Colon/Rectal Adenocarcinoma: Mutation Analysis (MutSig v2.0)
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: COADREAD

  • Number of patients in set: 224

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

  • MAF used for this analysis:COADREAD.final_analysis_set.maf

  • Significantly mutated genes (q ≤ 0.1): 217

  • Mutations seen in COSMIC: 739

  • Significantly mutated genes in COSMIC territory: 31

  • Genes with clustered mutations (≤ 3 aa apart): 1746

  • Significantly mutated genesets: 153

  • Significantly mutated genesets: (excluding sig. mutated genes):0

Mutation Preprocessing

  • Read 140 MAFs of type "Broad"

  • Read 88 MAFs of type "Baylor"

  • Total number of mutations in input MAFs: 91973

  • After removing 1369 invalidated mutations: 90604

  • After removing 1176 noncoding mutations: 89428

  • After collapsing adjacent/redundant mutations: 82148

Mutation Filtering

  • Number of mutations before filtering: 82148

  • After removing 784 mutations outside gene set: 81364

  • After removing 343 mutations outside category set: 81021

  • After removing 34 "impossible" mutations in

  • gene-patient-category bins of zero coverage: 80987

Results
Breakdown of Mutations by Type

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

type count
De_novo_Start_InFrame 21
De_novo_Start_OutOfFrame 156
Frame_Shift_Del 1293
Frame_Shift_Ins 808
In_Frame_Del 166
In_Frame_Ins 27
Missense_Mutation 54120
Nonsense_Mutation 5060
Nonstop_Mutation 36
Read-through 10
Silent 19135
Splice_Site 187
Translation_Start_Site 2
Total 81021
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 20389 369939104 0.000055 55 6
*Cp(A/C/T)->mut 21037 3041594232 6.9e-06 6.9 0.75
A->mut 12112 3284997724 3.7e-06 3.7 0.4
*CpG->(G/A) 562 369939104 1.5e-06 1.5 0.16
indel+null 7461 6696531284 1.1e-06 1.1 0.12
double_null 304 6696531284 4.5e-08 0.045 0.0049
Total 61865 6696531284 9.2e-06 9.2 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.  Patients counts and rates file used to generate this plot: COADREAD.patients.counts_and_rates.txt

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

Column Descriptions:

  • 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)->mut

  • n3 = number of nonsilent mutations of type: A->mut

  • n4 = number of nonsilent mutations of type: *CpG->(G/A)

  • n5 = number of nonsilent mutations of type: indel+null

  • n6 = number of nonsilent mutations of type: double_null

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

  • p_ks = p-value for clustering of mutations (Kolmogorov-Smirnoff test)

  • p_cons = p-value for enrichment of mutations at evolutionarily most-conserved sites in gene

  • p_joint = p-value for clustering + conservation

  • p = p-value (overall)

