This pipeline computes the correlation between significantly recurrent gene mutations and molecular subtypes.
Testing the association between mutation status of 26 genes and 10 molecular subtypes across 219 patients, 21 significant findings detected with P value < 0.05 and Q value < 0.25.
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PIK3CA mutation correlated to 'CN_CNMF', 'METHLYATION_CNMF', 'RPPA_CHIERARCHICAL', 'MRNASEQ_CNMF', 'MRNASEQ_CHIERARCHICAL', and 'MIRSEQ_MATURE_CHIERARCHICAL'.
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PGM5 mutation correlated to 'METHLYATION_CNMF'.
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CBWD1 mutation correlated to 'CN_CNMF', 'METHLYATION_CNMF', and 'RPPA_CNMF'.
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TP53 mutation correlated to 'CN_CNMF', 'METHLYATION_CNMF', 'MRNASEQ_CNMF', 'MIRSEQ_CHIERARCHICAL', and 'MIRSEQ_MATURE_CHIERARCHICAL'.
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ARID1A mutation correlated to 'CN_CNMF', 'MRNASEQ_CNMF', and 'MRNASEQ_CHIERARCHICAL'.
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RHOA mutation correlated to 'MIRSEQ_MATURE_CNMF'.
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BCOR mutation correlated to 'METHLYATION_CNMF' and 'MIRSEQ_CHIERARCHICAL'.
Clinical Features |
CN CNMF |
METHLYATION CNMF |
RPPA CNMF |
RPPA CHIERARCHICAL |
MRNASEQ CNMF |
MRNASEQ CHIERARCHICAL |
MIRSEQ CNMF |
MIRSEQ CHIERARCHICAL |
MIRSEQ MATURE CNMF |
MIRSEQ MATURE CHIERARCHICAL |
||
nMutated (%) | nWild-Type | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Chi-square test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | |
PIK3CA | 48 (22%) | 171 |
5.42e-05 (0.0133) |
1.83e-09 (4.65e-07) |
0.0119 (1.00) |
0.000478 (0.114) |
0.000815 (0.194) |
5.05e-07 (0.000128) |
0.017 (1.00) |
0.00544 (1.00) |
0.0478 (1.00) |
0.000865 (0.205) |
TP53 | 98 (45%) | 121 |
9.45e-11 (2.41e-08) |
3.18e-05 (0.00792) |
0.209 (1.00) |
0.667 (1.00) |
0.000382 (0.0921) |
0.00163 (0.377) |
0.00723 (1.00) |
5.1e-06 (0.00128) |
0.286 (1.00) |
0.000325 (0.0786) |
CBWD1 | 28 (13%) | 191 |
9.54e-05 (0.0232) |
1.79e-06 (0.000452) |
5.26e-05 (0.013) |
0.00312 (0.699) |
0.00122 (0.286) |
0.00844 (1.00) |
0.0309 (1.00) |
0.00232 (0.528) |
0.178 (1.00) |
0.00237 (0.537) |
ARID1A | 41 (19%) | 178 |
6.15e-05 (0.0151) |
0.00262 (0.591) |
0.0122 (1.00) |
0.19 (1.00) |
0.00097 (0.229) |
1.85e-05 (0.00463) |
0.0423 (1.00) |
0.0392 (1.00) |
0.679 (1.00) |
0.297 (1.00) |
BCOR | 16 (7%) | 203 |
0.00518 (1.00) |
6.67e-05 (0.0163) |
0.147 (1.00) |
0.0109 (1.00) |
0.0583 (1.00) |
0.0234 (1.00) |
0.0129 (1.00) |
0.000453 (0.109) |
0.273 (1.00) |
0.151 (1.00) |
PGM5 | 22 (10%) | 197 |
0.00223 (0.51) |
4.28e-05 (0.0106) |
