Colon Adenocarcinoma: Mutation Analysis (MutSig v2.0)
(primary solid tumor cohort)
(primary solid tumor cohort)
Maintained by Dan DiCara
(Broad Institute)
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Overview
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Introduction
This report serves to describe the mutational landscape and properties of a given individual set, as well as rank genes and genesets according to mutational significance. MutSig v2.0 was used to generate the results found in this report.
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Working with individual set: COAD-TP
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Number of patients in set: 155
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Input
The input for this pipeline is a set of individuals with the following files associated for each:
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An annotated .maf file describing the mutations called for the respective individual, and their properties.
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A .wig file that contains information about the coverage of the sample.
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Summary
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MAF used for this analysis:COAD-TP.final_analysis_set.maf
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Significantly mutated genes (q ≤ 0.1): 131
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Mutations seen in COSMIC: 517
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Significantly mutated genes in COSMIC territory: 23
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Genes with clustered mutations (≤ 3 aa apart): 350
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Significantly mutated genesets: 156
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Significantly mutated genesets: (excluding sig. mutated genes):0
Mutation Preprocessing
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Read 102 MAFs of type "Broad"
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Read 53 MAFs of type "Baylor"
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Total number of mutations in input MAFs: 62560
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After removing 1112 invalidated mutations: 61448
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After removing 976 noncoding mutations: 60472
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After collapsing adjacent/redundant mutations: 60470
Mutation Filtering
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Number of mutations before filtering: 60470
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After removing 665 mutations outside gene set: 59805
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After removing 171 mutations outside category set: 59634
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After removing 9 "impossible" mutations in
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gene-patient-category bins of zero coverage: 58789
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Results
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Breakdown of Mutations by Type
Table 1. Get Full Table Table representing breakdown of mutations by type.
| type | count |
|---|---|
| De_novo_Start_InFrame | 16 |
| De_novo_Start_OutOfFrame | 126 |
| Frame_Shift_Del | 1137 |
| Frame_Shift_Ins | 654 |
| In_Frame_Del | 139 |
| In_Frame_Ins | 19 |
| Missense_Mutation | 39602 |
| Nonsense_Mutation | 3274 |
| Nonstop_Mutation | 30 |
| Silent | 14487 |
| Splice_Site | 148 |
| Translation_Start_Site | 2 |
| Total | 59634 |
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Breakdown of Mutation Rates by Category Type
Table 2. Get Full Table A breakdown of mutation rates per category discovered for this individual set.
| category | n | N | rate | rate_per_mb | relative_rate |
|---|---|---|---|---|---|
| *CpG->T | 15461 | 235764747 | 0.000066 | 66 | 6.2 |
| *Np(A/C/T)->transit | 10142 | 3394090912 | 3e-06 | 3 | 0.28 |
| *ApG->G | 966 | 657627616 | 1.5e-06 | 1.5 | 0.14 |
| transver | 13028 | 4287483275 | 3e-06 | 3 | 0.29 |
| indel+null | 5396 | 4287483377 | 1.3e-06 | 1.3 | 0.12 |
| double_null | 147 | 4287483377 | 3.4e-08 | 0.034 | 0.0033 |
| Total | 45140 | 4287483377 | 0.000011 | 11 | 1 |
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Target Coverage for Each Individual
The x axis represents the samples. The y axis represents the exons, one row per exon, and they are sorted by average coverage across samples. For exons with exactly the same average coverage, they are sorted next by the %GC of the exon. (The secondary sort is especially useful for the zero-coverage exons at the bottom).
Figure 1.
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Distribution of Mutation Counts, Coverage, and Mutation Rates Across Samples
Figure 2. Patients counts and rates file used to generate this plot: COAD-TP.patients.counts_and_rates.txt
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CoMut Plot
Figure 3. Get High-res Image The matrix in the center of the figure represents individual mutations in patient samples, color-coded by type of mutation, for the significantly mutated genes. The rate of synonymous and non-synonymous mutations is displayed at the top of the matrix. The barplot on the left of the matrix shows the number of mutations in each gene. The percentages represent the fraction of tumors with at least one mutation in the specified gene. The barplot to the right of the matrix displays the q-values for the most significantly mutated genes. The purple boxplots below the matrix (only displayed if required columns are present in the provided MAF) represent the distributions of allelic fractions observed in each sample. The plot at the bottom represents the base substitution distribution of individual samples, using the same categories that were used to calculate significance.
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Significantly Mutated Genes
Column Descriptions:
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N = number of sequenced bases in this gene across the individual set
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n = number of (nonsilent) mutations in this gene across the individual set
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npat = number of patients (individuals) with at least one nonsilent mutation
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nsite = number of unique sites having a non-silent mutation
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nsil = number of silent mutations in this gene across the individual set
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n1 = number of nonsilent mutations of type: *CpG->T
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n2 = number of nonsilent mutations of type: *Np(A/C/T)->transit
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n3 = number of nonsilent mutations of type: *ApG->G
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n4 = number of nonsilent mutations of type: transver
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n5 = number of nonsilent mutations of type: indel+null
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n6 = number of nonsilent mutations of type: double_null
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p_classic = p-value for the observed amount of nonsilent mutations being elevated in this gene
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p_cons = p-value for enrichment of mutations at evolutionarily most-conserved sites in gene
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p_joint = p-value for clustering + conservation
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p = p-value (overall)
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q = q-value, False Discovery Rate (Benjamini-Hochberg procedure)
Table 3. Get Full Table A Ranked List of Significantly Mutated Genes. Number of significant genes found: 131. Number of genes displayed: 35. Click on a gene name to display its stick figure depicting the distribution of mutations and mutation types across the chosen gene (this feature may not be available for all significant genes).
