This pipeline computes the correlation between significant copy number variation (cnv) genes and molecular subtypes.
Testing the association between copy number variation of 40 peak regions and 4 molecular subtypes across 51 patients, 8 significant findings detected with Q value < 0.25.
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Amp Peak 7(7p15.3) cnvs correlated to 'CN_CNMF'.
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Amp Peak 10(12q15) cnvs correlated to 'CN_CNMF', 'METHLYATION_CNMF', 'MIRSEQ_CNMF', and 'MIRSEQ_CHIERARCHICAL'.
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Del Peak 2(1p32.3) cnvs correlated to 'CN_CNMF'.
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Del Peak 5(3p21.31) cnvs correlated to 'CN_CNMF'.
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Del Peak 12(9p21.3) cnvs correlated to 'CN_CNMF'.
Table 1. Get Full Table Overview of the association between significant copy number variation of 40 regions and 4 molecular subtypes. Shown in the table are P values (Q values). Thresholded by Q value < 0.25, 8 significant findings detected.
|
Molecular subtypes |
CN CNMF |
METHLYATION CNMF |
MIRSEQ CNMF |
MIRSEQ CHIERARCHICAL |
||
| nCNV (%) | nWild-Type | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | |
| Amp Peak 10(12q15) | 26 (51%) | 25 |
5.35e-05 (0.0084) |
5.92e-08 (9.47e-06) |
2.19e-05 (0.00348) |
2.91e-05 (0.0046) |
| Amp Peak 7(7p15 3) | 19 (37%) | 32 |
0.000443 (0.0683) |
0.0166 (1.00) |
0.114 (1.00) |
0.152 (1.00) |
| Del Peak 2(1p32 3) | 13 (25%) | 38 |
0.00103 (0.157) |
0.524 (1.00) |
0.0638 (1.00) |
0.0295 (1.00) |
| Del Peak 5(3p21 31) | 15 (29%) | 36 |
0.000289 (0.0451) |
0.0157 (1.00) |
0.238 (1.00) |
0.0569 (1.00) |
| Del Peak 12(9p21 3) | 24 (47%) | 27 |
0.000432 (0.0669) |
0.0394 (1.00) |
0.702 (1.00) |
0.24 (1.00) |
| Amp Peak 1(1p32 1) | 15 (29%) | 36 |
0.158 (1.00) |
0.221 (1.00) |
0.13 (1.00) |
0.278 (1.00) |
| Amp Peak 2(1q24 3) | 22 (43%) | 29 |
0.451 (1.00) |
0.406 (1.00) |
1 (1.00) |
1 (1.00) |
| Amp Peak 3(4p15 2) | 16 (31%) | 35 |
0.231 (1.00) |
0.0567 (1.00) |
0.697 (1.00) |
1 (1.00) |
| Amp Peak 4(5p14 2) | 21 (41%) | 30 |
0.628 (1.00) |
0.356 (1.00) |
0.697 (1.00) |
1 (1.00) |
| Amp Peak 5(6p21 1) | 12 (24%) | 39 |
0.645 (1.00) |
0.00302 (0.452) |
0.41 (1.00) |
0.743 (1.00) |
| Amp Peak 6(6q25 1) | 14 (27%) | 37 |
0.044 (1.00) |
0.00284 (0.429) |
0.13 (1.00) |
0.278 (1.00) |
| Amp Peak 8(11q22 2) | 12 (24%) | 39 |
0.645 (1.00) |
0.131 (1.00) |
0.0205 (1.00) |
0.0463 (1.00) |
| Amp Peak 9(12p13 32) | 15 (29%) | 36 |
0.0792 (1.00) |
0.395 (1.00) |
0.0927 (1.00) |
0.225 (1.00) |
| Amp Peak 11(17p12) | 18 (35%) | 33 |
0.0209 (1.00) |
0.761 (1.00) |
0.192 (1.00) |
0.103 (1.00) |
| Amp Peak 12(19p13 2) | 21 (41%) | 30 |
0.00571 (0.851) |
0.771 (1.00) |
0.41 (1.00) |
0.0647 (1.00) |
| Amp Peak 13(Xq21 1) | 10 (20%) | 41 |
0.213 (1.00) |
0.0807 (1.00) |
1 (1.00) |
1 (1.00) |
| Del Peak 1(1p36 32) | 18 (35%) | 33 |
0.533 (1.00) |
0.0501 (1.00) |
0.226 (1.00) |
0.0985 (1.00) |
| Del Peak 3(1q44) | 18 (35%) | 33 |
0.0152 (1.00) |
0.00212 (0.322) |
0.697 (1.00) |
1 (1.00) |
| Del Peak 4(2q37 3) | 24 (47%) | 27 |
0.0738 (1.00) |
0.212 (1.00) |
0.272 (1.00) |
0.345 (1.00) |
| Del Peak 6(3q25 1) | 17 (33%) | 34 |
0.0198 (1.00) |
0.0909 (1.00) |
0.13 (1.00) |
0.0388 (1.00) |
| Del Peak 7(4q35 1) | 25 (49%) | 26 |
