francine blumental de abreu - PHL © Elysio - FUNDAÇÃO ANTÔNIO ...
francine blumental de abreu - PHL © Elysio - FUNDAÇÃO ANTÔNIO ...
francine blumental de abreu - PHL © Elysio - FUNDAÇÃO ANTÔNIO ...
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Tabela 11 - Alterações novas raras e raras <strong>de</strong>tectadas no grupo 1 após comparação com o grupo <strong>de</strong> referência.<br />
Novas Raras<br />
Região<br />
Cromossômica<br />
Raras<br />
Casos Start End<br />
Tamanho<br />
(pb)<br />
Grupo<br />
Controle<br />
Nº <strong>de</strong><br />
Sondas<br />
Evento P valor Genes MicroRNA Presença<br />
<strong>de</strong> CNVs<br />
3p12.3 SM56 78990568 79028038 37470 0 4 P 5,29E-14 ROBO1 - -<br />
4q12 SM98 56785476 56809225 23749 0 3 G 5,32E-13 KIAA1211 - -<br />
6q24.3 VCS 146324451 146392895 68444 0 4 G 1,31E-13 SHPRH, GRM1 - -<br />
7p22.2 SM26 2513093 2536948 23855 0 3 G 1,32E-12 LFNG - -<br />
7p22.2 VCS 2106885 2127052 20167 0 3 G 1,93E-16 MAD1L1 - -<br />
11p11.2 SM98 46965179 46988641 23462 0 3 G 1,08E-13 C11orf49 - -<br />
14q23.1<br />
SM83<br />
SM173<br />
60588068<br />
60588068<br />
60606107<br />
60606107<br />
18039<br />
18039<br />
0<br />
0<br />
3<br />
3<br />
G<br />
G<br />
3,54E-13<br />
4,27E-15<br />
SLC38A6<br />
SLC38A6<br />
-<br />
-<br />
-<br />
-<br />
14q32.11 SM98 89113111 89136415 23304 0 3 G 3,80E-12 FOXN3, PRO1768 - -<br />
19q13.32 VCS 52220023 52266884 46861 0 4 G 4,03E-14 NPAS1, TMEM160, ZC3H4 - -<br />
21q22.3 SM26 45195687 45218964 23277 0 3 G 7,76E-13 C21orf70 - -<br />
21q22.3 SM173 42682926 42756744 73818 0 8 G 6,18E-16 TMPRSS3, UBASH3A - -<br />
Região<br />
Cromossômica<br />
Casos Start End<br />
Tamanho<br />
(pb)<br />
Grupo<br />
Controle<br />
Nº <strong>de</strong><br />
Sondas<br />
Evento P valor Genes MicroRNA Presença<br />
<strong>de</strong> CNVs<br />
1p31.1<br />
SM5<br />
VCS<br />
72541243<br />
72541243<br />
72681514<br />
72681514<br />
140271<br />
140271<br />
0<br />
0<br />
6<br />
6<br />
G<br />
G<br />
3,67E-19<br />
6,61E-17<br />
-<br />
-<br />
-<br />
-<br />
++<br />
++<br />
1p31.1 VCS 76801602 77352325 550723 0 34 P 1,33E-83 ST6GALNAC3, ST6GALNAC5, PIGK - +<br />
1p31.1 SM4 72541243 72652273 111030 1% 5 G 3,34E-33 - - ++<br />
1p36.13 SM60 16887848 17104545 216697 0 6 P 4,02E-13 ESPNP, MSTP9<br />
ACAP3, PUSL1, CPSF3L, GLTPD1,<br />
TAS1R3, DVL1, MXRA8, AURKAIP1,<br />
- ++<br />
1p36.33 SM26 1217817 1436882 219065 0 4 G 1,90E-23 CCNL2, LOC148413, MRPL20,<br />
LOC441869, TMEM88B, VWA1,<br />
ATAD3C, ATAD3B<br />
- ++<br />
1q21.1 SM174 147203077 147510732 307655 1% 16 P 6,15E-21 LOC645166 - ++<br />
1q25.1 SL167 173715270 173993630 278360 0 24 G 4,53E-56 TNR - +<br />
2p11.2 SM44 89387396 89902565 515169 1% 17 P 2,79E-26 - - ++<br />
2p11.2 - p11.1 SM174 89231429 91270511 2039082 0 29 P 6,84E-29 LOC654342 - ++<br />
65
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