| rank | gene | description | N | n | npat | nsite | nsil | n1 | n2 | n3 | n4 | n5 | n6 | p_classic | p_cons | p_joint | p | q |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | APC | adenomatous polyposis coli | 1314776 | 121 | 103 | 85 | 4 | 5 | 6 | 1 | 11 | 64 | 34 | <1.00e-15 | NaN | NaN | <1.00e-15 | <8.98e-12 |
| 2 | KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | 109406 | 58 | 58 | 8 | 0 | 0 | 31 | 0 | 27 | 0 | 0 | <1.00e-15 | NaN | NaN | <1.00e-15 | <8.98e-12 |
| 3 | TP53 | tumor protein p53 | 188069 | 77 | 75 | 50 | 1 | 29 | 11 | 0 | 11 | 26 | 0 | 2.00e-15 | NaN | NaN | 2.00e-15 | 1.20e-11 |
| 4 | SMAD4 | SMAD family member 4 | 262233 | 21 | 18 | 17 | 0 | 8 | 7 | 0 | 2 | 3 | 1 | 3.11e-15 | NaN | NaN | 3.11e-15 | 1.40e-11 |
| 5 | NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog | 90830 | 15 | 15 | 7 | 0 | 2 | 2 | 0 | 11 | 0 | 0 | 6.55e-15 | NaN | NaN | 6.55e-15 | 1.99e-11 |
| 6 | PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 423914 | 33 | 26 | 18 | 1 | 5 | 19 | 1 | 8 | 0 | 0 | 7.33e-15 | NaN | NaN | 7.33e-15 | 1.99e-11 |
| 7 | FBXW7 | F-box and WD repeat domain containing 7 | 400174 | 33 | 29 | 21 | 2 | 17 | 1 | 0 | 8 | 7 | 0 | 7.77e-15 | NaN | NaN | 7.77e-15 | 1.99e-11 |
| 8 | FAM123B | family with sequence similarity 123B | 451470 | 19 | 19 | 17 | 1 | 1 | 2 | 0 | 2 | 14 | 0 | 1.14e-12 | NaN | NaN | 1.14e-12 | 2.56e-09 |
| 9 | TTN | titin | 12154158 | 203 | 69 | 199 | 58 | 61 | 50 | 3 | 73 | 10 | 6 | 1.55e-12 | NaN | NaN | 1.55e-12 | 3.09e-09 |
| 10 | BRAF | v-raf murine sarcoma viral oncogene homolog B1 | 342233 | 21 | 20 | 3 | 0 | 0 | 0 | 0 | 21 | 0 | 0 | 3.86e-12 | NaN | NaN | 3.86e-12 | 6.94e-09 |
| 11 | WBSCR17 | Williams-Beuren syndrome chromosome region 17 | 278161 | 17 | 17 | 16 | 2 | 10 | 2 | 1 | 1 | 3 | 0 | 1.76e-09 | NaN | NaN | 1.76e-09 | 2.87e-06 |
| 12 | ACVR1B | activin A receptor, type IB | 235764 | 13 | 13 | 13 | 0 | 4 | 6 | 0 | 2 | 1 | 0 | 4.07e-08 | NaN | NaN | 4.07e-08 | 6.09e-05 |
| 13 | LRP1B | low density lipoprotein-related protein 1B (deleted in tumors) | 2190256 | 55 | 30 | 55 | 14 | 8 | 11 | 3 | 26 | 4 | 3 | 1.25e-07 | NaN | NaN | 1.25e-07 | 0.000172 |
| 14 | SMAD2 | SMAD family member 2 | 223461 | 11 | 10 | 8 | 1 | 3 | 0 | 0 | 4 | 4 | 0 | 1.92e-07 | NaN | NaN | 1.92e-07 | 0.000246 |
| 15 | CNTN6 | contactin 6 | 490742 | 19 | 15 | 19 | 2 | 5 | 3 | 0 | 10 | 1 | 0 | 4.76e-07 | NaN | NaN | 4.76e-07 | 0.000570 |
| 16 | PCDH9 | protocadherin 9 | 573119 | 19 | 16 | 19 | 6 | 1 | 4 | 0 | 13 | 1 | 0 | 1.01e-06 | NaN | NaN | 1.01e-06 | 0.00114 |
| 17 | SOX9 | SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) | 180663 | 9 | 9 | 9 | 0 | 0 | 1 | 0 | 0 | 8 | 0 | 1.47e-06 | NaN | NaN | 1.47e-06 | 0.00155 |
| 18 | TXNDC3 | thioredoxin domain containing 3 (spermatozoa) | 283045 | 13 | 10 | 13 | 2 | 3 | 1 | 1 | 3 | 5 | 0 | 1.69e-06 | NaN | NaN | 1.69e-06 | 0.00169 |
| 19 | MAP2K4 | mitogen-activated protein kinase kinase 4 | 171130 | 9 | 9 | 8 | 0 | 2 | 3 | 1 | 2 | 1 | 0 | 2.36e-06 | NaN | NaN | 2.36e-06 | 0.00223 |
| 20 | SDK1 | sidekick homolog 1, cell adhesion molecule (chicken) | 943748 | 27 | 25 | 25 | 7 | 18 | 2 | 0 | 6 | 1 | 0 | 2.78e-06 | NaN | NaN | 2.78e-06 | 0.00250 |
| 21 | OR6N1 | olfactory receptor, family 6, subfamily N, member 1 | 145983 | 8 | 8 | 8 | 2 | 1 | 2 | 1 | 4 | 0 | 0 | 3.50e-06 | NaN | NaN | 3.50e-06 | 0.00299 |
| 22 | GRIA1 | glutamate receptor, ionotropic, AMPA 1 | 431079 | 18 | 14 | 17 | 5 | 7 | 5 | 2 | 3 | 1 | 0 | 3.69e-06 | NaN | NaN | 3.69e-06 | 0.00301 |
| 23 | OTOL1 | otolin 1 | 130050 | 7 | 7 | 6 | 0 | 3 | 1 | 0 | 2 | 1 | 0 | 4.02e-06 | NaN | NaN | 4.02e-06 | 0.00306 |
| 24 | DMD | dystrophin (muscular dystrophy, Duchenne and Becker types) | 1775675 | 36 | 27 | 35 | 4 | 6 | 5 | 2 | 16 | 7 | 0 | 4.21e-06 | NaN | NaN | 4.21e-06 | 0.00306 |
| 25 | NRXN1 | neurexin 1 | 545096 | 21 | 17 | 21 | 8 | 8 | 1 | 0 | 10 | 2 | 0 | 4.27e-06 | NaN | NaN | 4.27e-06 | 0.00306 |
| 26 | OR2M4 | olfactory receptor, family 2, subfamily M, member 4 | 145654 | 8 | 8 | 8 | 0 | 3 | 2 | 1 | 0 | 2 | 0 | 4.77e-06 | NaN | NaN | 4.77e-06 | 0.00330 |
| 27 | MGC42105 | 204495 | 10 | 10 | 10 | 1 | 5 | 1 | 0 | 2 | 2 | 0 | 5.31e-06 | NaN | NaN | 5.31e-06 | 0.00354 | |
| 28 | AFF2 | AF4/FMR2 family, member 2 | 612522 | 17 | 15 | 16 | 9 | 2 | 7 | 0 | 8 | 0 | 0 | 6.25e-06 | NaN | NaN | 6.25e-06 | 0.00392 |
| 29 | KCNA4 | potassium voltage-gated channel, shaker-related subfamily, member 4 | 268700 | 11 | 10 | 11 | 3 | 4 | 1 | 2 | 2 | 2 | 0 | 6.32e-06 | NaN | NaN | 6.32e-06 | 0.00392 |
| 30 | MGC26647 | chromosome 7 open reading frame 62 | 117898 | 7 | 7 | 7 | 0 | 1 | 1 | 0 | 2 | 3 | 0 | 6.98e-06 | NaN | NaN | 6.98e-06 | 0.00418 |
| 31 | TNFRSF10C | tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain | 116831 | 6 | 6 | 2 | 0 | 0 | 0 | 0 | 6 | 0 | 0 | 8.37e-06 | NaN | NaN | 8.37e-06 | 0.00485 |
| 32 | TPTE | transmembrane phosphatase with tensin homology | 260655 | 14 | 11 | 13 | 1 | 5 | 2 | 2 | 4 | 1 | 0 | 9.81e-06 | NaN | NaN | 9.81e-06 | 0.00551 |
| 33 | CDH11 | cadherin 11, type 2, OB-cadherin (osteoblast) | 367959 | 13 | 13 | 13 | 5 | 2 | 7 | 1 | 3 | 0 | 0 | 1.02e-05 | NaN | NaN | 1.02e-05 | 0.00553 |
| 34 | PCDHB2 | protocadherin beta 2 | 312317 | 13 | 13 | 13 | 6 | 8 | 2 | 1 | 1 | 1 | 0 | 1.17e-05 | NaN | NaN | 1.17e-05 | 0.00602 |
| 35 | GABRA5 | gamma-aminobutyric acid (GABA) A receptor, alpha 5 | 125970 | 8 | 8 | 7 | 0 | 3 | 2 | 0 | 2 | 1 | 0 | 1.17e-05 | NaN | NaN | 1.17e-05 | 0.00602 |
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COSMIC analyses
In this analysis, COSMIC is used as a filter to increase power by restricting the territory of each gene. Cosmic version: v48.
