Acute Myeloid Leukemia: Mutation Analysis (MutSig)
Maintained by Dan DiCara (Broad Institute)
Overview
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.

Working with individual set: LAML.

Number of patients in set: 199

Input

The input for this pipeline is a set of individuals with the following files associated for each:

1. An annotated .maf file describing the mutations called for the respective individual, and their properties.

2. A .wig file that contains information about the coverage of the sample.

Summary

Significantly mutated genes (q ≤ 0.1): 68

Mutations seen in COSMIC: 234

Significantly mutated genes in COSMIC territory: 18

Genes with clustered mutations (&le 3 aa apart): 32

Significantly mutated genesets: 71

Significantly mutated genesets: (excluding sig. mutated genes): 1

Results
Breakdown of Mutations by Type

Table 1.  Get Full Table Table representing breakdown of mutations by type.

type count
Frame_Shift_Del 103
Frame_Shift_Ins 119
In_Frame_Del 100
In_Frame_Ins 59
Missense_Mutation 2725
Nonsense_Mutation 191
Nonstop_Mutation 2
Silent 1072
Splice_Site 105
Total 4476
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 801 275075312 2.9e-06 2.9 4.7
*Cp(A/C/T)->T 690 2493147819 2.8e-07 0.28 0.45
A->G 365 2773129874 1.3e-07 0.13 0.21
transver 869 5541353005 1.6e-07 0.16 0.26
indel+null 670 5541353204 1.2e-07 0.12 0.2
double_null 9 5541353204 1.6e-09 0.0016 0.0026
Total 3404 5541353204 6.1e-07 0.61 1
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. 

Distribution of Mutation Counts, Coverage, and Mutation Rates Across Samples

Figure 2. 

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.

Significantly Mutated Genes

Table 3.  Get Full Table A Ranked List of Significantly Mutated Genes. Number of significant genes found: 68. Number of genes displayed: 35

rank gene description N n npat nsite nsil n1 n2 n3 n4 n5 n6 p_classic p_ks p_cons p_joint p q
1 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 254123 20 20 2 0 18 0 0 2 0 0 <1.00e-15 2e-07 0.97 0.000011 <0.00 <0.00
2 U2AF1 U2 small nuclear RNA auxiliary factor 1 154822 10 10 3 0 0 6 0 4 0 0 <1.00e-15 0.000026 0.0093 0.000014 <0.00 <0.00
3 TET2 tet oncogene family member 2 696898 17 15 17 0 0 1 0 2 9 5 <1.00e-15 1 0.0015 0.006 <2.22e-16 <9.59e-13
4 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 140693 9 9 5 0 0 4 1 4 0 0 <1.00e-15 0.0048 0.2 0.0052 <2.22e-16 <9.59e-13
5 RUNX1 runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) 146663 19 17 16 0 1 3 2 3 9 1 <1.00e-15 0.015 0.12 0.015 <5.55e-16 <1.44e-12
6 WT1 Wilms tumor 1 166364 13 13 9 0 1 1 0 0 10 1 <1.00e-15 0.0086 1 0.019 <7.77e-16 <1.44e-12
7 FLT3 fms-related tyrosine kinase 3 603169 53 52 29 0 0 1 1 16 35 0 3.00e-15 2e-07 2e-07 0 <1.00e-15 <1.44e-12
8 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 517997 55 50 28 0 33 2 2 4 14 0 <1.00e-15 2e-07 2e-07 0 <1.00e-15 <1.44e-12
9 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 185269 47 47 1 0 0 0 0 0 47 0 <1.00e-15 2e-07 2e-07 0 <1.00e-15 <1.44e-12
10 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 232631 20 20 2 0 16 3 0 1 0 0 2.55e-15 2e-07 0.62 0 <1.00e-15 <1.44e-12
11 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 116614 18 18 6 0 0 9 1 8 0 0 2.22e-15 2e-07 0.13 0 <1.00e-15 <1.44e-12
12 OR5H6 olfactory receptor, family 5, subfamily H, member 6 195418 4 4 1 2 0 0 0 0 4 0 3.16e-08 4e-07 0.034 0 <1.00e-15 <1.44e-12
13 TP53 tumor protein p53 260889 15 11 15 1 3 2 4 1 5 0 2.00e-15 0.0074 0.18 0.02 1.55e-15 2.07e-12
14 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 591229 8 7 5 0 1 0 0 5 2 0 1.57e-11 0.011 0.024 0.0079 3.83e-12 4.72e-09
15 AP3S1 adaptor-related protein complex 3, sigma 1 subunit 106067 3 3 1 0 0 0 0 0 3 0 3.98e-07 2.8e-06 0.12 8e-07 9.48e-12 1.08e-08
16 PHF6 PHD finger protein 6 246561 6 6 6 0 0 1 0 1 4 0 1.97e-12 0.47 0.067 0.17 9.98e-12 1.08e-08
17 SCRN3 secernin 3 259297 3 3 1 0 0 0 0 0 3 0 5.78e-07 8e-07 0.93 1.4e-06 2.33e-11 2.37e-08
18 MPRIP 375911 3 3 1 0 0 0 0 0 3 0 5.36e-06 2e-07 1 2e-07 3.06e-11 2.94e-08
19 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 205567 4 4 1 0 0 4 0 0 0 0 3.65e-06 4e-07 1 5.8e-06 5.41e-10 4.92e-07
20 PTPN11 protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1) 362976 7 7 6 0 0 3 1 3 0 0 5.42e-10 0.075 0.13 0.077 1.04e-09 8.95e-07
21 ETV6 ets variant gene 6 (TEL oncogene) 276809 5 5 5 0 0 0 1 1 3 0 1.06e-09 0.083 0.067 0.049 1.28e-09 1.05e-06
22 NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 380488 3 3 1 0 0 0 0 0 3 0 5.28e-06 0.000034 0.71 0.000034 4.21e-09 3.30e-06
23 LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 268252 3 3 1 1 0 0 0 3 0 0 0.000061 1.2e-06 0.71 4.6e-06 6.44e-09 4.83e-06
24 C17orf97 168553 5 5 4 1 0 0 1 4 0 0 1.12e-08 0.22 0.99 0.47 1.05e-07 0.000075
25 ZNF626 zinc finger protein 626 326559 2 2 1 0 0 0 0 0 2 0 0.00039 0.0006 0.00048 2e-05 1.55e-07 0.00011
26 MUC4 mucin 4, cell surface associated 1002562 10 7 8 6 1 0 1 5 3 0 2.21e-08 0.99 0.87 1 4.11e-07 0.00027
27 SMC3 structural maintenance of chromosomes 3 746449 6 6 6 0 1 1 1 1 2 0 3.18e-08 0.79 0.29 0.83 4.89e-07 0.00031
28 ARSD arylsulfatase D 356608 2 2 1 0 0 0 0 2 0 0 0.011 0.00073 0.000078 3e-06 6.10e-07 0.00038
29 NOTCH2NL Notch homolog 2 (Drosophila) N-terminal like 144673 3 3 2 0 0 0 0 0 3 0 1.33e-06 NaN NaN NaN 1.33e-06 0.00079
30 C16orf71 chromosome 16 open reading frame 71 278600 2 2 1 0 0 0 0 0 2 0 0.0013 0.00071 0.001 0.00012 2.64e-06 0.0015
31 SKA3 241785 2 2 1 0 0 0 0 0 2 0 0.00026 0.00082 0.37 0.00071 3.01e-06 0.0017
32 PRSS16 protease, serine, 16 (thymus) 290142 2 2 1 0 0 0 0 0 2 0 0.00015 0.00068 0.65 0.0012 3.11e-06 0.0017
33 CCDC144B coiled-coil domain containing 144B 212930 2 2 1 0 0 0 0 0 2 0 0.000087 0.00091 0.33 0.0035 4.84e-06 0.0025
34 ACTRT2 actin-related protein T2 188851 2 2 1 0 0 0 0 0 2 0 0.00032 0.0011 0.51 0.0011 5.34e-06 0.0027
35 RAD21 RAD21 homolog (S. pombe) 387652 3 3 3 0 0 0 0 0 3 0 1.02e-06 0.79 0.098 0.56 8.71e-06 0.0043

