Correlation between copy number variations of arm-level result and molecular subtypes
Uterine Carcinosarcoma (Primary solid tumor)
15 July 2014  |  analyses__2014_07_15
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/C10K27CH
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 0.0656
(1.00)
0.0176
(1.00)
0.00516
(1.00)
0.0387
(1.00)
0.0002
(0.123)
0.249
(1.00)
0.0184
(1.00)
0.105
(1.00)
1p gain 24 (43%) 32 0.0485
(1.00)
0.754
(1.00)
0.817
(1.00)
0.902
(1.00)
0.523
(1.00)
0.281
(1.00)
0.613
(1.00)
0.719
(1.00)
1q gain 31 (55%) 25 0.332
(1.00)
0.766
(1.00)
0.763
(1.00)
0.621
(1.00)
0.703
(1.00)
0.462
(1.00)
0.977
(1.00)
0.322
(1.00)
2p gain 23 (41%) 33 0.726
(1.00)
0.00784
(1.00)
0.0186
(1.00)
0.0578
(1.00)
0.492
(1.00)
0.0724
(1.00)
0.295
(1.00)
0.159
(1.00)
2q gain 21 (38%) 35 0.667
(1.00)
0.0183
(1.00)
0.012
(1.00)
0.113
(1.00)
0.622
(1.00)
0.0486
(1.00)
0.37
(1.00)
0.172
(1.00)
3p gain 12 (21%) 44 0.388
(1.00)
0.263
(1.00)
0.437
(1.00)
0.2
(1.00)
0.861
(1.00)
0.265
(1.00)
0.96
(1.00)
0.639
(1.00)
3q gain 23 (41%) 33 0.221
(1.00)
0.0486
(1.00)
0.194
(1.00)
0.121
(1.00)
0.496
(1.00)
0.188
(1.00)
0.514
(1.00)
0.182
(1.00)
4p gain 9 (16%) 47 1
(1.00)
0.703
(1.00)
0.824
(1.00)
0.865
(1.00)
0.775
(1.00)
0.326
(1.00)
0.822
(1.00)
0.486
(1.00)
4q gain 3 (5%) 53 0.581
(1.00)
0.258
(1.00)
0.514
(1.00)
0.792
(1.00)
0.676
(1.00)
0.569
(1.00)
0.687
(1.00)
0.595
(1.00)
5p gain 23 (41%) 33 0.396
(1.00)
0.378
(1.00)
0.451
(1.00)
0.242
(1.00)
0.741
(1.00)
0.028
(1.00)
0.912
(1.00)
0.12
(1.00)
5q gain 8 (14%) 48 0.78
(1.00)
0.565
(1.00)
0.308
(1.00)
0.248
(1.00)
0.0792
(1.00)
0.154
(1.00)
0.239
(1.00)
0.164
(1.00)
6p gain 30 (54%) 26 0.334
(1.00)
0.522
(1.00)
0.601
(1.00)
0.416
(1.00)
1
(1.00)
0.474
(1.00)
0.938
(1.00)
0.32
(1.00)
6q gain 27 (48%) 29 0.366
(1.00)
0.209
(1.00)
0.22
(1.00)
0.163
(1.00)
1
(1.00)
0.19
(1.00)
0.842
(1.00)
0.196
(1.00)
7p gain 21 (38%) 35 0.548
(1.00)
0.558
(1.00)
0.154
(1.00)
0.28
(1.00)
0.59
(1.00)
0.128
(1.00)
0.354
(1.00)
0.367
(1.00)
7q gain 17 (30%) 39 0.465
(1.00)
0.841
(1.00)
0.34
(1.00)
0.808
(1.00)
0.743
(1.00)
0.166
(1.00)
0.59
(1.00)
0.47
(1.00)
8p gain 19 (34%) 37 0.0127
(1.00)
0.743
(1.00)
0.442
(1.00)
0.873
(1.00)
0.971
(1.00)
0.556
(1.00)
0.835
(1.00)
0.341
(1.00)
8q gain 30 (54%) 26 0.00509
(1.00)
0.196
(1.00)
0.0491
(1.00)
0.505
(1.00)
0.218
(1.00)
0.326
(1.00)
0.215
(1.00)
0.453
(1.00)
9p gain 6 (11%) 50 0.466
(1.00)
0.703
(1.00)
0.936
(1.00)
0.665
(1.00)
0.833
(1.00)
0.804
(1.00)
0.8
(1.00)
0.668
