Mutation Analysis (MutSig v2.0 and MutSigCV v0.9 merged result)
Ovarian Serous Cystadenocarcinoma (Primary solid tumor)
23 May 2013  |  analyses__2013_05_23
Maintainer Information
Citation Information
doi:10.7908/C1862DH2
Maintained by Dan DiCara (Broad Institute)
Cite as Broad Institute TCGA Genome Data Analysis Center (2013): Mutation Analysis (MutSig v2.0 and MutSigCV v0.9 merged result). Broad Institute of MIT and Harvard. doi:10.7908/C1862DH2
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 and MutSigCV v0.9 merged result was used to generate the results found in this report.

  • Working with individual set: OV-TP

  • Number of patients in set: 316

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:OV-TP.final_analysis_set.maf

  • Significantly mutated genes (q ≤ 0.1): 2

  • Mutations seen in COSMIC: 394

  • Significantly mutated genes in COSMIC territory: 39

  • Significantly mutated genesets: 39

Mutation Preprocessing

  • Read 148 MAFs of type "Broad"

  • Read 88 MAFs of type "WashU"

  • Read 80 MAFs of type "Baylor-SOLiD"

  • Total number of mutations in input MAFs: 20219

Mutation Filtering

  • Number of mutations before filtering: 20219

  • After removing 1 non-mutations: 20218

  • After removing 778 mutations outside gene set: 19440

  • After removing 9 mutations outside category set: 19431

  • After removing 4 "impossible" mutations in

  • gene-patient-category bins of zero coverage: 18640

Results
Breakdown of Mutations by Type

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

type count
Frame_Shift_Del 441
Frame_Shift_Ins 155
In_Frame_Del 148
In_Frame_Ins 37
Indel 13
Missense_Mutation 13164
Nonsense_Mutation 800
Nonstop_Mutation 16
Silent 4231
Splice_Site_Del 33
Splice_Site_Ins 5
Splice_Site_SNP 388
Total 19431
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 1860 396729715 4.7e-06 4.7 2.5
*Cp(A/C/T)->T 2187 3661505903 6e-07 0.6 0.32
C->(G/A) 5212 4058235618 1.3e-06 1.3 0.69
A->mut 3901 4115893953 9.5e-07 0.95 0.51
indel+null 2030 8174129610 2.5e-07 0.25 0.13
double_null 7 8174129610 8.6e-10 0.00086 0.00046
Total 15197 8174129610 1.9e-06 1.9 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: OV-TP.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)->T

  • n3 = number of nonsilent mutations of type: C->(G/A)

