Skin Cutaneous Melanoma: Correlation between gene mutation status and selected clinical features
(BRAF_Hotspot_Mutants 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 98 genes and 8 clinical features across 65 patients, no significant finding detected with Q value < 0.25.

  • No gene mutations related to clinical features.

Results
Overview of the results

Table 1.  Get Full Table Overview of the association between mutation status of 98 genes and 8 clinical features. Shown in the table are P values (Q values). Thresholded by Q value < 0.25, no significant finding detected.

Clinical
Features
Time
to
Death
AGE PRIMARY
SITE
OF
DISEASE
GENDER DISTANT
METASTASIS
LYMPH
NODE
METASTASIS
TUMOR
STAGECODE
NEOPLASM
DISEASESTAGE
nMutated (%) nWild-Type logrank test t-test Fisher's exact test Fisher's exact test Chi-square test Chi-square test t-test Chi-square test
CDKN2A 8 (12%) 57 0.434
(1.00)
0.287
(1.00)
0.739
(1.00)
0.259
(1.00)
0.947
(1.00)
0.827
(1.00)
0.484
(1.00)
PTEN 8 (12%) 57 0.539
(1.00)
0.437
(1.00)
0.386
(1.00)
0.42
(1.00)
0.135
(1.00)
0.936
(1.00)
0.0978
(1.00)
OR4K1 7 (11%) 58 0.548
(1.00)
0.731
(1.00)
0.0733
(1.00)
1
(1.00)
0.961
(1.00)
0.656
(1.00)
0.352
(1.00)
RPTN 11 (17%) 54 0.475
(1.00)
0.957
(1.00)
0.0748
(1.00)
1
(1.00)
0.892
(1.00)
0.582
(1.00)
0.0912
(1.00)
TP53 7 (11%) 58 0.136
(1.00)
0.287
(1.00)
0.119
(1.00)
0.672
(1.00)
0.308
(1.00)
0.575
(1.00)
0.328
(1.00)
ACSM2B 13 (20%) 52 0.676
(1.00)
0.348
(1.00)
0.231
(1.00)
0.0463
(1.00)
0.869
(1.00)
0.531
(1.00)
0.422
(1.00)
C7ORF58 8 (12%) 57 0.667
(1.00)
0.421
(1.00)
1
(1.00)
1
(1.00)
0.0917
(1.00)
0.816
(1.00)
0.289
(1.00)
GFRAL 7 (11%) 58 0.295
(1.00)
0.265
(1.00)
0.413
(1.00)
0.947
(1.00)
0.683
(1.00)
0.682
(1.00)
LILRA1 10 (15%) 55 0.104
(1.00)
0.422
(1.00)
0.278
(1.00)
1
(1.00)
0.912
(1.00)
0.37
(1.00)
0.576
(1.00)
DSG3 12 (18%) 53 0.471
(1.00)
0.622
(1.00)
0.493
(1.00)
1
(1.00)
0.134
(1.00)
0.66
(1.00)
0.289
(1.00)
PRAMEF11 4 (6%) 61 0.0813
(1.00)
1
(1.00)
0.296
(1.00)
0.983
(1.00)
0.000614
(0.396)
0.483
(1.00)
RFX6 10 (15%) 55 0.561
(1.00)
0.224
(1.00)
0.472
(1.00)
0.715
(1.00)
0.221
(1.00)
0.942
(1.00)
0.614
(1.00)
SLC4A10 10 (15%) 55 0.918
(1.00)
0.241
(1.00)
0.472
(1.00)
0.271
(1.00)
0.66
(1.00)
0.645