Note:

N - number of sequenced bases in this gene across the individual set.

n - number of (nonsilent) mutations in this gene across the individual set.

npat - number of patients (individuals) with at least one nonsilent mutation.

nsite - number of unique sites having a non-silent mutation.

nsil - number of silent mutations in this gene across the individual set.

n1 - number of nonsilent mutations of type: *CpG->T .

n2 - number of nonsilent mutations of type: *Cp(A/C/T)->T .

n3 - number of nonsilent mutations of type: A->G .

n4 - number of nonsilent mutations of type: transver .

n5 - number of nonsilent mutations of type: indel+null .

null - mutation category that includes nonsense, frameshift, splice-site mutations

p_classic = p-value for the observed amount of nonsilent mutations being elevated in this gene

p_ns_s = p-value for the observed nonsilent/silent ratio being elevated in this gene

p = p-value (overall)

q = q-value, False Discovery Rate (Benjamini-Hochberg procedure)

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: 18. Number of genes displayed: 10

rank gene description n cos n_cos N_cos cos_ev p q
1 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 20 3 20 597 29840 0 0
2 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 20 6 20 1194 2000 0 0
3 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 47 29 47 5771 172819 0 0
4 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 18 28 18 5572 13364 0 0
5 FLT3 fms-related tyrosine kinase 3 53 114 49 22686 6227 0 0
6 PTPN11 protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1) 7 31 6 6169 260 0 0
7 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 9 51 8 10149 62973 0 0
8 RUNX1 runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) 19 175 17 34825 88 0 0
9 WT1 Wilms tumor 1 13 185 11 36815 563 0 0
10 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 8 183 7 36417 3934 0 0

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)

Clustered Mutations

Table 5.  Get Full Table Genes with Clustered Mutations

num gene desc n mindist nmuts0 nmuts3 nmuts12 npairs0 npairs3 npairs12
659 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 55 0 380 382 398 380 382 398
1037 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 20 0 190 190 190 190 190 190
1038 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 20 0 139 139 139 139 139 139
836 FLT3 fms-related tyrosine kinase 3 53 0 120 120 136 120 120 136
1487 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 18 0 45 81 81 45 81 81
1916 RUNX1 runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) 19 0 12 16 20 12 16 20
1155 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 8 0 10 10 10 10 10 10
1169 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 9 0 7 15 15 7 15 15
1212 LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 3 0 3 3 3 3 3 3
1788 PTPN11 protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1) 7 0 1 2 7 1 2 7

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.

