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: COADREAD-TP
-
Number of patients in set: 223
The input for this pipeline is a set of individuals with the following files associated for each:
-
An annotated .maf file describing the mutations called for the respective individual, and their properties.
-
A .wig file that contains information about the coverage of the sample.
-
MAF used for this analysis:COADREAD-TP.final_analysis_set.maf
-
Significantly mutated genes (q ≤ 0.1): 22
-
Mutations seen in COSMIC: 738
-
Significantly mutated genes in COSMIC territory: 29
-
Significantly mutated genesets: 35
-
Read 140 MAFs of type "Broad"
-
Read 87 MAFs of type "Baylor-SOLiD"
-
Total number of mutations in input MAFs: 91943
-
After removing 1369 invalidated mutations: 90574
-
After removing 1176 noncoding mutations: 89398
-
After collapsing adjacent/redundant mutations: 82119
-
Number of mutations before filtering: 82119
-
After removing 847 mutations outside gene set: 81272
-
After removing 343 mutations outside category set: 80929
-
After removing 12 "impossible" mutations in
-
gene-patient-category bins of zero coverage: 79727
type | count |
---|---|
De_novo_Start_InFrame | 20 |
De_novo_Start_OutOfFrame | 156 |
Frame_Shift_Del | 1289 |
Frame_Shift_Ins | 808 |
In_Frame_Del | 166 |
In_Frame_Ins | 26 |
Missense_Mutation | 54063 |
Nonsense_Mutation | 5054 |
Nonstop_Mutation | 36 |
Read-through | 10 |
Silent | 19113 |
Splice_Site | 186 |
Translation_Start_Site | 2 |
Total | 80929 |
category | n | N | rate | rate_per_mb | relative_rate | exp_ns_s_ratio |
---|---|---|---|---|---|---|
*CpG->T | 20367 | 334435554 | 0.000061 | 61 | 6 | 2.1 |
*Cp(A/C/T)->mut | 21024 | 2765622679 | 7.6e-06 | 7.6 | 0.75 | 3.3 |
A->mut | 12105 | 3006258245 | 4e-06 | 4 | 0.4 | 3.9 |
*CpG->(G/A) | 561 | 334435554 | 1.7e-06 | 1.7 | 0.17 | 2.7 |
indel+null | 7446 | 6106316478 | 1.2e-06 | 1.2 | 0.12 | NaN |
double_null | 304 | 6106316478 | 5e-08 | 0.05 | 0.0049 | NaN |
Total | 61807 | 6106316478 | 1e-05 | 10 | 1 | 3.5 |
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).
The mutation spectrum is depicted in the lego plots below in which the 96 possible mutation types are subdivided into six large blocks, color-coded to reflect the base substitution type. Each large block is further subdivided into the 16 possible pairs of 5' and 3' neighbors, as listed in the 4x4 trinucleotide context legend. The height of each block corresponds to the mutation frequency for that kind of mutation (counts of mutations normalized by the base coverage in a given bin). The shape of the spectrum is a signature for dominant mutational mechanisms in different tumor types.
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_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)
rank | gene | description | N | n | npat | nsite | nsil | n1 | n2 | n3 | n4 | n5 | n6 | p_clust | p_cons | p_joint | p_cv | p | q |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | APC | adenomatous polyposis coli | 1882819 | 187 | 160 | 128 | 4 | 6 | 15 | 11 | 0 | 103 | 52 | 0 | 0.92 | 0 | 0 | 0 | 0 |
2 | FBXW7 | F-box and WD repeat domain containing 7 | 575336 | 45 | 38 | 28 | 2 | 23 | 6 | 5 | 2 | 9 | 0 | 0.000028 | 0.031 | 0.000021 | 1.2e-14 | 0 | 0 |