(1.00)
0.702
(1.00)
SERPINB4 6 (9%) 59 0.566
(1.00)
0.761
(1.00)
0.659
(1.00)
0.166
(1.00)
0.0532
(1.00)
0.253
(1.00)
0.605
(1.00)
NBPF1 10 (15%) 55 0.615
(1.00)
0.602
(1.00)
0.68
(1.00)
0.479
(1.00)
0.931
(1.00)
0.587
(1.00)
0.612
(1.00)
NELL1 11 (17%) 54 0.33
(1.00)
0.00124
(0.792)
0.796
(1.00)
0.0878
(1.00)
0.221
(1.00)
0.281
(1.00)
0.587
(1.00)
OR4C15 7 (11%) 58 0.65
(1.00)
0.172
(1.00)
0.0106
(1.00)
0.672
(1.00)
0.947
(1.00)
0.759
(1.00)
0.808
(1.00)
CDR1 6 (9%) 59 0.0957
(1.00)
0.144
(1.00)
0.242
(1.00)
0.379
(1.00)
0.0239
(1.00)
0.98
(1.00)
0.988
(1.00)
GK2 8 (12%) 57 0.558
(1.00)
0.201
(1.00)
0.16
(1.00)
0.706
(1.00)
0.947
(1.00)
0.819
(1.00)
0.172
(1.00)
OR5D13 5 (8%) 60 0.722
(1.00)
0.26
(1.00)
1
(1.00)
1
(1.00)
0.973
(1.00)
0.000664
(0.427)
0.299
(1.00)
ZNF215 7 (11%) 58 0.393
(1.00)
0.211
(1.00)
0.839
(1.00)
0.672
(1.00)
0.523
(1.00)
0.972
(1.00)
0.947
(1.00)
MORF4 6 (9%) 59 0.455
(1.00)
0.0716
(1.00)
0.0825
(1.00)
0.379
(1.00)
0.99
(1.00)
0.9
(1.00)
0.892
(1.00)
PRSS1 4 (6%) 61 0.0922
(1.00)
0.49
(1.00)
0.296
(1.00)
0.99
(1.00)
0.962
(1.00)
0.634
(1.00)
TRHR 7 (11%) 58 0.534
(1.00)
0.11
(1.00)
0.00667
(1.00)
1
(1.00)
0.0114
(1.00)
0.77
(1.00)
0.667
(1.00)
RGS21 5 (8%) 60 0.575
(1.00)
0.597
(1.00)
1
(1.00)
0.308
(1.00)
0.809
(1.00)
0.716
(1.00)
FUT9 5 (8%) 60 0.253
(1.00)
0.175
(1.00)
1
(1.00)
0.973
(1.00)
0.938
(1.00)
0.00508
(1.00)
CCDC102B 9 (14%) 56 0.365
(1.00)
0.631
(1.00)
0.0615
(1.00)
0.455
(1.00)
0.912
(1.00)
0.396
(1.00)
0.421
(1.00)
ST6GAL2 7 (11%) 58 0.587
(1.00)
0.425
(1.00)
0.567
(1.00)
0.413
(1.00)
0.961
(1.00)
0.294
(1.00)
0.124
(1.00)
OR11L1 5 (8%) 60 0.279
(1.00)
0.207
(1.00)
0.0975
(1.00)
0.655
(1.00)
0.973
(1.00)
0.381
(1.00)
0.279
(1.00)
GIMAP4 3 (5%) 62 0.993
(1.00)
0.15
(1.00)
0.545
(1.00)
0.99
(1.00)
0.946
(1.00)
0.913
(1.00)
ICA1L 3 (5%) 62 0.395
(1.00)
1
(1.00)
0.545
(1.00)
CADM2 7 (11%) 58 0.446
(1.00)
0.521
(1.00)
0.474
(1.00)
0.413
(1.00)
0.947
(1.00)
0.816
(1.00)
0.353
(1.00)
GUCA1C 3 (5%) 62 0.415
(1.00)
0.368
(1.00)
1
(1.00)
C15ORF23 4 (6%) 61 0.287
(1.00)
0.731
(1.00)
1
(1.00)
0.983
(1.00)
0.954
(1.00)
0.895
(1.00)
HTR3B 5 (8%) 60 0.0774
(1.00)
0.764
(1.00)
0.763
(1.00)
1
(1.00)
0.973
(1.00)
0.909
(1.00)
0.385
(1.00)
RGPD4 13 (20%) 52 0.16