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: 71. 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 HSA04060_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION Genes involved in cytokine-cytokine receptor interaction ACVR1, ACVR1B, ACVR2A, ACVR2B, AMH, AMHR2, BMP2, BMP7, BMPR1A, BMPR1B, BMPR2, CCL1, CCL11, CCL13, CCL14, CCL15, CCL16, CCL17, CCL18, CCL19, CCL2, CCL20, CCL21, CCL22, CCL23, CCL24, CCL25, CCL26, CCL27, CCL28, CCL3, CCL4, CCL5, CCL7, CCL8, CCR1, CCR2, CCR3, CCR4, CCR5, CCR6, CCR7, CCR8, CCR9, CD27, CD40, CD40LG, CD70, CLCF1, CNTF, CNTFR, CRLF2, CSF1, CSF1R, CSF2, CSF2RA, CSF2RB, CSF3, CSF3R, CTF1, CX3CL1, CX3CR1, CXCL1, CXCL10, CXCL11, CXCL12, CXCL13, CXCL14, CXCL16, CXCL2, CXCL3, CXCL5, CXCL6, CXCL9, CXCR3, CXCR4, CXCR6, EDA, EDA2R, EDAR, EGF, EGFR, EPO, EPOR, FAS, FASLG, FLJ78302, FLT1, FLT3, FLT3LG, FLT4, GDF5, GH1, GH2, GHR, HGF, IFNA1, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA2, IFNA21, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNAR1, IFNAR2, IFNB1, IFNE1, IFNG, IFNGR1, IFNGR2, IFNK, IFNW1, IL10, IL10RA, IL10RB, IL11, IL11RA, IL12A, IL12B, IL12RB1, IL12RB2, IL13, IL13RA1, IL15, IL15RA, IL17A, IL17B, IL17RA, IL17RB, IL18, IL18R1, IL18RAP, IL19, IL1A, IL1B, IL1R1, IL1R2, IL1RAP, IL2, IL20, IL20RA, IL21, IL21R, IL22, IL22RA1, IL22RA2, IL23A, IL23R, IL24, IL25, IL26, IL28A, IL28B, IL28RA, IL29, IL2RA, IL2RB, IL2RG, IL3, IL3RA, IL4, IL4R, IL5, IL5RA, IL6, IL6R, IL6ST, IL7, IL7R, IL8, IL8RA, IL8RB, IL9, IL9R, INHBA, INHBB, INHBC, INHBE, KDR, KIT, KITLG, LEP, LEPR, LIF, LIFR, LOC728045, LTA, LTB, LTBR, MET, MPL, NGFR, OSM, OSMR, PDGFB, PDGFC, PDGFRA, PDGFRB, PF4, PF4V1, PLEKHO2, PPBP, PRL, PRLR, RELT, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNF, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11A, TNFRSF11B, TNFRSF12A, TNFRSF13B, TNFRSF13C, TNFRSF14, TNFRSF17, TNFRSF18, TNFRSF19, TNFRSF1A, TNFRSF1B, TNFRSF21, TNFRSF25, TNFRSF4, TNFRSF6B, TNFRSF8, TNFRSF9, TNFSF10, TNFSF11, TNFSF12, TNFSF13, TNFSF13B, TNFSF14, TNFSF15, TNFSF18, TNFSF4, TNFSF8, TNFSF9, TPO, TSLP, VEGFA, VEGFB, VEGFC, XCL1, XCL2, XCR1 242 ACVR2B(1), CCL11(1), CCL16(1), CCL17(1), CCL20(1), CCL21(1), CD70(1), CLCF1(1), CSF3R(2), CXCL16(1), EGF(1), EGFR(2), FLT1(1), FLT3(53), GHR(1), IFNA16(1), IL1R1(1), IL23R(1), IL25(1), KDR(2), KIT(8), KITLG(1), MPL(1), PDGFRA(1), PDGFRB(1), PLEKHO2(1), TPO(1) 50091285 89 80 62 10 7 10 3 31 38 0 <1.00e-15 <3.85e-14
2 HSA04640_HEMATOPOIETIC_CELL_LINEAGE Genes involved in hematopoietic cell lineage ANPEP, CD14, CD19, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD22, CD24, CD33, CD34, CD36, CD37, CD38, CD3D, CD3E, CD3G, CD4, CD44, CD5, CD55, CD59, CD7, CD8A, CD8B, CD9, CR1, CR2, CSF1, CSF1R, CSF2, CSF2RA, CSF3, CSF3R, DNTT, EPO, EPOR, FCER2, FCGR1A, FLT3, FLT3LG, GP1BA, GP1BB, GP5, GP9, GYPA, HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5, IL11, IL11RA, IL1A, IL1B, IL1R1, IL1R2, IL2RA, IL3, IL3RA, IL4, IL4R, IL5, IL5RA, IL6, IL6R, IL7, IL7R, IL9R, ITGA1, ITGA2, ITGA2B, ITGA3, ITGA4, ITGA5, ITGA6, ITGAM, ITGB3, KIT, KITLG, MME, MS4A1, TFRC, THPO, TNF, TPO 83 CR1(1), CSF3R(2), FLT3(53), IL1R1(1), ITGA4(1), KIT(8), KITLG(1), MS4A1(1), TPO(1) 24232827 69 66 42 3 3 3 1 24 38 0 <1.00e-15 <3.85e-14
