This pipeline computes the correlation between significant copy number variation (cnv focal) genes and selected clinical features.
Testing the association between copy number variation 29 focal events and 15 clinical features across 475 patients, 14 significant findings detected with Q value < 0.25.
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DEL PEAK 2(2P23.1) MUTATION ANALYSIS cnv correlated to 'NUMBER.OF.LYMPH.NODES'.
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DEL PEAK 3(2Q35) MUTATION ANALYSIS cnv correlated to 'NEOPLASM.DISEASESTAGE' and 'NUMBER.OF.LYMPH.NODES'.
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DEL PEAK 6(6Q22.31) MUTATION ANALYSIS cnv correlated to 'Time to Death'.
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DEL PEAK 9(8P23.2) MUTATION ANALYSIS cnv correlated to 'NUMBER.OF.LYMPH.NODES'.
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DEL PEAK 10(8P22) MUTATION ANALYSIS cnv correlated to 'NUMBER.OF.LYMPH.NODES'.
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DEL PEAK 11(8P12) MUTATION ANALYSIS cnv correlated to 'NUMBER.OF.LYMPH.NODES'.
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DEL PEAK 12(8Q24.22) MUTATION ANALYSIS cnv correlated to 'NUMBER.OF.LYMPH.NODES'.
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DEL PEAK 13(9Q21.13) MUTATION ANALYSIS cnv correlated to 'NEOPLASM.DISEASESTAGE'.
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DEL PEAK 16(11P15.1) MUTATION ANALYSIS cnv correlated to 'AGE' and 'NEOPLASM.DISEASESTAGE'.
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DEL PEAK 24(18Q22.2) MUTATION ANALYSIS cnv correlated to 'NUMBER.OF.LYMPH.NODES'.
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DEL PEAK 34(XQ22.3) MUTATION ANALYSIS cnv correlated to 'NEOPLASM.DISEASESTAGE' and 'NUMBER.OF.LYMPH.NODES'.
Clinical Features |
Time to Death |
AGE |
NEOPLASM DISEASESTAGE |
PATHOLOGY T STAGE |
PATHOLOGY N STAGE |
PATHOLOGY M STAGE |
GENDER |
HISTOLOGICAL TYPE |
RADIATIONS RADIATION REGIMENINDICATION |
RADIATIONEXPOSURE |
EXTRATHYROIDAL EXTENSION |
COMPLETENESS OF RESECTION |
NUMBER OF LYMPH NODES |
MULTIFOCALITY |
TUMOR SIZE |
||
nCNV (%) | nWild-Type | logrank test | t-test | Chi-square test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | t-test | Fisher's exact test | t-test | |
DEL PEAK 3(2Q35) MUTATION ANALYSIS | 11 (2%) | 464 |
0.0467 (1.00) |
0.0587 (1.00) |
0.000198 (0.0835) |
0.624 (1.00) |
0.00731 (1.00) |
0.0323 (1.00) |
0.49 (1.00) |
0.0157 (1.00) |
1 (1.00) |
0.343 (1.00) |
0.531 (1.00) |
0.207 (1.00) |
3.83e-25 (1.66e-22) |
1 (1.00) |