0.0977 (1.00) |
0.3 (1.00) |
0.264 (1.00) |
0.264 (1.00) |
| Del Peak 8(5q23 3) | 10 (20%) | 41 |
0.549 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
| Del Peak 9(6q15) | 14 (27%) | 37 |
0.62 (1.00) |
0.532 (1.00) |
0.663 (1.00) |
0.119 (1.00) |
| Del Peak 10(7q36 3) | 14 (27%) | 37 |
0.376 (1.00) |
0.532 (1.00) |
0.663 (1.00) |
0.741 (1.00) |
| Del Peak 11(8p23 2) | 16 (31%) | 35 |
0.0561 (1.00) |
0.0661 (1.00) |
0.249 (1.00) |
0.0769 (1.00) |
| Del Peak 13(9q34 3) | 15 (29%) | 36 |
0.857 (1.00) |
0.119 (1.00) |
1 (1.00) |
1 (1.00) |
| Del Peak 14(10p15 3) | 23 (45%) | 28 |
0.266 (1.00) |
0.728 (1.00) |
0.466 (1.00) |
0.422 (1.00) |
| Del Peak 15(11p15 5) | 23 (45%) | 28 |
0.591 (1.00) |
1 (1.00) |
1 (1.00) |
0.438 (1.00) |
| Del Peak 16(11q22 3) | 21 (41%) | 30 |
0.00672 (0.995) |
0.205 (1.00) |
0.716 (1.00) |
0.825 (1.00) |
| Del Peak 17(11q24 3) | 23 (45%) | 28 |
0.0892 (1.00) |
0.177 (1.00) |
1 (1.00) |
1 (1.00) |
| Del Peak 18(12p12 3) | 13 (25%) | 38 |
0.113 (1.00) |
0.222 (1.00) |
0.454 (1.00) |
0.784 (1.00) |
| Del Peak 19(13q14 2) | 37 (73%) | 14 |
1 (1.00) |
0.212 (1.00) |
0.433 (1.00) |
0.629 (1.00) |
| Del Peak 20(14q24 1) | 25 (49%) | 26 |
0.0303 (1.00) |
0.361 (1.00) |
0.272 (1.00) |
0.345 (1.00) |
| Del Peak 21(17p13 1) | 15 (29%) | 36 |
0.0228 (1.00) |
0.0437 (1.00) |
0.406 (1.00) |
0.443 (1.00) |
| Del Peak 22(17q25 3) | 14 (27%) | 37 |
0.411 (1.00) |
0.681 (1.00) |
1 (1.00) |
1 (1.00) |
| Del Peak 23(19p13 3) | 15 (29%) | 36 |
0.147 (1.00) |
0.0797 (1.00) |
1 (1.00) |
1 (1.00) |
| Del Peak 24(19q13 33) | 17 (33%) | 34 |
0.866 (1.00) |
0.149 (1.00) |
0.466 (1.00) |
0.422 (1.00) |
| Del Peak 25(21q22 3) | 20 (39%) | 31 |
0.254 (1.00) |
0.52 (1.00) |
0.702 (1.00) |
0.817 (1.00) |
| Del Peak 26(Xq21 1) | 26 (51%) | 25 |
0.489 (1.00) |
0.234 (1.00) |
0.462 (1.00) |
0.579 (1.00) |
| Del Peak 27(Xq28) | 25 (49%) | 26 |
0.636 (1.00) |
0.0211 (1.00) |
0.274 (1.00) |
0.251 (1.00) |
P value = 0.000443 (Fisher's exact test), Q value = 0.068
Table S1. Gene #7: 'Amp Peak 7(7p15.3) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
| nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
|---|---|---|---|
| ALL | 13 | 16 | 22 |
| AMP PEAK 7(7P15.3) MUTATED | 6 | 11 | 2 |
| AMP PEAK 7(7P15.3) WILD-TYPE | 7 | 5 | 20 |
Figure S1. Get High-res Image Gene #7: 'Amp Peak 7(7p15.3) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
P value = 5.35e-05 (Fisher's exact test), Q value = 0.0084
Table S2. Gene #10: 'Amp Peak 10(12q15) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
| nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
|---|---|---|---|
| ALL | 13 | 16 | 22 |
| AMP PEAK 10(12Q15) MUTATED | 13 | 7 | 6 |
| AMP PEAK 10(12Q15) WILD-TYPE | 0 | 9 | 16 |
Figure S2. Get High-res Image Gene #10: 'Amp Peak 10(12q15) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
P value = 5.92e-08 (Fisher's exact test), Q value = 9.5e-06
Table S3. Gene #10: 'Amp Peak 10(12q15) mutation analysis' versus Clinical Feature #2: 'METHLYATION_CNMF'
| nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
|---|---|---|---|
| ALL | 18 | 15 | 18 |
| AMP PEAK 10(12Q15) MUTATED | 14 | 12 | 0 |
| AMP PEAK 10(12Q15) WILD-TYPE | 4 | 3 | 18 |
Figure S3. Get High-res Image Gene #10: 'Amp Peak 10(12q15) mutation analysis' versus Clinical Feature #2: 'METHLYATION_CNMF'