3 HSA00271_METHIONINE_METABOLISM Genes involved in methionine metabolism AHCY, AMD1, BHMT, CBS, CTH, DNMT1, DNMT3A, DNMT3B, KIAA0828, MARS, MARS2, MAT1A, MAT2B, MTAP, MTFMT, MTR, SRM, TAT 17 CBS(1), DNMT1(2), DNMT3A(55), DNMT3B(2), MAT1A(1) 5761050 61 54 34 0 35 2 4 6 14 0 <1.00e-15 <3.85e-14
4 METHIONINE_METABOLISM AHCY, BHMT, CBS, CTH, DNMT1, DNMT2, DNMT3A, DNMT3B, MARS, MARS2, MAT1A, MAT2B, MTR 12 CBS(1), DNMT1(2), DNMT3A(55), DNMT3B(2), MAT1A(1) 4890226 61 54 34 0 35 2 4 6 14 0 <1.00e-15 <3.85e-14
5 ERYTHPATHWAY Erythropoietin selectively stimulates erythrocyte differentiation from CFU-GEMM cells in bone marrow. CCL3, CSF2, CSF3, EPO, FLT3, IGF1, IL11, IL1A, IL3, IL6, IL9, KITLG, TGFB1, TGFB2, TGFB3 14 FLT3(53), KITLG(1) 2401930 54 53 30 0 0 1 1 17 35 0 <1.00e-15 <3.85e-14
6 HSA04530_TIGHT_JUNCTION Genes involved in tight junction ACTB, ACTG1, ACTN1, ACTN2, ACTN3, ACTN4, AKT1, AKT2, AKT3, AMOTL1, ASH1L, CASK, CDC42, CDK4, CGN, CLDN1, CLDN10, CLDN11, CLDN14, CLDN15, CLDN16, CLDN17, CLDN18, CLDN19, CLDN2, CLDN20, CLDN22, CLDN23, CLDN3, CLDN4, CLDN5, CLDN6, CLDN7, CLDN8, CLDN9, CRB3, CSDA, CSNK2A1, CSNK2A2, CSNK2B, CTNNA1, CTNNA2, CTNNA3, CTNNB1, CTTN, EPB41, EPB41L1, EPB41L2, EPB41L3, EXOC3, EXOC4, F11R, GNAI1, GNAI2, GNAI3, HCLS1, HRAS, IGSF5, INADL, JAM2, JAM3, KRAS, LLGL1, LLGL2, MAGI1, MAGI2, MAGI3, MLLT4, MPDZ, MPP5, MRAS, MRCL3, MRLC2, MYH1, MYH10, MYH11, MYH13, MYH14, MYH15, MYH2, MYH3, MYH4, MYH6, MYH7, MYH7B, MYH8, MYH9, MYL2, MYL5, MYL7, MYL8P, MYL9, MYLC2PL, MYLPF, NRAS, OCLN, PARD3, PARD6A, PARD6B, PARD6G, PPM1J, PPP2CA, PPP2CB, PPP2R1A, PPP2R1B, PPP2R2A, PPP2R2B, PPP2R2C, PPP2R3A, PPP2R3B, PPP2R4, PRKCA, PRKCB1, PRKCD, PRKCE, PRKCG, PRKCH, PRKCI, PRKCQ, PRKCZ, PTEN, RAB13, RAB3B, RHOA, RRAS, RRAS2, SPTAN1, SRC, SYMPK, TJAP1, TJP1, TJP2, TJP3, VAPA, YES1, ZAK 126 CDC42(1), CGN(1), CLDN11(1), CLDN16(1), CLDN18(1), CTNNA2(1), EXOC4(1), GNAI2(1), HCLS1(1), IGSF5(1), JAM2(1), KRAS(9), LLGL2(1), MAGI1(1), MAGI2(1), MAGI3(1), MLLT4(2), MYH1(1), MYH13(2), MYH14(1), MYH15(1), MYH6(2), MYH7(2), MYL9(1), NRAS(18), PARD3(1), PPP2R1B(1), PPP2R2B(1), PPP2R3A(1), PRKCG(1), TJAP1(3), TJP1(1), TJP2(1) 55248171 64 51 47 13 12 19 6 22 5 0 <1.00e-15 <3.85e-14
7 NUCLEAR_RECEPTORS ALK, AR, ESR1, ESR2, ESRRA, HNF4A, NPM1, NR0B1, NR1D2, NR1H2, NR1H3, NR1I2, NR1I3, NR2C2, NR2E1, NR2F1, NR2F2, NR2F6, NR3C1, NR4A1, NR4A2, NR5A1, NR5A2, PGR, PPARA, PPARD, PPARG, RARA, RARB, RARG, ROR1, RORA, RORC, RXRA, RXRB, RXRG, THRA, THRA, NR1D1, THRB, VDR 38 NPM1(47), NR1D1(1), NR1D2(1), NR2E1(2), THRA(1), THRB(1) 11707369 53 51 7 1 1 2 0 2 48 0 <1.00e-15 <3.85e-14
