This pipeline computes the correlation between significantly recurrent gene mutations and selected clinical features.
Testing the association between mutation status of 29 genes and 10 clinical features across 417 patients, 2 significant findings detected with Q value < 0.25.
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BAP1 mutation correlated to 'NEOPLASM.DISEASESTAGE' and 'PATHOLOGY.T.STAGE'.
Clinical Features |
Time to Death |
AGE |
NEOPLASM DISEASESTAGE |
PATHOLOGY T STAGE |
PATHOLOGY N STAGE |
PATHOLOGY M STAGE |
GENDER |
KARNOFSKY PERFORMANCE SCORE |
RACE | ETHNICITY | ||
nMutated (%) | nWild-Type | logrank test | Wilcoxon-test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Wilcoxon-test | Fisher's exact test | Fisher's exact test | |
BAP1 | 41 (10%) | 376 |
0.00214 (0.555) |
0.597 (1.00) |
0.00016 (0.0421) |
0.00023 (0.0603) |
0.672 (1.00) |
0.0116 (1.00) |
0.0016 (0.417) |
0.681 (1.00) |
1 (1.00) |
|
SETD2 | 44 (11%) | 373 |
0.173 (1.00) |
0.285 (1.00) |
0.182 (1.00) |
0.109 (1.00) |
0.617 (1.00) |
0.198 (1.00) |
0.181 (1.00) |
0.835 (1.00) |
0.707 (1.00) |
|
PTEN | 18 (4%) | 399 |
0.361 (1.00) |
0.807 (1.00) |
0.0479 (1.00) |
0.244 (1.00) |
0.11 (1.00) |
0.329 (1.00) |
0.129 (1.00) |
0.714 (1.00) |
0.621 (1.00) |
1 (1.00) |
PBRM1 | 136 (33%) | 281 |
0.442 (1.00) |
0.473 (1.00) |
0.947 (1.00) |
0.203 (1.00) |
0.515 (1.00) |
1 (1.00) |
0.23 (1.00) |
0.909 (1.00) |
0.242 (1.00) |
0.231 (1.00) |
KDM5C | 26 (6%) | 391 |
0.0511 (1.00) |
0.0881 (1.00) |
0.988 (1.00) |
0.972 (1.00) |
0.584 (1.00) |
1 (1.00) |
0.00224 (0.578) |
0.752 (1.00) |
0.377 (1.00) |
|
VHL | 166 (40%) | 251 |
0.744 (1.00) |
0.777 (1.00) |
0.11 (1.00) |
0.153 (1.00) |
1 (1.00) |
0.222 (1.00) |
0.463 (1.00) |
0.283 (1.00) |
0.116 (1.00) |
0.818 (1.00) |
FAM200A | 5 (1%) | 412 |
0.479 (1.00) |
0.733 (1.00) |
0.749 (1.00) |
0.577 (1.00) |
1 (1.00) |
1 (1.00) |
0.053 (1.00) |
1 (1.00) |
1 (1.00) |
|
TP53 | 9 (2%) | 408 |
0.00129 (0.336) |
0.332 (1.00) |
0.135 (1.00) |
0.0588 (1.00) |
1 (1.00) |
0.162 (1.00) |
0.726 (1.00) |
1 (1.00) |
1 (1.00) |
|
NEFH | 5 (1%) | 412 |
0.688 (1.00) |
0.522 (1.00) |
0.112 (1.00) |
0.18 (1.00) |
1 (1.00) |
0.585 (1.00) |
0.661 (1.00) |
1 (1.00) |
1 (1.00) |
|
CCDC120 | 4 (1%) | 413 |
0.129 (1.00) |
0.9 (1.00) |
0.0806 (1.00) |
0.0931 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
0.205 (1.00) |
|
MTOR | 23 (6%) | 394 |
0.118 (1.00) |
0.149 (1.00) |
0.269 (1.00) |
0.38 (1.00) |
0.172 (1.00) |
0.236 (1.00) |
0.378 (1.00) |
0.712 (1.00) |
1 (1.00) |
|
GUSB | 4 (1%) | 413 |
0.855 (1.00) |
0.0799 (1.00) |
0.205 (1.00) |
0.49 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
|
PIK3CA | 12 (3%) | 405 |
0.582 (1.00) |
0.898 (1.00) |
0.524 (1.00) |
0.542 (1.00) |
1 (1.00) |
1 (1.00) |
0.029 (1.00) |
1 (1.00) |
0.575 (1.00) |
|
PCK1 | 5 (1%) | 412 |
0.178 (1.00) |
0.322 (1.00) |
0.143 (1.00) |
0.252 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
|
ARID1A | 12 (3%) | 405 |
0.337 (1.00) |
0.343 (1.00) |
0.0854 (1.00) |
0.151 (1.00) |
1 (1.00) |
0.7 (1.00) |
0.122 (1.00) |
1 (1.00) |
0.162 (1.00) |
|
ATM | 11 (3%) | 406 |
0.785 (1.00) |
0.51 (1.00) |
0.15 (1.00) |
0.0472 (1.00) |
0.39 (1.00) |
0.692 (1.00) |