  • n4 = number of nonsilent mutations of type: A->mut

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

  • n6 = number of nonsilent mutations of type: double_null

  • 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: 2. 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_cons p_joint p_cv p q
1 TP53 tumor protein p53 401524 279 276 143 3 47 31 39 61 101 0 0 0 3.4e-15 0 0
2 TBP TATA box binding protein 321652 4 4 2 0 0 0 0 0 4 0 1 0.00017 0.0016 4.3e-06 0.036
3 SRC v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) 372331 4 4 2 0 0 0 4 0 0 0 0.025 4.8e-06 0.28 0.000019 0.11
4 RB1 retinoblastoma 1 (including osteosarcoma) 826059 9 9 9 0 0 1 3 0 5 0 0.72 0.41 0.000022 0.00012 0.49
5 PECAM1 platelet/endothelial cell adhesion molecule (CD31 antigen) 532586 2 2 2 0 0 1 0 0 1 0 0.94 1 0.000021 0.00024 0.83
6 POTED POTE ankyrin domain family, member D 356257 4 4 4 0 0 0 0 3 1 0 0.12 0.22 0.00062 0.0014 1
7 BRCA1 breast cancer 1, early onset 1798045 12 12 12 0 0 0 1 0 11 0 0.26 0.67 0.00021 0.0014 1
8 CDK12 cyclin-dependent kinase 12 1351667 9 9 9 0 0 0 1 3 5 0 0.32 0.075 0.0032 0.0023 1
9 LGR6 leucine-rich repeat-containing G protein-coupled receptor 6 851888 3 3 3 1 0 0 0 1 2 0 0.0013 0.0026 0.15 0.0034 1
10 C9orf171 chromosome 9 open reading frame 171 251675 5 5 5 0 2 0 2 0 1 0 0.02 0.059 0.0067 0.0035 1
11 GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 440417 6 6 6 1 1 3 1 1 0 0 0.36 0.075 0.0083 0.0052 1
12 SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 663836 3 3 3 0 0 0 1 2 0 0 0.048 0.0021 0.34 0.0058 1
13 MYADM myeloid-associated differentiation marker 298495 2 2 2 0 1 0 0 0 1 0 0.012 0.0056 0.14 0.0065 1
14 GLB1L galactosidase, beta 1-like 630873 2 2 2 0 0 1 0 1 0 0 0.0013 0.0013 0.71 0.0074 1
15 LCOR ligand dependent nuclear receptor corepressor 396634 4 4 4 0 0 1 1 0 2 0 0.017 0.086 0.012 0.0079 1
16 C16orf70 chromosome 16 open reading frame 70 399974 2 2 2 0 0 0 0 0 2 0 0.0068 0.0083 0.15 0.0095 1
17 C1orf95 chromosome 1 open reading frame 95 81558 3 3 3 0 0 0 2 0 1 0 0.82 0.75 0.0017 0.0099 1
18 B2M beta-2-microglobulin 116980 2 2 1 0 0 0 0 2 0 0 0.09 0.022 0.061 0.01 1
19 INHBA inhibin, beta A 397678 3 3 3 0 1 0 0 0 2 0 0.019 0.029 0.051 0.011 1
20 FAM200A family with sequence similarity 200, member A 224183 2 2 2 0 1 0 1 0 0 0 0.28 0.32 0.0046 0.011 1
21 DAD1 defender against cell death 1 110421 2 2 2 0 0 0 0 0 2 0 0.75 1 0.0018 0.013 1
22 DUSP19 dual specificity phosphatase 19 211393 4 4 4 0 0 0 1 3 0 0 0.51 1 0.0019 0.014 1
23 STK38 serine/threonine kinase 38 457533 3 3 3 0 0 0 1 1 1 0 0.96 0.019 0.11 0.015 1
24 KRT72 keratin 72 406355 4 4 4 1 1 1 1 1 0 0 0.3 0.037 0.059 0.016 1
25 KLK7 kallikrein-related peptidase 7 156165 2 2 2 0 0 1 0 0 1 0 0.017 0.04 0.056 0.016 1
26 ZNF706 zinc finger protein 706 73696 2 2 2 0 0 0 1 0 1 0 0.96 1 0.0024 0.017 1
27 CREBBP CREB binding protein (Rubinstein-Taybi syndrome) 1964764 7 7 7 1 0 1 0 3 3 0 0.11 0.0062 0.41 0.018 1
28 DNTTIP1 deoxynucleotidyltransferase, terminal, interacting protein 1 288688 2 2 2 0 0 0 0 1 1 0 0.064 0.019 0.15 0.019 1
29 ZCCHC4 zinc finger, CCHC domain containing 4 432134 2 2 2 0 0 0 1 1 0 0 0.0021 0.0028 1 0.019 1
30 SPANXN4 SPANX family, member N4 85457 1 1 1 0 0 0 0 0 1 0 NaN NaN 0.02 0.02 1
31 ZNF354A zinc finger protein 354A 548982 2 2 2 0 1 0 1 0 0 0 0.0088 0.0096 0.31 0.021 1
32 TOP2A topoisomerase (DNA) II alpha 170kDa 1179592 6 6 6 1 0 0 2 0 4 0 0.71 0.12 0.025 0.021 1
33 TAS2R1 taste receptor, type 2, member 1 278655 3 3 3 0 0 0 2 0 1 0 0.084 0.038 0.08 0.021 1
34 C11orf59 chromosome 11 open reading frame 59 116986 2 2 1 0 0 0 0 2 0 0 0.058 0.093 0.034 0.021 1
35 GPX6 glutathione peroxidase 6 (olfactory) 192914 3 3 3 0 0 0 1 1 1 0 0.84 1 0.0032 0.021 1
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: 39. Number of genes displayed: 10

