Table 4.
Novel DS dosage effects
| Ensembl | HUGO | Score | Entropy | Chromo-some | Start position |
End position |
Band | CNV |
|---|---|---|---|---|---|---|---|---|
| ENSG00000133110 | POSTN | 8.301 | 2.437 | chr13 | 38136722 | 38172981 | q13.3 | YES |
| ENSG00000135919 | SERPINE2 | 5.904 | 3.048 | chr2 | 224839765 | 224904036 | q36.1 | |
| ENSG00000172893 | DHCR7 | 5.883 | 3.441 | chr11 | 71145457 | 71159477 | q13.4 | |
| ENSG00000135744 | AGT | 5.467 | 2.799 | chr1 | 230838269 | 230850043 | q42.2 | |
| ENSG00000159176 | CSRP1 | 5.424 | 3.136 | chr1 | 201452658 | 201478584 | q32.1 | |
| ENSG00000178695 | KCTD12 | 5.344 | 2.373 | chr13 | 77454312 | 77460540 | q22.3 | |
| ENSG00000183087 | GAS6 | 5.129 | 2.904 | chr13 | 114523524 | 114567046 | q34 | |
| ENSG00000164106 | SCRG1 | 5.127 | 2.728 | chr4 | 174309300 | 174320617 | q34.1 | |
| ENSG00000166923 | GREM1 | 5.073 | 1.486 | chr15 | 33010175 | 33026870 | q13.3 | YES |
| ENSG00000163754 | GYG1 | 4.933 | 3.129 | chr3 | 148709128 | 148745419 | q24 | |
| ENSG00000155380 | SLC16A1 | 4.878 | 2.927 | chr1 | 113454469 | 113499635 | p13.2 | YES |
| ENSG00000166033 | HTRA1 | 4.811 | 3.101 | chr10 | 124221041 | 124274424 | q26.13 | YES |
| ENSG00000145632 | PLK2 | 4.785 | 2.811 | chr5 | 57749809 | 57756087 | q11.2 | |
| ENSG00000115380 | EFEMP1 | 4.726 | 2.257 | chr2 | 56093102 | 56151274 | p16.1 | |
| ENSG00000060237 | WNK1 | 4.637 | 2.765 | chr12 | 862089 | 1020618 | p13.33 | YES |
| ENSG00000103888 | KIAA1199 | 4.581 | 0.885 | chr15 | 81071684 | 81244117 | q25.1 | |
| ENSG00000113810 | SMC4 | 4.462 | 3.372 | chr3 | 160117062 | 160152750 | q25.33 | |
| ENSG00000198356 | ASNA1 | 4.431 | 3.067 | chr19 | 12848306 | 12859137 | p13.2 | |
| ENSG00000122952 | ZWINT | 4.415 | 3.266 | chr10 | 58116989 | 58121036 | q21.1 | |
| ENSG00000157005 | SST | 4.401 | 1.954 | chr3 | 187386694 | 187388187 | q27.3 | |
| ENSG00000117519 | CNN3 | 4.384 | 3.253 | chr1 | 95362507 | 95392834 | p21.3 | |
| ENSG00000107104 | KANK1 | 4.352 | 2.508 | chr9 | 470291 | 746105 | p24.3 | YES |
| ENSG00000151414 | NEK7 | 4.329 | 1.848 | chr1 | 198126121 | 198291550 | q31.3 | |
| ENSG00000044574 | HSPA5 | 4.261 | 3.449 | chr9 | 127997132 | 128003609 | q33.3 | |
| ENSG00000128590 | DNAJB9 | 4.251 | 3.241 | chr7 | 108210012 | 108215294 | q31.1 | |
| ENSG00000127920 | GNG11 | 4.226 | 2.747 | chr7 | 93551011 | 93555831 | q21.3 | |
| ENSG00000008083 | JARID2 | 4.161 | 3.203 | chr6 | 15246527 | 15522253 | p22.3 | |
| ENSG00000119938 | PPP1R3C | 4.159 | 3.036 | chr10 | 93388199 | 93392858 | q23.32 | |
| ENSG00000049245 | VAMP3 | 4.146 | 3.036 | chr1 | 7831329 | 7841492 | p36.23 | |
| ENSG00000120694 | HSPH1 | 4.129 | 3.310 | chr13 | 31710762 | 31736502 | q12.3 | |
