Correlation between copy number variations of arm-level result and molecular subtypes
Uterine Carcinosarcoma (Primary solid tumor)
17 October 2014  |  analyses__2014_10_17
Maintainer Information
Citation Information
Maintained by TCGA GDAC Team (Broad Institute/MD Anderson Cancer Center/Harvard Medical School)
Cite as Broad Institute TCGA Genome Data Analysis Center (2014): Correlation between copy number variations of arm-level result and molecular subtypes. Broad Institute of MIT and Harvard. doi:10.7908/C1571B0J
Overview
Introduction

This pipeline computes the correlation between significant arm-level copy number variations (cnvs) and molecular subtypes.

Summary

Testing the association between copy number variation 77 arm-level events and 8 molecular subtypes across 56 patients, one significant finding detected with P value < 0.05 and Q value < 0.25.

  • 4q loss cnv correlated to 'MIRSEQ_CNMF'.

Results
Overview of the results

Table 1.  Get Full Table Overview of the association between significant copy number variation of 77 arm-level events and 8 molecular subtypes. Shown in the table are P values (Q values). Thresholded by P value < 0.05 and Q value < 0.25, one significant finding detected.

Clinical
Features
CN
CNMF
METHLYATION
CNMF
MRNASEQ
CNMF
MRNASEQ
CHIERARCHICAL
MIRSEQ
CNMF
MIRSEQ
CHIERARCHICAL
MIRSEQ
MATURE
CNMF
MIRSEQ
MATURE
CHIERARCHICAL
nCNV (%) nWild-Type 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
4q loss 33 (59%) 23 0.186
(1.00)
0.0185
(1.00)
0.00495
(1.00)
0.0398
(1.00)
0.00015
(0.0924)
0.248
(1.00)
0.0198
(1.00)
0.136
(1.00)
1p gain 24 (43%) 32 0.202
(1.00)
0.752
(1.00)
0.819
(1.00)
0.903
(1.00)
0.525
(1.00)
0.279
(1.00)
0.608
(1.00)
0.564
(1.00)
1q gain 31 (55%) 25 0.442
(1.00)
0.767
(1.00)
0.763
(1.00)
0.621
(1.00)
0.707
(1.00)
0.455
(1.00)
0.884
(1.00)
0.817
(1.00)
2p gain 23 (41%) 33 0.889
(1.00)
0.00746
(1.00)
0.0191
(1.00)
0.0566
(1.00)
0.497
(1.00)
0.071
(1.00)
0.102
(1.00)
0.134
(1.00)
2q gain 21 (38%) 35 0.371
(1.00)
0.0188
(1.00)
0.0123
(1.00)
0.113
(1.00)
0.623
(1.00)
0.0489
(1.00)
0.197
(1.00)
0.113
(1.00)
3p gain 12 (21%) 44 0.213
(1.00)
0.26
(1.00)
0.436
(1.00)
0.2
(1.00)
0.859
(1.00)
0.267
(1.00)
0.455
(1.00)
0.552
(1.00)
3q gain 23 (41%) 33 0.0997
(1.00)
0.0494
(1.00)
0.195
(1.00)
0.121
(1.00)
0.493
(1.00)
0.192
(1.00)
0.0743
(1.00)
0.22
(1.00)
4p gain 9 (16%) 47 0.733
(1.00)
0.7
(1.00)
0.822
(1.00)
0.866
(1.00)
0.777
(1.00)
0.327
(1.00)
0.264
(1.00)
0.371
(1.00)
4q gain 3 (5%) 53 1
(1.00)
0.258
(1.00)
0.511
(1.00)
0.794
(1.00)
0.674
(1.00)
0.568
(1.00)
0.598
(1.00)
0.697
(1.00)
5p gain 23 (41%) 33 0.0438
(1.00)
0.376
(1.00)
0.453
(1.00)
0.245
(1.00)
0.741
(1.00)
0.0285
(1.00)
0.595
(1.00)
0.151
(1.00)
5q gain 8 (14%) 48 0.507
(1.00)
0.566
(1.00)