Table 4. Get Full Table Significantly mutated genes (COSMIC territory only). To access the database please go to: COSMIC. Number of significant genes found: 23. Number of genes displayed: 10
| rank | gene | description | n | cos | n_cos | N_cos | cos_ev | p | q |
|---|---|---|---|---|---|---|---|---|---|
| 1 | APC | adenomatous polyposis coli | 121 | 839 | 87 | 130045 | 1536 | 0 | 0 |
| 2 | TP53 | tumor protein p53 | 77 | 824 | 77 | 127720 | 27419 | 0 | 0 |
| 3 | NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog | 15 | 33 | 13 | 5115 | 12243 | 6.7e-14 | 1e-10 |
| 4 | KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | 58 | 52 | 58 | 8060 | 650714 | 1e-13 | 1.2e-10 |
| 5 | BRAF | v-raf murine sarcoma viral oncogene homolog B1 | 21 | 89 | 19 | 13795 | 273106 | 1.6e-13 | 1.3e-10 |
| 6 | FBXW7 | F-box and WD repeat domain containing 7 | 33 | 91 | 25 | 14105 | 899 | 1.7e-13 | 1.3e-10 |
| 7 | SMAD4 | SMAD family member 4 | 21 | 159 | 13 | 24645 | 51 | 2.6e-13 | 1.7e-10 |
| 8 | PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 33 | 220 | 30 | 34100 | 11874 | 3.3e-13 | 1.9e-10 |
| 9 | ERBB3 | v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) | 11 | 6 | 5 | 930 | 5 | 7.5e-13 | 3.8e-10 |
| 10 | CDC27 | cell division cycle 27 homolog (S. cerevisiae) | 9 | 3 | 4 | 465 | 4 | 2.4e-11 | 1.1e-08 |
Note:
n - number of (nonsilent) mutations in this gene across the individual set.
cos = number of unique mutated sites in this gene in COSMIC
n_cos = overlap between n and cos.
N_cos = number of individuals times cos.
cos_ev = total evidence: number of reports in COSMIC for mutations seen in this gene.
p = p-value for seeing the observed amount of overlap in this gene)
q = q-value, False Discovery Rate (Benjamini-Hochberg procedure)
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Clustered Mutations
Table 5. Get Full Table Genes with Clustered Mutations
| num | gene | desc | n | mindist | nmuts0 | nmuts3 | nmuts12 | npairs0 | npairs3 | npairs12 |
|---|---|---|---|---|---|---|---|---|---|---|
| 6113 | KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | 58 | 0 | 959 | 1135 | 1136 | 959 | 1135 | 1136 |
| 1160 | BRAF | v-raf murine sarcoma viral oncogene homolog B1 | 21 | 0 | 171 | 171 | 171 | 171 | 171 | 171 |
| 11991 | TP53 | tumor protein p53 | 77 | 0 | 102 | 181 | 290 | 102 | 181 | 290 |
| 602 | APC | adenomatous polyposis coli | 121 | 0 | 82 | 105 | 149 | 82 | 105 | 149 |
| 8703 | PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 33 | 0 | 53 | 81 | 103 | 53 | 81 | 103 |
| 4161 | FBXW7 | F-box and WD repeat domain containing 7 | 33 | 0 | 41 | 45 | 53 | 41 | 45 | 53 |
| 7726 | NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog | 15 | 0 | 26 | 36 | 36 | 26 | 36 | 36 |
| 10803 | SMAD4 | SMAD family member 4 | 21 | 0 | 10 | 14 | 24 | 10 | 14 | 24 |
| 4004 | FAM22F | family with sequence similarity 22, member F | 8 | 0 | 10 | 10 | 10 | 10 | 10 | 10 |
| 3770 | ERBB3 | v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) | 11 | 0 | 6 | 10 | 10 | 6 | 10 | 10 |
Note:
n - number of mutations in this gene in the individual set.
mindist - distance (in aa) between closest pair of mutations in this gene
npairs3 - how many pairs of mutations are within 3 aa of each other.
npairs12 - how many pairs of mutations are within 12 aa of each other.
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Geneset Analyses
Table 6. Get Full Table A Ranked List of Significantly Mutated Genesets. (Source: MSigDB GSEA Cannonical Pathway Set).Number of significant genesets found: 156. Number of genesets displayed: 10
| rank | geneset | description | genes | N_genes | mut_tally | N | n | npat | nsite | nsil | n1 | n2 | n3 | n4 | n5 | n6 | p | q |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | HSA04310_WNT_SIGNALING_PATHWAY | Genes involved in Wnt signaling pathway | APC, APC2, AXIN1, AXIN2, BTRC, CACYBP, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CCND1, CCND2, CCND3, CER1, CHD8, CHP, CREBBP, CSNK1A1, CSNK1A1L, CSNK1E, CSNK2A1, CSNK2A2, CSNK2B, CTBP1, CTBP2, CTNNB1, CTNNBIP1, CUL1, CXXC4, DAAM1, DAAM2, DKK1, DKK2, DKK4, DVL1, DVL2, DVL3, EP300, FBXW11, FOSL1, FRAT1, FRAT2, FZD1, FZD10, FZD2, FZD3, FZD4, FZD5, FZD6, FZD7, FZD8, FZD9, GSK3B, JUN, LEF1, LOC652788, LRP5, LRP6, MAP3K7, MAPK10, MAPK8, MAPK9, MMP7, MYC, NFAT5, NFATC1, NFATC2, NFATC3, NFATC4, NKD1, NKD2, NLK, PLCB1, PLCB2, PLCB3, PLCB4, PORCN, PPARD, PPP2CA, PPP2CB, PPP2R1A, PPP2R1B, PPP2R2A, PPP2R2B, PPP2R2C, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PRICKLE1, PRICKLE2, PRKACA, PRKACB, PRKACG, PRKCA, PRKCB1, PRKCG, PRKX, PRKY, PSEN1, RAC1, RAC2, RAC3, RBX1, RHOA, ROCK1, ROCK2, RUVBL1, SENP2, SFRP1, SFRP2, SFRP4, SFRP5, SIAH1, SKP1, SMAD2, SMAD3, SMAD4, SOX17, TBL1X, TBL1XR1, TBL1Y, TCF7, TCF7L1, TCF7L2, TP53, VANGL1, VANGL2, WIF1, WNT1, WNT10A, WNT10B, WNT11, WNT16, WNT2, WNT2B, WNT3, WNT3A, WNT4, WNT5A, WNT5B, WNT6, WNT7A, WNT7B, WNT8A, WNT8B, WNT9A, WNT9B | 144 | APC(121), APC2(1), AXIN1(1), AXIN2(7), BTRC(2), CACYBP(1), CAMK2A(1), CAMK2B(2), CAMK2D(2), CAMK2G(2), CCND2(1), CCND3(1), CER1(3), CHD8(4), CREBBP(21), CSNK1A1(2), CSNK1A1L(5), CSNK2A1(4), CSNK2A2(2), CSNK2B(2), CTBP1(1), CTBP2(2), CTNNB1(8), CTNNBIP1(1), CUL1(7), CXXC4(1), DAAM1(1), DAAM2(5), DKK1(3), DKK2(5), DKK4(4), DVL2(8), DVL3(2), EP300(13), FBXW11(7), FZD10(4), FZD2(2), FZD3(10), FZD4(1), FZD6(3), FZD7(3), FZD8(1), GSK3B(7), LEF1(4), LRP5(5), LRP6(10), MAP3K7(2), MAPK10(4), MAPK8(2), MAPK9(3), MMP7(3), NFAT5(5), NFATC1(1), NFATC2(3), NFATC3(4), NFATC4(4), NKD1(3), NKD2(1), NLK(1), PLCB1(8), PLCB2(3), PLCB3(3), PLCB4(9), PORCN(2), PPARD(1), PPP2CA(1), PPP2R1A(4), PPP2R1B(1), PPP2R2A(1), PPP2R2B(1), PPP2R2C(3), PPP3CA(1), PPP3CB(4), PPP3CC(3), PPP3R1(1), PPP3R2(1), PRICKLE1(8), PRICKLE2(5), PRKACB(1), PRKACG(2), PRKCA(2), PRKCG(8), PRKX(2), PSEN1(3), RHOA(4), ROCK1(8), ROCK2(2), RUVBL1(6), SENP2(2), SFRP1(2), SFRP2(1), SFRP4(3), SFRP5(1), SIAH1(1), SKP1(1), SMAD2(11), SMAD3(6), SMAD4(21), SOX17(2), TBL1X(5), TBL1XR1(6), TCF7(3), TCF7L1(3), TCF7L2(13), TP53(77), VANGL1(2), VANGL2(5), WIF1(2), WNT1(1), WNT10B(3), WNT11(3), WNT16(2), WNT2B(1), WNT3(4), WNT3A(1), WNT4(1), WNT5A(3), WNT7A(2), WNT7B(2), WNT8A(1), WNT9A(2), WNT9B(1) | 35522515 | 631 | 150 | 557 | 121 | 207 | 110 | 8 | 124 | 147 | 35 | <1.00e-15 | <3.24e-14 |
| 2 | WNT_SIGNALING | Wnt signaling genes | APC, ARHA, AXIN1, C2orf31, CCND1, CCND2, CCND3, CSNK1E, CSNK1E, LOC400927, CTNNB1, DIPA, DVL1, DVL2, DVL3, FBXW2, FOSL1, FRAT1, FZD1, FZD10, FZD2, FZD3, FZD5, FZD6, FZD7, FZD8, FZD9, GSK3B, JUN, LDLR, MAPK10, MAPK9, MYC, PAFAH1B1, PLAU, PPP2R5C, PPP2R5E, PRKCA, PRKCB1, PRKCD, PRKCE, PRKCG, PRKCH, PRKCI, PRKCM, PRKCQ, PRKCZ, PRKD1, RAC1, RHOA, SFRP4, TCF7, WNT1, WNT10A, WNT10B, WNT11, WNT16, WNT2, WNT2B, WNT3, WNT4, WNT5A, WNT5B, WNT6, WNT7A, WNT7B | 58 | APC(121), AXIN1(1), CCND2(1), CCND3(1), CTNNB1(8), DVL2(8), DVL3(2), FBXW2(2), FZD10(4), FZD2(2), FZD3(10), FZD6(3), FZD7(3), FZD8(1), GSK3B(7), LDLR(4), MAPK10(4), MAPK9(3), PAFAH1B1(3), PLAU(2), PPP2R5C(2), PPP2R5E(2), PRKCA(2), PRKCD(3), PRKCE(4), PRKCG(8), PRKCH(2), PRKCI(4), PRKCQ(4), PRKD1(10), RHOA(4), SFRP4(3), TCF7(3), WNT1(1), WNT10B(3), WNT11(3), WNT16(2), WNT2B(1), WNT3(4), WNT4(1), WNT5A(3), WNT7A(2), WNT7B(2) | 13007053 | 263 | 129 | 225 | 48 | 68 | 34 | 3 | 45 | 79 | 34 | <1.00e-15 | <3.24e-14 |
| 3 | HSA04110_CELL_CYCLE | Genes involved in cell cycle | ABL1, ANAPC1, ANAPC10, ANAPC11, ANAPC2, ANAPC4, ANAPC5, ANAPC7, ATM, ATR, BUB1, BUB1B, BUB3, CCNA1, CCNA2, CCNB1, CCNB2, CCNB3, CCND1, CCND2, CCND3, CCNE1, CCNE2, CCNH, CDC14A, CDC14B, CDC16, CDC2, CDC20, CDC23, CDC25A, CDC25B, CDC25C, CDC26, CDC27, CDC45L, CDC6, CDC7, CDK2, CDK4, CDK6, CDK7, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CDKN2D, CHEK1, CHEK2, CREBBP, CUL1, DBF4, E2F1, E2F2, E2F3, EP300, ESPL1, FZR1, GADD45A, GADD45B, GADD45G, GSK3B, hCG_1982709, HDAC1, HDAC2, LOC440917, LOC728919, MAD1L1, MAD2L1, MAD2L2, MCM2, MCM3, MCM4, MCM5, MCM6, MCM7, MDM2, ORC1L, ORC2L, ORC3L, ORC4L, ORC5L, ORC6L, PCNA, PKMYT1, PLK1, PRKDC, PTTG1, PTTG2, RB1, RBL1, RBL2, RBX1, SFN, SKP1, SKP2, SMAD2, SMAD3, SMAD4, SMC1A, SMC1B, TFDP1, TGFB1, TGFB2, TGFB3, TP53, WEE1, YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ, YWHAZ | 108 | ABL1(4), ANAPC1(3), ANAPC10(2), ANAPC2(1), ANAPC4(1), ANAPC5(2), ANAPC7(4), ATM(27), ATR(13), BUB1(4), BUB1B(3), BUB3(2), CCNA1(4), CCNA2(3), CCNB1(2), CCNB2(2), CCNB3(4), CCND2(1), CCND3(1), CCNE1(3), CCNE2(1), CCNH(2), CDC14A(1), CDC14B(3), CDC16(3), CDC20(3), CDC23(6), CDC25A(2), CDC25B(5), CDC25C(3), CDC27(9), CDC7(2), CDK2(2), CDK4(2), CDK6(1), CDK7(1), CDKN1A(1), CDKN1B(1), CDKN2A(1), CDKN2C(1), CHEK1(1), CHEK2(1), CREBBP(21), CUL1(7), DBF4(2), E2F2(1), E2F3(1), EP300(13), ESPL1(8), GSK3B(7), HDAC1(2), HDAC2(2), MAD1L1(1), MAD2L1(1), MAD2L2(1), MCM3(1), MCM4(4), MCM5(3), MCM6(3), MCM7(2), MDM2(4), ORC1L(1), ORC3L(1), ORC4L(1), ORC5L(1), PCNA(2), PKMYT1(1), PLK1(6), PRKDC(13), PTTG1(1), RB1(4), RBL1(3), RBL2(8), SKP1(1), SKP2(1), SMAD2(11), SMAD3(6), SMAD4(21), SMC1A(10), SMC1B(4), TFDP1(4), TGFB1(1), TGFB2(5), TP53(77), WEE1(3), YWHAB(2), YWHAE(3), YWHAQ(1) | 30252673 | 414 | 127 | 377 | 73 | 128 | 89 | 8 | 105 | 81 | 3 | <1.00e-15 | <3.24e-14 |