| ENSG00000168214 | RBPJ | 4.127 | 3.291 | chr4 | 26321332 | 26436753 | p15.2 | |
| ENSG00000162909 | CAPN2 | 4.111 | 3.020 | chr1 | 223889347 | 223963720 | q41 | YES |
| ENSG00000166147 | FBN1 | 4.106 | 2.070 | chr15 | 48700505 | 48937918 | q21.1 | YES |
| ENSG00000100941 | PNN | 4.081 | 3.380 | chr14 | 39644425 | 39652422 | q21.1 | |
| ENSG00000132640 | BTBD3 | 4.074 | 3.478 | chr20 | 11871371 | 11907257 | p12.2 | YES |
| ENSG00000128708 | HAT1 | 4.064 | 3.158 | chr2 | 172778958 | 172848599 | q31.1 | YES |
| ENSG00000176105 | YES1 | 4.047 | 2.855 | chr18 | 721588 | 812327 | p11.32 | |
| ENSG00000152377 | SPOCK1 | 4.025 | 3.083 | chr5 | 136310987 | 136835037 | q31.2 | |
| ENSG00000136026 | CKAP4 | 4.018 | 2.754 | chr12 | 106631659 | 106641908 | q23.3 | |
| ENSG00000198121 | LPAR1 | 3.979 | 2.858 | chr9 | 113635543 | 113800738 | q31.3 | |
| ENSG00000140443 | IGF1R | 3.951 | 3.376 | chr15 | 99192200 | 99507759 | q26.3 | |
| ENSG00000198730 | CTR9 | 3.891 | 3.310 | chr11 | 10772803 | 10801287 | p15.3 | |
| ENSG00000162616 | DNAJB4 | 3.869 | 3.035 | chr1 | 78444859 | 78483648 | p31.1 | |
| ENSG00000104332 | SFRP1 | 3.825 | 2.587 | chr8 | 41119483 | 41166992 | p11.21 | |
| ENSG00000116473 | RAP1A | 3.824 | 2.769 | chr1 | 112084840 | 112259313 | p13.2 | |
| ENSG00000172500 | FIBP | 3.804 | 3.309 | chr11 | 65651211 | 65656010 | q13.1 | YES |
| ENSG00000133703 | KRAS | 3.801 | 3.338 | chr12 | 25358182 | 25403854 | p12.1 | |
| ENSG00000163032 | VSNL1 | 3.798 | 3.099 | chr2 | 17720393 | 17838285 | p24.2 | |
| ENSG00000134684 | YARS | 3.765 | 3.431 | chr1 | 33240840 | 33283754 | p35.1 | |
| ENSG00000105854 | PON2 | 3.764 | 2.862 | chr7 | 95034179 | 95064510 | q21.3 | |
| ENSG00000148943 | LIN7C | 3.763 | 3.033 | chr11 | 27516124 | 27528303 | p14.1 | |
| ENSG00000162734 | PEA15 | 3.747 | 3.418 | chr1 | 160175127 | 160185166 | q23.2 | |
| ENSG00000103187 | COTL1 | 3.731 | 3.304 | chr16 | 84599200 | 84651683 | q24.1 | YES |
| ENSG00000198648 | STK39 | 3.722 | 3.439 | chr2 | 168810530 | 169104651 | q24.3 | |
| ENSG00000100577 | GSTZ1 | 3.713 | 2.759 | chr14 | 77787230 | 77797939 | q24.3 | |
| ENSG00000080371 | RAB21 | 3.707 | 3.312 | chr12 | 72148658 | 72181150 | q21.1 | YES |
| ENSG00000136108 | CKAP2 | 3.688 | 2.960 | chr13 | 53029495 | 53050485 | q14.3 | |
| ENSG00000066583 | ISOC1 | 3.686 | 2.655 | chr5 | 128430442 | 128449721 | q23.3 | |
| ENSG00000143420 | ENSA | 3.681 | 3.276 | chr1 | 150573327 | 150602098 | q21.3 | |
| ENSG00000114353 | GNAI2 | 3.680 | 3.138 | chr3 | 50263724 | 50296787 | p21.31 | YES |
| ENSG00000140105 | WARS | 3.671 | 2.994 | chr14 | 100800125 | 100842680 | q32.2 | |
| ENSG00000018625 | ATP1A2 | 3.670 | 2.733 | chr1 | 160085549 | 160113381 | q23.2 |