Skin Cutaneous Melanoma: Correlation between gene mutation status and selected clinical features
(metastatic tumor cohort)
Maintained by TCGA GDAC Team (Broad Institute/MD Anderson Cancer Center/Harvard Medical School)
Overview
Introduction

This pipeline computes the correlation between significantly recurrent gene mutations and selected clinical features.

Summary

Testing the association between mutation status of 125 genes and 7 clinical features across 146 patients, 3 significant findings detected with Q value < 0.25.

  • PTEN mutation correlated to 'DISTANT.METASTASIS'.

  • MUC7 mutation correlated to 'AGE'.

  • HAPLN1 mutation correlated to 'DISTANT.METASTASIS'.

Results
Overview of the results

Table 1.  Get Full Table Overview of the association between mutation status of 125 genes and 7 clinical features. Shown in the table are P values (Q values). Thresholded by Q value < 0.25, 3 significant findings detected.

Clinical
Features
Time
to
Death
AGE GENDER DISTANT
METASTASIS
LYMPH
NODE
METASTASIS
TUMOR
STAGECODE
NEOPLASM
DISEASESTAGE
nMutated (%) nWild-Type logrank test t-test Fisher's exact test Chi-square test Chi-square test t-test Chi-square test
PTEN 11 (8%) 135 0.999
(1.00)
0.601
(1.00)
0.34
(1.00)
0.00018
(0.133)
0.72
(1.00)
0.0185
(1.00)
MUC7 11 (8%) 135 0.466
(1.00)
0.000185
(0.136)
0.529
(1.00)
0.965
(1.00)
0.795
(1.00)
0.668
(1.00)
HAPLN1 7 (5%) 139 0.259
(1.00)
0.178
(1.00)
0.705
(1.00)
0.000316
(0.233)
0.93
(1.00)
0.196
(1.00)
TP53 25 (17%) 121 0.489
(1.00)
0.0816
(1.00)
1
(1.00)
0.651
(1.00)
0.295
(1.00)
0.315
(1.00)
BRAF 73 (50%) 73 0.195
(1.00)
0.0472
(1.00)
1
(1.00)
0.389
(1.00)
0.684
(1.00)
0.852
(1.00)
C15ORF23 10 (7%) 136 0.452
(1.00)
0.672
(1.00)
0.741
(1.00)
0.977
(1.00)
0.69
(1.00)
0.426
(1.00)
CDKN2A 22 (15%) 124 0.713
(1.00)
0.654
(1.00)
1
(1.00)
0.898
(1.00)
0.474
(1.00)
0.729
(1.00)
NRAS 45 (31%) 101 0.73
(1.00)
0.196
(1.00)
0.857
(1.00)
0.575
(1.00)
0.928
(1.00)
0.291
(1.00)
OXA1L 4 (3%) 142 0.885
(1.00)
0.793
(1.00)
0.644
(1.00)
0.995
(1.00)
0.738
(1.00)
0.501
(1.00)
STK19 9 (6%) 137 0.332
(1.00)
0.516
(1.00)
0.313
(1.00)
0.981
(1.00)
0.854
(1.00)
0.913
(1.00)
RAC1 11 (8%) 135 0.048
(1.00)
