This pipeline computes the correlation between significantly recurrent gene mutations and molecular subtypes.
Testing the association between mutation status of 7 genes and 6 molecular subtypes across 196 patients, 16 significant findings detected with P value < 0.05 and Q value < 0.25.
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DNMT3A mutation correlated to 'METHLYATION_CNMF', 'MIRSEQ_CNMF', and 'MIRSEQ_CHIERARCHICAL'.
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FLT3 mutation correlated to 'CN_CNMF', 'METHLYATION_CNMF', 'MRNASEQ_CNMF', 'MIRSEQ_CNMF', and 'MIRSEQ_CHIERARCHICAL'.
-
IDH2 mutation correlated to 'METHLYATION_CNMF'.
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IDH1 mutation correlated to 'METHLYATION_CNMF'.
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NPM1 mutation correlated to 'CN_CNMF', 'METHLYATION_CNMF', 'MRNASEQ_CNMF', 'MRNASEQ_CHIERARCHICAL', 'MIRSEQ_CNMF', and 'MIRSEQ_CHIERARCHICAL'.
Clinical Features |
CN CNMF |
METHLYATION CNMF |
MRNASEQ CNMF |
MRNASEQ CHIERARCHICAL |
MIRSEQ CNMF |
MIRSEQ CHIERARCHICAL |
||
nMutated (%) | nWild-Type | Fisher's exact test | Chi-square test | Fisher's exact test | Fisher's exact test | Fisher's exact test | Fisher's exact test | |
NPM1 | 54 (28%) | 142 |
4.59e-06 (0.000156) |
3.26e-20 (1.34e-18) |
3.08e-13 (1.2e-11) |
0.00649 (0.175) |
1.59e-13 (6.36e-12) |
3.26e-22 (1.37e-20) |
FLT3 | 56 (29%) | 140 |
0.000153 (0.00474) |
2.48e-05 (0.000819) |
2.2e-07 (8.36e-06) |
0.0209 (0.523) |
0.0005 (0.015) |
4.14e-05 (0.00132) |
DNMT3A | 51 (26%) | 145 |
0.511 (1.00) |
4e-07 (1.48e-05) |
0.0118 (0.308) |
0.195 (1.00) |
0.000888 (0.0258) |
4.26e-06 (0.000149) |
IDH2 | 20 (10%) | 176 |
0.109 (1.00) |
1.59e-06 (5.74e-05) |
0.733 (1.00) |
1 (1.00) |
0.739 (1.00) |
0.61 (1.00) |
IDH1 | 19 (10%) | 177 |
0.321 (1.00) |
0.00563 (0.158) |
0.433 (1.00) |
0.268 (1.00) |
0.281 (1.00) |
0.436 (1.00) |
U2AF1 | 8 (4%) | 188 |
1 (1.00) |
0.128 (1.00) |
0.232 (1.00) |
0.426 (1.00) |
0.0716 (1.00) |
0.234 (1.00) |
NRAS | 15 (8%) | 181 |
0.297 (1.00) |
0.892 (1.00) |
0.645 (1.00) |
0.539 (1.00) |
0.825 (1.00) |
0.756 (1.00) |
P value = 0.511 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 143 | 14 | 27 | 3 |
DNMT3A MUTATED | 38 | 4 | 4 | 1 |
DNMT3A WILD-TYPE | 105 | 10 | 23 | 2 |
P value = 4e-07 (Chi-square test), Q value = 1.5e-05
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 47 | 44 | 65 | 14 | 20 |
DNMT3A MUTATED | 25 | 1 | 19 | 1 | 3 |
DNMT3A WILD-TYPE | 22 | 43 | 46 | 13 | 17 |
P value = 0.0118 (Fisher's exact test), Q value = 0.31
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 73 | 52 | 45 |
DNMT3A MUTATED | 11 | 20 | 12 |
DNMT3A WILD-TYPE | 62 | 32 | 33 |
P value = 0.195 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 |
---|---|---|
ALL | 57 | 113 |
DNMT3A MUTATED | 18 | 25 |
DNMT3A WILD-TYPE | 39 | 88 |
P value = 0.000888 (Fisher's exact test), Q value = 0.026
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 58 | 38 | 42 | 46 |
DNMT3A MUTATED | 24 | 4 | 5 | 13 |
DNMT3A WILD-TYPE | 34 | 34 | 37 | 33 |
P value = 4.26e-06 (Fisher's exact test), Q value = 0.00015
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 36 | 80 | 68 |
DNMT3A MUTATED | 2 | 34 | 10 |
DNMT3A WILD-TYPE | 34 | 46 | 58 |
P value = 1 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 143 | 14 | 27 | 3 |
U2AF1 MUTATED | 5 | 0 | 1 | 0 |