(1.00)
0.993
(1.00)
0.281
(1.00)
0.194
(1.00)
0.845
(1.00)
0.925
(1.00)
0.767
(1.00)
PENK 5 (8%) 60 0.123
(1.00)
0.415
(1.00)
0.0755
(1.00)
1
(1.00)
0.973
(1.00)
0.947
(1.00)
0.801
(1.00)
RBM11 4 (6%) 61 0.882
(1.00)
0.355
(1.00)
0.589
(1.00)
0.181
(1.00)
0.725
(1.00)
0.289
(1.00)
WBSCR17 11 (17%) 54 0.787
(1.00)
0.299
(1.00)
1
(1.00)
0.0119
(1.00)
0.0316
(1.00)
0.57
(1.00)
0.619
(1.00)
MORC1 12 (18%) 53 0.452
(1.00)
0.197
(1.00)
0.292
(1.00)
0.0845
(1.00)
0.892
(1.00)
0.977
(1.00)
0.275
(1.00)
FAM83A 3 (5%) 62 0.302
(1.00)
1
(1.00)
0.545
(1.00)
0.000753
(0.484)
0.868
(1.00)
SPANXN2 5 (8%) 60 0.616
(1.00)
0.37
(1.00)
1
(1.00)
1
(1.00)
0.973
(1.00)
0.0861
(1.00)
0.00749
(1.00)
OR2M3 9 (14%) 56 0.0271
(1.00)
0.00399
(1.00)
0.0615
(1.00)
1
(1.00)
0.6
(1.00)
0.775
(1.00)
0.551
(1.00)
TLL1 14 (22%) 51 0.0894
(1.00)
0.995
(1.00)
0.0677
(1.00)
1
(1.00)
0.791
(1.00)
0.406
(1.00)
0.0803
(1.00)
ZNF331 5 (8%) 60 0.853
(1.00)
0.689
(1.00)
0.0975
(1.00)
1
(1.00)
0.0239
(1.00)
0.953
(1.00)
0.853
(1.00)
OR2L3 6 (9%) 59 0.714
(1.00)
0.0692
(1.00)
1
(1.00)
0.0239
(1.00)
0.955
(1.00)
0.34
(1.00)
NCR1 5 (8%) 60 0.42
(1.00)
0.0357
(1.00)
0.0975
(1.00)
0.655
(1.00)
0.983
(1.00)
0.905
(1.00)
0.582
(1.00)
PPP6C 5 (8%) 60 0.654
(1.00)
0.343
(1.00)
1
(1.00)
0.308
(1.00)
0.777
(1.00)
0.573
(1.00)
UGT2B15 7 (11%) 58 0.456
(1.00)
0.229
(1.00)
0.223
(1.00)
0.413
(1.00)
0.425
(1.00)
0.923
(1.00)
0.176
(1.00)
DISP1 8 (12%) 57 0.21
(1.00)
0.0391
(1.00)
0.739
(1.00)
0.706
(1.00)
0.983
(1.00)
0.905
(1.00)
0.717
(1.00)
ADAM18 13 (20%) 52 0.425
(1.00)
0.84
(1.00)
0.347
(1.00)
0.522
(1.00)
0.845
(1.00)
0.906
(1.00)
0.678
(1.00)
ZNF160 6 (9%) 59 0.679
(1.00)
0.707
(1.00)
0.415
(1.00)
0.655
(1.00)
0.961
(1.00)
0.0102
(1.00)
0.00325
(1.00)
MAEL 4 (6%) 61 0.242
(1.00)
0.0175
(1.00)
1
(1.00)
0.983
(1.00)
0.725
(1.00)
0.441
(1.00)
NRK 7 (11%) 58 0.783
(1.00)
0.726
(1.00)
0.265
(1.00)
0.672
(1.00)
0.961
(1.00)
0.874
(1.00)
0.698
(1.00)
ADAM32 8 (12%) 57 0.374
(1.00)
0.617
(1.00)
0.259
(1.00)
0.947
(1.00)
0.683
(1.00)
0.54
(1.00)
SNTG1 6 (9%) 59 0.758
(1.00)
0.24
(1.00)
0.0447
(1.00)
1
(1.00)
0.961
(1.00)
0.656
(1.00)
0.0137
(1.00)
NDST4 9 (14%) 56 0.727
(1.00)
0.414
(1.00)
0.255
(1.00)
0.0259
(1.00)
0.931
(1.00)
0.558
(1.00)