0.202 (1.00) |
DEL PEAK 16(11P15 1) MUTATION ANALYSIS | 7 (1%) | 468 |
0.00188 (0.776) |
0.000502 (0.211) |
2.17e-07 (9.24e-05) |
0.189 (1.00) |
0.449 (1.00) |
0.0928 (1.00) |
0.0155 (1.00) |
0.827 (1.00) |
0.19 (1.00) |
1 (1.00) |
0.536 (1.00) |
0.504 (1.00) |
0.0804 (1.00) |
0.708 (1.00) |
0.0349 (1.00) |
DEL PEAK 34(XQ22 3) MUTATION ANALYSIS | 4 (1%) | 471 |
0.748 (1.00) |
0.0809 (1.00) |
1.57e-06 (0.000667) |
0.056 (1.00) |
0.123 (1.00) |
0.103 (1.00) |
0.0577 (1.00) |
1 (1.00) |
1 (1.00) |
0.117 (1.00) |
0.636 (1.00) |
0.298 (1.00) |
4.19e-25 (1.81e-22) |
1 (1.00) |
0.863 (1.00) |
DEL PEAK 2(2P23 1) MUTATION ANALYSIS | 12 (3%) | 463 |
0.702 (1.00) |
0.657 (1.00) |
0.015 (1.00) |
0.887 (1.00) |
0.0201 (1.00) |
0.0258 (1.00) |
0.524 (1.00) |
0.00464 (1.00) |
1 (1.00) |
1 (1.00) |
0.0913 (1.00) |
0.509 (1.00) |
2.53e-09 (1.08e-06) |
0.779 (1.00) |
0.879 (1.00) |
DEL PEAK 6(6Q22 31) MUTATION ANALYSIS | 6 (1%) | 469 |
9.71e-05 (0.0411) |
0.0478 (1.00) |
0.185 (1.00) |
0.904 (1.00) |
0.372 (1.00) |
0.0169 (1.00) |
0.19 (1.00) |
0.789 (1.00) |
0.165 (1.00) |
0.188 (1.00) |
0.348 (1.00) |
0.682 (1.00) |
0.002 (0.823) |
0.691 (1.00) |
0.0497 (1.00) |
DEL PEAK 9(8P23 2) MUTATION ANALYSIS | 4 (1%) | 471 |
0.867 (1.00) |
0.998 (1.00) |
0.188 (1.00) |
1 (1.00) |
0.248 (1.00) |
0.373 (1.00) |
0.0577 (1.00) |
0.472 (1.00) |
1 (1.00) |
1 (1.00) |
0.636 (1.00) |
1 (1.00) |
4.19e-25 (1.81e-22) |
1 (1.00) |
0.879 (1.00) |
DEL PEAK 10(8P22) MUTATION ANALYSIS | 4 (1%) | 471 |
0.867 (1.00) |
0.998 (1.00) |
0.188 (1.00) |
1 (1.00) |
0.248 (1.00) |
0.373 (1.00) |
0.0577 (1.00) |
0.472 (1.00) |
1 (1.00) |
1 (1.00) |
0.636 (1.00) |
1 (1.00) |
4.19e-25 (1.81e-22) |
1 (1.00) |
0.879 (1.00) |
DEL PEAK 11(8P12) MUTATION ANALYSIS | 4 (1%) | 471 |
0.867 (1.00) |
0.998 (1.00) |
0.188 (1.00) |
1 (1.00) |
0.248 (1.00) |
0.373 (1.00) |
0.0577 (1.00) |
0.472 (1.00) |
1 (1.00) |
1 (1.00) |
0.636 (1.00) |
1 (1.00) |
4.19e-25 (1.81e-22) |
1 (1.00) |
0.879 (1.00) |
DEL PEAK 12(8Q24 22) MUTATION ANALYSIS | 7 (1%) | 468 |
0.837 (1.00) |
0.376 (1.00) |
0.105 (1.00) |
0.784 (1.00) |
0.061 (1.00) |
0.739 (1.00) |
0.0155 (1.00) |
0.16 (1.00) |
1 (1.00) |
1 (1.00) |
0.75 (1.00) |
0.504 (1.00) |
4.1e-25 (1.77e-22) |
1 (1.00) |
0.335 (1.00) |
DEL PEAK 13(9Q21 13) MUTATION ANALYSIS | 19 (4%) | 456 |
0.0702 (1.00) |
0.0091 (1.00) |
5.93e-11 (2.54e-08) |
0.314 (1.00) |
0.8 (1.00) |
0.0319 (1.00) |
0.117 (1.00) |
0.673 (1.00) |
0.44 (1.00) |
0.534 (1.00) |
0.0686 (1.00) |
0.741 (1.00) |
0.418 (1.00) |
0.817 (1.00) |
0.168 (1.00) |
DEL PEAK 24(18Q22 2) MUTATION ANALYSIS | 5 (1%) | 470 |
0.703 (1.00) |