0.497
(1.00)
1
(1.00)
0.977
(1.00)
0.916
(1.00)
0.384
(1.00)
ACSM2B 28 (19%) 118 0.164
(1.00)
0.968
(1.00)
0.00251
(1.00)
0.827
(1.00)
0.574
(1.00)
0.665
(1.00)
CADM2 16 (11%) 130 0.717
(1.00)
0.736
(1.00)
1
(1.00)
0.927
(1.00)
0.358
(1.00)
0.337
(1.00)
OR51S1 16 (11%) 130 0.445
(1.00)
0.495
(1.00)
1
(1.00)
0.944
(1.00)
0.465
(1.00)
0.16
(1.00)
LCE1B 10 (7%) 136 0.392
(1.00)
0.684
(1.00)
0.513
(1.00)
0.977
(1.00)
0.351
(1.00)
0.637
(1.00)
IDH1 7 (5%) 139 0.799
(1.00)
0.0104
(1.00)
0.432
(1.00)
0.986
(1.00)
0.923
(1.00)
0.544
(1.00)
TAF1A 8 (5%) 138 0.291
(1.00)
0.622
(1.00)
0.712
(1.00)
0.00355
(1.00)
0.932
(1.00)
0.864
(1.00)
NAP1L2 14 (10%) 132 0.362
(1.00)
0.077
(1.00)
0.4
(1.00)
0.951
(1.00)
0.604
(1.00)
0.447
(1.00)
PPP6C 14 (10%) 132 0.0327
(1.00)
0.578
(1.00)
1
(1.00)
0.404
(1.00)
0.135
(1.00)
0.474
(1.00)
FRG2B 10 (7%) 136 0.525
(1.00)
0.0205
(1.00)
0.513
(1.00)
0.971
(1.00)
0.852
(1.00)
0.599
(1.00)
USP29 25 (17%) 121 0.0527
(1.00)
0.0751
(1.00)
0.264
(1.00)
0.876
(1.00)
0.677
(1.00)
0.412
(1.00)
PRB4 16 (11%) 130 0.125
(1.00)
0.234
(1.00)
0.284
(1.00)
0.449
(1.00)
0.759
(1.00)
0.907
(1.00)
HIST1H2AA 7 (5%) 139 0.88
(1.00)
0.961
(1.00)
1
(1.00)
0.986
(1.00)
0.932
(1.00)
0.718
(1.00)
RPTN 23 (16%) 123 0.639
(1.00)
0.337
(1.00)
0.816
(1.00)
0.898
(1.00)
0.482
(1.00)
0.171
(1.00)
ZNF479 13 (9%) 133 0.307
(1.00)
0.175
(1.00)
0.569
(1.00)
0.355
(1.00)
0.692
(1.00)
0.782
(1.00)
C8A 19 (13%) 127 0.0477
(1.00)
0.0291
(1.00)
0.129
(1.00)
0.0637
(1.00)
0.747
(1.00)
0.576
(1.00)
FUT9 16 (11%) 130 0.986
(1.00)
0.0241
(1.00)
1
(1.00)
0.936
(1.00)
0.76
(1.00)
0.589
(1.00)
ZNF679 15 (10%) 131 0.696
(1.00)
0.412
(1.00)
0.783
(1.00)
0.944
(1.00)
0.713
(1.00)
0.487
(1.00)
NRK 18 (12%) 128 0.364
(1.00)
0.741
(1.00)
0.797
(1.00)
0.927
(1.00)
0.709
(1.00)
0.622
(1.00)
CDH9 26 (18%) 120 0.431
(1.00)
0.427
(1.00)
1
(1.00)
0.827
(1.00)
0.434
(1.00)
0.0723
(1.00)
PRAMEF11 13 (9%) 133 0.108
(1.00)
0.143
(1.00)
0.569
(1.00)
0.959
(1.00)
0.238
(1.00)
0.738
(1.00)
DDX3X 15 (10%) 131 0.584
(1.00)
0.416
(1.00)
0.162
(1.00)
0.000441
(0.324)
0.939
(1.00)
0.744
(1.00)
GRXCR1 15 (10%) 131 0.592
(1.00)
0.0186
(1.00)
0.783
(1.00)
0.951
(1.00)
0.795
(1.00)
0.325