| 4 | HSA04210_APOPTOSIS | Genes involved in apoptosis | AIFM1, AKT1, AKT2, AKT3, APAF1, ATM, BAD, BAX, BCL2, BCL2L1, BID, BIRC2, BIRC3, BIRC4, CAPN1, CAPN2, CASP10, CASP3, CASP6, CASP7, CASP8, CASP9, CFLAR, CHP, CHUK, CSF2RB, CYCS, DFFA, DFFB, ENDOG, FADD, FAS, FASLG, IKBKB, IKBKG, IL1A, IL1B, IL1R1, IL1RAP, IL3, IL3RA, IRAK1, IRAK2, IRAK3, IRAK4, MAP3K14, MYD88, NFKB1, NFKB2, NFKBIA, NGFB, NTRK1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PRKACA, PRKACB, PRKACG, PRKAR1A, PRKAR1B, PRKAR2A, PRKAR2B, RELA, RIPK1, TNF, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF1A, TNFSF10, TP53, TRADD, TRAF2 | 80 | AIFM1(1), AKT1(2), AKT2(5), APAF1(7), ATM(27), BAD(1), BAX(1), BCL2(1), BCL2L1(1), BID(1), BIRC2(2), BIRC3(2), CAPN1(2), CAPN2(5), CASP10(2), CASP3(1), CASP6(1), CASP7(1), CASP8(11), CASP9(2), CFLAR(2), CHUK(4), CSF2RB(7), DFFA(2), DFFB(2), FASLG(1), IKBKB(2), IL1A(1), IL1R1(3), IL3(3), IRAK1(1), IRAK2(8), IRAK3(1), IRAK4(2), MAP3K14(2), MYD88(1), NFKB1(3), NFKB2(2), NTRK1(6), PIK3CA(33), PIK3CB(2), PIK3CD(2), PIK3CG(12), PIK3R1(5), PIK3R2(1), PIK3R5(1), PPP3CA(1), PPP3CB(4), PPP3CC(3), PPP3R1(1), PPP3R2(1), PRKACB(1), PRKACG(2), PRKAR1A(1), PRKAR1B(1), PRKAR2B(2), RELA(2), RIPK1(2), TNFRSF10A(3), TNFRSF10B(2), TNFRSF10C(6), TNFRSF1A(1), TNFSF10(1), TP53(77), TRADD(1), TRAF2(1) | 18529387 | 298 | 127 | 250 | 48 | 91 | 71 | 6 | 74 | 55 | 1 | <1.00e-15 | <3.24e-14 |
| 5 | ALKPATHWAY | Activin receptor-like kinase 3 (ALK3) is required during gestation for cardiac muscle development. | ACVR1, APC, ATF2, AXIN1, BMP10, BMP2, BMP4, BMP5, BMP7, BMPR1A, BMPR2, CHRD, CTNNB1, DVL1, FZD1, GATA4, GSK3B, MADH1, MADH4, MADH5, MADH6, MAP3K7, MEF2C, MYL2, NKX2-5, NOG, NPPA, NPPB, RFC1, TCF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, WNT1 | 32 | ACVR1(3), APC(121), AXIN1(1), BMP10(2), BMP4(1), BMP5(4), BMP7(5), BMPR1A(4), BMPR2(7), CHRD(5), CTNNB1(8), GATA4(1), GSK3B(7), MAP3K7(2), MEF2C(7), MYL2(1), NKX2-5(1), NPPA(1), RFC1(10), TGFB1(1), TGFB2(5), TGFBR1(6), TGFBR2(7), TGFBR3(5), WNT1(1) | 7996440 | 216 | 126 | 179 | 31 | 37 | 23 | 2 | 37 | 83 | 34 | <1.00e-15 | <3.24e-14 |
| 6 | ST_WNT_BETA_CATENIN_PATHWAY | Beta-catenin is degraded in the absence of Wnt signaling; when extracellular Wnt binds Frizzled receptors, beta-catenin accumulates in the nucleus and may promote cell survival. | AKT1, AKT2, AKT3, ANKRD6, APC, AXIN1, AXIN2, C22orf2, CER1, CSNK1A1, CTNNB1, DACT1, DKK1, DKK2, DKK3, DKK4, DVL1, FRAT1, FSTL1, GSK3A, GSK3B, IDAX, LAMR1, LRP1, MVP, NKD1, NKD2, PIN1, PSEN1, PTPRA, SENP2, SFRP1, TSHB, WIF1 | 30 | AKT1(2), AKT2(5), ANKRD6(5), APC(121), AXIN1(1), AXIN2(7), CER1(3), CSNK1A1(2), CTNNB1(8), DACT1(5), DKK1(3), DKK2(5), DKK3(2), DKK4(4), FSTL1(5), GSK3A(2), GSK3B(7), LRP1(14), MVP(4), NKD1(3), NKD2(1), PIN1(1), PSEN1(3), PTPRA(2), SENP2(2), SFRP1(2), WIF1(2) | 8848505 | 221 | 126 | 184 | 33 | 52 | 22 | 4 | 32 | 77 | 34 | <1.00e-15 | <3.24e-14 |
| 7 | GSK3PATHWAY | Bacterial lipopolysaccharide activates AKT to promote the survival and activation of macrophages and inhibits Gsk3-beta to promote beta-catenin accumulation in the nucleus. | AKT1, APC, AXIN1, CCND1, CD14, CTNNB1, DVL1, FZD1, GJA1, GNAI1, GSK3B, IRAK1, LBP, LEF1, LY96, MYD88, NFKB1, PDPK1, PIK3CA, PIK3R1, PPP2CA, PRKR, RELA, TIRAP, TLR4, TOLLIP, WNT1 | 26 | AKT1(2), APC(121), AXIN1(1), CD14(1), CTNNB1(8), GJA1(3), GNAI1(3), GSK3B(7), IRAK1(1), LBP(1), LEF1(4), LY96(2), MYD88(1), NFKB1(3), PDPK1(1), PIK3CA(33), PIK3R1(5), PPP2CA(1), RELA(2), TIRAP(1), TLR4(7), TOLLIP(1), WNT1(1) | 6608775 | 210 | 123 | 159 | 24 | 32 | 36 | 4 | 29 | 75 | 34 | <1.00e-15 | <3.24e-14 |
| 8 | HSA04540_GAP_JUNCTION | Genes involved in gap junction | ADCY1, ADCY2, ADCY3, ADCY4, ADCY5, ADCY6, ADCY7, ADCY8, ADCY9, ADRB1, CDC2, CSNK1D, DRD1, DRD2, EDG2, EGF, EGFR, GJA1, GJD2, GNA11, GNAI1, GNAI2, GNAI3, GNAQ, GNAS, GRB2, GRM1, GRM5, GUCY1A2, GUCY1A3, GUCY1B3, GUCY2C, GUCY2D, GUCY2F, HRAS, HTR2A, HTR2B, HTR2C, ITPR1, ITPR2, ITPR3, KRAS, LOC643224, LOC654264, MAP2K1, MAP2K2, MAP2K5, MAP3K2, MAPK1, MAPK3, MAPK7, NPR1, NPR2, NRAS, PDGFA, PDGFB, PDGFC, PDGFD, PDGFRA, PDGFRB, PLCB1, PLCB2, PLCB3, PLCB4, PRKACA, PRKACB, PRKACG, PRKCA, PRKCB1, PRKCG, PRKG1, PRKG2, PRKX, PRKY, RAF1, SOS1, SOS2, SRC, TJP1, TUBA1A, TUBA1B, TUBA1C, TUBA3C, TUBA3D, TUBA3E, TUBA4A, TUBA8, TUBAL3, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB2C, TUBB3, TUBB4, TUBB4Q, TUBB6, TUBB8 | 92 | ADCY1(4), ADCY2(12), ADCY3(1), ADCY4(9), ADCY5(8), ADCY6(1), ADCY7(3), ADCY8(11), ADCY9(4), ADRB1(2), CSNK1D(3), DRD1(1), DRD2(3), EGF(3), EGFR(10), GJA1(3), GNA11(1), GNAI1(3), GNAQ(3), GNAS(6), GRB2(2), GRM1(9), GRM5(8), GUCY1A2(8), GUCY1A3(12), GUCY1B3(7), GUCY2C(7), GUCY2D(4), GUCY2F(7), HTR2A(2), HTR2B(1), HTR2C(6), ITPR1(11), ITPR2(12), ITPR3(11), KRAS(58), MAP2K1(3), MAP2K5(2), MAP3K2(2), MAPK1(2), MAPK3(2), MAPK7(3), NPR1(6), NPR2(9), NRAS(15), PDGFA(1), PDGFC(2), PDGFD(3), PDGFRA(13), PDGFRB(5), PLCB1(8), PLCB2(3), PLCB3(3), PLCB4(9), PRKACB(1), PRKACG(2), PRKCA(2), PRKCG(8), PRKG1(4), PRKG2(3), PRKX(2), RAF1(4), SOS1(5), SOS2(9), SRC(3), TJP1(5), TUBA3C(9), TUBA3D(2), TUBA3E(4), TUBA4A(1), TUBA8(1), TUBAL3(3), TUBB(1), TUBB1(2), TUBB2A(1), TUBB2B(3), TUBB3(1), TUBB4(2), TUBB4Q(2), TUBB6(3), TUBB8(2) | 28826153 | 432 | 123 | 372 | 142 | 154 | 105 | 11 | 133 | 28 | 1 | <1.00e-15 | <3.24e-14 |
| 9 | ST_MYOCYTE_AD_PATHWAY | Cardiac myocytes have a variety of adrenergic receptors that induce subtype-specific signaling effects. | ADRB1, AKT1, APC, ASAH1, BF, CAMP, CAV3, DAG1, DLG4, EPHB2, GAS, GNAI1, GNAQ, HTATIP, ITPR1, ITPR2, ITPR3, KCNJ3, KCNJ5, KCNJ9, MAPK1, PITX2, PLB, PTX1, PTX3, RAC1, RHO, RYR1 | 23 | ADRB1(2), AKT1(2), APC(121), ASAH1(3), CAV3(2), DAG1(4), DLG4(2), EPHB2(7), GNAI1(3), GNAQ(3), ITPR1(11), ITPR2(12), ITPR3(11), KCNJ3(6), KCNJ5(3), KCNJ9(2), MAPK1(2), PITX2(2), PTX3(2), RHO(2), RYR1(19) | 9853585 | 221 | 123 | 184 | 49 | 55 | 22 | 5 | 33 | 72 | 34 | <1.00e-15 | <3.24e-14 |
| 10 | WNTPATHWAY | The Wnt glycoprotein binds to membrane-bound receptors such as Frizzled to activate a number of signaling pathways, including that of beta-catenin. | APC, AXIN1, BTRC, CCND1, CREBBP, CSNK1A1, CSNK1D, CSNK2A1, CTBP1, CTNNB1, DVL1, FRAT1, FZD1, GSK3B, HDAC1, MADH4, MAP3K7, MAP3K7IP1, MYC, NLK, PPARD, PPP2CA, TCF1, TLE1, WIF1, WNT1 | 22 | APC(121), AXIN1(1), BTRC(2), CREBBP(21), CSNK1A1(2), CSNK1D(3), CSNK2A1(4), CTBP1(1), CTNNB1(8), GSK3B(7), HDAC1(2), MAP3K7(2), NLK(1), PPARD(1), PPP2CA(1), TLE1(1), WIF1(2), WNT1(1) | 6371845 | 181 | 120 | 145 | 22 | 26 | 21 | 2 | 24 | 74 | 34 | <1.00e-15 | <3.24e-14 |
Table 7. Get Full Table A Ranked List of Significantly Mutated Genesets (Excluding Significantly Mutated Genes). Number of significant genesets found: 0. Number of genesets displayed: 10
| rank | geneset | description | genes | N_genes | mut_tally | N | n | npat | nsite | nsil | n1 | n2 | n3 | n4 | n5 | n6 | p | q |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | EOSINOPHILSPATHWAY | Recruitment of eosinophils in the inflammatory response observed in asthma occurs via the chemoattractant eotaxin binding to the CCR3 receptor. | CCL11, CCL5, CCR3, CSF2, HLA-DRA, HLA-DRB1, IL3, IL5 | 8 | CCR3(3), HLA-DRA(4), HLA-DRB1(1), IL3(3) | 661548 | 11 | 11 | 10 | 2 | 5 | 1 | 0 | 3 | 0 | 2 | 0.0017 | 0.52 |
| 2 | TGFBPATHWAY | The TGF-beta receptor responds to ligand binding by activating the SMAD family of transcriptional regulations, commonly blocking cell growth. | APC, CDH1, CREBBP, EP300, MADH2, MADH3, MADH4, MADH7, MADHIP, MAP2K1, MAP3K7, MAP3K7IP1, MAPK3, SKIL, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2 | 12 | CDH1(4), CREBBP(21), EP300(13), MAP2K1(3), MAP3K7(2), MAPK3(2), TGFB1(1), TGFB2(5), TGFBR1(6), TGFBR2(7) | 4534604 | 64 | 37 | 63 | 17 | 24 | 20 | 3 | 7 | 10 | 0 | 0.0026 | 0.52 |
| 3 | PITX2PATHWAY | The bicoid-related transcription factor Pitx2 is activated by Wnt binding to the Frizzled receptor and induces tissue-specific cell proliferation. | APC, AXIN1, CREBBP, CTNNB1, DVL1, EP300, FZD1, GSK3B, HDAC1, HTATIP, LDB1, LEF1, PITX2, PPARBP, TRRAP, WNT1 | 13 | AXIN1(1), CREBBP(21), CTNNB1(8), EP300(13), GSK3B(7), HDAC1(2), LDB1(3), LEF1(4), PITX2(2), TRRAP(17), WNT1(1) | 6009423 | 79 | 46 | 78 | 21 | 33 | 25 | 1 | 8 | 12 | 0 | 0.0028 | 0.52 |
| 4 | HSA04080_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION | Genes involved in neuroactive ligand-receptor interaction | ADCYAP1R1, ADORA1, ADORA2A, ADORA2B, ADORA3, ADRA1A, ADRA1B, ADRA2A, ADRA2B, ADRA2C, ADRB1, ADRB2, ADRB3, AGTR1, AGTR2, AGTRL1, AVPR1A, AVPR1B, AVPR2, BDKRB1, BDKRB2, BRS3, C3AR1, C5AR1, CALCR, CALCRL, CCKAR, CCKBR, CGA, CHRM1, CHRM2, CHRM3, CHRM4, CHRM5, CNR1, CNR2, CRHR1, CRHR2, CTSG, CYSLTR1, CYSLTR2, DRD1, DRD2, DRD3, DRD4, DRD5, EDG1, EDG2, EDG3, EDG4, EDG5, EDG6, EDG7, EDG8, EDNRA, EDNRB, F2, F2R, F2RL1, F2RL2, F2RL3, FPR1, FPRL1, FPRL2, FSHB, FSHR, GABBR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ, GABRR1, GABRR2, GALR1, GALR2, GALR3, GCGR, GH1, GH2, GHR, GHRHR, GHSR, GIPR, GLP1R, GLP2R, GLRA1, GLRA2, GLRA3, GLRB, GNRHR, GPR156, GPR23, GPR35, GPR50, GPR63, GPR83, GRIA1, GRIA2, GRIA3, GRIA4, GRID1, GRID2, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D, GRIN3A, GRIN3B, GRM1, GRM2, GRM3, GRM4, GRM5, GRM6, GRM7, GRM8, GRPR, GZMA, HCRTR1, HCRTR2, HRH1, HRH2, HRH3, HRH4, HTR1A, HTR1B, HTR1D, HTR1E, HTR1F, HTR2A, HTR2B, HTR2C, HTR4, HTR5A, HTR6, HTR7, KISS1R, LEP, LEPR, LHB, LHCGR, LTB4R, LTB4R2, MAS1, MC1R, MC2R, MC3R, MC4R, MC5R, MCHR1, MCHR2, MLNR, MTNR1A, MTNR1B, NMBR, NMUR1, NMUR2, NPBWR1, NPBWR2, NPFFR1, NPFFR2, NPY1R, NPY2R, NPY5R, NR3C1, NTSR1, NTSR2, OPRD1, OPRK1, OPRL1, OPRM1, OXTR, P2RX1, P2RX2, P2RX3, P2RX4, P2RX5, P2RX7, P2RXL1, P2RY1, P2RY10, P2RY11, P2RY13, P2RY14, P2RY2, P2RY4, P2RY5, P2RY6, P2RY8, PARD3, PPYR1, PRL, PRLHR, PRLR, PRSS1, PRSS2, PRSS3, PTAFR, PTGDR, PTGER1, PTGER2, PTGER3, PTGER4, PTGFR, PTGIR, PTH2R, PTHR1, RXFP1, RXFP2, SCTR, SSTR1, SSTR2, SSTR3, SSTR4, SSTR5, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TACR1, TACR2, TACR3, TBXA2R, THRA, THRB, TRHR, TRPV1, TSHB, TSHR, TSPO, UTS2R, VIPR1, VIPR2 | 231 | ADCYAP1R1(1), ADORA1(5), ADORA2A(3), ADORA2B(1), ADORA3(3), ADRA1A(5), ADRA1B(4), ADRA2A(3), ADRB1(2), ADRB3(1), AGTR1(3), AGTR2(4), AVPR1A(3), AVPR1B(3), AVPR2(6), BDKRB2(2), BRS3(1), C3AR1(2), C5AR1(2), CALCR(3), CALCRL(5), CCKAR(1), CCKBR(3), CGA(1), CHRM1(3), CHRM3(4), CHRM5(1), CNR1(3), CRHR1(1), CRHR2(4), CTSG(2), CYSLTR1(3), CYSLTR2(3), DRD1(1), DRD2(3), DRD3(3), DRD5(2), EDNRA(4), EDNRB(7), F2(2), F2RL2(2), FPR1(2), FSHB(1), FSHR(6), GABBR1(4), GABBR2(3), GABRA1(2), GABRA2(6), GABRA3(4), GABRA4(6), GABRA6(4), GABRB1(6), GABRB2(4), GABRB3(5), GABRE(5), GABRG1(7), GABRG2(8), GABRG3(5), GABRP(2), GABRQ(7), GABRR1(2), GABRR2(3), GALR1(1), GH1(1), GH2(1), GHR(6), GHRHR(2), GHSR(5), GLP1R(2), GLP2R(3), GLRA1(2), GLRA2(2), GLRA3(7), GLRB(6), GNRHR(4), GPR156(6), GPR50(5), GPR63(2), GPR83(1), GRIA2(10), GRIA3(5), GRIA4(12), GRID1(15), GRID2(10), GRIK1(5), GRIK2(10), GRIK4(11), GRIK5(5), GRIN1(1), GRIN2A(15), GRIN2B(8), GRIN2C(2), GRIN2D(3), GRIN3A(3), GRM1(9), GRM2(3), GRM3(5), GRM4(7), GRM5(8), GRM6(9), GRM7(8), GRM8(7), GRPR(3), GZMA(2), HCRTR1(1), HCRTR2(1), HRH1(1), HRH2(4), HRH4(2), HTR1A(3), HTR1B(3), HTR1D(2), HTR1E(5), HTR1F(2), HTR2A(2), HTR2B(1), HTR2C(6), HTR4(2), HTR5A(2), HTR7(6), LEP(1), LEPR(5), LHB(1), LHCGR(4), MAS1(1), MC2R(2), MC3R(1), MC4R(3), MC5R(4), MCHR1(6), MCHR2(2), MLNR(3), MTNR1B(3), NMUR1(4), NMUR2(6), NPBWR1(3), NPFFR2(3), NPY1R(4), NPY2R(5), NPY5R(1), NR3C1(3), NTSR1(1), NTSR2(4), OPRD1(1), OPRK1(5), OPRM1(1), OXTR(2), P2RX1(1), P2RX2(1), P2RX3(2), P2RX4(2), P2RX5(1), P2RX7(2), P2RY1(3), P2RY10(6), P2RY13(2), P2RY14(4), P2RY2(2), P2RY4(6), PARD3(5), PPYR1(1), PRL(2), PRLR(2), PRSS1(3), PRSS2(1), PRSS3(4), PTAFR(1), PTGER2(1), PTGER3(6), PTGFR(6), PTGIR(1), PTH2R(6), RXFP1(2), RXFP2(8), SCTR(3), SSTR1(4), SSTR2(2), SSTR4(2), TAAR1(3), TAAR2(2), TAAR5(5), TAAR6(2), TAAR8(1), TAAR9(1), TACR1(2), TACR2(1), TACR3(4), THRA(2), THRB(4), TRHR(6), TRPV1(3), TSHR(6), VIPR1(3), VIPR2(3) | 47949907 | 701 | 117 | 698 | 266 | 270 | 150 | 15 | 208 | 58 | 0 | 0.0034 | 0.52 |
| 5 | CTLA4PATHWAY | T cell activation requires interaction with an antigen-MHC-I complex on an antigen-presenting cell (APC), as well as CD28 interaction with the APC's CD80 or 86. | CD28, CD3D, CD3E, CD3G, CD3Z, CD80, CD86, CTLA4, GRB2, HLA-DRA, HLA-DRB1, ICOS, ICOSL, IL2, ITK, LCK, PIK3CA, PIK3R1, PTPN11, TRA@, TRB@ | 16 | CD28(1), CD3D(1), CD3G(2), CTLA4(1), GRB2(2), HLA-DRA(4), HLA-DRB1(1), ICOS(1), IL2(3), ITK(8), LCK(2), PIK3R1(5), PTPN11(2) | 2385350 | 33 | 23 | 32 | 7 | 7 | 9 | 2 | 8 | 5 | 2 | 0.0044 | 0.53 |
| 6 | 1_AND_2_METHYLNAPHTHALENE_DEGRADATION | ADH1A, ADH1A, ADH1B, ADH1C, ADH1B, ADH1C, ADH4, ADH6, ADH7, ADHFE1 | 7 | ADH1B(2), ADH1C(3), ADH4(1), ADH6(5), ADH7(2), ADHFE1(6) | 1229065 | 19 | 16 | 19 | 5 | 3 | 4 | 1 | 11 | 0 | 0 | 0.0074 | 0.53 | |
| 7 | FLUMAZENILPATHWAY | Flumazenil is a benzodiazepine receptor antagonist that may induce protective preconditioning in ischemic cardiomyocytes. | GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GPX1, PRKCE, SOD1 | 8 | GABRA1(2), GABRA2(6), GABRA3(4), GABRA4(6), GABRA6(4), GPX1(1), PRKCE(4) | 1520965 | 27 | 19 | 27 | 5 | 9 | 5 | 0 | 10 | 3 | 0 | 0.0075 | 0.53 |
| 8 | CCR3PATHWAY | CCR3 is a G-protein coupled receptor that recruits eosinophils to inflammation sites via chemokine ligands. | ARHA, CCL11, CCR3, CFL1, GNAQ, GNAS, GNB1, GNGT1, HRAS, LIMK1, MAP2K1, MAPK1, MAPK3, MYL2, NOX1, PIK3C2G, PLCB1, PPP1R12B, PRKCA, PRKCB1, PTK2, RAF1, ROCK2 | 21 | CCR3(3), CFL1(1), GNAQ(3), GNAS(6), GNB1(1), LIMK1(4), MAP2K1(3), MAPK1(2), MAPK3(2), MYL2(1), NOX1(1), PIK3C2G(7), PLCB1(8), PPP1R12B(5), PRKCA(2), PTK2(5), RAF1(4), ROCK2(2) | 5505383 | 60 | 39 | 58 | 11 | 24 | 8 | 2 | 17 | 9 | 0 | 0.0078 | 0.53 |