0.278 (1.00) |
0.312 (1.00) |
0.179 (1.00) |
0.623 (1.00) |
0.688 (1.00) |
1 (1.00) |
0.579 (1.00) |
1 (1.00) |
1 (1.00) |
0.438 (1.00) |
1 (1.00) |
6.71e-05 (0.0284) |
0.38 (1.00) |
0.317 (1.00) |
AMP PEAK 1(XQ22 3) MUTATION ANALYSIS | 15 (3%) | 460 |
0.345 (1.00) |
0.398 (1.00) |
0.0116 (1.00) |
0.717 (1.00) |
0.575 (1.00) |
0.454 (1.00) |
0.0148 (1.00) |
0.576 (1.00) |
1 (1.00) |
1 (1.00) |
0.0123 (1.00) |
1 (1.00) |
0.826 (1.00) |
0.302 (1.00) |
0.936 (1.00) |
DEL PEAK 4(5P15 2) MUTATION ANALYSIS | 4 (1%) | 471 |
0.916 (1.00) |
0.239 (1.00) |
0.719 (1.00) |
0.623 (1.00) |
0.623 (1.00) |
0.189 (1.00) |
0.577 (1.00) |
0.0311 (1.00) |
1 (1.00) |
1 (1.00) |
0.403 (1.00) |
0.06 (1.00) |
0.182 (1.00) |
0.338 (1.00) |
0.273 (1.00) |
DEL PEAK 8(7Q34) MUTATION ANALYSIS | 4 (1%) | 471 |
0.758 (1.00) |
0.81 (1.00) |
0.795 (1.00) |
0.547 (1.00) |
0.623 (1.00) |
1 (1.00) |
1 (1.00) |
0.129 (1.00) |
1 (1.00) |
1 (1.00) |
0.636 (1.00) |
1 (1.00) |
0.23 (1.00) |
0.628 (1.00) |
0.191 (1.00) |
DEL PEAK 14(10Q21 2) MUTATION ANALYSIS | 11 (2%) | 464 |
0.633 (1.00) |
0.997 (1.00) |
0.943 (1.00) |
0.84 (1.00) |
0.338 (1.00) |
0.628 (1.00) |
0.49 (1.00) |
0.52 (1.00) |
0.283 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
0.489 (1.00) |
0.524 (1.00) |
0.141 (1.00) |
DEL PEAK 15(10Q23 31) MUTATION ANALYSIS | 11 (2%) | 464 |
0.626 (1.00) |
0.0266 (1.00) |
0.00878 (1.00) |
0.804 (1.00) |
0.0201 (1.00) |
0.154 (1.00) |
0.168 (1.00) |
0.25 (1.00) |
1 (1.00) |
1 (1.00) |
0.821 (1.00) |
0.696 (1.00) |
0.00127 (0.528) |
1 (1.00) |
0.0225 (1.00) |
DEL PEAK 17(13Q12 3) MUTATION ANALYSIS | 14 (3%) | 461 |
0.36 (1.00) |
0.00165 (0.684) |
0.0732 (1.00) |
0.676 (1.00) |
0.14 (1.00) |
0.114 (1.00) |
0.06 (1.00) |
0.507 (1.00) |
0.346 (1.00) |
0.00108 (0.452) |
0.858 (1.00) |
0.63 (1.00) |
0.062 (1.00) |
0.427 (1.00) |
0.493 (1.00) |
DEL PEAK 18(13Q21 31) MUTATION ANALYSIS | 15 (3%) | 460 |
0.36 (1.00) |
0.0619 (1.00) |
0.653 (1.00) |
0.771 (1.00) |
0.0874 (1.00) |
0.231 (1.00) |
0.0787 (1.00) |
0.511 (1.00) |
0.0681 (1.00) |
0.00108 (0.452) |
0.752 (1.00) |
0.654 (1.00) |
0.00156 (0.649) |
0.119 (1.00) |
0.653 (1.00) |
DEL PEAK 19(15Q25 3) MUTATION ANALYSIS | 7 (1%) | 468 |
0.687 (1.00) |
0.666 (1.00) |
0.105 (1.00) |
0.269 (1.00) |
0.122 (1.00) |
0.0181 (1.00) |
0.682 (1.00) |
0.0304 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
0.737 (1.00) |
0.25 (1.00) |
0.708 (1.00) |
0.397 (1.00) |
DEL PEAK 21(16Q23 3) MUTATION ANALYSIS | 5 (1%) | 470 |
0.748 (1.00) |
0.0803 (1.00) |
0.0298 (1.00) |
0.0713 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