(1.00)
PRB2 21 (14%) 125 0.576
(1.00)
0.0107
(1.00)
0.0532
(1.00)
0.908
(1.00)
0.659
(1.00)
0.335
(1.00)
ELF5 4 (3%) 142 0.422
(1.00)
0.523
(1.00)
1
(1.00)
0.997
(1.00)
0.255
(1.00)
0.95
(1.00)
IL32 6 (4%) 140 0.0674
(1.00)
0.464
(1.00)
0.679
(1.00)
0.99
(1.00)
0.868
(1.00)
0.00533
(1.00)
LUZP2 13 (9%) 133 0.887
(1.00)
0.89
(1.00)
0.569
(1.00)
0.965
(1.00)
0.736
(1.00)
0.0149
(1.00)
PDE1A 23 (16%) 123 0.326
(1.00)
0.139
(1.00)
0.816
(1.00)
0.887
(1.00)
0.212
(1.00)
0.523
(1.00)
RBM11 10 (7%) 136 0.669
(1.00)
0.262
(1.00)
0.741
(1.00)
0.248
(1.00)
0.731
(1.00)
0.567
(1.00)
GLRB 16 (11%) 130 0.339
(1.00)
0.106
(1.00)
1
(1.00)
0.936
(1.00)
0.755
(1.00)
0.735
(1.00)
PRB1 12 (8%) 134 0.367
(1.00)
0.518
(1.00)
0.127
(1.00)
0.971
(1.00)
0.517
(1.00)
0.397
(1.00)
KIAA1257 7 (5%) 139 0.0934
(1.00)
0.0266
(1.00)
0.247
(1.00)
0.995
(1.00)
0.676
(1.00)
0.982
(1.00)
USP17L2 13 (9%) 133 0.668
(1.00)
0.991
(1.00)
0.251
(1.00)
0.959
(1.00)
0.86
(1.00)
0.239
(1.00)
SPAG16 13 (9%) 133 0.151
(1.00)
0.532
(1.00)
0.251
(1.00)
0.965
(1.00)
0.814
(1.00)
0.642
(1.00)
OR4M2 17 (12%) 129 0.851
(1.00)
0.0795
(1.00)
1
(1.00)
0.525
(1.00)
0.965
(1.00)
0.316
(1.00)
GFRAL 20 (14%) 126 0.506
(1.00)
0.594
(1.00)
0.807
(1.00)
0.927
(1.00)
0.481
(1.00)
0.539
(1.00)
UNC119B 3 (2%) 143 0.873
(1.00)
0.379
(1.00)
1
(1.00)
0.997
(1.00)
0.984
(1.00)
0.638
(1.00)
PHGDH 5 (3%) 141 0.7
(1.00)
0.991
(1.00)
0.157
(1.00)
0.997
(1.00)
0.984
(1.00)
STXBP5L 31 (21%) 115 0.102
(1.00)
0.63
(1.00)
0.684
(1.00)
0.814
(1.00)
0.963
(1.00)
0.435
(1.00)
TRAT1 10 (7%) 136 0.0153
(1.00)
0.667
(1.00)
0.513
(1.00)
0.977
(1.00)
0.741
(1.00)
0.793
(1.00)
ZNF844 4 (3%) 142 0.415
(1.00)
0.0191
(1.00)
0.644
(1.00)
0.995
(1.00)
0.465
(1.00)
0.8
(1.00)
TTN 114 (78%) 32 0.566
(1.00)
0.798
(1.00)
0.0695
(1.00)
0.225
(1.00)
0.155
(1.00)
0.145
(1.00)
DSG3 34 (23%) 112 0.565
(1.00)
0.11
(1.00)
0.425
(1.00)
0.244
(1.00)
0.642
(1.00)
0.376
(1.00)
GML 8 (5%) 138 0.967
(1.00)
0.108
(1.00)
0.15
(1.00)
0.986
(1.00)
0.543
(1.00)
0.944
(1.00)
HHLA2 9 (6%) 137 0.672
(1.00)
0.312
(1.00)
1
(1.00)
0.981
(1.00)
0.206
(1.00)
0.818
(1.00)
LILRB4 22 (15%) 124 0.419
(1.00)
0.456
(1.00)
0.818
(1.00)
0.188
(1.00)
0.686
