Correlation between gene mutation status and selected clinical features
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.

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)