0.428
(1.00)
B2M 3 (5%) 62 0.937
(1.00)
1
(1.00)
0.545
(1.00)
RGPD3 8 (12%) 57 0.732
(1.00)
0.0659
(1.00)
0.21
(1.00)
0.259
(1.00)
0.931
(1.00)
0.519
(1.00)
0.236
(1.00)
WDR12 6 (9%) 59 0.882
(1.00)
0.679
(1.00)
0.659
(1.00)
0.655
(1.00)
0.983
(1.00)
0.417
(1.00)
0.966
(1.00)
PCDP1 6 (9%) 59 0.623
(1.00)
0.819
(1.00)
0.415
(1.00)
1
(1.00)
0.961
(1.00)
0.923
(1.00)
0.192
(1.00)
ZNF679 4 (6%) 61 0.203
(1.00)
0.288
(1.00)
0.0722
(1.00)
0.589
(1.00)
0.983
(1.00)
0.176
(1.00)
0.0714
(1.00)
NAP1L2 5 (8%) 60 0.724
(1.00)
0.99
(1.00)
0.0755
(1.00)
0.655
(1.00)
0.973
(1.00)
0.575
(1.00)
0.583
(1.00)
OR4A16 5 (8%) 60 0.487
(1.00)
0.65
(1.00)
0.12
(1.00)
1
(1.00)
0.00299
(1.00)
0.587
(1.00)
0.0267
(1.00)
PDE1A 9 (14%) 56 0.532
(1.00)
0.0928
(1.00)
0.0891
(1.00)
0.455
(1.00)
0.931
(1.00)
0.265
(1.00)
0.266
(1.00)
GABRE 7 (11%) 58 0.454
(1.00)
0.242
(1.00)
0.0507
(1.00)
0.2
(1.00)
0.947
(1.00)
0.618
(1.00)
0.256
(1.00)
PRC1 5 (8%) 60 0.268
(1.00)
0.188
(1.00)
1
(1.00)
0.166
(1.00)
0.983
(1.00)
0.905
(1.00)
0.814
(1.00)
KLHL4 4 (6%) 61 0.122
(1.00)
0.379
(1.00)
1
(1.00)
0.589
(1.00)
0.99
(1.00)
0.97
(1.00)
0.269
(1.00)
BAZ2B 8 (12%) 57 0.28
(1.00)
0.522
(1.00)
0.0941
(1.00)
0.42
(1.00)
0.523
(1.00)
0.149
(1.00)
0.188
(1.00)
CYP4Z1 5 (8%) 60 0.987
(1.00)
0.343
(1.00)
0.655
(1.00)
0.0239
(1.00)
0.119
(1.00)
0.269
(1.00)
C1ORF168 10 (15%) 55 0.154
(1.00)
0.661
(1.00)
0.189
(1.00)
0.715
(1.00)
0.912
(1.00)
0.919
(1.00)
0.0848
(1.00)
FAM65C 7 (11%) 58 0.321
(1.00)
0.179
(1.00)
0.119
(1.00)
1
(1.00)
0.961
(1.00)
0.984
(1.00)
0.303
(1.00)
NOTCH2NL 5 (8%) 60 0.203
(1.00)
1
(1.00)
0.166
(1.00)
0.983
(1.00)
0.417
(1.00)
0.542
(1.00)
TRHDE 11 (17%) 54 0.0463
(1.00)
0.0871
(1.00)
0.259
(1.00)
1
(1.00)
0.705
(1.00)
0.48
(1.00)
0.639
(1.00)
USP17L2 6 (9%) 59 0.486
(1.00)
0.862
(1.00)
0.015
(1.00)
1
(1.00)
0.961
(1.00)
0.955
(1.00)
0.722
(1.00)
RXFP2 7 (11%) 58 0.111
(1.00)
0.541
(1.00)
0.697
(1.00)
1
(1.00)
0.973
(1.00)
0.507
(1.00)
0.273
(1.00)
TAF1A 3 (5%) 62 0.769
(1.00)
1
(1.00)
1
(1.00)
0.000753
(0.484)
0.494
(1.00)
ANO4 10 (15%) 55 0.105
(1.00)
0.44
(1.00)
0.168
(1.00)
0.479
(1.00)
0.912
(1.00)
0.594
(1.00)
0.814
(1.00)
MNDA 7 (11%) 58 0.372
(1.00)
0.0125
(1.00)
0.0507
(1.00)
0.413
(1.00)
0.961
(1.00)