(1.00)
0.246
(1.00)
SLC38A4 16 (11%) 130 0.748
(1.00)
0.312
(1.00)
0.104
(1.00)
0.944
(1.00)
0.874
(1.00)
0.955
(1.00)
OR2L3 12 (8%) 134 0.22
(1.00)
0.725
(1.00)
1
(1.00)
0.00776
(1.00)
0.834
(1.00)
0.394
(1.00)
HBD 8 (5%) 138 0.0901
(1.00)
0.604
(1.00)
0.712
(1.00)
0.981
(1.00)
0.817
(1.00)
0.273
(1.00)
TBC1D3B 3 (2%) 143 0.00283
(1.00)
0.398
(1.00)
1
(1.00)
TCEB3C 22 (15%) 124 0.395
(1.00)
0.218
(1.00)
0.102
(1.00)
0.876
(1.00)
0.418
(1.00)
0.411
(1.00)
CYLC2 16 (11%) 130 0.6
(1.00)
0.0886
(1.00)
0.594
(1.00)
0.951
(1.00)
0.0427
(1.00)
0.454
(1.00)
HBG2 6 (4%) 140 0.619
(1.00)
0.239
(1.00)
1
(1.00)
0.99
(1.00)
0.953
(1.00)
0.762
(1.00)
LOC649330 16 (11%) 130 0.312
(1.00)
0.0195
(1.00)
0.594
(1.00)
0.951
(1.00)
0.788
(1.00)
0.793
(1.00)
PARM1 11 (8%) 135 0.00945
(1.00)
0.197
(1.00)
1
(1.00)
0.977
(1.00)
0.0223
(1.00)
0.253
(1.00)
CCK 5 (3%) 141 0.124
(1.00)
0.706
(1.00)
0.649
(1.00)
0.995
(1.00)
0.00566
(1.00)
0.545
(1.00)
ZFP106 5 (3%) 141 0.808
(1.00)
0.00424
(1.00)
0.157
(1.00)
0.993
(1.00)
0.647
(1.00)
0.207
(1.00)
UGT2B15 14 (10%) 132 0.568
(1.00)
0.644
(1.00)
0.249
(1.00)
0.355
(1.00)
0.81
(1.00)
0.156
(1.00)
DSG1 22 (15%) 124 0.136
(1.00)
0.5
(1.00)
1
(1.00)
0.887
(1.00)
0.811
(1.00)
0.273
(1.00)
ARL16 4 (3%) 142 0.338
(1.00)
0.0797
(1.00)
1
(1.00)
0.995
(1.00)
0.738
(1.00)
0.297
(1.00)
VEGFC 14 (10%) 132 0.938
(1.00)
0.811
(1.00)
0.4
(1.00)
0.959
(1.00)
0.0467
(1.00)
0.0989
(1.00)
PSG4 15 (10%) 131 0.941
(1.00)
0.409
(1.00)
1
(1.00)
0.951
(1.00)
0.921
(1.00)
0.808
(1.00)
DEFB119 6 (4%) 140 0.0591
(1.00)
0.416
(1.00)
1
(1.00)
0.995
(1.00)
0.908
(1.00)
0.825
(1.00)
KLHL4 14 (10%) 132 0.138
(1.00)
0.727
(1.00)
0.4
(1.00)
0.965
(1.00)
0.785
(1.00)
0.657
(1.00)
EIF3D 3 (2%) 143 0.038
(1.00)
0.474
(1.00)
0.281
(1.00)
0.997
(1.00)
0.891
(1.00)
0.578
(1.00)
OR2W1 12 (8%) 134 0.7
(1.00)
0.0687
(1.00)
0.539
(1.00)
0.965
(1.00)
0.224
(1.00)
0.86
(1.00)
OR4N2 17 (12%) 129 0.856
(1.00)
0.336
(1.00)
0.0163
(1.00)
0.0637
(1.00)
0.937
(1.00)
0.749
(1.00)
CCDC11 13 (9%) 133 0.763
(1.00)
0.909
(1.00)
1
(1.00)
0.959
(1.00)
0.97
(1.00)
0.835
(1.00)
LIN7A 8 (5%) 138 0.437
(1.00)
0.703
(1.00)
0.483
(1.00)
0.99
(1.00)
0.93
(1.00)
0.567
(1.00)