8 HSA04650_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY Genes involved in natural killer cell mediated cytotoxicity ARAF, BID, BRAF, CASP3, CD244, CD247, CD48, CHP, CSF2, FAS, FASLG, FCER1G, FCGR3A, FCGR3B, FYN, GRB2, GZMB, HCST, HLA-A, HLA-B, HLA-C, HLA-E, HLA-G, HRAS, ICAM1, ICAM2, IFNA1, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA2, IFNA21, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNAR1, IFNAR2, IFNB1, IFNG, IFNGR1, IFNGR2, ITGAL, ITGB2, KIR2DL1, KIR2DL2, KIR2DL3, KIR2DL4, KIR2DL5A, KIR2DS1, KIR2DS2, KIR3DL1, KIR3DL2, KLRC1, KLRC2, KLRC3, KLRD1, KLRK1, KRAS, LAT, LCK, LCP2, LOC652578, MAP2K1, MAP2K2, MAPK1, MAPK3, MICA, MICB, NCR1, NCR2, NCR3, NFAT5, NFATC1, NFATC2, NFATC3, NFATC4, NRAS, PAK1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PLCG1, PLCG2, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PRF1, PRKCA, PRKCB1, PRKCG, PTK2B, PTPN11, PTPN6, RAC1, RAC2, RAC3, RAF1, SH2D1A, SH2D1B, SH3BP2, SHC1, SHC2, SHC3, SHC4, SOS1, SOS2, SYK, TNF, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFSF10, TYROBP, ULBP1, ULBP2, ULBP3, VAV1, VAV2, VAV3, ZAP70 122 CASP3(1), GZMB(1), HLA-B(2), IFNA16(1), ITGB2(1), KIR3DL1(3), KLRK1(1), KRAS(9), MAPK1(1), MICB(1), NFATC4(1), NRAS(18), PIK3CB(1), PIK3R2(1), PLCG2(1), PPP3CA(1), PRKCG(1), PTK2B(1), PTPN11(7), SHC1(1), SOS1(1), SYK(1), VAV3(1), ZAP70(1) 31625279 58 48 41 9 6 23 4 24 1 0 <1.00e-15 <3.85e-14
9 GLUTATHIONE_METABOLISM ANPEP, G6PD, GCLC, GCLM, GGT1, GPX1, GPX2, GPX3, GPX4, GPX5, GSS, GSTA1, GSTA2, GSTA3, GSTA4, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GSTO2, GSTP1, GSTT1, GSTT2, GSTZ1, IDH1, IDH2, MGST1, MGST2, MGST3, PGD 29 G6PD(1), GCLM(1), GPX2(1), GSTM3(2), GSTT2(1), IDH1(20), IDH2(20), PGD(1) 5222954 47 45 11 1 34 7 1 5 0 0 <1.00e-15 <3.85e-14
10 HSA04916_MELANOGENESIS Genes involved in melanogenesis ADCY1, ADCY2, ADCY3, ADCY4, ADCY5, ADCY6, ADCY7, ADCY8, ADCY9, ASIP, CALM1, CALM2, CALM3, CALML3, CALML6, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CREB1, CREB3, CREB3L1, CREB3L2, CREB3L3, CREB3L4, CREBBP, CTNNB1, DCT, DVL1, DVL2, DVL3, EDN1, EDNRB, EP300, FZD1, FZD10, FZD2, FZD3, FZD4, FZD5, FZD6, FZD7, FZD8, FZD9, GNAI1, GNAI2, GNAI3, GNAO1, GNAQ, GNAS, GSK3B, HRAS, KIT, KITLG, KRAS, LEF1, LOC652788, MAP2K1, MAP2K2, MAPK1, MAPK3, MC1R, MITF, NRAS, PLCB1, PLCB2, PLCB3, PLCB4, POMC, PRKACA, PRKACB, PRKACG, PRKCA, PRKCB1, PRKCG, PRKX, PRKY, RAF1, TCF7, TCF7L1, TCF7L2, TYR, TYRP1, WNT1, WNT10A, WNT10B, WNT11, WNT16, WNT2, WNT2B, WNT3, WNT3A, WNT4, WNT5A, WNT5B, WNT6, WNT7A, WNT7B, WNT8A, WNT8B, WNT9A, WNT9B 95 ADCY2(1), ADCY3(1), ADCY4(2), ADCY5(1), CREB3L2(1), DCT(1), FZD1(1), GNAI2(1), KIT(8), KITLG(1), KRAS(9), MAPK1(1), NRAS(18), PLCB3(1), PRKCG(1), TCF7(1), TCF7L1(1), WNT11(2), WNT2B(1) 29117083 53 44 34 3 7 18 3 23 2 0 <1.00e-15 <3.85e-14