0.307
(1.00)
0.248
(1.00)
0.0794
(1.00)
0.154
(1.00)
0.129
(1.00)
0.191
(1.00)
6p gain 30 (54%) 26 0.195
(1.00)
0.522
(1.00)
0.601
(1.00)
0.413
(1.00)
1
(1.00)
0.472
(1.00)
0.737
(1.00)
0.325
(1.00)
6q gain 27 (48%) 29 0.21
(1.00)
0.207
(1.00)
0.223
(1.00)
0.166
(1.00)
1
(1.00)
0.188
(1.00)
0.651
(1.00)
0.136
(1.00)
7p gain 21 (38%) 35 0.2
(1.00)
0.554
(1.00)
0.15
(1.00)
0.28
(1.00)
0.592
(1.00)
0.128
(1.00)
0.33
(1.00)
0.121
(1.00)
7q gain 17 (30%) 39 0.585
(1.00)
0.839
(1.00)
0.341
(1.00)
0.812
(1.00)
0.743
(1.00)
0.165
(1.00)
1
(1.00)
0.155
(1.00)
8p gain 19 (34%) 37 0.187
(1.00)
0.744
(1.00)
0.442
(1.00)
0.875
(1.00)
0.971
(1.00)
0.561
(1.00)
0.663
(1.00)
0.596
(1.00)
8q gain 30 (54%) 26 0.0139
(1.00)
0.199
(1.00)
0.0502
(1.00)
0.506
(1.00)
0.216
(1.00)
0.327
(1.00)
0.0671
(1.00)
0.122
(1.00)
9p gain 6 (11%) 50 0.352
(1.00)
0.705
(1.00)
0.936
(1.00)
0.666
(1.00)
0.831
(1.00)
0.805
(1.00)
0.86
(1.00)
1
(1.00)
10p gain 21 (38%) 35 0.328
(1.00)
0.0209
(1.00)
0.0396
(1.00)
0.119
(1.00)
0.324
(1.00)
0.107
(1.00)
0.676
(1.00)
0.198
(1.00)
10q gain 17 (30%) 39 0.874
(1.00)
0.339
(1.00)
0.554
(1.00)
0.048
(1.00)
0.222
(1.00)
0.184
(1.00)
0.381
(1.00)
0.0729
(1.00)
11p gain 5 (9%) 51 0.722
(1.00)
0.446
(1.00)
0.265
(1.00)
0.852
(1.00)
0.494
(1.00)
0.118
(1.00)
0.522
(1.00)
0.0928
(1.00)
11q gain 7 (12%) 49 0.684
(1.00)
0.385
(1.00)
0.229
(1.00)
0.384
(1.00)
0.755
(1.00)
0.0351
(1.00)
0.576
(1.00)
0.0302
(1.00)
12p gain 22 (39%) 34 0.265
(1.00)
0.00378
(1.00)
0.374
(1.00)
0.0424
(1.00)
0.81
(1.00)
0.976
(1.00)
0.531
(1.00)
0.626
(1.00)
12q gain 11 (20%) 45 0.538
(1.00)
0.535
(1.00)
0.808
(1.00)
0.523
(1.00)
1
(1.00)
0.296
(1.00)
0.91
(1.00)
0.273
(1.00)
13q gain 15 (27%) 41 0.646
(1.00)
0.0707
(1.00)
0.0218
(1.00)
0.024
(1.00)
0.222
(1.00)
0.0456
(1.00)
0.0104
(1.00)
0.14
(1.00)
14q gain 7 (12%) 49 0.609
(1.00)
0.576
(1.00)
0.259
(1.00)
0.258
(1.00)
0.209
(1.00)
0.733
(1.00)
0.226
(1.00)
0.475
(1.00)
15q gain 4 (7%) 52 0.189
(1.00)
0.256
(1.00)
0.577
(1.00)
0.324
(1.00)
0.757
(1.00)
0.348
(1.00)
0.423
(1.00)
0.359
(1.00)
16p gain 10 (18%) 46 0.111
(1.00)
0.279
(1.00)
0.197
(1.00)
0.276
(1.00)
1
(1.00)
0.483
(1.00)
0.904
(1.00)
0.405
(1.00)
16q gain 6 (11%) 50 0.171
(1.00)
0.849
(1.00)
0.545
(1.00)
0.968
(1.00)
0.771
(1.00)
0.925
(1.00)
0.478
(1.00)
0.868
(1.00)
17p gain 9 (16%) 47 0.385
(1.00)
0.898
(1.00)
0.567
(1.00)
0.562
(1.00)
0.286
(1.00)
0.0587
(1.00)
0.128
(1.00)
0.173
(1.00)
17q gain 18 (32%) 38 0.426
(1.00)
0.269
(1.00)
0.701
(1.00)
0.515
(1.00)
0.396
(1.00)
0.301
(1.00)
0.759
(1.00)
0.433
(1.00)
18p gain 18 (32%) 38 0.676
(1.00)
0.0496
(1.00)
0.0938
(1.00)
0.344
(1.00)
0.147
(1.00)
0.2
(1.00)
0.409
(1.00)
0.433
(1.00)
18q gain 14 (25%) 42 0.687
(1.00)
0.0814
(1.00)
0.152
(1.00)
0.24
(1.00)
0.203