RAPGEF5 6 (4%) 140 0.957
(1.00)
0.466
(1.00)
0.404
(1.00)
0.995
(1.00)
0.738
(1.00)
0.858
(1.00)
CD2 14 (10%) 132 0.564
(1.00)
0.323
(1.00)
0.779
(1.00)
0.011
(1.00)
0.838
(1.00)
0.397
(1.00)
C2ORF40 4 (3%) 142 0.748
(1.00)
0.392
(1.00)
0.644
(1.00)
0.997
(1.00)
0.943
(1.00)
SGCZ 16 (11%) 130 0.11
(1.00)
0.965
(1.00)
1
(1.00)
0.971
(1.00)
0.265
(1.00)
0.859
(1.00)
SPANXN2 13 (9%) 133 0.0115
(1.00)
0.794
(1.00)
0.767
(1.00)
0.971
(1.00)
0.205
(1.00)
0.394
(1.00)
TLL1 31 (21%) 115 0.282
(1.00)
0.205
(1.00)
0.415
(1.00)
0.729
(1.00)
0.34
(1.00)
0.205
(1.00)
C9ORF119 5 (3%) 141 0.924
(1.00)
0.968
(1.00)
0.157
(1.00)
0.993
(1.00)
0.0348
(1.00)
0.706
(1.00)
CCDC54 10 (7%) 136 0.452
(1.00)
0.653
(1.00)
0.316
(1.00)
0.981
(1.00)
0.965
(1.00)
0.82
(1.00)
DEFB118 6 (4%) 140 0.135
(1.00)
0.462
(1.00)
1
(1.00)
0.99
(1.00)
0.965
(1.00)
0.634
(1.00)
HTR3B 10 (7%) 136 0.0313
(1.00)
0.745
(1.00)
0.316
(1.00)
0.977
(1.00)
0.878
(1.00)
0.693
(1.00)
MARCH11 7 (5%) 139 0.321
(1.00)
0.997
(1.00)
0.705
(1.00)
0.0875
(1.00)
0.932
(1.00)
0.469
(1.00)
MKX 10 (7%) 136 0.469
(1.00)
0.798
(1.00)
0.741
(1.00)
0.986
(1.00)
0.932
(1.00)
0.0133
(1.00)
OR5H2 11 (8%) 135 0.406
(1.00)
0.0271
(1.00)
0.751
(1.00)
0.965
(1.00)
0.318
(1.00)
0.423
(1.00)
SIGLEC14 6 (4%) 140 0.898
(1.00)
0.154
(1.00)
0.0817
(1.00)
0.993
(1.00)
0.945
(1.00)
0.153
(1.00)
TUBB8 7 (5%) 139 0.881
(1.00)
0.22
(1.00)
0.705
(1.00)
0.993
(1.00)
0.964
(1.00)
0.696
(1.00)
ZIM3 12 (8%) 134 0.0439
(1.00)
0.916
(1.00)
0.368
(1.00)
0.971
(1.00)
0.626
(1.00)
0.521
(1.00)
PRC1 7 (5%) 139 0.982
(1.00)
0.907
(1.00)
0.705
(1.00)
0.99
(1.00)
0.913
(1.00)
0.842
(1.00)
MUM1L1 15 (10%) 131 0.485
(1.00)
0.775
(1.00)
1
(1.00)
0.936
(1.00)
0.547
(1.00)
0.681
(1.00)
TRIM58 12 (8%) 134 0.391
(1.00)
0.00222
(1.00)
0.766
(1.00)
0.965
(1.00)
0.739
(1.00)
0.826
(1.00)
ANKRD20A4 3 (2%) 143 0.571
(1.00)
0.865
(1.00)
0.281
(1.00)
0.997
(1.00)
0.943
(1.00)
0.623
(1.00)
OR5J2 10 (7%) 136 0.795
(1.00)
0.886
(1.00)
0.189
(1.00)
0.981
(1.00)
0.956
(1.00)
0.795
(1.00)
CLEC14A 14 (10%) 132 0.245
(1.00)
0.838
(1.00)
0.249
(1.00)
0.971
(1.00)
0.51
(1.00)
0.617
(1.00)
FAM19A1 7 (5%) 139 0.354
(1.00)
0.95
(1.00)
1
(1.00)
0.99
(1.00)
0.6