  • 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: 217. 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_ks p_cons p_joint p q
1 APC adenomatous polyposis coli 1924608 187 160 128 4 6 15 11 0 103 52 2e-15 2e-07 0.87 0.000019 0.000 0.000
2 FBXW7 F-box and WD repeat domain containing 7 578816 45 38 28 2 23 6 5 2 9 0 5e-15 0.000029 0.018 0.000024 0.000 0.000
3 SMAD4 SMAD family member 4 381472 29 26 22 0 10 6 9 0 3 1 6.7e-15 0.025 0.00048 0.00016 0.000 0.000
4 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 131264 20 20 8 0 2 14 4 0 0 0 5.8e-15 0.000012 0.098 0.000015 0.000 0.000
5 TP53 tumor protein p53 289720 122 120 69 2 48 22 12 2 38 0 1.9e-15 2e-07 2e-07 0 <1.00e-15 <1.64e-12
6 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 158368 96 96 11 0 0 91 4 0 1 0 1.1e-15 2e-07 0.000072 0 <1.00e-15 <1.64e-12
7 PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide 736288 40 33 21 2 6 20 14 0 0 0 5.9e-15 0.0013 2e-06 0 <1.00e-15 <1.64e-12
8 BRAF v-raf murine sarcoma viral oncogene homolog B1 499744 23 22 4 0 0 0 23 0 0 0 1.2e-12 2e-07 2e-07 0 <1.00e-15 <1.64e-12
9 GGT1 gamma-glutamyltransferase 1 358400 3 3 1 1 0 3 0 0 0 0 0.59 3.8e-06 5.8e-06 0 <1.00e-15 <1.64e-12
10 OSTN osteocrin 92736 3 3 2 0 2 0 1 0 0 0 0.022 0.25 0.038 0 <1.00e-15 <1.64e-12
11 MUTYH mutY homolog (E. coli) 383768 2 2 2 3 1 0 0 0 1 0 0.59 0.25 0.022 0 <1.00e-15 <1.64e-12
12 FAM123B family with sequence similarity 123B 743964 27 25 24 2 1 3 4 0 19 0 7.9e-15 0.0013 0.74 0.0037 1.11e-15 1.67e-12
13 SMAD2 SMAD family member 2 323456 16 15 12 1 3 5 3 0 5 0 1.7e-11 0.0086 0.12 0.0094 4.90e-12 6.80e-09
14 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 453708 20 18 18 4 5 5 3 0 7 0 1e-10 0.0016 0.069 0.0019 6.04e-12 7.78e-09
15 FAT4 FAT tumor suppressor homolog 4 (Drosophila) 3346084 73 39 73 21 19 30 19 1 4 0 3.3e-08 0.00014 0.42 0.00039 3.32e-10 4.00e-07
16 KIAA1804 540708 18 15 16 0 8 7 1 0 2 0 7e-07 0.00028 0.0019 9e-05 1.55e-09 1.71e-06
17 ACVR1B activin A receptor, type IB 340816 15 14 15 0 4 7 2 0 2 0 7.3e-08 0.051 0.00017 0.0009 1.61e-09 1.71e-06
18 LRP1B low density lipoprotein-related protein 1B (deleted in tumors) 3172736 75 39 73 18 11 34 22 0 5 3 4.3e-10 0.45 0.77 0.58 5.76e-09 5.77e-06
19 WBSCR17 Williams-Beuren syndrome chromosome region 17 403312 19 19 18 3 10 5 1 0 3 0 3.5e-09 0.078 0.62 0.14 1.09e-08 1.03e-05
20 MAP2K4 mitogen-activated protein kinase kinase 4 252000 11 11 10 1 3 4 2 0 2 0 2.4e-07 0.011 0.0032 0.0024 1.33e-08 1.19e-05
21 KRTAP5-5 keratin associated protein 5-5 131768 4 4 1 1 0 0 0 4 0 0 0.000012 0.00053 0.000047 0.000093 2.34e-08 2.01e-05
22 PCDH9 protocadherin 9 835520 26 22 26 7 3 11 11 0 1 0 1.3e-09 0.92 0.88 1 2.75e-08 2.26e-05
23 TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 177840 6 6 2 0 0 6 0 0 0 0 0.000069 4.2e-06 1 0.000026 3.80e-08 2.98e-05
24 KLHL4 kelch-like 4 (Drosophila) 508704 16 16 16 3 6 8 2 0 0 0 1.8e-08 0.78 0.52 0.81 2.73e-07 0.000205
25 DMD dystrophin (muscular dystrophy, Duchenne and Becker types) 2608328 47 33 46 6 10 14 14 0 9 0 2e-07 0.042 0.78 0.091 3.49e-07 0.000251
26 BTNL8 butyrophilin-like 8 196296 3 3 1 1 0 0 3 0 0 0 0.02 3.4e-06 0.058 1.2e-06 4.43e-07 0.000308
27 PCBP1 poly(rC) binding protein 1 229712 6 6 3 0 0 0 6 0 0 0 0.00084 0.0016 0.0013 0.000046 6.89e-07 0.000460
28 LIFR leukemia inhibitory factor receptor alpha 754200 24 18 24 5 4 6 9 1 4 0 9.3e-08 0.52 0.52 0.6 9.96e-07 0.000642
29 SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) 268720 10 10 10 0 0 0 1 0 8 1 1.1e-06 0.04 0.38 0.061 1.18e-06 0.000732
30 ARID1A AT rich interactive domain 1A (SWI-like) 1311268 22 21 20 3 2 5 1 1 13 0 9.5e-07 0.093 0.091 0.11 1.72e-06 0.00103
31 SDK1 sidekick homolog 1, cell adhesion molecule (chicken) 1435964 30 27 28 9 19 7 3 0 1 0 3e-05 0.0019 0.24 0.0036 1.85e-06 0.00108
32 ACOT4 acyl-CoA thioesterase 4 239748 3 3 2 1 0 0 0 0 2 1 0.042 4e-07 0.019 3e-06 2.13e-06 0.00120
33 NRXN1 neurexin 1 1042896 24 20 24 11 10 7 4 1 2 0 0.000011 0.016 0.13 0.015 2.78e-06 0.00152
34 CDH2 cadherin 2, type 1, N-cadherin (neuronal) 609504 22 16 21 0 3 15 3 1 0 0 3.6e-06 0.035 0.42 0.06 3.51e-06 0.00182
35 CNTN6 contactin 6 711200 22 17 22 3 5 13 2 0 2 0 2.3e-07 0.82 0.96 0.96 3.53e-06 0.00182
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: 31. Number of genes displayed: 10