rank gene description n cos n_cos N_cos cos_ev p q
1 TP53 tumor protein p53 279 824 278 260384 70907 0 0
2 RB1 retinoblastoma 1 (including osteosarcoma) 9 267 8 84372 16 9.6e-12 2.1e-08
3 NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) 15 285 6 90060 8 2.7e-08 0.000039
4 MYO3A myosin IIIA 7 14 3 4424 3 9.2e-08 0.0001
5 KLK10 kallikrein-related peptidase 10 2 2 2 632 2 6.9e-07 0.0006
6 CDC27 cell division cycle 27 homolog (S. cerevisiae) 4 3 2 948 2 1.5e-06 0.0011
7 ERBB2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) 4 42 3 13272 4 2.5e-06 0.0015
8 MLL4 myeloid/lymphoid or mixed-lineage leukemia 2 4 6 2 1896 2 6.2e-06 0.0034
9 NIPBL Nipped-B homolog (Drosophila) 5 7 2 2212 2 8.4e-06 0.0041
10 FBXW7 F-box and WD repeat domain containing 7 4 91 3 28756 118 0.000024 0.011

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)

Geneset Analyses

Table 5.  Get Full Table A Ranked List of Significantly Mutated Genesets. (Source: MSigDB GSEA Cannonical Pathway Set).Number of significant genesets found: 39. 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 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 106 ABL1(1), ANAPC1(1), ANAPC2(1), ANAPC4(1), ANAPC5(1), ATM(5), ATR(2), BUB1(1), BUB1B(2), BUB3(1), CCNA1(2), CCNA2(1), CCNB3(3), CCNH(1), CDC20(1), CDC25B(2), CDC27(4), CDC6(1), CDC7(2), CDK2(1), CDKN1A(1), CDKN1B(1), CDKN2C(2), CDKN2D(1), CHEK2(1), CREBBP(7), E2F2(1), EP300(1), GADD45A(1), GADD45B(1), GSK3B(1), HDAC1(1), MAD2L2(1), MCM2(2), MCM3(1), MCM4(2), MCM5(2), ORC1L(1), ORC4L(1), PRKDC(8), RB1(9), RBL1(1), RBL2(3), SKP2(2), SMC1A(5), SMC1B(3), TFDP1(2), TP53(279), YWHAB(1), YWHAE(2), YWHAG(2) 59044916 380 287 244 28 60 44 71 84 121 0 <1.00e-15 <4.88e-14
2 G1_TO_S_CELL_CYCLE_REACTOME ATM, CCNA1, CCNB1, CCND1, CCND2, CCND3, CCNE1, CCNE2, CCNG2, CCNH, CDC25A, CDC45L, CDK2, CDK4, CDK7, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CDKN2D, CREB3, CREB3L1, CREB3L3, CREB3L4, CREBL1, CREBL1, TNXB, E2F1, E2F2, E2F3, E2F4, E2F5, E2F6, FLJ14001, GADD45A, GBA2, MCM2, MCM3, MCM4, MCM5, MCM6, MCM7, MDM2, MNAT1, MYC, MYT1, NACA, NACA, FKSG17, ORC1L, ORC2L, ORC3L, ORC4L, ORC5L, ORC6L, PCNA, POLA2, POLE, POLE2, PRIM1, PRIM2A, RB1, RBL1, RPA1, RPA2, RPA3, TFDP1, TFDP2, TP53, WEE1 64 ATM(5), CCNA1(2), CCNG2(1), CCNH(1), CDK2(1), CDKN1A(1), CDKN1B(1), CDKN2C(2), CDKN2D(1), CREB3L1(1), CREB3L4(1), E2F2(1), E2F5(1), GADD45A(1), GBA2(2), MCM2(2), MCM3(1), MCM4(2), MCM5(2), MNAT1(1), MYT1(2), NACA(4), ORC1L(1), ORC4L(1), POLE(2), POLE2(1), RB1(9), RBL1(1), RPA1(2), RPA2(1), TFDP1(2), TNXB(4), TP53(279) 32487850 339 286 203 24 56 38 60 70 115 0 <1.00e-15 <4.88e-14