(1.00)
0.0875
(1.00)
0.14
(1.00)
0.169
(1.00)
19p gain 24 (43%) 32 0.116
(1.00)
0.178
(1.00)
0.271
(1.00)
0.369
(1.00)
0.533
(1.00)
0.229
(1.00)
0.419
(1.00)
0.511
(1.00)
19q gain 28 (50%) 28 0.125
(1.00)
0.076
(1.00)
0.378
(1.00)
0.397
(1.00)
0.929
(1.00)
0.899
(1.00)
0.885
(1.00)
0.938
(1.00)
20p gain 37 (66%) 19 0.288
(1.00)
0.504
(1.00)
0.923
(1.00)
0.761
(1.00)
0.874
(1.00)
0.698
(1.00)
0.223
(1.00)
0.471
(1.00)
20q gain 44 (79%) 12 0.0528
(1.00)
0.917
(1.00)
0.968
(1.00)
0.997
(1.00)
0.588
(1.00)
0.576
(1.00)
0.214
(1.00)
0.679
(1.00)
21q gain 18 (32%) 38 0.0741
(1.00)
0.378
(1.00)
0.902
(1.00)
0.892
(1.00)
0.915
(1.00)
0.573
(1.00)
1
(1.00)
0.949
(1.00)
22q gain 8 (14%) 48 0.712
(1.00)
0.959
(1.00)
0.803
(1.00)
0.925
(1.00)
0.888
(1.00)
0.942
(1.00)
1
(1.00)
1
(1.00)
xq gain 14 (25%) 42 0.861
(1.00)
0.425
(1.00)
0.881
(1.00)
0.822
(1.00)
0.961
(1.00)
0.581
(1.00)
1
(1.00)
0.238
(1.00)
1p loss 9 (16%) 47 0.595
(1.00)
0.604
(1.00)
0.921
(1.00)
0.119
(1.00)
0.111
(1.00)
0.0308
(1.00)
0.0547
(1.00)
0.0475
(1.00)
1q loss 9 (16%) 47 0.482
(1.00)
0.516
(1.00)
0.515
(1.00)
0.0785
(1.00)
0.422
(1.00)
0.155
(1.00)
0.212
(1.00)
0.143
(1.00)
3p loss 20 (36%) 36 0.0106
(1.00)
0.423
(1.00)
0.05
(1.00)
0.229
(1.00)
0.375
(1.00)
0.928
(1.00)
0.418
(1.00)
0.433
(1.00)
3q loss 14 (25%) 42 0.14
(1.00)
0.46
(1.00)
0.137
(1.00)
0.606
(1.00)
0.529
(1.00)
0.88
(1.00)
0.381
(1.00)
1
(1.00)
4p loss 31 (55%) 25 0.0654
(1.00)
0.0624
(1.00)
0.257
(1.00)
0.203
(1.00)
0.038
(1.00)
0.711
(1.00)
0.146
(1.00)
0.447
(1.00)
5p loss 9 (16%) 47 0.9
(1.00)
0.475
(1.00)
0.885
(1.00)
0.137
(1.00)
1
(1.00)
0.299
(1.00)
1
(1.00)
0.416
(1.00)
5q loss 18 (32%) 38 0.767
(1.00)
0.303
(1.00)
0.265
(1.00)
0.235
(1.00)
0.36
(1.00)
0.948
(1.00)
0.357
(1.00)
0.947
(1.00)
6p loss 5 (9%) 51 0.424
(1.00)
0.956
(1.00)
0.756
(1.00)
0.957
(1.00)
0.542
(1.00)
0.911
(1.00)
1
(1.00)
1
(1.00)
6q loss 7 (12%) 49 0.0641
(1.00)
0.7
(1.00)
0.64
(1.00)
0.901
(1.00)
0.705
(1.00)
0.619
(1.00)
0.671
(1.00)
0.614
(1.00)
7p loss 13 (23%) 43 1
(1.00)
0.666
(1.00)
0.738
(1.00)
0.503
(1.00)
0.315
(1.00)
0.452
(1.00)
0.779
(1.00)
0.601
(1.00)
7q loss 13 (23%) 43 0.12
(1.00)
0.854
(1.00)
0.922
(1.00)
0.825
(1.00)
0.717
(1.00)
0.222
(1.00)
1
(1.00)
0.531
(1.00)
8p loss 23 (41%) 33 0.287
(1.00)
0.981
(1.00)
0.826
(1.00)
0.744
(1.00)
0.687
(1.00)
0.512
(1.00)
0.606
(1.00)
0.578
(1.00)
8q loss 9 (16%) 47 1
(1.00)
0.758
(1.00)
0.295
(1.00)
0.714
(1.00)
0.951
(1.00)
0.757
(1.00)
0.26
(1.00)
0.666
(1.00)
9p loss 34 (61%) 22 0.297
(1.00)
0.00736
(1.00)
0.674
(1.00)
0.135
(1.00)
0.863
(1.00)
0.29
(1.00)
1
(1.00)
0.0594
(1.00)
9q loss 39 (70%) 17 0.192
(1.00)
0.00152
(0.933)
0.494
(1.00)
0.0378
(1.00)
0.666
(1.00)
0.119
(1.00)
1
(1.00)
0.156
(1.00)
10p loss 23 (41%) 33 0.622