0.955
(1.00)
0.356
(1.00)
ADAM7 10 (15%) 55 0.105
(1.00)
0.101
(1.00)
0.0775
(1.00)
1
(1.00)
0.705
(1.00)
0.568
(1.00)
0.715
(1.00)
FOLH1B 4 (6%) 61 0.893
(1.00)
0.377
(1.00)
0.731
(1.00)
1
(1.00)
0.983
(1.00)
0.417
(1.00)
0.479
(1.00)
C10ORF71 8 (12%) 57 0.674
(1.00)
0.468
(1.00)
0.509
(1.00)
0.0463
(1.00)
0.961
(1.00)
0.615
(1.00)
0.436
(1.00)
CXCR2 3 (5%) 62 0.783
(1.00)
0.226
(1.00)
1
(1.00)
0.99
(1.00)
0.451
(1.00)
0.248
(1.00)
OR4E2 5 (8%) 60 0.933
(1.00)
0.354
(1.00)
0.175
(1.00)
1
(1.00)
0.308
(1.00)
0.947
(1.00)
0.458
(1.00)
POTEG 6 (9%) 59 0.887
(1.00)
0.0765
(1.00)
0.0447
(1.00)
0.655
(1.00)
0.0239
(1.00)
0.712
(1.00)
0.901
(1.00)
TCEB3C 7 (11%) 58 0.931
(1.00)
0.34
(1.00)
0.697
(1.00)
0.413
(1.00)
0.947
(1.00)
0.0322
(1.00)
0.324
(1.00)
TCP10L2 3 (5%) 62 0.382
(1.00)
0.652
(1.00)
1
(1.00)
BAGE2 4 (6%) 61 0.861
(1.00)
0.0946
(1.00)
0.589
(1.00)
0.181
(1.00)
0.168
(1.00)
0.265
(1.00)
CLEC14A 5 (8%) 60 0.852
(1.00)
0.958
(1.00)
0.225
(1.00)
0.655
(1.00)
0.983
(1.00)
0.129
(1.00)
0.388
(1.00)
SLC6A13 7 (11%) 58 0.0727
(1.00)
0.621
(1.00)
0.0141
(1.00)
0.2
(1.00)
0.425
(1.00)
0.656
(1.00)
0.127
(1.00)
BCLAF1 10 (15%) 55 0.0915
(1.00)
0.132
(1.00)
0.168
(1.00)
0.479
(1.00)
0.135
(1.00)
0.709
(1.00)
0.808
(1.00)
UPF2 8 (12%) 57 0.25
(1.00)
0.394
(1.00)
0.866
(1.00)
0.42
(1.00)
0.961
(1.00)
0.656
(1.00)
0.657
(1.00)
GPR141 6 (9%) 59 0.759
(1.00)
0.203
(1.00)
1
(1.00)
0.655
(1.00)
0.961
(1.00)
0.904
(1.00)
0.675
(1.00)
ZNF334 4 (6%) 61 0.44
(1.00)
0.245
(1.00)
1
(1.00)
HAPLN1 4 (6%) 61 0.159
(1.00)
1
(1.00)
1
(1.00)
0.00677
(1.00)
0.961
(1.00)
0.301
(1.00)
MUM1L1 7 (11%) 58 0.412
(1.00)
0.671
(1.00)
1
(1.00)
1
(1.00)
0.947
(1.00)
0.972
(1.00)
0.604
(1.00)
ST18 7 (11%) 58 0.706
(1.00)
0.787
(1.00)
1
(1.00)
0.672
(1.00)
0.973
(1.00)
0.507
(1.00)
0.725
(1.00)
OR5H15 5 (8%) 60 0.104
(1.00)
0.471
(1.00)
1
(1.00)
0.166
(1.00)
0.973
(1.00)
0.381
(1.00)
0.215
(1.00)
Methods & Data
Input
  • Mutation data file = SKCM-BRAF_Hotspot_Mutants.mutsig.cluster.txt

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

  • Number of patients = 65

  • Number of significantly mutated genes = 98

  • Number of selected clinical features = 8

  • 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)