(1.00)
0.751
(1.00)
GK2 19 (13%) 127 0.39
(1.00)
0.984
(1.00)
0.804
(1.00)
0.918
(1.00)
0.503
(1.00)
0.0645
(1.00)
LONRF2 11 (8%) 135 0.035
(1.00)
0.909
(1.00)
1
(1.00)
0.986
(1.00)
0.191
(1.00)
0.673
(1.00)
NAP1L4 5 (3%) 141 0.613
(1.00)
0.369
(1.00)
0.379
(1.00)
0.993
(1.00)
0.27
(1.00)
0.693
(1.00)
CLCC1 7 (5%) 139 0.122
(1.00)
0.577
(1.00)
0.705
(1.00)
0.99
(1.00)
0.457
(1.00)
0.74
(1.00)
OR52J3 9 (6%) 137 0.0699
(1.00)
0.417
(1.00)
0.737
(1.00)
0.981
(1.00)
0.923
(1.00)
0.935
(1.00)
TMCO5A 6 (4%) 140 0.384
(1.00)
0.29
(1.00)
0.404
(1.00)
0.993
(1.00)
0.964
(1.00)
0.273
(1.00)
C4ORF22 8 (5%) 138 0.294
(1.00)
0.654
(1.00)
0.483
(1.00)
0.99
(1.00)
0.935
(1.00)
0.868
(1.00)
MAP2K1 6 (4%) 140 0.198
(1.00)
0.636
(1.00)
0.209
(1.00)
0.99
(1.00)
0.00585
(1.00)
0.915
(1.00)
OR7D2 13 (9%) 133 0.948
(1.00)
0.479
(1.00)
0.251
(1.00)
0.959
(1.00)
0.86
(1.00)
0.274
(1.00)
CXCR2 9 (6%) 137 0.181
(1.00)
0.341
(1.00)
0.737
(1.00)
0.981
(1.00)
0.841
(1.00)
0.272
(1.00)
RBM22 4 (3%) 142 0.579
(1.00)
0.319
(1.00)
0.156
(1.00)
0.995
(1.00)
0.964
(1.00)
0.784
(1.00)
CX3CL1 3 (2%) 143 0.495
(1.00)
0.946
(1.00)
1
(1.00)
IGF2BP3 3 (2%) 143 0.918
(1.00)
0.678
(1.00)
1
(1.00)
KLRC3 4 (3%) 142 0.532
(1.00)
0.692
(1.00)
0.644
(1.00)
0.995
(1.00)
0.169
(1.00)
0.828
(1.00)
LRRIQ4 14 (10%) 132 0.43
(1.00)
0.135
(1.00)
0.4
(1.00)
0.944
(1.00)
0.898
(1.00)
0.628
(1.00)
NR1H4 8 (5%) 138 0.362
(1.00)
0.315
(1.00)
0.483
(1.00)
0.986
(1.00)
0.195
(1.00)
0.513
(1.00)
OR4A15 14 (10%) 132 0.975
(1.00)
0.0416
(1.00)
0.0804
(1.00)
0.965
(1.00)
0.134
(1.00)
0.37
(1.00)
MAGEA4 7 (5%) 139 0.819
(1.00)
0.57
(1.00)
0.705
(1.00)
0.0468
(1.00)
0.853
(1.00)
0.642
(1.00)
DGAT2L6 8 (5%) 138 0.487
(1.00)
0.437
(1.00)
1
(1.00)
0.981
(1.00)
0.405
(1.00)
0.56
(1.00)
RGS18 7 (5%) 139 0.944
(1.00)
0.328
(1.00)
0.0428
(1.00)
0.99
(1.00)
0.853
(1.00)
0.763
(1.00)
TSGA13 6 (4%) 140 0.3
(1.00)
0.873
(1.00)
0.404
(1.00)
0.993
(1.00)
0.921
(1.00)
0.308
(1.00)
OPN5 5 (3%) 141 0.329
(1.00)
0.656
(1.00)
0.649
(1.00)
0.995
(1.00)
0.847
(1.00)
0.754
(1.00)
SPINK13 4 (3%) 142 0.191
(1.00)
0.326
(1.00)
1
(1.00)
0.995
(1.00)
0.359
(1.00)
0.956
(1.00)
'PTEN MUTATION STATUS' versus 'DISTANT.METASTASIS'