(1.00)
10p gain 21 (38%) 35 0.935
(1.00)
0.0198
(1.00)
0.0404
(1.00)
0.118
(1.00)
0.326
(1.00)
0.106
(1.00)
0.516
(1.00)
0.438
(1.00)
10q gain 17 (30%) 39 1
(1.00)
0.339
(1.00)
0.553
(1.00)
0.0475
(1.00)
0.223
(1.00)
0.181
(1.00)
0.42
(1.00)
0.263
(1.00)
11p gain 5 (9%) 51 0.483
(1.00)
0.441
(1.00)
0.265
(1.00)
0.85
(1.00)
0.495
(1.00)
0.119
(1.00)
0.354
(1.00)
0.352
(1.00)
11q gain 7 (12%) 49 0.17
(1.00)
0.386
(1.00)
0.227
(1.00)
0.379
(1.00)
0.752
(1.00)
0.0352
(1.00)
0.726
(1.00)
0.098
(1.00)
12p gain 22 (39%) 34 0.478
(1.00)
0.00457
(1.00)
0.372
(1.00)
0.042
(1.00)
0.812
(1.00)
0.977
(1.00)
0.806
(1.00)
0.716
(1.00)
12q gain 11 (20%) 45 0.553
(1.00)
0.533
(1.00)
0.807
(1.00)
0.522
(1.00)
1
(1.00)
0.295
(1.00)
0.53
(1.00)
0.632
(1.00)
13q gain 15 (27%) 41 0.669
(1.00)
0.0712
(1.00)
0.0212
(1.00)
0.0236
(1.00)
0.223
(1.00)
0.046
(1.00)
0.0655
(1.00)
0.192
(1.00)
14q gain 7 (12%) 49 0.366
(1.00)
0.575
(1.00)
0.259
(1.00)
0.26
(1.00)
0.206
(1.00)
0.733
(1.00)
0.213
(1.00)
0.457
(1.00)
15q gain 4 (7%) 52 0.386
(1.00)
0.256
(1.00)
0.579
(1.00)
0.325
(1.00)
0.757
(1.00)
0.348
(1.00)
0.529
(1.00)
0.413
(1.00)
16p gain 10 (18%) 46 0.0397
(1.00)
0.279
(1.00)
0.195
(1.00)
0.278
(1.00)
1
(1.00)
0.482
(1.00)
0.718
(1.00)
0.531
(1.00)
16q gain 6 (11%) 50 0.267
(1.00)
0.849
(1.00)
0.548
(1.00)
0.968
(1.00)
0.77
(1.00)
0.926
(1.00)
0.916
(1.00)
0.91
(1.00)
17p gain 9 (16%) 47 0.216
(1.00)
0.895
(1.00)
0.568
(1.00)
0.561
(1.00)
0.284
(1.00)
0.06
(1.00)
0.271
(1.00)
0.331
(1.00)
17q gain 18 (32%) 38 0.93
(1.00)
0.272
(1.00)
0.701
(1.00)
0.516
(1.00)
0.392
(1.00)
0.304
(1.00)
0.731
(1.00)
0.421
(1.00)
18p gain 18 (32%) 38 1
(1.00)
0.0495
(1.00)
0.0927
(1.00)
0.343
(1.00)
0.146
(1.00)
0.198
(1.00)
0.422
(1.00)
0.654
(1.00)
18q gain 14 (25%) 42 0.659
(1.00)
0.0806
(1.00)
0.153
(1.00)
0.241
(1.00)
0.203
(1.00)
0.0882
(1.00)
0.211
(1.00)
0.449
(1.00)
19p gain 24 (43%) 32 0.523
(1.00)
0.177
(1.00)
0.268
(1.00)
0.371
(1.00)
0.537
(1.00)
0.23
(1.00)
0.422
(1.00)
0.746
(1.00)
19q gain 28 (50%) 28 0.385
(1.00)
0.0771
(1.00)
0.377
(1.00)
0.396
(1.00)
0.929
(1.00)
0.899
(1.00)
0.578
(1.00)
1
(1.00)
20p gain 37 (66%) 19 0.933
(1.00)
0.504
(1.00)
0.922
(1.00)
0.761
(1.00)
0.878
(1.00)
0.695
(1.00)
0.863
(1.00)
0.824
(1.00)
20q gain 44 (79%) 12 0.52
(1.00)
0.918
(1.00)
0.969
(1.00)
0.996
(1.00)
0.586
(1.00)
0.575
(1.00)
0.43
(1.00)
0.739
(1.00)
21q gain 18 (32%) 38 0.232
(1.00)
0.377
(1.00)
0.9
(1.00)
0.892
(1.00)
0.915
(1.00)
0.574
(1.00)
1
(1.00)
0.969
(1.00)