Table 7.  Get Full Table A Ranked List of Significantly Mutated Genesets (Excluding Significantly Mutated Genes). Number of significant genesets found: 1. 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 HSA04530_TIGHT_JUNCTION Genes involved in tight junction ACTB, ACTG1, ACTN1, ACTN2, ACTN3, ACTN4, AKT1, AKT2, AKT3, AMOTL1, ASH1L, CASK, CDC42, CDK4, CGN, CLDN1, CLDN10, CLDN11, CLDN14, CLDN15, CLDN16, CLDN17, CLDN18, CLDN19, CLDN2, CLDN20, CLDN22, CLDN23, CLDN3, CLDN4, CLDN5, CLDN6, CLDN7, CLDN8, CLDN9, CRB3, CSDA, CSNK2A1, CSNK2A2, CSNK2B, CTNNA1, CTNNA2, CTNNA3, CTNNB1, CTTN, EPB41, EPB41L1, EPB41L2, EPB41L3, EXOC3, EXOC4, F11R, GNAI1, GNAI2, GNAI3, HCLS1, HRAS, IGSF5, INADL, JAM2, JAM3, KRAS, LLGL1, LLGL2, MAGI1, MAGI2, MAGI3, MLLT4, MPDZ, MPP5, MRAS, MRCL3, MRLC2, MYH1, MYH10, MYH11, MYH13, MYH14, MYH15, MYH2, MYH3, MYH4, MYH6, MYH7, MYH7B, MYH8, MYH9, MYL2, MYL5, MYL7, MYL8P, MYL9, MYLC2PL, MYLPF, NRAS, OCLN, PARD3, PARD6A, PARD6B, PARD6G, PPM1J, PPP2CA, PPP2CB, PPP2R1A, PPP2R1B, PPP2R2A, PPP2R2B, PPP2R2C, PPP2R3A, PPP2R3B, PPP2R4, PRKCA, PRKCB1, PRKCD, PRKCE, PRKCG, PRKCH, PRKCI, PRKCQ, PRKCZ, PTEN, RAB13, RAB3B, RHOA, RRAS, RRAS2, SPTAN1, SRC, SYMPK, TJAP1, TJP1, TJP2, TJP3, VAPA, YES1, ZAK 124 CDC42(1), CGN(1), CLDN11(1), CLDN16(1), CLDN18(1), CTNNA2(1), EXOC4(1), GNAI2(1), HCLS1(1), IGSF5(1), JAM2(1), LLGL2(1), MAGI1(1), MAGI2(1), MAGI3(1), MLLT4(2), MYH1(1), MYH13(2), MYH14(1), MYH15(1), MYH6(2), MYH7(2), MYL9(1), PARD3(1), PPP2R1B(1), PPP2R2B(1), PPP2R3A(1), PRKCG(1), TJAP1(3), TJP1(1), TJP2(1) 54990864 37 31 36 13 12 6 4 10 5 0 0.000054 0.033
2 ERBB3PATHWAY Neuregulins bind to the receptor tyrosine kinases ErbB3 and ErbB4, surface-localized receptors whose overexpression induces tumor formation. EGF, EGFR, ERBB3, NRG1, UBE2D1 5 EGF(1), EGFR(2), ERBB3(2), UBE2D1(1) 2995149 6 6 6 1 1 1 0 3 1 0 0.001 0.24
3 HSA04510_FOCAL_ADHESION Genes involved in focal adhesion ACTB, ACTG1, ACTN1, ACTN2, ACTN3, ACTN4, AKT1, AKT2, AKT3, ARHGAP5, BAD, BCAR1, BCL2, BIRC2, BIRC3, BIRC4, BRAF, CAPN2, CAV1, CAV2, CAV3, CCND1, CCND2, CCND3, CDC42, CHAD, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL4A4, COL4A6, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, COL6A3, COL6A6, COMP, CRK, CRKL, CTNNB1, DIAPH1, DOCK1, EGF, EGFR, ELK1, ERBB2, FARP2, FIGF, FLNA, FLNB, FLNC, FLT1, FN1, FYN, GRB2, GRLF1, GSK3B, HGF, HRAS, IBSP, IGF1, IGF1R, ILK, ITGA1, ITGA10, ITGA11, ITGA2, ITGA2B, ITGA3, ITGA4, ITGA5, ITGA6, ITGA7, ITGA8, ITGA9, ITGAV, ITGB1, ITGB3, ITGB4, ITGB5, ITGB6, ITGB7, ITGB8, JUN, KDR, LAMA1, LAMA2, LAMA3, LAMA4, LAMA5, LAMB1, LAMB2, LAMB3, LAMB4, LAMC1, LAMC2, LAMC3, LOC653852, MAP2K1, MAPK1, MAPK10, MAPK3, MAPK8, MAPK9, MET, MLCK, MRCL3, MRLC2, MYL2, MYL5, MYL7, MYL8P, MYL9, MYLC2PL, MYLK, MYLK2, MYLPF, PAK1, PAK2, PAK3, PAK4, PAK6, PAK7, PARVA, PARVB, PARVG, PDGFA, PDGFB, PDGFC, PDGFD, PDGFRA, PDGFRB, PDPK1, PGF, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PIP5K1C, PPP1CA, PPP1CB, PPP1CC, PPP1R12A, PRKCA, PRKCB1, PRKCG, PTEN, PTK2, PXN, RAC1, RAC2, RAC3, RAF1, RAP1A, RAP1B, RAPGEF1, RELN, RHOA, ROCK1, ROCK2, SHC1, SHC2, SHC3, SHC4, SOS1, SOS2, SPP1, SRC, THBS1, THBS2, THBS3, THBS4, TLN1, TLN2, TNC, TNN, TNR, TNXB, VASP, VAV1, VAV2, VAV3, VCL, VEGFA, VEGFB, VEGFC, VTN, VWF, ZYX 185 ARHGAP5(1), CDC42(1), CHAD(1), COL11A2(1), COL1A1(1), COL2A1(2), COL3A1(1), COL4A6(1), COL5A3(1), DOCK1(1), EGF(1), EGFR(2), FLT1(1), FN1(2), ITGA10(1), ITGA11(1), ITGA4(1), ITGAV(1), KDR(2), LAMA1(2), LAMA2(1), LAMA3(2), LAMB3(1), LAMC2(1), LAMC3(1), MAPK1(1), MYL9(1), MYLK(1), MYLK2(1), PDGFRA(1), PDGFRB(1), PIK3CB(1), PIK3R2(1), PIP5K1C(1), PPP1R12A(1), PRKCG(1), RAP1B(1), RAPGEF1(1), SHC1(1), SOS1(1), THBS1(2), THBS3(1), TLN1(1), TNC(2), TNN(1), TNR(1), VASP(1), VAV3(1), VTN(1), VWF(3) 103387067 60 39 60 20 17 12 9 17 5 0 0.0015 0.24