rank gene description n cos n_cos N_cos cos_ev p q
1 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 96 51 95 11424 1013913 0 0
2 ERBB3 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) 14 6 6 1344 6 0 0
3 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 20 28 18 6272 17998 0 0
4 FBXW7 F-box and WD repeat domain containing 7 45 91 31 20384 1228 0 0
5 BRAF v-raf murine sarcoma viral oncogene homolog B1 23 88 20 19712 210160 0 0
6 PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide 40 184 34 41216 13256 0 0
7 APC adenomatous polyposis coli 187 838 137 187712 2553 0 0
8 TP53 tumor protein p53 122 823 122 184352 45406 0 0
9 SMAD4 SMAD family member 4 29 159 19 35616 90 0 0
10 KRTAP5-5 keratin associated protein 5-5 4 1 4 224 4 7.4e-13 3.3e-10

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
6669 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 96 0 2294 2964 3043 2294 2964 3043
13065 TP53 tumor protein p53 122 0 280 459 747 280 459 747
1259 BRAF v-raf murine sarcoma viral oncogene homolog B1 23 0 190 190 190 190 190 190
646 APC adenomatous polyposis coli 187 0 166 221 326 166 221 326
4546 FBXW7 F-box and WD repeat domain containing 7 45 0 81 87 105 81 87 105
9484 PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide 40 0 74 111 136 74 111 136
8418 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 20 0 61 73 73 61 73 73
11776 SMAD4 SMAD family member 4 29 0 24 30 56 24 30 56
4118 ERBB3 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) 14 0 10 15 15 10 15 15
4372 FAM22F family with sequence similarity 22, member F 9 0 10 10 10 10 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.