3 CELL_CYCLE_KEGG ABL1, ASK, ATM, BUB1, BUB1B, BUB3, CCNA1, CCNA2, CCNB1, CCNB2, CCNB3, CCND2, CCND3, CCNE1, CCNE2, CCNH, CDAN1, CDC14A, CDC14B, CDC14B, CDC14C, CDC2, CDC20, CDC25A, CDC25B, CDC25C, CDC45L, CDC6, CDC7, CDH1, CDK2, CDK4, CDKN1A, CDKN2A, CHEK1, CHEK2, DTX4, E2F1, E2F2, E2F3, E2F4, E2F5, E2F6, EP300, ESPL1, FLJ14001, GADD45A, GSK3B, HDAC1, HDAC2, HDAC3, HDAC4, HDAC5, HDAC6, HDAC7A, HDAC8, MAD1L1, MAD2L1, MAD2L2, MCM2, MCM3, MCM4, MCM5, MCM6, MCM7, MDM2, MPEG1, MPL, ORC1L, ORC2L, ORC3L, ORC4L, ORC5L, ORC6L, PCNA, PLK1, PRKDC, PTPRA, PTTG1, PTTG2, PTTG3, RB1, RBL1, SKP2, SMAD4, SMC1L1, TBC1D8, TFDP1, TGFB1, TP53, WEE1 82 ABL1(1), ATM(5), BUB1(1), BUB1B(2), BUB3(1), CCNA1(2), CCNA2(1), CCNB3(3), CCNH(1), CDAN1(2), CDC20(1), CDC25B(2), CDC6(1), CDC7(2), CDH1(2), CDK2(1), CDKN1A(1), CHEK2(1), E2F2(1), E2F5(1), EP300(1), GADD45A(1), GSK3B(1), HDAC1(1), HDAC3(2), HDAC4(2), HDAC5(1), HDAC6(2), MAD2L2(1), MCM2(2), MCM3(1), MCM4(2), MCM5(2), MPEG1(1), ORC1L(1), ORC4L(1), PRKDC(8), RB1(9), RBL1(1), SKP2(2), TBC1D8(3), TFDP1(2), TP53(279) 48736010 358 283 222 27 56 42 65 80 115 0 <1.00e-15 <4.88e-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 78 AIFM1(2), APAF1(2), ATM(5), BID(1), BIRC3(2), CASP6(1), CASP7(1), CASP9(1), CHUK(1), CSF2RB(3), FADD(1), IKBKB(1), IRAK1(2), IRAK2(1), IRAK3(2), IRAK4(1), MAP3K14(1), NFKB1(1), NTRK1(4), PIK3CA(2), PIK3CB(1), PIK3CG(3), PIK3R1(1), PIK3R2(2), PIK3R5(1), PPP3CC(1), PRKACG(1), PRKAR2A(1), PRKAR2B(1), RELA(1), TNF(1), TNFRSF10A(2), TNFRSF10D(1), TNFRSF1A(1), TNFSF10(1), TP53(279), TRAF2(1) 35255671 334 282 198 25 53 42 59 75 105 0 <1.00e-15 <4.88e-14
5 G2PATHWAY Activated Cdc2-cyclin B kinase regulates the G2/M transition; DNA damage stimulates the DNA-PK/ATM/ATR kinases, which inactivate Cdc2. ATM, ATR, BRCA1, CCNB1, CDC2, CDC25A, CDC25B, CDC25C, CDC34, CDKN1A, CDKN2D, CHEK1, CHEK2, EP300, GADD45A, MDM2, MYT1, PLK, PRKDC, RPS6KA1, TP53, WEE1, YWHAH, YWHAQ 21 ATM(5), ATR(2), BRCA1(12), CDC25B(2), CDKN1A(1), CDKN2D(1), CHEK2(1), EP300(1), GADD45A(1), MYT1(2), PRKDC(8), RPS6KA1(1), TP53(279) 18900608 316 280 180 7 49 34 46 71 116 0 <1.00e-15 <4.88e-14