4 HSA05130_PATHOGENIC_ESCHERICHIA_COLI_INFECTION_EHEC Genes involved in pathogenic Escherichia coli infection - EHEC ABL1, ACTB, ACTG1, ARHGEF2, ARPC5, ARPC5L, CD14, CDC42, CDH1, CLDN1, CTNNB1, CTTN, EZR, FYN, HCLS1, ITGB1, KRT18, LOC643224, LOC654264, LY96, NCK1, NCK2, NCL, OCLN, PRKCA, RHOA, ROCK1, ROCK2, TLR4, TLR5, TUBA1A, TUBA1B, TUBA1C, TUBA3C, TUBA3D, TUBA3E, TUBA4A, TUBA8, TUBAL3, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB2C, TUBB3, TUBB4, TUBB4Q, TUBB6, TUBB8, WAS, WASL, YWHAQ, YWHAZ 51 ABL1(2), CDC42(1), EZR(1), HCLS1(1), LY96(1), TLR4(1), TUBA1A(1), TUBA1B(1), TUBA3C(2), TUBB3(1), TUBB4(1), TUBB6(1), TUBB8(1), YWHAZ(1) 15524189 16 16 16 6 4 3 2 6 1 0 0.002 0.24
5 HSA05131_PATHOGENIC_ESCHERICHIA_COLI_INFECTION_EPEC Genes involved in pathogenic Escherichia coli infection - EPEC ABL1, ACTB, ACTG1, ARHGEF2, ARPC5, ARPC5L, CD14, CDC42, CDH1, CLDN1, CTNNB1, CTTN, EZR, FYN, HCLS1, ITGB1, KRT18, LOC643224, LOC654264, LY96, NCK1, NCK2, NCL, OCLN, PRKCA, RHOA, ROCK1, ROCK2, TLR4, TLR5, TUBA1A, TUBA1B, TUBA1C, TUBA3C, TUBA3D, TUBA3E, TUBA4A, TUBA8, TUBAL3, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB2C, TUBB3, TUBB4, TUBB4Q, TUBB6, TUBB8, WAS, WASL, YWHAQ, YWHAZ 51 ABL1(2), CDC42(1), EZR(1), HCLS1(1), LY96(1), TLR4(1), TUBA1A(1), TUBA1B(1), TUBA3C(2), TUBB3(1), TUBB4(1), TUBB6(1), TUBB8(1), YWHAZ(1) 15524189 16 16 16 6 4 3 2 6 1 0 0.002 0.24
6 HSA04810_REGULATION_OF_ACTIN_CYTOSKELETON Genes involved in regulation of actin cytoskeleton ABI2, ACTN1, ACTN2, ACTN3, ACTN4, APC, APC2, ARAF, ARHGEF1, ARHGEF12, ARHGEF4, ARHGEF6, ARHGEF7, ARPC1A, ARPC1B, ARPC2, ARPC3, ARPC4, ARPC5, ARPC5L, BAIAP2, BCAR1, BDKRB1, BDKRB2, BRAF, C3orf10, CD14, CDC42, CFL1, CFL2, CHRM1, CHRM2, CHRM3, CHRM4, CHRM5, CRK, CRKL, CSK, CYFIP1, CYFIP2, DIAPH1, DIAPH2, DIAPH3, DOCK1, EGF, EGFR, EZR, F2, F2R, FGD1, FGD3, FGF1, FGF10, FGF11, FGF12, FGF13, FGF14, FGF16, FGF17, FGF18, FGF19, FGF2, FGF20, FGF21, FGF22, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FN1, GIT1, GNA12, GNA13, GNG12, GRLF1, GSN, HRAS, INS, IQGAP1, IQGAP2, IQGAP3, ITGA1, ITGA10, ITGA11, ITGA2, ITGA2B, ITGA3, ITGA4, ITGA5, ITGA6, ITGA7, ITGA8, ITGA9, ITGAD, ITGAE, ITGAL, ITGAM, ITGAV, ITGAX, ITGB1, ITGB2, ITGB3, ITGB4, ITGB5, ITGB6, ITGB7, ITGB8, KRAS, LIMK1, LIMK2, LOC200025, LOC645126, LOC653888, MAP2K1, MAP2K2, MAPK1, MAPK3, MLCK, MOS, MRAS, MRCL3, MRLC2, MSN, MYH10, MYH14, MYH9, MYL2, MYL5, MYL7, MYL8P, MYL9, MYLC2PL, MYLK, MYLK2, MYLPF, NCKAP1, NCKAP1L, NRAS, PAK1, PAK2, PAK3, PAK4, PAK6, PAK7, PDGFA, PDGFB, PDGFRA, PDGFRB, PFN1, PFN2, PFN3, PFN4, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PIP4K2A, PIP4K2B, PIP4K2C, PIP5K1A, PIP5K1B, PIP5K1C, PIP5K3, PPP1CA, PPP1CB, PPP1CC, PPP1R12A, PPP1R12B, PTK2, PXN, RAC1, RAC2, RAC3, RAF1, RDX, RHOA, ROCK1, ROCK2, RRAS, RRAS2, SCIN, SLC9A1, SOS1, SOS2, SSH1, SSH2, SSH3, TIAM1, TIAM2, TMSB4X, TMSB4Y, TMSL3, VAV1, VAV2, VAV3, VCL, WAS, WASF1, WASF2, WASL 191 APC(4), ARHGEF1(1), ARHGEF6(1), BAIAP2(1), CDC42(1), DIAPH2(1), DOCK1(1), EGF(1), EGFR(2), EZR(1), FGF8(1), FN1(2), IQGAP3(3), ITGA10(1), ITGA11(1), ITGA4(1), ITGAD(2), ITGAV(1), ITGAX(1), ITGB2(1), MAPK1(1), MYH14(1), MYL9(1), MYLK(1), MYLK2(1), PDGFRA(1), PDGFRB(1), PIK3CB(1), PIK3R2(1), PIP5K1B(1), PIP5K1C(1), PPP1R12A(1), SOS1(1), SSH3(1), TIAM2(1), TMSL3(1), VAV3(1) 77184737 45 33 45 10 13 9 6 13 4 0 0.0029 0.3
7 CIRCADIAN_EXERCISE ARNTL, AZIN1, BTG1, C10orf110, C1orf1, CBX3, CEBPB, CLDN5, CLOCK, CRY1, CRY2, DAZAP2, DAZAP2, LOC401029, DNAJA1, EIF4G2, ETV6, G0S2, GENX_3414, GFRA1, GSTM3, GSTP1, HERPUD1, HLA_DMA, HSPA8, IDI1, KLF9, MAP3K7IP2, MYF6, NCKAP1, NCOA4, NR1D2, OAZIN, PER1, PER2, PIGF, PPP1R3C, PPP2CB, PSMA4, PURA, SF3A3, SUMO3, TOB1, TUBB3, UCP3, UGP2, VAPA, ZFR 36 CRY1(1), DAZAP2(1), GSTM3(2), NR1D2(1), PIGF(1), PURA(1), TUBB3(1) 10039948 8 8 8 2 0 0 3 3 2 0 0.0045 0.35