0.527 (1.00) |
1 (1.00) |
0.37 (1.00) |
|
DPCR1 | 6 (1%) | 411 |
0.41 (1.00) |
0.541 (1.00) |
0.101 (1.00) |
1 (1.00) |
1 (1.00) |
0.0553 (1.00) |
1 (1.00) |
0.27 (1.00) |
1 (1.00) |
|
FGFR3 | 4 (1%) | 413 |
0.94 (1.00) |
0.621 (1.00) |
0.284 (1.00) |
0.382 (1.00) |
0.0588 (1.00) |
1 (1.00) |
0.302 (1.00) |
1 (1.00) |
1 (1.00) |
|
PTCH1 | 7 (2%) | 410 |
0.0611 (1.00) |
0.272 (1.00) |
0.379 (1.00) |
0.082 (1.00) |
1 (1.00) |
1 (1.00) |
0.7 (1.00) |
1 (1.00) |
1 (1.00) |
|
RBMX | 4 (1%) | 413 |
0.732 (1.00) |
0.205 (1.00) |
1 (1.00) |
1 (1.00) |
0.114 (1.00) |
0.505 (1.00) |
0.302 (1.00) |
1 (1.00) |
1 (1.00) |
|
ARAP3 | 3 (1%) | 414 |
0.77 (1.00) |
0.521 (1.00) |
0.817 (1.00) |
0.729 (1.00) |
0.41 (1.00) |
0.281 (1.00) |
0.147 (1.00) |
1 (1.00) |
||
GPR172B | 4 (1%) | 413 |
0.558 (1.00) |
0.838 (1.00) |
0.881 (1.00) |
0.791 (1.00) |
0.167 (1.00) |
1 (1.00) |
0.126 (1.00) |
1 (1.00) |
0.0734 (1.00) |
|
EGFR | 7 (2%) | 410 |
0.0204 (1.00) |
0.554 (1.00) |
0.0189 (1.00) |
0.00536 (1.00) |
0.217 (1.00) |
0.313 (1.00) |
0.43 (1.00) |
1 (1.00) |
1 (1.00) |
|
IL1RAP | 4 (1%) | 413 |
0.0726 (1.00) |
0.0629 (1.00) |
0.533 (1.00) |
0.378 (1.00) |
1 (1.00) |
0.505 (1.00) |
1 (1.00) |
0.191 (1.00) |
1 (1.00) |
|
BCL6 | 5 (1%) | 412 |
0.64 (1.00) |
0.442 (1.00) |
0.682 (1.00) |
0.701 (1.00) |
1 (1.00) |
0.585 (1.00) |
1 (1.00) |
1 (1.00) |
1 (1.00) |
|
NFAT5 | 6 (1%) | 411 |
0.854 (1.00) |
0.678 (1.00) |
0.706 (1.00) |
0.748 (1.00) |
1 (1.00) |
0.595 (1.00) |
0.67 (1.00) |
1 (1.00) |
1 (1.00) |
|
LARP1 | 5 (1%) | 412 |
0.399 (1.00) |
0.278 (1.00) |
0.391 (1.00) |
0.47 (1.00) |
1 (1.00) |
0.585 (1.00) |
0.167 (1.00) |
1 (1.00) |
1 (1.00) |
|
KIAA1751 | 6 (1%) | 411 |
0.865 (1.00) |
0.208 (1.00) |
0.574 (1.00) |
1 (1.00) |
0.264 (1.00) |
0.595 (1.00) |
0.67 (1.00) |
1 (1.00) |
1 (1.00) |
|
INSRR | 4 (1%) | 413 |
0.0258 (1.00) |
0.112 (1.00) |
1 (1.00) |
0.792 (1.00) |
1 (1.00) |
0.505 (1.00) |
0.614 (1.00) |
1 (1.00) |
1 (1.00) |
P value = 0.00016 (Fisher's exact test), Q value = 0.042
nPatients | STAGE I | STAGE II | STAGE III | STAGE IV |
---|---|---|---|---|
ALL | 197 | 40 | 113 | 67 |
BAP1 MUTATED | 7 | 7 | 15 | 12 |
BAP1 WILD-TYPE | 190 | 33 | 98 | 55 |
P value = 0.00023 (Fisher's exact test), Q value = 0.06
nPatients | T1 | T2 | T3 | T4 |
---|---|---|---|---|
ALL | 202 | 49 | 160 | 6 |
BAP1 MUTATED | 8 | 10 | 23 | 0 |
BAP1 WILD-TYPE | 194 | 39 | 137 | 6 |
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Mutation data file = transformed.cor.cli.txt
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Clinical data file = KIRC-TP.merged_data.txt
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Number of patients = 417
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Number of significantly mutated genes = 29
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Number of selected clinical features = 10
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Exclude genes that fewer than K tumors have mutations, K = 3
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
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
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.
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.