22q gain 8 (14%) 48 0.535
(1.00)
0.96
(1.00)
0.802
(1.00)
0.926
(1.00)
0.885
(1.00)
0.943
(1.00)
0.852
(1.00)
0.989
(1.00)
xq gain 14 (25%) 42 0.922
(1.00)
0.425
(1.00)
0.879
(1.00)
0.824
(1.00)
0.961
(1.00)
0.582
(1.00)
1
(1.00)
0.785
(1.00)
1p loss 9 (16%) 47 0.052
(1.00)
0.6
(1.00)
0.921
(1.00)
0.12
(1.00)
0.11
(1.00)
0.0301
(1.00)
0.127
(1.00)
0.0176
(1.00)
1q loss 9 (16%) 47 0.0232
(1.00)
0.515
(1.00)
0.517
(1.00)
0.0799
(1.00)
0.42
(1.00)
0.154
(1.00)
0.385
(1.00)
0.0308
(1.00)
3p loss 20 (36%) 36 0.0711
(1.00)
0.423
(1.00)
0.0495
(1.00)
0.229
(1.00)
0.374
(1.00)
0.928
(1.00)
0.6
(1.00)
0.406
(1.00)
3q loss 14 (25%) 42 0.56
(1.00)
0.46
(1.00)
0.138
(1.00)
0.604
(1.00)
0.526
(1.00)
0.881
(1.00)
0.655
(1.00)
0.075
(1.00)
4p loss 31 (55%) 25 0.0586
(1.00)
0.0625
(1.00)
0.258
(1.00)
0.202
(1.00)
0.0372
(1.00)
0.714
(1.00)
0.287
(1.00)
0.386
(1.00)
5p loss 9 (16%) 47 0.713
(1.00)
0.475
(1.00)
0.884
(1.00)
0.135
(1.00)
1
(1.00)
0.3
(1.00)
1
(1.00)
0.0452
(1.00)
5q loss 18 (32%) 38 0.929
(1.00)
0.304
(1.00)
0.267
(1.00)
0.232
(1.00)
0.362
(1.00)
0.948
(1.00)
0.147
(1.00)
0.841
(1.00)
6p loss 5 (9%) 51 0.316
(1.00)
0.956
(1.00)
0.755
(1.00)
0.956
(1.00)
0.543
(1.00)
0.912
(1.00)
0.743
(1.00)
0.615
(1.00)
6q loss 7 (12%) 49 0.019
(1.00)
0.696
(1.00)
0.641
(1.00)
0.901
(1.00)
0.704
(1.00)
0.617
(1.00)
0.726
(1.00)
0.449
(1.00)
7p loss 13 (23%) 43 0.412
(1.00)
0.666
(1.00)
0.734
(1.00)
0.501
(1.00)
0.314
(1.00)
0.455
(1.00)
0.481
(1.00)
0.761
(1.00)
7q loss 13 (23%) 43 0.0861
(1.00)
0.854
(1.00)
0.921
(1.00)
0.823
(1.00)
0.711
(1.00)
0.223
(1.00)
0.639
(1.00)
0.77
(1.00)
8p loss 23 (41%) 33 0.0327
(1.00)
0.982
(1.00)
0.827
(1.00)
0.746
(1.00)
0.688
(1.00)
0.514
(1.00)
0.839
(1.00)
0.854
(1.00)
8q loss 9 (16%) 47 0.185
(1.00)
0.76
(1.00)
0.297
(1.00)
0.714
(1.00)
0.949
(1.00)
0.757
(1.00)
1
(1.00)
0.856
(1.00)
9p loss 34 (61%) 22 0.036
(1.00)
0.00791
(1.00)
0.673
(1.00)
0.137
(1.00)
0.864
(1.00)
0.291
(1.00)
0.869
(1.00)
0.117
(1.00)
9q loss 39 (70%) 17 0.0615
(1.00)
0.0014
(0.86)
0.494
(1.00)
0.0384
(1.00)
0.664
(1.00)
0.117
(1.00)
0.918
(1.00)
0.382
(1.00)
10p loss 23 (41%) 33 0.827
(1.00)
0.0137
(1.00)
0.0287
(1.00)
0.185
(1.00)
0.244
(1.00)
0.788
(1.00)
0.444
(1.00)
0.855
(1.00)
10q loss 21 (38%) 35 1
(1.00)
0.298
(1.00)
0.177
(1.00)
0.172
(1.00)
0.125
(1.00)
0.473
(1.00)
0.205
(1.00)
0.847
(1.00)
11p loss 26 (46%) 30 0.881
(1.00)
0.00375
(1.00)
0.379
(1.00)
0.518
(1.00)
0.27
(1.00)
0.58
(1.00)
0.238
(1.00)
0.229
(1.00)
11q loss 24 (43%) 32 0.774