0.159 (1.00) |
0.0601 (1.00) |
0.00267 (0.601) |
0.0046 (1.00) |
0.264 (1.00) |
0.0242 (1.00) |
0.0857 (1.00) |
0.138 (1.00) |
RHOA | 13 (6%) | 206 |
0.159 (1.00) |
0.189 (1.00) |
0.871 (1.00) |
1 (1.00) |
0.623 (1.00) |
0.238 (1.00) |
0.00166 (0.382) |
0.185 (1.00) |
0.00106 (0.248) |
0.127 (1.00) |
TRIM48 | 14 (6%) | 205 |
0.235 (1.00) |
0.322 (1.00) |
0.0289 (1.00) |
0.164 (1.00) |
0.377 (1.00) |
0.925 (1.00) |
0.472 (1.00) |
0.28 (1.00) |
0.0931 (1.00) |
0.597 (1.00) |
KRAS | 25 (11%) | 194 |
0.0145 (1.00) |
0.127 (1.00) |
0.541 (1.00) |
0.96 (1.00) |
0.262 (1.00) |
0.0511 (1.00) |
0.262 (1.00) |
0.184 (1.00) |
0.233 (1.00) |
0.947 (1.00) |
SMAD4 | 19 (9%) | 200 |
0.948 (1.00) |
0.963 (1.00) |
0.0592 (1.00) |
0.747 (1.00) |
0.033 (1.00) |
0.0914 (1.00) |
0.409 (1.00) |
0.618 (1.00) |
0.248 (1.00) |
0.201 (1.00) |
MXRA8 | 10 (5%) | 209 |
0.156 (1.00) |
0.0232 (1.00) |
0.273 (1.00) |
0.0118 (1.00) |
0.00479 (1.00) |
0.0989 (1.00) |
0.0322 (1.00) |
0.0102 (1.00) |
0.541 (1.00) |
0.125 (1.00) |
IRF2 | 15 (7%) | 204 |
0.158 (1.00) |
0.233 (1.00) |
0.118 (1.00) |
0.588 (1.00) |
0.059 (1.00) |
0.199 (1.00) |
0.00786 (1.00) |
0.0221 (1.00) |
0.0852 (1.00) |
0.0309 (1.00) |
CDH1 | 18 (8%) | 201 |
0.215 (1.00) |
0.458 (1.00) |
0.611 (1.00) |
0.443 (1.00) |
0.0481 (1.00) |
0.0529 (1.00) |
0.016 (1.00) |
0.0675 (1.00) |
0.0561 (1.00) |
0.114 (1.00) |
PTEN | 14 (6%) | 205 |
0.0166 (1.00) |
0.0152 (1.00) |
0.00319 (0.711) |
0.0191 (1.00) |
0.0222 (1.00) |
0.0956 (1.00) |
0.115 (1.00) |
0.022 (1.00) |
0.207 (1.00) |
0.0121 (1.00) |
FBXW7 | 19 (9%) | 200 |
0.0318 (1.00) |
0.022 (1.00) |
0.00143 (0.334) |
0.00428 (0.938) |
0.00378 (0.839) |
0.942 (1.00) |
0.0467 (1.00) |
0.00412 (0.907) |
0.00402 (0.889) |
0.00596 (1.00) |
B2M | 8 (4%) | 211 |
0.0175 (1.00) |
0.0232 (1.00) |
0.086 (1.00) |
0.414 (1.00) |
0.13 (1.00) |
0.683 (1.00) |
0.314 (1.00) |
0.15 (1.00) |
0.907 (1.00) |
0.125 (1.00) |
PTH2 | 4 (2%) | 215 |
1 (1.00) |
0.687 (1.00) |
1 (1.00) |
0.836 (1.00) |
0.336 (1.00) |
1 (1.00) |
0.467 (1.00) |
1 (1.00) |
0.821 (1.00) |
1 (1.00) |
FAM46D | 6 (3%) | 213 |
0.548 (1.00) |
0.708 (1.00) |
0.744 (1.00) |
0.425 (1.00) |
0.152 (1.00) |
0.64 (1.00) |
0.878 (1.00) |
0.766 (1.00) |
1 (1.00) |
0.71 (1.00) |
APC | 33 (15%) | 186 |
1 (1.00) |
0.0207 (1.00) |
0.0627 (1.00) |
0.0631 (1.00) |
0.178 (1.00) |
0.031 (1.00) |
0.00869 (1.00) |
0.0136 (1.00) |
0.0623 (1.00) |
0.00145 (0.337) |
RNF43 | 9 (4%) | 210 |
0.0478 (1.00) |
0.596 (1.00) |
0.576 (1.00) |
0.189 (1.00) |
0.0708 (1.00) |
0.53 (1.00) |
0.435 (1.00) |
0.182 (1.00) |
0.881 (1.00) |
0.411 (1.00) |
MAP2K7 | 14 (6%) | 205 |
0.0166 (1.00) |
0.0984 (1.00) |
0.822 (1.00) |
0.81 (1.00) |
0.191 (1.00) |
0.861 (1.00) |
0.308 (1.00) |
0.085 (1.00) |