0.0813 (1.00) |
1 (1.00) |
0.188 (1.00) |
0.0312 (1.00) |
0.223 (1.00) |
0.725 (1.00) |
0.665 (1.00) |
0.904 (1.00) |
DEL PEAK 22(17P13 1) MUTATION ANALYSIS | 7 (1%) | 468 |
0.597 (1.00) |
0.701 (1.00) |
0.517 (1.00) |
0.132 (1.00) |
0.449 (1.00) |
0.335 (1.00) |
0.682 (1.00) |
0.16 (1.00) |
0.0156 (1.00) |
0.254 (1.00) |
0.176 (1.00) |
0.737 (1.00) |
0.929 (1.00) |
1 (1.00) |
0.0909 (1.00) |
DEL PEAK 23(18P11 21) MUTATION ANALYSIS | 4 (1%) | 471 |
0.754 (1.00) |
0.555 (1.00) |
0.188 (1.00) |
0.334 (1.00) |
1 (1.00) |
0.373 (1.00) |
1 (1.00) |
0.472 (1.00) |
1 (1.00) |
1 (1.00) |
0.636 (1.00) |
1 (1.00) |
0.002 (0.823) |
0.628 (1.00) |
0.24 (1.00) |
DEL PEAK 25(19P13 2) MUTATION ANALYSIS | 6 (1%) | 469 |
0.00116 (0.484) |
0.0554 (1.00) |
0.57 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
0.19 (1.00) |
1 (1.00) |
1 (1.00) |
0.0212 (1.00) |
0.736 (1.00) |
0.0988 (1.00) |
0.691 (1.00) |
0.00552 (1.00) |
|
DEL PEAK 28(21Q21 1) MUTATION ANALYSIS | 9 (2%) | 466 |
0.843 (1.00) |
0.0667 (1.00) |
0.00754 (1.00) |
0.278 (1.00) |
1 (1.00) |
0.59 (1.00) |
0.704 (1.00) |
0.763 (1.00) |
1 (1.00) |
1 (1.00) |
0.605 (1.00) |
0.365 (1.00) |
0.895 (1.00) |
0.313 (1.00) |
0.64 (1.00) |
DEL PEAK 29(22Q13 1) MUTATION ANALYSIS | 82 (17%) | 393 |
0.607 (1.00) |
0.847 (1.00) |
0.675 (1.00) |
0.378 (1.00) |
0.255 (1.00) |
0.503 (1.00) |
0.494 (1.00) |
0.262 (1.00) |
0.481 (1.00) |
0.331 (1.00) |
0.113 (1.00) |
0.536 (1.00) |
0.244 (1.00) |
0.14 (1.00) |
0.899 (1.00) |
DEL PEAK 30(22Q13 2) MUTATION ANALYSIS | 82 (17%) | 393 |
0.607 (1.00) |
0.847 (1.00) |
0.675 (1.00) |
0.378 (1.00) |
0.255 (1.00) |
0.503 (1.00) |
0.494 (1.00) |
0.262 (1.00) |
0.481 (1.00) |
0.331 (1.00) |
0.113 (1.00) |
0.536 (1.00) |
0.244 (1.00) |
0.14 (1.00) |
0.899 (1.00) |
DEL PEAK 31(22Q13 31) MUTATION ANALYSIS | 82 (17%) | 393 |
0.607 (1.00) |
0.847 (1.00) |
0.675 (1.00) |
0.378 (1.00) |
0.255 (1.00) |
0.503 (1.00) |
0.494 (1.00) |
0.262 (1.00) |
0.481 (1.00) |
0.331 (1.00) |
0.113 (1.00) |
0.536 (1.00) |
0.244 (1.00) |
0.14 (1.00) |
0.899 (1.00) |
DEL PEAK 32(22Q13 32) MUTATION ANALYSIS | 83 (17%) | 392 |
0.604 (1.00) |
0.889 (1.00) |
0.677 (1.00) |
0.36 (1.00) |
0.208 (1.00) |
0.628 (1.00) |
0.584 (1.00) |
0.191 (1.00) |
0.481 (1.00) |
0.333 (1.00) |
0.103 (1.00) |
0.536 (1.00) |
0.212 (1.00) |
0.111 (1.00) |
0.899 (1.00) |
DEL PEAK 33(XQ22 1) MUTATION ANALYSIS | 6 (1%) | 469 |
0.722 (1.00) |
0.204 (1.00) |
0.000795 (0.334) |
0.206 (1.00) |
0.685 (1.00) |
0.182 (1.00) |
0.0439 (1.00) |
1 (1.00) |
1 (1.00) |
0.188 (1.00) |
0.348 (1.00) |
0.293 (1.00) |
0.812 (1.00) |
0.421 (1.00) |
0.483 (1.00) |