8 GLUTATHIONE_METABOLISM ANPEP, G6PD, GCLC, GCLM, GGT1, GPX1, GPX2, GPX3, GPX4, GPX5, GSS, GSTA1, GSTA2, GSTA3, GSTA4, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GSTO2, GSTP1, GSTT1, GSTT2, GSTZ1, IDH1, IDH2, MGST1, MGST2, MGST3, PGD 27 G6PD(1), GCLM(1), GPX2(1), GSTM3(2), GSTT2(1), PGD(1) 4736200 7 7 7 1 0 4 1 2 0 0 0.0045 0.35
9 HSA04020_CALCIUM_SIGNALING_PATHWAY Genes involved in calcium signaling pathway ADCY1, ADCY2, ADCY3, ADCY4, ADCY7, ADCY8, ADCY9, ADORA2A, ADORA2B, ADRA1A, ADRA1B, ADRA1D, ADRB1, ADRB2, ADRB3, AGTR1, ATP2A1, ATP2A2, ATP2A3, ATP2B1, ATP2B2, ATP2B3, ATP2B4, AVPR1A, AVPR1B, BDKRB1, BDKRB2, BST1, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA1S, CALM1, CALM2, CALM3, CALML3, CALML6, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CAMK4, CCKAR, CCKBR, CD38, CHP, CHRM1, CHRM2, CHRM3, CHRM5, CHRNA7, CYSLTR1, CYSLTR2, DRD1, EDNRA, EDNRB, EGFR, ERBB2, ERBB3, ERBB4, F2R, GNA11, GNA14, GNA15, GNAL, GNAQ, GNAS, GRIN1, GRIN2A, GRIN2C, GRIN2D, GRM1, GRM5, GRPR, HRH1, HRH2, HTR2A, HTR2B, HTR2C, HTR4, HTR5A, HTR6, HTR7, ITPKA, ITPKB, ITPR1, ITPR2, ITPR3, LHCGR, LTB4R2, MLCK, MYLK, MYLK2, NOS1, NOS2A, NOS3, NTSR1, OXTR, P2RX1, P2RX2, P2RX3, P2RX4, P2RX5, P2RX7, P2RXL1, PDE1A, PDE1B, PDE1C, PDGFRA, PDGFRB, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PLCB1, PLCB2, PLCB3, PLCB4, PLCD1, PLCD3, PLCD4, PLCE1, PLCG1, PLCG2, PLCZ1, PLN, PPID, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PRKACA, PRKACB, PRKACG, PRKCA, PRKCB1, PRKCG, PRKX, PRKY, PTAFR, PTGER1, PTGER3, PTGFR, PTK2B, RYR1, RYR2, RYR3, SLC25A4, SLC25A5, SLC25A6, SLC8A1, SLC8A2, SLC8A3, SPHK1, SPHK2, TACR1, TACR2, TACR3, TBXA2R, TNNC1, TNNC2, TRHR, TRPC1, VDAC1, VDAC2, VDAC3 163 ADCY2(1), ADCY3(1), ADCY4(2), ADRA1A(1), ATP2A2(1), ATP2B2(1), ATP2B3(1), CACNA1B(3), CACNA1D(1), CACNA1E(3), CACNA1G(2), CACNA1I(1), CACNA1S(1), CAMK4(1), EGFR(2), ERBB3(2), GNA15(1), GRM5(1), HTR5A(1), ITPR1(1), ITPR3(1), MYLK(1), MYLK2(1), NOS1(1), P2RX7(1), PDGFRA(1), PDGFRB(1), PHKG1(1), PLCB3(1), PLCD4(1), PLCE1(4), PLCG2(1), PLCZ1(1), PPP3CA(1), PRKCG(1), PTK2B(1), RYR1(1), RYR3(4), TNNC2(1), TRPC1(1), VDAC1(1) 76549927 55 39 55 21 14 12 7 20 2 0 0.0057 0.39
10 CALCIUM_REGULATION_IN_CARDIAC_CELLS ADCY1, ADCY2, ADCY3, ADCY4, ADCY5, ADCY6, ADCY7, ADCY8, ADCY9, ADRA1A, ADRA1B, ADRA1D, ADRB1, ADRB2, ADRB3, ANXA6, ARRB1, ARRB2, ATP1A4, ATP1B1, ATP1B2, ATP1B3, ATP2A2, ATP2A3, ATP2B1, ATP2B2, ATP2B3, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1S, CACNB1, CACNB3, CALM1, CALM2, CALM3, CALR, CAMK1, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CAMK4, CASQ1, CASQ2, CHRM1, CHRM2, CHRM3, CHRM4, CHRM5, FXYD2, GJA1, GJA12, GJA4, GJA5, GJB1, GJB2, GJB3, GJB4, GJB5, GJB6, GNA11, GNAI2, GNAI3, GNAO1, GNAQ, GNAZ, GNB1, GNB2, GNB3, GNB4, GNB5, GNG12, GNG13, GNG2, GNG3, GNG4, GNG5, GNG7, GNGT1, GRK4, GRK5, GRK6, ITPR1, ITPR2, ITPR3, KCNB1, KCNJ3, KCNJ5, MGC11266, MYCBP, NME7, PEA15, PKIA, PKIB, PKIG, PLCB3, PLN, PRKACA, PRKACB, PRKAR1A, PRKAR1B, PRKAR2A, PRKAR2B, PRKCA, PRKCB1, PRKCD, PRKCE, PRKCG, PRKCH, PRKCQ, PRKCZ, PRKD1, RGS1, RGS10, RGS11, RGS14, RGS16, RGS17, RGS18, RGS19, RGS2, RGS20, RGS3, RGS4, RGS5, RGS6, RGS7, RGS9, RYR1, RYR2, RYR3, SARA1, SFN, SLC8A1, SLC8A3, USP5, YWHAB, YWHAH, YWHAQ, YWHAQ, MIB1 135 ADCY2(1), ADCY3(1), ADCY4(2), ADCY5(1), ADRA1A(1), ANXA6(1), ARRB1(1), ATP2A2(1), ATP2B2(1), ATP2B3(1), CACNA1B(3), CACNA1D(1), CACNA1E(3), CACNA1S(1), CACNB3(1), CALR(2), CAMK4(1), GJA4(1), GJB3(2), GJB4(1), GNAI2(1), GNB1(1), ITPR1(1), ITPR3(1), PKIB(1), PLCB3(1), PRKCG(1), RGS16(1), RGS3(1), RYR1(1), RYR3(4) 54716642 41 30 41 16 11 11 3 12 4 0 0.0094 0.52
Methods & Data
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]

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] TCGA, Integrated genomic analyses of ovarian carcinoma, Nature 474