| 9 | ALKPATHWAY | Activin receptor-like kinase 3 (ALK3) is required during gestation for cardiac muscle development. | ACVR1, APC, ATF2, AXIN1, BMP10, BMP2, BMP4, BMP5, BMP7, BMPR1A, BMPR2, CHRD, CTNNB1, DVL1, FZD1, GATA4, GSK3B, MADH1, MADH4, MADH5, MADH6, MAP3K7, MEF2C, MYL2, NKX2-5, NOG, NPPA, NPPB, RFC1, TCF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, WNT1 | 31 | ACVR1(3), AXIN1(1), BMP10(2), BMP4(1), BMP5(4), BMP7(5), BMPR1A(4), BMPR2(7), CHRD(5), CTNNB1(8), GATA4(1), GSK3B(7), MAP3K7(2), MEF2C(7), MYL2(1), NKX2-5(1), NPPA(1), RFC1(10), TGFB1(1), TGFB2(5), TGFBR1(6), TGFBR2(7), TGFBR3(5), WNT1(1) | 6681664 | 95 | 45 | 94 | 27 | 32 | 17 | 1 | 26 | 19 | 0 | 0.0083 | 0.53 |
| 10 | GPCRDB_CLASS_A_RHODOPSIN_LIKE | ADORA1, ADORA2A, ADORA2B, ADORA3, ADRA1A, ADRA1B, ADRA1D, ADRA2A, ADRA2C, ADRB1, ADRB2, ADRB3, AGTR1, AGTR2, AGTRL1, AVPR1A, AVPR1B, AVPR2, BDKRB1, BDKRB2, BLR1, BRS3, C3AR1, C5R1, CCBP2, CCKAR, CCKBR, CCR1, CCR10, CCR2, CCR3, CCR4, CCR5, CCR6, CCR7, CCR8, CCR9, CCRL1, CCRL2, CHML, CHRM1, CHRM2, CHRM3, CHRM4, CHRM5, CMKLR1, CMKOR1, CNR1, CNR2, CX3CR1, CXCR3, CXCR4, DRD1, DRD2, DRD3, DRD4, DRD5, EDNRA, EDNRB, ELA3A, F2R, F2RL1, F2RL2, F2RL3, FPR1, FPRL1, FPRL2, FSHR, GALR1, GALR2, GALR3, GALT, GHSR, GNB2L1, GPR10, GPR147, GPR17, GPR173, GPR174, GPR23, GPR24, GPR27, GPR3, GPR30, GPR35, GPR37, GPR37L1, GPR4, GPR44, GPR50, GPR6, GPR63, GPR74, GPR77, GPR83, GPR85, GPR87, GPR92, GRPR, HCRTR1, HCRTR2, HRH1, HRH2, HRH3, HTR1A, HTR1B, HTR1D, HTR1E, HTR1F, HTR2A, HTR2B, HTR2C, HTR4, HTR5A, HTR6, HTR7, HTR7, LOC93164, IL8RA, IL8RB, LHCGR, LTB4R, MAS1, MC1R, MC3R, MC4R, MC5R, MLNR, MTNR1A, MTNR1B, NMBR, NMUR1, NMUR2, NPY1R, NPY2R, NPY5R, NPY6R, NTSR1, NTSR2, OPN1SW, OPN3, OPRD1, OPRK1, OPRL1, OPRM1, OR10A5, OR11A1, OR12D3, OR1C1, OR1F1, OR1Q1, OR2H1, OR5V1, OR5V1, OR12D3, OR7A5, OR7C1, OR8B8, OXTR, P2RY1, P2RY10, P2RY11, P2RY12, P2RY13, P2RY14, P2RY2, P2RY5, P2RY6, PPYR1, PTAFR, PTGDR, PTGER1, PTGER2, PTGER4, PTGFR, PTGIR, Rgr, RGR, RHO, RRH, SSTR1, SSTR2, SSTR3, SSTR4, SUCNR1, TBXA2R, TRHR | 161 | ADORA1(5), ADORA2A(3), ADORA2B(1), ADORA3(3), ADRA1A(5), ADRA1B(4), ADRA1D(2), ADRA2A(3), ADRB1(2), ADRB3(1), AGTR1(3), AGTR2(4), AVPR1A(3), AVPR1B(3), AVPR2(6), BDKRB2(2), BRS3(1), C3AR1(2), CCBP2(5), CCKAR(1), CCKBR(3), CCR1(5), CCR3(3), CCR5(1), CCR6(2), CCR7(1), CCR8(4), CCR9(4), CCRL1(2), CHML(4), CHRM1(3), CHRM3(4), CHRM5(1), CMKLR1(2), CNR1(3), CX3CR1(1), CXCR4(3), DRD1(1), DRD2(3), DRD3(3), DRD5(2), EDNRA(4), EDNRB(7), F2RL2(2), FPR1(2), FSHR(6), GALR1(1), GALT(2), GHSR(5), GPR17(1), GPR173(2), GPR174(2), GPR37(6), GPR37L1(3), GPR4(1), GPR50(5), GPR6(5), GPR63(2), GPR77(1), GPR83(1), GPR85(1), GPR87(4), GRPR(3), HCRTR1(1), HCRTR2(1), HRH1(1), HRH2(4), HTR1A(3), HTR1B(3), HTR1D(2), HTR1E(5), HTR1F(2), HTR2A(2), HTR2B(1), HTR2C(6), HTR4(2), HTR5A(2), HTR7(6), LHCGR(4), MAS1(1), MC3R(1), MC4R(3), MC5R(4), MLNR(3), MTNR1B(3), NMUR1(4), NMUR2(6), NPY1R(4), NPY2R(5), NPY5R(1), NTSR1(1), NTSR2(4), OPN1SW(3), OPN3(1), OPRD1(1), OPRK1(5), OPRM1(1), OR12D3(1), OR1C1(1), OR1F1(2), OR2H1(3), OR5V1(2), OR7A5(3), OR8B8(2), OXTR(2), P2RY1(3), P2RY10(6), P2RY12(3), P2RY13(2), P2RY14(4), P2RY2(2), PPYR1(1), PTAFR(1), PTGER2(1), PTGFR(6), PTGIR(1), RGR(2), RHO(2), RRH(2), SSTR1(4), SSTR2(2), SSTR4(2), TRHR(6) | 26088640 | 342 | 93 | 343 | 123 | 142 | 81 | 5 | 88 | 26 | 0 | 0.0089 | 0.53 |
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Methods & Data
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Methods
In brief, we tabulate the number of mutations and the number of covered bases for each gene. The counts are broken down by mutation context category: four context categories that are discovered by MutSig, and one for indel and 'null' mutations, which include indels, nonsense mutations, splice-site mutations, and non-stop (read-through) mutations. For each gene, we calculate the probability of seeing the observed constellation of mutations, i.e. the product P1 x P2 x ... x Pm, or a more extreme one, given the background mutation rates calculated across the dataset. [1]
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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.
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References
[1] TCGA, Integrated genomic analyses of ovarian carcinoma, Nature 474:609 - 615 (2011)
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Broad Institute TCGA GDAC as part of the TCGA Research Network.
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