6 CHEMICALPATHWAY DNA damage promotes Bid cleavage, which stimulates mitochondrial cytochrome c release and consequent caspase activation, resulting in apoptosis. ADPRT, AKT1, APAF1, ATM, BAD, BAX, BCL2, BCL2L1, BID, CASP3, CASP6, CASP7, CASP9, CYCS, EIF2S1, PRKCA, PRKCB1, PTK2, PXN, STAT1, TLN1, TP53 20 APAF1(2), ATM(5), BID(1), CASP6(1), CASP7(1), CASP9(1), EIF2S1(1), PRKCA(1), PTK2(1), PXN(5), STAT1(2), TLN1(1), TP53(279) 12296579 301 279 165 7 49 33 50 66 103 0 <1.00e-15 <4.88e-14
7 RBPATHWAY The ATM protein kinase recognizes DNA damage and blocks cell cycle progression by phosphorylating chk1 and p53, which normally inhibits Rb to allow G1/S transitions. ATM, CDC2, CDC25A, CDC25B, CDC25C, CDK2, CDK4, CHEK1, MYT1, RB1, TP53, WEE1, YWHAH 12 ATM(5), CDC25B(2), CDK2(1), MYT1(2), RB1(9), TP53(279) 7986534 298 279 162 5 47 33 47 64 107 0 <1.00e-15 <4.88e-14
8 P53PATHWAY p53 induces cell cycle arrest or apoptosis under conditions of DNA damage. APAF1, ATM, BAX, BCL2, CCND1, CCNE1, CDK2, CDK4, CDKN1A, E2F1, GADD45A, MDM2, PCNA, RB1, TIMP3, TP53 16 APAF1(2), ATM(5), CDK2(1), CDKN1A(1), GADD45A(1), RB1(9), TP53(279) 8056664 298 278 162 3 48 34 44 65 107 0 <1.00e-15 <4.88e-14
9 ST_JNK_MAPK_PATHWAY JNKs are MAP kinases regulated by several levels of kinases (MAPKK, MAPKKK) and phosphorylate transcription factors and regulatory proteins. AKT1, ATF2, CDC42, DLD, DUSP10, DUSP4, DUSP8, GAB1, GADD45A, GCK, IL1R1, JUN, MAP2K4, MAP2K5, MAP2K7, MAP3K1, MAP3K10, MAP3K11, MAP3K12, MAP3K13, MAP3K2, MAP3K3, MAP3K4, MAP3K5, MAP3K7, MAP3K7IP1, MAP3K7IP2, MAP3K9, MAPK10, MAPK7, MAPK8, MAPK9, MYEF2, NFATC3, NR2C2, PAPPA, SHC1, TP53, TRAF6, ZAK 36 GADD45A(1), MAP2K4(1), MAP3K1(1), MAP3K10(2), MAP3K12(1), MAP3K13(2), MAP3K2(2), MAP3K3(1), MAP3K4(2), MAP3K5(2), MAP3K7(3), MAP3K9(1), MAPK8(1), MAPK9(1), MYEF2(1), PAPPA(3), SHC1(1), TP53(279), TRAF6(2) 21375636 307 278 171 6 51 37 50 65 104 0 <1.00e-15 <4.88e-14
10 PMLPATHWAY Ring-shaped PML nuclear bodies regulate transcription and are required co-activators in p53- and DAXX-mediated apoptosis. CREBBP, DAXX, HRAS, PAX3, PML, PRAM-1, RARA, RB1, SIRT1, SP100, TNF, TNFRSF1A, TNFRSF1B, TNFRSF6, TNFSF6, TP53, UBL1 13 CREBBP(7), DAXX(1), PAX3(5), RARA(1), RB1(9), SP100(4), TNF(1), TNFRSF1A(1), TP53(279) 8081303 308 277 172 6 49 34 47 66 112 0 <1.00e-15 <4.88e-14
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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