U2AF1 WILD-TYPE | 138 | 14 | 26 | 3 |
P value = 0.128 (Chi-square test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 47 | 44 | 65 | 14 | 20 |
U2AF1 MUTATED | 1 | 0 | 6 | 0 | 1 |
U2AF1 WILD-TYPE | 46 | 44 | 59 | 14 | 19 |
P value = 0.232 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 73 | 52 | 45 |
U2AF1 MUTATED | 5 | 2 | 0 |
U2AF1 WILD-TYPE | 68 | 50 | 45 |
P value = 0.426 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 |
---|---|---|
ALL | 57 | 113 |
U2AF1 MUTATED | 1 | 6 |
U2AF1 WILD-TYPE | 56 | 107 |
P value = 0.0716 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 58 | 38 | 42 | 46 |
U2AF1 MUTATED | 1 | 2 | 4 | 0 |
U2AF1 WILD-TYPE | 57 | 36 | 38 | 46 |
P value = 0.234 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 36 | 80 | 68 |
U2AF1 MUTATED | 2 | 1 | 4 |
U2AF1 WILD-TYPE | 34 | 79 | 64 |
P value = 0.000153 (Fisher's exact test), Q value = 0.0047
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 143 | 14 | 27 | 3 |
FLT3 MUTATED | 51 | 3 | 0 | 0 |
FLT3 WILD-TYPE | 92 | 11 | 27 | 3 |
P value = 2.48e-05 (Chi-square test), Q value = 0.00082
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 47 | 44 | 65 | 14 | 20 |
FLT3 MUTATED | 26 | 12 | 8 | 2 | 7 |
FLT3 WILD-TYPE | 21 | 32 | 57 | 12 | 13 |
P value = 2.2e-07 (Fisher's exact test), Q value = 8.4e-06
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 73 | 52 | 45 |
FLT3 MUTATED | 6 | 20 | 23 |
FLT3 WILD-TYPE | 67 | 32 | 22 |
P value = 0.0209 (Fisher's exact test), Q value = 0.52
nPatients | CLUS_1 | CLUS_2 |
---|---|---|
ALL | 57 | 113 |
FLT3 MUTATED | 23 | 26 |
FLT3 WILD-TYPE | 34 | 87 |
P value = 5e-04 (Fisher's exact test), Q value = 0.015
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 58 | 38 | 42 | 46 |
FLT3 MUTATED | 25 | 4 | 7 | 18 |
FLT3 WILD-TYPE | 33 | 34 | 35 | 28 |
P value = 4.14e-05 (Fisher's exact test), Q value = 0.0013
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 36 | 80 | 68 |
FLT3 MUTATED | 4 | 37 | 13 |
FLT3 WILD-TYPE | 32 | 43 | 55 |
P value = 0.109 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 143 | 14 | 27 | 3 |
IDH2 MUTATED | 14 | 4 | 1 | 0 |
IDH2 WILD-TYPE | 129 | 10 | 26 | 3 |
P value = 1.59e-06 (Chi-square test), Q value = 5.7e-05
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 47 | 44 | 65 | 14 | 20 |
IDH2 MUTATED | 0 | 0 | 11 | 6 | 1 |
IDH2 WILD-TYPE | 47 | 44 | 54 | 8 | 19 |
P value = 0.733 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 73 | 52 | 45 |
IDH2 MUTATED | 8 | 6 | 3 |
IDH2 WILD-TYPE | 65 | 46 | 42 |
P value = 1 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 |
---|---|---|
ALL | 57 | 113 |
IDH2 MUTATED | 6 | 11 |
IDH2 WILD-TYPE | 51 | 102 |
P value = 0.739 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 58 | 38 | 42 | 46 |
IDH2 MUTATED | 5 | 2 | 5 | 5 |
IDH2 WILD-TYPE | 53 | 36 | 37 | 41 |
P value = 0.61 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 36 | 80 | 68 |
IDH2 MUTATED | 2 | 7 | 8 |
IDH2 WILD-TYPE | 34 | 73 | 60 |
P value = 0.321 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 143 | 14 | 27 | 3 |
IDH1 MUTATED | 15 | 1 | 1 | 1 |
IDH1 WILD-TYPE | 128 | 13 | 26 | 2 |
P value = 0.00563 (Chi-square test), Q value = 0.16
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 47 | 44 | 65 | 14 | 20 |
IDH1 MUTATED | 5 | 0 | 10 | 4 | 0 |
IDH1 WILD-TYPE | 42 | 44 | 55 | 10 | 20 |
P value = 0.433 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 73 | 52 | 45 |
