr21 | 28290231 | 28338832 | q21.3 | |
| ENSG00000159197 | KCNE2 | 8.654 | 3.660 | chr21 | 35736323 | 35743440 | q22.11 | YES |
| B) Indirect effects | ||||||||
| Ensembl | HUGO | Score | Entropy | Chromo-some |
Start position |
End position |
Band | CNV |
| ENSG00000117289 | TXNIP | 8.790 | 3.281 | chr1 | 145438469 | 145442635 | q21.1 | YES |
| ENSG00000133110 | POSTN | 8.301 | 2.437 | chr13 | 38136722 | 38172981 | q13.3 | YES |
| ENSG00000118785 | SPP1 | 7.232 | 3.159 | chr4 | 88896802 | 88904563 | q22.1 | |
| ENSG00000113140 | SPARC | 7.035 | 3.338 | chr5 | 151040657 | 151066726 | q33.1 | |
| ENSG00000125968 | ID1 | 6.987 | 3.164 | chr20 | 30193086 | 30194318 | q11.21 | |
| ENSG00000136235 | GPNMB | 6.943 | 2.047 | chr7 | 23275586 | 23314727 | p15.3 | |
| ENSG00000171951 | SCG2 | 6.747 | 2.950 | chr2 | 224461658 | 224467221 | q36.1 | |
| ENSG00000135821 | GLUL | 6.604 | 3.702 | chr1 | 182350839 | 182361341 | q25.3 | |
| ENSG00000123610 | TNFAIP6 | 6.575 | 2.377 | chr2 | 152214106 | 152236560 | q23.3 | |
| ENSG00000118523 | CTGF | 6.567 | 2.996 | chr6 | 132269316 | 132272513 | q23.2 | |
| ENSG00000168209 | DDIT4 | 6.477 | 3.318 | chr10 | 74033678 | 74035794 | q22.1 | |
| ENSG00000162407 | PPAP2B | 6.350 | 3.343 | chr1 | 56960419 | 57110974 | p32.2 | |
| ENSG00000038427 | VCAN | 6.240 | 2.958 | chr5 | 82767284 | 82878122 | q14.2 | |
| ENSG00000151491 | EPS8 | 6.194 | 3.143 | chr12 | 15773076 | 15942510 | p12.3 | |
| ENSG00000189067 | LITAF | 6.185 | 3.255 | chr16 | 11641582 | 11680806 | p13.13 | |
| ENSG00000164692 | COL1A2 | 6.148 | 2.852 | chr7 | 94023873 | 94060544 | q21.3 | |
| ENSG00000204388 | HSPA1B | 6.109 | 2.550 | chr6 | 31795688 | 31798031 | p21.33 | |
| ENSG00000162692 | VCAM1 | 6.012 | 2.533 | chr1 | 101185305 | 101204601 | p21.2 | |
| ENSG00000154096 | THY1 | 5.974 | 3.244 | chr11 | 119288888 | 119293854 | q23.3 | |
| ENSG00000135919 | SERPINE2 | 5.904 | 3.048 | chr2 | 224839765 | 224904036 | q36.1 | |
| ENSG00000172201 | ID4 | 5.887 | 3.037 | chr6 | 19837617 | 19840915 | p22.3 | |
| ENSG00000114315 | HES1 | 5.884 | 2.874 | chr3 | 193853934 | 193856521 | q29 | |
| ENSG00000172893 | DHCR7 | 5.883 | 3.441 | chr11 | 71145457 | 71159477 | q13.4 | |
| ENSG00000204262 | COL5A2 | 5.857 | 3.174 | chr2 | 189896622 | 190044605 | q32.2 | |
| ENSG00000149257 | SERPINH1 | 5.846 | 3.146 | chr11 | 75273170 | 75283844 | q13.5 | |
| ENSG00000176697 | BDNF | 5.805 | 2.416 | chr11 | 27676440 | 27743605 | p14.1 | |
| ENSG00000182551 | ADI1 | 5.782 | 3.081 | chr2 | 3501693 | 3523507 | p25.3 | |
| ENSG00000079739 | PGM1 | 5.661 | 3.251 | chr1 | 64058947 | 64125916 | p31.3 | |
| ENSG00000108821 | COL1A1 | 5.527 | 3.004 | chr17 | 48260650 | 48278993 | q21.33 | |
| ENSG00000187498 | COL4A1 | 5.514 | 3.396 | chr13 | 110801318 | 110959496 | q34 | |