P value = 2.53e-09 (t-test), Q value = 1.1e-06
nPatients | Mean (Std.Dev) | |
---|---|---|
ALL | 379 | 3.6 (6.2) |
DEL PEAK 2(2P23.1) MUTATED | 10 | 0.3 (0.9) |
DEL PEAK 2(2P23.1) WILD-TYPE | 369 | 3.7 (6.3) |
P value = 0.000198 (Chi-square test), Q value = 0.083
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV | STAGE IVA | STAGE IVC |
---|---|---|---|---|---|---|
ALL | 270 | 49 | 106 | 2 | 41 | 5 |
DEL PEAK 3(2Q35) MUTATED | 3 | 6 | 2 | 0 | 0 | 0 |
DEL PEAK 3(2Q35) WILD-TYPE | 267 | 43 | 104 | 2 | 41 | 5 |
P value = 3.83e-25 (t-test), Q value = 1.7e-22
nPatients | Mean (Std.Dev) | |
---|---|---|
ALL | 379 | 3.6 (6.2) |
DEL PEAK 3(2Q35) MUTATED | 8 | 0.0 (0.0) |
DEL PEAK 3(2Q35) WILD-TYPE | 371 | 3.6 (6.3) |
P value = 9.71e-05 (logrank test), Q value = 0.041
nPatients | nDeath | Duration Range (Median), Month | |
---|---|---|---|
ALL | 470 | 13 | 0.0 - 158.8 (14.2) |
DEL PEAK 6(6Q22.31) MUTATED | 5 | 2 | 1.6 - 54.1 (33.6) |
DEL PEAK 6(6Q22.31) WILD-TYPE | 465 | 11 | 0.0 - 158.8 (14.0) |
P value = 4.19e-25 (t-test), Q value = 1.8e-22
nPatients | Mean (Std.Dev) | |
---|---|---|
ALL | 379 | 3.6 (6.2) |
DEL PEAK 9(8P23.2) MUTATED | 4 | 0.0 (0.0) |
DEL PEAK 9(8P23.2) WILD-TYPE | 375 | 3.6 (6.3) |
P value = 4.19e-25 (t-test), Q value = 1.8e-22
nPatients | Mean (Std.Dev) | |
---|---|---|
ALL | 379 | 3.6 (6.2) |
DEL PEAK 10(8P22) MUTATED | 4 | 0.0 (0.0) |
DEL PEAK 10(8P22) WILD-TYPE | 375 | 3.6 (6.3) |
P value = 4.19e-25 (t-test), Q value = 1.8e-22
nPatients | Mean (Std.Dev) | |
---|---|---|
ALL | 379 | 3.6 (6.2) |
DEL PEAK 11(8P12) MUTATED | 4 | 0.0 (0.0) |
DEL PEAK 11(8P12) WILD-TYPE | 375 | 3.6 (6.3) |
P value = 4.1e-25 (t-test), Q value = 1.8e-22
nPatients | Mean (Std.Dev) | |
---|---|---|
ALL | 379 | 3.6 (6.2) |
DEL PEAK 12(8Q24.22) MUTATED | 5 | 0.0 (0.0) |
DEL PEAK 12(8Q24.22) WILD-TYPE | 374 | 3.6 (6.3) |
P value = 5.93e-11 (Chi-square test), Q value = 2.5e-08
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV | STAGE IVA | STAGE IVC |
---|---|---|---|---|---|---|
ALL | 270 | 49 | 106 | 2 | 41 | 5 |
DEL PEAK 13(9Q21.13) MUTATED | 6 | 5 | 3 | 2 | 3 | 0 |
DEL PEAK 13(9Q21.13) WILD-TYPE | 264 | 44 | 103 | 0 | 38 | 5 |
P value = 0.000502 (t-test), Q value = 0.21
nPatients | Mean (Std.Dev) | |
---|---|---|
ALL | 475 | 47.0 (15.5) |
DEL PEAK 16(11P15.1) MUTATED | 7 | 68.1 (8.7) |
DEL PEAK 16(11P15.1) WILD-TYPE | 468 | 46.7 (15.4) |
P value = 2.17e-07 (Chi-square test), Q value = 9.2e-05
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV | STAGE IVA | STAGE IVC |
---|---|---|---|---|---|---|
ALL | 270 | 49 | 106 | 2 | 41 | 5 |