0.791 (1.00) |
0.461 (1.00) |
WSB2 | 7 (3%) | 212 |
0.224 (1.00) |
0.131 (1.00) |
0.086 (1.00) |
0.0797 (1.00) |
0.115 (1.00) |
0.21 (1.00) |
0.0319 (1.00) |
0.00742 (1.00) |
0.252 (1.00) |
0.0666 (1.00) |
TRPS1 | 30 (14%) | 189 |
0.67 (1.00) |
0.0397 (1.00) |
0.106 (1.00) |
0.108 (1.00) |
0.0158 (1.00) |
0.554 (1.00) |
0.437 (1.00) |
0.414 (1.00) |
0.327 (1.00) |
0.231 (1.00) |
C13ORF33 | 6 (3%) | 213 |
0.749 (1.00) |
0.0165 (1.00) |
0.0147 (1.00) |
0.113 (1.00) |
0.11 (1.00) |
0.682 (1.00) |
0.589 (1.00) |
0.333 (1.00) |
0.324 (1.00) |
0.411 (1.00) |
HRCT1 | 4 (2%) | 215 |
0.297 (1.00) |
0.915 (1.00) |
0.348 (1.00) |
0.123 (1.00) |
0.109 (1.00) |
0.0341 (1.00) |
0.389 (1.00) |
0.332 (1.00) |
||
IAPP | 4 (2%) | 215 |
0.377 (1.00) |
0.844 (1.00) |
0.533 (1.00) |
0.742 (1.00) |
0.214 (1.00) |
0.688 (1.00) |
0.821 (1.00) |
P value = 5.42e-05 (Fisher's exact test), Q value = 0.013
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 109 | 35 | 74 |
PIK3CA MUTATED | 36 | 7 | 5 |
PIK3CA WILD-TYPE | 73 | 28 | 69 |
P value = 1.83e-09 (Fisher's exact test), Q value = 4.6e-07
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 27 | 51 | 44 | 53 |
PIK3CA MUTATED | 19 | 15 | 4 | 4 |
PIK3CA WILD-TYPE | 8 | 36 | 40 | 49 |
P value = 0.000478 (Fisher's exact test), Q value = 0.11
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 74 | 38 | 84 |
PIK3CA MUTATED | 7 | 15 | 23 |
PIK3CA WILD-TYPE | 67 | 23 | 61 |
P value = 0.000815 (Chi-square test), Q value = 0.19
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 45 | 43 | 29 | 33 | 44 |
PIK3CA MUTATED | 19 | 8 | 4 | 10 | 3 |
PIK3CA WILD-TYPE | 26 | 35 | 25 | 23 | 41 |
P value = 5.05e-07 (Fisher's exact test), Q value = 0.00013
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 48 | 97 | 49 |
PIK3CA MUTATED | 5 | 37 | 2 |
PIK3CA WILD-TYPE | 43 | 60 | 47 |
P value = 0.000865 (Fisher's exact test), Q value = 0.2
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 38 | 47 | 91 |
PIK3CA MUTATED | 2 | 9 | 31 |
PIK3CA WILD-TYPE | 36 | 38 | 60 |
P value = 4.28e-05 (Fisher's exact test), Q value = 0.011
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 27 | 51 | 44 | 53 |
PGM5 MUTATED | 3 | 12 | 1 | 0 |
PGM5 WILD-TYPE | 24 | 39 | 43 | 53 |
P value = 9.54e-05 (Fisher's exact test), Q value = 0.023
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 109 | 35 | 74 |
CBWD1 MUTATED | 23 | 4 | 1 |
CBWD1 WILD-TYPE | 86 | 31 | 73 |
P value = 1.79e-06 (Fisher's exact test), Q value = 0.00045
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 27 | 51 | 44 | 53 |
CBWD1 MUTATED | 4 | 16 | 2 | 0 |
CBWD1 WILD-TYPE | 23 | 35 | 42 | 53 |
P value = 5.26e-05 (Fisher's exact test), Q value = 0.013
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 61 | 68 | 67 |