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: 153. 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(187), APC2(1), AXIN1(2), AXIN2(9), BTRC(5), CACYBP(2), CAMK2A(1), CAMK2B(2), CAMK2D(3), CAMK2G(2), CCND2(1), CCND3(1), CER1(3), CHD8(6), CREBBP(25), CSNK1A1(2), CSNK1A1L(5), CSNK2A1(4), CSNK2A2(2), CSNK2B(2), CTBP1(1), CTBP2(2), CTNNB1(12), CTNNBIP1(1), CUL1(8), CXXC4(1), DAAM1(2), DAAM2(9), DKK1(5), DKK2(6), DKK4(7), DVL2(9), DVL3(4), EP300(15), FBXW11(8), FZD1(1), FZD10(6), FZD2(2), FZD3(13), FZD4(2), FZD6(6), FZD7(3), FZD8(1), GSK3B(8), LEF1(4), LRP5(5), LRP6(17), MAP3K7(4), MAPK10(8), MAPK8(7), MAPK9(5), MMP7(5), NFAT5(5), NFATC1(2), NFATC2(5), NFATC3(5), NFATC4(5), NKD1(3), NKD2(1), NLK(1), PLCB1(8), PLCB2(3), PLCB3(4), PLCB4(10), PORCN(2), PPARD(2), PPP2CA(1), PPP2CB(2), PPP2R1A(4), PPP2R1B(2), PPP2R2A(1), PPP2R2B(3), PPP2R2C(4), PPP3CA(3), PPP3CB(5), PPP3CC(4), PPP3R1(1), PPP3R2(1), PRICKLE1(11), PRICKLE2(6), PRKACA(1), PRKACB(1), PRKACG(3), PRKCA(4), PRKCG(10), PRKX(2), PSEN1(3), RBX1(1), RHOA(5), ROCK1(15), ROCK2(6), RUVBL1(8), SENP2(3), SFRP1(3), SFRP2(3), SFRP4(4), SFRP5(1), SIAH1(1), SKP1(1), SMAD2(16), SMAD3(9), SMAD4(29), SOX17(2), TBL1X(6), TBL1XR1(6), TBL1Y(1), TCF7(6), TCF7L1(3), TCF7L2(20), TP53(122), VANGL1(2), VANGL2(5), WIF1(2), WNT1(1), WNT10B(4), WNT11(3), WNT16(2), WNT2(1), WNT2B(3), WNT3(4), WNT3A(1), WNT4(1), WNT5A(3), WNT6(1), WNT7A(2), WNT7B(2), WNT8A(2), WNT9A(2), WNT9B(2) 54356112 894 218 758 155 275 204 133 8 221 53 <1.00e-15 <3.62e-14
2 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 203 ABI2(1), ACTN1(5), ACTN2(8), ACTN3(3), ACTN4(3), APC(187), APC2(1), ARAF(3), ARHGEF1(5), ARHGEF12(9), ARHGEF4(4), ARHGEF6(10), ARHGEF7(8), ARPC1A(5), ARPC1B(2), ARPC2(2), ARPC5(1), ARPC5L(2), BAIAP2(1), BDKRB2(3), BRAF(23), CD14(1), CDC42(1), CFL1(1), CHRM1(3), CHRM2(11), CHRM3(4), CHRM4(1), CHRM5(2), CRKL(2), CSK(3), CYFIP1(6), CYFIP2(5), DIAPH1(1), DIAPH2(12), DIAPH3(5), DOCK1(7), EGF(3), EGFR(11), EZR(2), F2(3), FGD1(8), FGD3(2), FGF1(2), FGF11(3), FGF12(3), FGF13(3), FGF14(5), FGF17(1), FGF19(1), FGF20(2), FGF21(1), FGF23(1), FGF3(1), FGF5(4), FGF6(3), FGF7(1), FGF8(1), FGF9(1), FGFR1(4), FGFR2(6), FGFR3(2), FGFR4(2), FN1(21), GIT1(3), GNA12(2), GNA13(2), GRLF1(12), IQGAP1(13), IQGAP2(12), IQGAP3(11), ITGA1(3), ITGA10(7), ITGA11(4), ITGA2(6), ITGA2B(4), ITGA3(4), ITGA4(8), ITGA5(7), ITGA6(4), ITGA7(6), ITGA8(8), ITGA9(6), ITGAD(8), ITGAE(7), ITGAL(8), ITGAM(8), ITGAV(5), ITGAX(6), ITGB1(6), ITGB2(5), ITGB3(9), ITGB4(3), ITGB5(6), ITGB6(6), ITGB7(4), ITGB8(5), KRAS(96), LIMK1(5), LIMK2(5), MAP2K1(4), MAP2K2(1), MAPK1(2), MAPK3(3), MOS(3), MRAS(1), MSN(6), MYH10(10), MYH14(12), MYH9(12), MYL2(1), MYL7(1), MYL9(2), MYLK(14), MYLK2(3), NCKAP1(9), NCKAP1L(11), NRAS(20), PAK1(5), PAK2(3), PAK3(5), PAK6(1), PAK7(7), PDGFA(1), PDGFRA(17), PDGFRB(6), PFN2(1), PFN4(1), PIK3CA(40), PIK3CB(2), PIK3CD(3), PIK3CG(14), PIK3R1(10), PIK3R2(1), PIK3R3(4), PIK3R5(1), PIP4K2A(2), PIP4K2B(2), PIP4K2C(3), PIP5K1A(3), PIP5K1B(2), PIP5K1C(4), PPP1CB(2), PPP1CC(2), PPP1R12A(3), PPP1R12B(9), PTK2(5), RAF1(6), RDX(3), RHOA(5), ROCK1(15), ROCK2(6), RRAS2(2), SCIN(3), SLC9A1(4), SOS1(7), SOS2(11), SSH1(6), SSH2(4), SSH3(1), TIAM1(17), TIAM2(16), TMSL3(1), VAV1(13), VAV2(4), VAV3(12), VCL(2), WAS(1), WASF1(3), WASF2(2), WASL(7) 94731820 1187 216 982 278 334 392 203 8 194 56 <1.00e-15 <3.62e-14
3 ST_ADRENERGIC Adrenergic receptors respond to epinephrine and norepinephrine signaling. AKT1, APC, AR, ASAH1, BF, BRAF, CAMP, CCL13, CCL15, CCL16, DAG1, EGFR, GAS, GNA11, GNA15, GNAI1, GNAQ, ITPKA, ITPKB, ITPR1, ITPR2, ITPR3, KCNJ3, KCNJ5, KCNJ9, MAPK1, MAPK10, MAPK14, PHKA2, PIK3CA, PIK3CD, PIK3R1, PITX2, PTX1, PTX3, RAF1, SRC 34 AKT1(2), APC(187), AR(6), ASAH1(3), BRAF(23), CCL13(1), CCL15(1), DAG1(5), EGFR(11), GNA11(1), GNA15(3), GNAI1(4), GNAQ(4), ITPKB(4), ITPR1(19), ITPR2(18), ITPR3(12), KCNJ3(6), KCNJ5(4), KCNJ9(3), MAPK1(2), MAPK10(8), MAPK14(3), PHKA2(6), PIK3CA(40), PIK3CD(3), PIK3R1(10), PITX2(2), PTX3(2), RAF1(6), SRC(3) 18222276 402 191 303 61 77 74 76 0 120 55 <1.00e-15 <3.62e-14
4 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(4), APC(187), ATF2(1), AXIN1(2), BMP10(3), BMP2(1), BMP4(2), BMP5(5), BMP7(6), BMPR1A(4), BMPR2(10), CHRD(5), CTNNB1(12), FZD1(1), GATA4(1), GSK3B(8), MAP3K7(4), MEF2C(9), MYL2(1), NKX2-5(1), NPPA(1), NPPB(1), RFC1(14), TGFB1(1), TGFB2(9), TGFBR1(9), TGFBR2(7), TGFBR3(8), WNT1(1) 12081204 318 185 257 34 50 54 35 1 126 52 <1.00e-15 <3.62e-14
5 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(187), AXIN1(2), CD14(1), CTNNB1(12), FZD1(1), GJA1(7), GNAI1(4), GSK3B(8), IRAK1(1), LBP(1), LEF1(4), LY96(2), MYD88(2), NFKB1(6), PDPK1(1), PIK3CA(40), PIK3R1(10), PPP2CA(1), RELA(2), TIRAP(1), TLR4(10), TOLLIP(1), WNT1(1) 10111476 307 183 228 28 44 50 43 1 115 54 <1.00e-15 <3.62e-14
6 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 109 ABL1(4), ANAPC1(4), ANAPC10(2), ANAPC2(1), ANAPC4(4), ANAPC5(3), ANAPC7(4), ATM(37), ATR(17), BUB1(6), BUB1B(6), BUB3(2), CCNA1(6), CCNA2(3), CCNB1(2), CCNB2(2), CCNB3(7), CCND2(1), CCND3(1), CCNE1(3), CCNE2(2), CCNH(2), CDC14A(4), CDC14B(4), CDC16(4), CDC20(3), CDC23(6), CDC25A(2), CDC25B(5), CDC25C(4), CDC27(13), CDC6(1), CDC7(3), CDK2(2), CDK4(3), CDK6(1), CDK7(1), CDKN1A(1), CDKN1B(3), CDKN2A(1), CDKN2C(1), CHEK1(1), CHEK2(1), CREBBP(25), CUL1(8), DBF4(5), E2F2(1), E2F3(2), EP300(15), ESPL1(8), GSK3B(8), HDAC1(2), HDAC2(2), MAD1L1(2), MAD2L1(1), MAD2L2(1), MCM3(3), MCM4(4), MCM5(6), MCM6(4), MCM7(3), MDM2(4), ORC1L(1), ORC3L(1), ORC4L(1), ORC5L(1), PCNA(3), PKMYT1(1), PLK1(8), PRKDC(18), PTTG1(1), RB1(7), RBL1(5), RBL2(8), RBX1(1), SKP1(1), SKP2(1), SMAD2(16), SMAD3(9), SMAD4(29), SMC1A(10), SMC1B(6), TFDP1(4), TGFB1(1), TGFB2(9), TP53(122), WEE1(3), YWHAB(2), YWHAE(3), YWHAH(1), YWHAQ(1) 46359792 561 182 490 105 172 159 112 9 105 4 <1.00e-15 <3.62e-14
7 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(187), AXIN1(2), BTRC(5), CREBBP(25), CSNK1A1(2), CSNK1D(4), CSNK2A1(4), CTBP1(1), CTNNB1(12), FZD1(1), GSK3B(8), HDAC1(2), MAP3K7(4), NLK(1), PPARD(2), PPP2CA(1), TLE1(1), WIF1(2), WNT1(1) 9781784 265 178 206 26 34 31 31 2 115 52 <1.00e-15 <3.62e-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(8), ADCY2(15), ADCY3(2), ADCY4(9), ADCY5(11), ADCY6(1), ADCY7(4), ADCY8(12), ADCY9(6), ADRB1(3), CSNK1D(4), DRD1(1), DRD2(5), EGF(3), EGFR(11), GJA1(7), GJD2(1), GNA11(1), GNAI1(4), GNAQ(4), GNAS(6), GRB2(3), GRM1(12), GRM5(11), GUCY1A2(12), GUCY1A3(17), GUCY1B3(9), GUCY2C(8), GUCY2D(8), GUCY2F(11), HTR2A(3), HTR2B(1), HTR2C(8), ITPR1(19), ITPR2(18), ITPR3(12), KRAS(96), MAP2K1(4), MAP2K2(1), MAP2K5(4), MAP3K2(3), MAPK1(2), MAPK3(3), MAPK7(3), NPR1(6), NPR2(10), NRAS(20), PDGFA(1), PDGFC(3), PDGFD(3), PDGFRA(17), PDGFRB(6), PLCB1(8), PLCB2(3), PLCB3(4), PLCB4(10), PRKACA(1), PRKACB(1), PRKACG(3), PRKCA(4), PRKCG(10), PRKG1(9), PRKG2(5), PRKX(2), RAF1(6), SOS1(7), SOS2(11), SRC(3), TJP1(7), TUBA1B(2), TUBA1C(2), TUBA3C(9), TUBA3D(3), TUBA3E(5), TUBA4A(3), TUBA8(2), TUBAL3(4), TUBB(1), TUBB1(2), TUBB2A(3), TUBB2B(3), TUBB3(2), TUBB4(3), TUBB4Q(2), TUBB6(3), TUBB8(3) 44773672 598 175 497 177 196 266 87 4 42 3 <1.00e-15 <3.62e-14
9 HSA04910_INSULIN_SIGNALING_PATHWAY Genes involved in insulin signaling pathway ACACA, ACACB, AKT1, AKT2, AKT3, ARAF, BAD, BRAF, CALM1, CALM2, CALM3, CALML3, CALML6, CBL, CBLB, CBLC, CRK, CRKL, EIF4EBP1, ELK1, EXOC7, FASN, FBP1, FBP2, FLOT1, FLOT2, FOXO1, FRAP1, G6PC, G6PC2, GCK, GRB2, GSK3B, GYS1, GYS2, HRAS, IKBKB, INPP5D, INS, INSR, IRS1, IRS2, IRS4, KIAA1303, KRAS, LIPE, MAP2K1, MAP2K2, MAPK1, MAPK10, MAPK3, MAPK8, MAPK9, MKNK1, MKNK2, NRAS, PCK1, PCK2, PDE3A, PDE3B, PDPK1, PFKL, PFKM, PFKP, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PKLR, PKM2, PPARGC1A, PPP1CA, PPP1CB, PPP1CC, PPP1R3A, PPP1R3B, PPP1R3C, PPP1R3D, PRKAA1, PRKAA2, PRKAB1, PRKAB2, PRKACA, PRKACB, PRKACG, PRKAG1, PRKAG2, PRKAG3, PRKAR1A, PRKAR1B, PRKAR2A, PRKAR2B, PRKCI, PRKCZ, PRKX, PRKY, PTPN1, PTPRF, PYGB, PYGL, PYGM, RAF1, RAPGEF1, RHEB, RHOQ, RPS6, RPS6KB1, RPS6KB2, SH2B2, SHC1, SHC2, SHC3, SHC4, SKIP, SLC2A4, SOCS1, SOCS2, SOCS3, SOCS4, SORBS1, SOS1, SOS2, SREBF1, TRIP10, TSC1, TSC2 