(1.00)
0.00808
(1.00)
0.805
(1.00)
0.896
(1.00)
0.295
(1.00)
0.59
(1.00)
0.416
(1.00)
0.375
(1.00)
12p loss 13 (23%) 43 0.193
(1.00)
0.277
(1.00)
0.581
(1.00)
0.732
(1.00)
0.547
(1.00)
0.582
(1.00)
0.275
(1.00)
0.491
(1.00)
12q loss 14 (25%) 42 0.519
(1.00)
0.88
(1.00)
0.82
(1.00)
0.917
(1.00)
0.963
(1.00)
0.908
(1.00)
0.45
(1.00)
0.959
(1.00)
13q loss 26 (46%) 30 0.779
(1.00)
0.00113
(0.695)
0.058
(1.00)
0.0276
(1.00)
0.353
(1.00)
0.121
(1.00)
0.26
(1.00)
0.248
(1.00)
14q loss 27 (48%) 29 1
(1.00)
0.092
(1.00)
0.123
(1.00)
0.124
(1.00)
0.618
(1.00)
0.899
(1.00)
0.631
(1.00)
0.947
(1.00)
15q loss 32 (57%) 24 0.00528
(1.00)
0.711
(1.00)
0.931
(1.00)
0.981
(1.00)
0.931
(1.00)
0.978
(1.00)
0.892
(1.00)
0.81
(1.00)
16p loss 32 (57%) 24 0.404
(1.00)
0.494
(1.00)
0.345
(1.00)
0.1
(1.00)
0.81
(1.00)
0.914
(1.00)
0.894
(1.00)
0.925
(1.00)
16q loss 37 (66%) 19 0.32
(1.00)
0.794
(1.00)
0.45
(1.00)
0.0894
(1.00)
0.686
(1.00)
0.922
(1.00)
0.379
(1.00)
0.915
(1.00)
17p loss 34 (61%) 22 0.402
(1.00)
0.286
(1.00)
0.981
(1.00)
0.757
(1.00)
0.806
(1.00)
0.891
(1.00)
0.414
(1.00)
0.784
(1.00)
17q loss 17 (30%) 39 0.928
(1.00)
0.357
(1.00)
0.713
(1.00)
0.384
(1.00)
0.968
(1.00)
0.213
(1.00)
0.793
(1.00)
0.622
(1.00)
18p loss 18 (32%) 38 0.602
(1.00)
0.0169
(1.00)
0.0553
(1.00)
0.0906
(1.00)
0.0673
(1.00)
0.0799
(1.00)
0.326
(1.00)
0.305
(1.00)
18q loss 20 (36%) 36 0.215
(1.00)
0.0707
(1.00)
0.186
(1.00)
0.119
(1.00)
0.012
(1.00)
0.0054
(1.00)
0.063
(1.00)
0.0309
(1.00)
19p loss 15 (27%) 41 0.926
(1.00)
0.466
(1.00)
0.204
(1.00)
0.356
(1.00)
0.35
(1.00)
0.718
(1.00)
0.715
(1.00)
0.362
(1.00)
19q loss 13 (23%) 43 1
(1.00)
0.152
(1.00)
0.945
(1.00)
0.616
(1.00)
0.228
(1.00)
0.872
(1.00)
0.692
(1.00)
0.35
(1.00)
20p loss 7 (12%) 49 0.427
(1.00)
0.207
(1.00)
0.0829
(1.00)
0.0751
(1.00)
0.619
(1.00)
0.693
(1.00)
0.727
(1.00)
0.758
(1.00)
20q loss 4 (7%) 52 1
(1.00)
0.602
(1.00)
0.118
(1.00)
0.471
(1.00)
1
(1.00)
0.885
(1.00)
1
(1.00)
0.854
(1.00)
21q loss 17 (30%) 39 0.861
(1.00)
0.178
(1.00)
0.633
(1.00)
0.748
(1.00)
0.683
(1.00)
0.972
(1.00)
1
(1.00)
0.946
(1.00)
22q loss 33 (59%) 23 0.825
(1.00)
0.969
(1.00)
0.962
(1.00)
0.901
(1.00)
0.707
(1.00)
0.29
(1.00)
0.639
(1.00)
0.616
(1.00)
xq loss 19 (34%) 37 0.457
(1.00)
0.325
(1.00)
0.323
(1.00)
0.873
(1.00)
0.53
(1.00)
0.973
(1.00)
0.548
(1.00)
0.626
(1.00)
'4q loss' versus 'MIRSEQ_CNMF'

P value = 2e-04 (Fisher's exact test), Q value = 0.12

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)