(1.00)
0.0127
(1.00)
0.0288
(1.00)
0.183
(1.00)
0.247
(1.00)
0.789
(1.00)
0.881
(1.00)
0.895
(1.00)
10q loss 21 (38%) 35 0.888
(1.00)
0.3
(1.00)
0.177
(1.00)
0.171
(1.00)
0.125
(1.00)
0.472
(1.00)
0.398
(1.00)
0.741
(1.00)
11p loss 26 (46%) 30 1
(1.00)
0.00377
(1.00)
0.377
(1.00)
0.517
(1.00)
0.269
(1.00)
0.577
(1.00)
0.509
(1.00)
0.359
(1.00)
11q loss 24 (43%) 32 0.625
(1.00)
0.00769
(1.00)
0.806
(1.00)
0.895
(1.00)
0.295
(1.00)
0.592
(1.00)
0.221
(1.00)
0.184
(1.00)
12p loss 13 (23%) 43 0.304
(1.00)
0.275
(1.00)
0.579
(1.00)
0.733
(1.00)
0.546
(1.00)
0.582
(1.00)
1
(1.00)
0.216
(1.00)
12q loss 14 (25%) 42 0.429
(1.00)
0.88
(1.00)
0.821
(1.00)
0.917
(1.00)
0.964
(1.00)
0.907
(1.00)
0.921
(1.00)
0.605
(1.00)
13q loss 26 (46%) 30 0.418
(1.00)
0.00115
(0.707)
0.056
(1.00)
0.0279
(1.00)
0.352
(1.00)
0.123
(1.00)
0.0397
(1.00)
0.197
(1.00)
14q loss 27 (48%) 29 0.943
(1.00)
0.0926
(1.00)
0.122
(1.00)
0.123
(1.00)
0.617
(1.00)
0.897
(1.00)
0.94
(1.00)
0.936
(1.00)
15q loss 32 (57%) 24 0.00608
(1.00)
0.712
(1.00)
0.929
(1.00)
0.981
(1.00)
0.93
(1.00)
0.978
(1.00)
1
(1.00)
0.896
(1.00)
16p loss 32 (57%) 24 0.241
(1.00)
0.493
(1.00)
0.343
(1.00)
0.0999
(1.00)
0.811
(1.00)
0.912
(1.00)
0.47
(1.00)
0.893
(1.00)
16q loss 37 (66%) 19 0.777
(1.00)
0.793
(1.00)
0.447
(1.00)
0.091
(1.00)
0.683
(1.00)
0.923
(1.00)
0.139
(1.00)
0.856
(1.00)
17p loss 34 (61%) 22 0.549
(1.00)
0.286
(1.00)
0.981
(1.00)
0.757
(1.00)
0.804
(1.00)
0.89
(1.00)
0.236
(1.00)
0.89
(1.00)
17q loss 17 (30%) 39 0.163
(1.00)
0.36
(1.00)
0.714
(1.00)
0.381
(1.00)
0.967
(1.00)
0.212
(1.00)
0.932
(1.00)
0.277
(1.00)
18p loss 18 (32%) 38 0.0323
(1.00)
0.0169
(1.00)
0.0556
(1.00)
0.0916
(1.00)
0.066
(1.00)
0.0784
(1.00)
0.0606
(1.00)
0.0469
(1.00)
18q loss 20 (36%) 36 0.119
(1.00)
0.0703
(1.00)
0.183
(1.00)
0.119
(1.00)
0.0124
(1.00)
0.00577
(1.00)
0.00594
(1.00)
0.00227
(1.00)
19p loss 15 (27%) 41 0.561
(1.00)
0.461
(1.00)
0.203
(1.00)
0.357
(1.00)
0.351
(1.00)
0.715
(1.00)
0.213
(1.00)
0.704
(1.00)
19q loss 13 (23%) 43 0.732
(1.00)
0.153
(1.00)
0.946
(1.00)
0.615
(1.00)
0.23
(1.00)
0.872
(1.00)
0.237
(1.00)
1
(1.00)
20p loss 7 (12%) 49 0.536
(1.00)
0.205
(1.00)
0.0838
(1.00)
0.0732
(1.00)
0.618
(1.00)
0.693
(1.00)
0.578
(1.00)
0.693
(1.00)
20q loss 4 (7%) 52 0.372
(1.00)
0.604
(1.00)
0.117
(1.00)
0.473
(1.00)
1
(1.00)
0.886
(1.00)
0.67
(1.00)
0.789
(1.00)
21q loss 17 (30%) 39 0.67
(1.00)
0.179
(1.00)
0.635
(1.00)
0.746
(1.00)
0.679
(1.00)
0.972
(1.00)
0.932
(1.00)
0.943
(1.00)
22q loss 33 (59%) 23 0.177
(1.00)
0.971
(1.00)
0.963
(1.00)
0.902
(1.00)
0.707
(1.00)
0.29
(1.00)
0.467
(1.00)
0.759
(1.00)
xq loss 19 (34%) 37 0.778
(1.00)
0.328
(1.00)
0.324
(1.00)
0.874
(1.00)
0.528
(1.00)
0.972
(1.00)
0.583
(1.00)
0.926
(1.00)
'4q loss' versus 'MIRSEQ_CNMF'