DEL PEAK 16(11P15.1) MUTATED | 1 | 1 | 4 | 1 | 0 | 0 |
DEL PEAK 16(11P15.1) WILD-TYPE | 269 | 48 | 102 | 1 | 41 | 5 |
P value = 6.71e-05 (t-test), Q value = 0.028
nPatients | Mean (Std.Dev) | |
---|---|---|
ALL | 379 | 3.6 (6.2) |
DEL PEAK 24(18Q22.2) MUTATED | 5 | 0.4 (0.9) |
DEL PEAK 24(18Q22.2) WILD-TYPE | 374 | 3.6 (6.3) |
P value = 1.57e-06 (Chi-square test), Q value = 0.00067
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV | STAGE IVA | STAGE IVC |
---|---|---|---|---|---|---|
ALL | 270 | 49 | 106 | 2 | 41 | 5 |
DEL PEAK 34(XQ22.3) MUTATED | 0 | 4 | 0 | 0 | 0 | 0 |
DEL PEAK 34(XQ22.3) WILD-TYPE | 270 | 45 | 106 | 2 | 41 | 5 |
P value = 4.19e-25 (t-test), Q value = 1.8e-22
nPatients | Mean (Std.Dev) | |
---|---|---|
ALL | 379 | 3.6 (6.2) |
DEL PEAK 34(XQ22.3) MUTATED | 4 | 0.0 (0.0) |
DEL PEAK 34(XQ22.3) WILD-TYPE | 375 | 3.6 (6.3) |
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Copy number data file = transformed.cor.cli.txt
-
Clinical data file = THCA-TP.clin.merged.picked.txt
-
Number of patients = 475
-
Number of significantly focal cnvs = 29
-
Number of selected clinical features = 15
-
Exclude genes that fewer than K tumors have mutations, K = 3
For survival clinical features, the Kaplan-Meier survival curves of tumors with and without gene mutations were plotted and the statistical significance P values were estimated by logrank test (Bland and Altman 2004) using the 'survdiff' function in R
For continuous numerical clinical features, two-tailed Student's t test with unequal variance (Lehmann and Romano 2005) was applied to compare the clinical values between tumors with and without gene mutations using 't.test' function in R
For multi-class clinical features (nominal or ordinal), Chi-square tests (Greenwood and Nikulin 1996) were used to estimate the P values using the 'chisq.test' function in R
For binary or multi-class clinical features (nominal or ordinal), two-tailed Fisher's exact tests (Fisher 1922) were used to estimate the P values using the 'fisher.test' function in R
For multiple hypothesis correction, Q value is the False Discovery Rate (FDR) analogue of the P value (Benjamini and Hochberg 1995), defined as the minimum FDR at which the test may be called significant. We used the 'Benjamini and Hochberg' method of 'p.adjust' function in R to convert P values into Q values.
In addition to the links below, the full results of the analysis summarized in this report can also be downloaded programmatically using firehose_get, or interactively from either the Broad GDAC website or TCGA Data Coordination Center Portal.