P value = 2.19e-05 (Fisher's exact test), Q value = 0.0035
Table S4. Gene #10: 'Amp Peak 10(12q15) mutation analysis' versus Clinical Feature #3: 'MIRSEQ_CNMF'
| nPatients | CLUS_1 | CLUS_2 |
|---|---|---|
| ALL | 16 | 13 |
| AMP PEAK 10(12Q15) MUTATED | 14 | 1 |
| AMP PEAK 10(12Q15) WILD-TYPE | 2 | 12 |
Figure S4. Get High-res Image Gene #10: 'Amp Peak 10(12q15) mutation analysis' versus Clinical Feature #3: 'MIRSEQ_CNMF'
P value = 2.91e-05 (Fisher's exact test), Q value = 0.0046
Table S5. Gene #10: 'Amp Peak 10(12q15) mutation analysis' versus Clinical Feature #4: 'MIRSEQ_CHIERARCHICAL'
| nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
|---|---|---|---|
| ALL | 1 | 12 | 16 |
| AMP PEAK 10(12Q15) MUTATED | 0 | 1 | 14 |
| AMP PEAK 10(12Q15) WILD-TYPE | 1 | 11 | 2 |
Figure S5. Get High-res Image Gene #10: 'Amp Peak 10(12q15) mutation analysis' versus Clinical Feature #4: 'MIRSEQ_CHIERARCHICAL'
P value = 0.00103 (Fisher's exact test), Q value = 0.16
Table S6. Gene #15: 'Del Peak 2(1p32.3) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
| nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
|---|---|---|---|
| ALL | 13 | 16 | 22 |
| DEL PEAK 2(1P32.3) MUTATED | 0 | 9 | 4 |
| DEL PEAK 2(1P32.3) WILD-TYPE | 13 | 7 | 18 |
Figure S6. Get High-res Image Gene #15: 'Del Peak 2(1p32.3) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
P value = 0.000289 (Fisher's exact test), Q value = 0.045
Table S7. Gene #18: 'Del Peak 5(3p21.31) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
| nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
|---|---|---|---|
| ALL | 13 | 16 | 22 |
| DEL PEAK 5(3P21.31) MUTATED | 4 | 10 | 1 |
| DEL PEAK 5(3P21.31) WILD-TYPE | 9 | 6 | 21 |
Figure S7. Get High-res Image Gene #18: 'Del Peak 5(3p21.31) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
P value = 0.000432 (Fisher's exact test), Q value = 0.067
Table S8. Gene #25: 'Del Peak 12(9p21.3) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
| nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
|---|---|---|---|
| ALL | 13 | 16 | 22 |
| DEL PEAK 12(9P21.3) MUTATED | 7 | 13 | 4 |
| DEL PEAK 12(9P21.3) WILD-TYPE | 6 | 3 | 18 |
Figure S8. Get High-res Image Gene #25: 'Del Peak 12(9p21.3) mutation analysis' versus Clinical Feature #1: 'CN_CNMF'
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Copy number data file = All Lesions File (all_lesions.conf_##.txt, where ## is the confidence level). The all lesions file is from GISTIC pipeline and summarizes the results from the GISTIC run. It contains data about the significant regions of amplification and deletion as well as which samples are amplified or deleted in each of these regions. The identified regions are listed down the first column, and the samples are listed across the first row, starting in column 10.
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Molecular subtype file = SARC-TP.transferedmergedcluster.txt
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Number of patients = 51
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Number of copy number variation regions = 40
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Number of molecular subtypes = 4
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Exclude regions that fewer than K tumors have alterations, K = 3
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.