IDH1 MUTATED | 7 | 3 | 6 |
IDH1 WILD-TYPE | 66 | 49 | 39 |
P value = 0.268 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 |
---|---|---|
ALL | 57 | 113 |
IDH1 MUTATED | 3 | 13 |
IDH1 WILD-TYPE | 54 | 100 |
P value = 0.281 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 58 | 38 | 42 | 46 |
IDH1 MUTATED | 5 | 4 | 2 | 8 |
IDH1 WILD-TYPE | 53 | 34 | 40 | 38 |
P value = 0.436 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 36 | 80 | 68 |
IDH1 MUTATED | 3 | 11 | 5 |
IDH1 WILD-TYPE | 33 | 69 | 63 |
P value = 4.59e-06 (Fisher's exact test), Q value = 0.00016
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 143 | 14 | 27 | 3 |
NPM1 MUTATED | 52 | 0 | 0 | 0 |
NPM1 WILD-TYPE | 91 | 14 | 27 | 3 |
P value = 3.26e-20 (Chi-square test), Q value = 1.3e-18
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 47 | 44 | 65 | 14 | 20 |
NPM1 MUTATED | 36 | 0 | 4 | 9 | 4 |
NPM1 WILD-TYPE | 11 | 44 | 61 | 5 | 16 |
P value = 3.08e-13 (Fisher's exact test), Q value = 1.2e-11
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 73 | 52 | 45 |
NPM1 MUTATED | 1 | 22 | 25 |
NPM1 WILD-TYPE | 72 | 30 | 20 |
P value = 0.00649 (Fisher's exact test), Q value = 0.18
nPatients | CLUS_1 | CLUS_2 |
---|---|---|
ALL | 57 | 113 |
NPM1 MUTATED | 24 | 24 |
NPM1 WILD-TYPE | 33 | 89 |
P value = 1.59e-13 (Fisher's exact test), Q value = 6.4e-12
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 58 | 38 | 42 | 46 |
NPM1 MUTATED | 37 | 2 | 1 | 12 |
NPM1 WILD-TYPE | 21 | 36 | 41 | 34 |
P value = 3.26e-22 (Fisher's exact test), Q value = 1.4e-20
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 36 | 80 | 68 |
NPM1 MUTATED | 0 | 51 | 1 |
NPM1 WILD-TYPE | 36 | 29 | 67 |
P value = 0.297 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 143 | 14 | 27 | 3 |
NRAS MUTATED | 10 | 1 | 3 | 1 |
NRAS WILD-TYPE | 133 | 13 | 24 | 2 |
P value = 0.892 (Chi-square test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 | CLUS_5 |
---|---|---|---|---|---|
ALL | 47 | 44 | 65 | 14 | 20 |
NRAS MUTATED | 4 | 3 | 5 | 2 | 1 |
NRAS WILD-TYPE | 43 | 41 | 60 | 12 | 19 |
P value = 0.645 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 73 | 52 | 45 |
NRAS MUTATED | 5 | 5 | 2 |
NRAS WILD-TYPE | 68 | 47 | 43 |
P value = 0.539 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 |
---|---|---|
ALL | 57 | 113 |
NRAS MUTATED | 5 | 7 |
NRAS WILD-TYPE | 52 | 106 |
P value = 0.825 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 | CLUS_4 |
---|---|---|---|---|
ALL | 58 | 38 | 42 | 46 |
NRAS MUTATED | 5 | 3 | 4 | 2 |
NRAS WILD-TYPE | 53 | 35 | 38 | 44 |
P value = 0.756 (Fisher's exact test), Q value = 1
nPatients | CLUS_1 | CLUS_2 | CLUS_3 |
---|---|---|---|
ALL | 36 | 80 | 68 |
NRAS MUTATED | 3 | 7 | 4 |
NRAS WILD-TYPE | 33 | 73 | 64 |
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Mutation data file = transformed.cor.cli.txt
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Molecular subtypes file = LAML-TB.transferedmergedcluster.txt
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Number of patients = 196
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Number of significantly mutated genes = 7
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Number of Molecular subtypes = 6
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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.