131 ACACA(18), ACACB(15), AKT1(2), AKT2(6), AKT3(1), ARAF(3), BAD(1), BRAF(23), CBL(5), CBLB(8), CRKL(2), EXOC7(2), FASN(1), FBP2(3), FLOT1(3), FOXO1(1), G6PC(4), G6PC2(1), GCK(2), GRB2(3), GSK3B(8), GYS1(2), GYS2(11), IKBKB(4), INPP5D(4), INSR(6), IRS1(8), IRS4(15), KRAS(96), LIPE(4), MAP2K1(4), MAP2K2(1), MAPK1(2), MAPK10(8), MAPK3(3), MAPK8(7), MAPK9(5), MKNK1(1), MKNK2(3), NRAS(20), PCK1(3), PCK2(3), PDE3A(5), PDE3B(3), PDPK1(1), PFKL(1), PFKM(4), PFKP(2), PHKA1(8), PHKA2(6), PHKB(6), PHKG2(3), PIK3CA(40), PIK3CB(2), PIK3CD(3), PIK3CG(14), PIK3R1(10), PIK3R2(1), PIK3R3(4), PIK3R5(1), PKM2(2), PPARGC1A(5), PPP1CB(2), PPP1CC(2), PPP1R3A(13), PPP1R3B(1), PPP1R3C(4), PPP1R3D(1), PRKAA1(3), PRKAA2(9), PRKAB1(2), PRKAB2(1), PRKACA(1), PRKACB(1), PRKACG(3), PRKAG1(1), PRKAG2(3), PRKAG3(6), PRKAR1A(5), PRKAR1B(1), PRKAR2B(3), PRKCI(4), PRKX(2), PTPN1(5), PTPRF(9), PYGB(4), PYGL(2), PYGM(4), RAF1(6), RAPGEF1(6), RPS6KB1(3), RPS6KB2(2), SHC1(3), SHC2(1), SHC3(1), SHC4(5), SLC2A4(4), SOCS2(3), SOCS4(1), SORBS1(11), SOS1(7), SOS2(11), SREBF1(1), TSC1(4), TSC2(2) 53785020 606 172 461 157 160 259 127 5 53 2 <1.00e-15 <3.62e-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 99 ADCY1(8), ADCY2(15), ADCY3(2), ADCY4(9), ADCY5(11), ADCY6(1), ADCY7(4), ADCY8(12), ADCY9(6), CAMK2A(1), CAMK2B(2), CAMK2D(3), CAMK2G(2), CREB1(1), CREB3(3), CREB3L1(3), CREB3L2(4), CREB3L3(3), CREB3L4(1), CREBBP(25), CTNNB1(12), DCT(13), DVL2(9), DVL3(4), EDN1(1), EDNRB(12), EP300(15), FZD1(1), FZD10(6), FZD2(2), FZD3(13), FZD4(2), FZD6(6), FZD7(3), FZD8(1), GNAI1(4), GNAO1(5), GNAQ(4), GNAS(6), GSK3B(8), KIT(8), KITLG(2), KRAS(96), LEF1(4), MAP2K1(4), MAP2K2(1), MAPK1(2), MAPK3(3), MITF(5), NRAS(20), PLCB1(8), PLCB2(3), PLCB3(4), PLCB4(10), POMC(2), PRKACA(1), PRKACB(1), PRKACG(3), PRKCA(4), PRKCG(10), PRKX(2), RAF1(6), TCF7(6), TCF7L1(3), TCF7L2(20), TYR(3), TYRP1(2), WNT1(1), WNT10B(4), WNT11(3), WNT16(2), WNT2(1), WNT2B(3), WNT3(4), WNT3A(1), WNT4(1), WNT5A(3), WNT6(1), WNT7A(2), WNT7B(2), WNT8A(2), WNT9A(2), WNT9B(2) 36670196 510 172 406 144 158 221 77 7 47 0 <1.00e-15 <3.62e-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 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(2), CD3D(1), CD3G(2), CD80(1), CTLA4(2), GRB2(3), HLA-DRA(5), HLA-DRB1(2), ICOS(1), IL2(4), ITK(11), LCK(3), PIK3R1(10), PTPN11(5) 3496216 52 30 50 10 15 19 7 0 7 4 0.00038 0.24
2 CREMPATHWAY The transcription factor CREM activates a post-meiotic transcriptional cascade culminating in spermatogenesis. ADCY1, CREM, FHL5, FSHB, FSHR, GNAS, XPO1 7 ADCY1(8), CREM(4), FHL5(4), FSHB(2), FSHR(7), GNAS(6), XPO1(2) 3165356 33 29 33 12 13 9 7 1 3 0 0.00085 0.26