P value = 0.00018 (Chi-square test), Q value = 0.13

Table S1.  Gene #8: 'PTEN MUTATION STATUS' versus Clinical Feature #4: 'DISTANT.METASTASIS'

nPatients M0 M1 M1A M1B M1C
ALL 124 2 1 1 2
PTEN MUTATED 9 2 0 0 0
PTEN WILD-TYPE 115 0 1 1 2

Figure S1.  Get High-res Image Gene #8: 'PTEN MUTATION STATUS' versus Clinical Feature #4: 'DISTANT.METASTASIS'

'MUC7 MUTATION STATUS' versus 'AGE'

P value = 0.000185 (t-test), Q value = 0.14

Table S2.  Gene #17: 'MUC7 MUTATION STATUS' versus Clinical Feature #2: 'AGE'

nPatients Mean (Std.Dev)
ALL 144 56.1 (16.0)
MUC7 MUTATED 11 72.7 (10.9)
MUC7 WILD-TYPE 133 54.8 (15.6)

Figure S2.  Get High-res Image Gene #17: 'MUC7 MUTATION STATUS' versus Clinical Feature #2: 'AGE'

'HAPLN1 MUTATION STATUS' versus 'DISTANT.METASTASIS'

P value = 0.000316 (Chi-square test), Q value = 0.23

Table S3.  Gene #104: 'HAPLN1 MUTATION STATUS' versus Clinical Feature #4: 'DISTANT.METASTASIS'

nPatients M0 M1 M1A M1B M1C
ALL 124 2 1 1 2
HAPLN1 MUTATED 5 0 0 1 0
HAPLN1 WILD-TYPE 119 2 1 0 2

Figure S3.  Get High-res Image Gene #104: 'HAPLN1 MUTATION STATUS' versus Clinical Feature #4: 'DISTANT.METASTASIS'

Methods & Data
Input
  • Mutation data file = SKCM-TM.mutsig.cluster.txt

  • Clinical data file = SKCM-TM.clin.merged.picked.txt

  • Number of patients = 146

  • Number of significantly mutated genes = 125

  • Number of selected clinical features = 7

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

Survival analysis

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

Student's t-test analysis

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

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

Chi-square test

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

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

This is an experimental feature. The full results of the analysis summarized in this report can be downloaded from the TCGA Data Coordination Center.

References
[1] Bland and Altman, Statistics notes: The logrank test, BMJ 328(7447):1073 (2004)
[2] Lehmann and Romano, Testing Statistical Hypotheses (3E ed.), New York: Springer. ISBN 0387988645 (2005)
[3] 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)
[4] Greenwood and Nikulin, A guide to chi-squared testing, Wiley, New York. ISBN 047155779X (1996)
[5] 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)