P value = 0.00015 (Fisher's exact test), Q value = 0.092

Table S1.  Gene #45: '4q loss' versus Molecular Subtype #5: 'MIRSEQ_CNMF'

nPatients CLUS_1 CLUS_2 CLUS_3 CLUS_4
ALL 10 22 4 19
4Q LOSS MUTATED 10 16 0 7
4Q LOSS WILD-TYPE 0 6 4 12

Figure S1.  Get High-res Image Gene #45: '4q loss' versus Molecular Subtype #5: 'MIRSEQ_CNMF'

Methods & Data
Input
  • Copy number data file = transformed.cor.cli.txt

  • Molecular subtypes file = UCS-TP.transferedmergedcluster.txt

  • Number of patients = 56

  • Number of significantly arm-level cnvs = 77

  • Number of molecular subtypes = 8

  • Exclude genes that fewer than K tumors have mutations, K = 3

Fisher's exact test

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

Q value calculation

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.

Download Results

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.

References
[1] Fisher, R.A., On the interpretation of chi-square from contingency tables, and the calculation of P, Journal of the Royal Statistical Society 85(1):87-94 (1922)
[2] Benjamini and Hochberg, Controlling the false discovery rate: a practical and powerful approach to multiple testing, Journal of the Royal Statistical Society Series B 59:289-300 (1995)