3 ALTERNATIVEPATHWAY The alternative complement pathway is an antibody-independent mechanism of immune activation that results in cell lysis via the membrane attack complex. BF, C3, C5, C6, C7, C8A, C9, DF, PFC 6 C3(11), C5(13), C6(13), C7(5), C8A(6), C9(5) 4331412 53 30 53 14 16 19 10 0 7 1 0.0042 0.6
4 PLCPATHWAY Phospholipase C hydrolyzes the membrane lipid PIP2 to DAG, which activates protein kinase C, and IP3, which causes calcium influx. AKT1, PIK3CA, PIK3R1, PLCB1, PLCG1, PRKCA, PRKCB1, VAV1 6 AKT1(2), PIK3R1(10), PLCB1(8), PLCG1(4), PRKCA(4), VAV1(13) 3613868 41 31 40 12 16 9 7 1 6 2 0.0055 0.6
5 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(4), HLA-DRA(5), HLA-DRB1(2), IL3(3) 943012 14 12 13 4 7 5 0 0 0 2 0.0058 0.6
6 GABAPATHWAY Gamma-aminobutyric acid (GABA) is an inhibitory neurotransmitter whose receptor is regulated by Plic-1, gephyrin, and GABARAP, which promote receptor clustering. DNM1, GABARAP, GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GPHN, NSF, SRC, UBQLN1 11 DNM1(11), GABRA1(4), GABRA2(9), GABRA3(5), GABRA4(8), GABRA6(5), GPHN(12), NSF(1), SRC(3), UBQLN1(2) 3769808 60 32 57 20 16 26 11 0 7 0 0.0082 0.6
7 GPCRDB_CLASS_C_METABOTROPIC_GLUTAMATE_PHEROMONE CASR, GABBR1, GPCR5A, GPR51, GPRC5A, GPRC5B, GPRC5C, GPRC5D, GRM1, GRM2, GRM3, GRM4, GRM5, GRM7, GRM8 13 CASR(7), GABBR1(6), GPRC5A(2), GPRC5B(2), GPRC5C(2), GPRC5D(1), GRM1(12), GRM2(4), GRM3(7), GRM4(7), GRM5(11), GRM7(12), GRM8(9) 6796908 82 48 80 47 35 23 14 1 9 0 0.0094 0.6
8 1_AND_2_METHYLNAPHTHALENE_DEGRADATION ADH1A, ADH1A, ADH1B, ADH1C, ADH1B, ADH1C, ADH4, ADH6, ADH7, ADHFE1 7 ADH1A(1), ADH1B(3), ADH1C(4), ADH4(2), ADH6(6), ADH7(2), ADHFE1(6) 1888992 24 19 24 9 3 9 11 0 1 0 0.0098 0.6
9 COMPLEMENT_ACTIVATION_CLASSICAL C1QA, C1QB, C1QG, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C9, DAF, MASP1 12 C1QB(1), C1R(3), C1S(6), C2(4), C3(11), C5(13), C6(13), C7(5), C8A(6), C9(5), MASP1(12) 6647924 79 39 79 26 26 27 14 0 11 1 0.011 0.6
10 EDG1PATHWAY The lipid S1P is an EDG1 ligand promoting chemotaxis via Rac1 and cell survival and proliferation via ERK activation. ADCY1, AKT1, ARHA, ASAH1, EDG1, GNAI1, GNB1, GNGT1, ITGAV, ITGB3, MAPK1, MAPK3, PDGFA, PDGFRA, PIK3CA, PIK3R1, PLCB1, PRKCA, PRKCB1, PTK2, RAC1, SKIP, SMPD1, SMPD2, SPHK1, SRC 21 ADCY1(8), AKT1(2), ASAH1(3), GNAI1(4), GNB1(1), GNGT1(1), ITGAV(5), ITGB3(9), MAPK1(2), MAPK3(3), PDGFA(1), PDGFRA(17), PIK3R1(10), PLCB1(8), PRKCA(4), PTK2(5), SMPD1(6), SPHK1(1), SRC(3) 8456588 93 45 92 31 29 23 22 2 14 3 0.013 0.6
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 474:609 - 615 (2011)
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