CBWD1 MUTATED | 18 | 2 | 7 |
CBWD1 WILD-TYPE | 43 | 66 | 60 |
P value = 9.45e-11 (Fisher's exact test), Q value = 2.4e-08
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 109 | 35 | 74 |
TP53 MUTATED | 24 | 24 | 49 |
TP53 WILD-TYPE | 85 | 11 | 25 |
P value = 3.18e-05 (Fisher's exact test), Q value = 0.0079
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 27 | 51 | 44 | 53 |
TP53 MUTATED | 5 | 25 | 15 | 37 |
TP53 WILD-TYPE | 22 | 26 | 29 | 16 |
P value = 0.000382 (Chi-square test), Q value = 0.092
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 45 | 43 | 29 | 33 | 44 |
TP53 MUTATED | 14 | 12 | 10 | 18 | 30 |
TP53 WILD-TYPE | 31 | 31 | 19 | 15 | 14 |
P value = 5.1e-06 (Fisher's exact test), Q value = 0.0013
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 93 | 55 | 71 |
TP53 MUTATED | 36 | 40 | 22 |
TP53 WILD-TYPE | 57 | 15 | 49 |
P value = 0.000325 (Fisher's exact test), Q value = 0.079
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 38 | 47 | 91 |
TP53 MUTATED | 27 | 13 | 43 |
TP53 WILD-TYPE | 11 | 34 | 48 |
P value = 6.15e-05 (Fisher's exact test), Q value = 0.015
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 109 | 35 | 74 |
ARID1A MUTATED | 33 | 3 | 5 |
ARID1A WILD-TYPE | 76 | 32 | 69 |
P value = 0.00097 (Chi-square test), Q value = 0.23
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 45 | 43 | 29 | 33 | 44 |
ARID1A MUTATED | 18 | 9 | 4 | 6 | 2 |
ARID1A WILD-TYPE | 27 | 34 | 25 | 27 | 42 |
P value = 1.85e-05 (Fisher's exact test), Q value = 0.0046
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 48 | 97 | 49 |
ARID1A MUTATED | 7 | 31 | 1 |
ARID1A WILD-TYPE | 41 | 66 | 48 |
P value = 0.00106 (Fisher's exact test), Q value = 0.25
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 52 | 52 | 72 |
RHOA MUTATED | 3 | 8 | 0 |
RHOA WILD-TYPE | 49 | 44 | 72 |
P value = 6.67e-05 (Fisher's exact test), Q value = 0.016
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 27 | 51 | 44 | 53 |
BCOR MUTATED | 7 | 2 | 1 | 0 |
BCOR WILD-TYPE | 20 | 49 | 43 | 53 |
P value = 0.000453 (Fisher's exact test), Q value = 0.11
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 93 | 55 | 71 |
BCOR MUTATED | 14 | 0 | 2 |
BCOR WILD-TYPE | 79 | 55 | 69 |
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Mutation data file = STAD-TP.mutsig.cluster.txt
-
Molecular subtypes file = STAD-TP.transferedmergedcluster.txt
-
Number of patients = 219
-
Number of significantly mutated genes = 26
-
Number of Molecular subtypes = 10
-
Exclude genes that fewer than K tumors have mutations, K = 3
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 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
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.