3 | NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog | 130677 | 20 | 20 | 8 | 0 | 2 | 14 | 4 | 0 | 0 | 0 | 0.000014 | 0.12 | 0.000032 | 1.3e-14 | 0 | 0 |
4 | BRAF | v-raf murine sarcoma viral oncogene homolog B1 | 491043 | 23 | 22 | 4 | 0 | 0 | 0 | 23 | 0 | 0 | 0 | 0 | 0 | 0 | 5.4e-06 | 0 | 0 |
5 | KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | 157303 | 96 | 96 | 11 | 0 | 0 | 91 | 4 | 0 | 1 | 0 | 0 | 0.00073 | 0 | 4.7e-15 | 0 | 0 |
6 | TP53 | tumor protein p53 | 266735 | 121 | 119 | 69 | 2 | 47 | 22 | 12 | 2 | 38 | 0 | 0 | 0 | 0 | 3e-15 | 0 | 0 |
7 | SMAD4 | SMAD family member 4 | 375807 | 29 | 26 | 22 | 0 | 10 | 6 | 9 | 0 | 3 | 1 | 0.027 | 0.0011 | 0.00043 | 6.3e-14 | 1.1e-15 | 2.8e-12 |
8 | FAM123B | family with sequence similarity 123B | 639797 | 27 | 25 | 24 | 2 | 1 | 3 | 4 | 0 | 19 | 0 | 0.0046 | 0.76 | 0.012 | 1.5e-12 | 6.2e-13 | 1.4e-09 |
9 | PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 618889 | 40 | 33 | 21 | 2 | 6 | 20 | 14 | 0 | 0 | 0 | 0.00051 | 0.000022 | 2e-06 | 3.4e-08 | 2.2e-12 | 4.3e-09 |
10 | SMAD2 | SMAD family member 2 | 320993 | 16 | 15 | 12 | 1 | 3 | 5 | 3 | 0 | 5 | 0 | 0.0095 | 0.14 | 0.0082 | 1.2e-07 | 2.1e-08 | 0.000037 |
11 | TCF7L2 | transcription factor 7-like 2 (T-cell specific, HMG-box) | 399291 | 20 | 18 | 18 | 4 | 5 | 5 | 3 | 0 | 7 | 0 | 0.0099 | 0.17 | 0.015 | 2e-07 | 6.3e-08 | 0.0001 |
12 | ACVR2A | activin A receptor, type IIA | 352856 | 10 | 9 | 9 | 1 | 0 | 0 | 4 | 0 | 5 | 1 | 0.081 | 0.0093 | 0.011 | 5.5e-07 | 1.2e-07 | 0.00018 |
13 | SOX9 | SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) | 256394 | 10 | 10 | 10 | 0 | 0 | 0 | 1 | 0 | 8 | 1 | 0.038 | 0.44 | 0.086 | 2.1e-07 | 3.5e-07 | 0.00048 |
14 | ELF3 | E74-like factor 3 (ets domain transcription factor, epithelial-specific ) | 238076 | 6 | 6 | 5 | 0 | 0 | 0 | 1 | 0 | 5 | 0 | 0.0059 | 0.31 | 0.011 | 2e-06 | 4e-07 | 0.00052 |
15 | CRTC1 | CREB regulated transcription coactivator 1 | 348350 | 6 | 6 | 3 | 1 | 1 | 0 | 0 | 0 | 5 | 0 | 0.0017 | 0.05 | 0.0011 | 0.0004 | 6.7e-06 | 0.008 |
16 | TNFRSF10C | tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain | 166486 | 6 | 6 | 2 | 0 | 0 | 6 | 0 | 0 | 0 | 0 | 1e-05 | 1 | 0.000053 | 0.012 | 9.4e-06 | 0.011 |
17 | KIAA1804 | 530272 | 18 | 15 | 16 | 0 | 8 | 7 | 1 | 0 | 2 | 0 | 0.0054 | 0.011 | 0.0047 | 0.0002 | 0.000014 | 0.014 | |
18 | KRTAP5-5 | keratin associated protein 5-5 | 119310 | 4 | 4 | 1 | 1 | 0 | 0 | 0 | 4 | 0 | 0 | 0.0015 | 0.000048 | 0.000048 | 0.029 | 2e-05 | 0.02 |
19 | PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 259135 | 10 | 7 | 8 | 1 | 3 | 2 | 1 | 0 | 3 | 1 | 0.067 | 0.0048 | 0.0062 | 0.00067 | 0.000056 | 0.053 |
20 | ACOT4 | acyl-CoA thioesterase 4 | 214853 | 3 | 3 | 2 | 1 | 0 | 0 | 0 | 0 | 2 | 1 | 0.00023 | 0.021 | 0.00041 | 0.015 | 0.000079 | 0.071 |
21 | MYO1B | myosin IB | 770904 | 15 | 13 | 14 | 2 | 1 | 3 | 4 | 0 | 5 | 2 | 0.017 | 0.94 | 0.033 | 0.00025 | 0.00011 | 0.09 |
22 | PCBP1 | poly(rC) binding protein 1 | 175969 | 6 | 6 | 3 | 0 | 0 | 0 | 6 | 0 | 0 | 0 | 0.0022 | 0.0025 | 0.000077 | 0.12 | 0.00011 | 0.093 |
23 | GGT1 | gamma-glutamyltransferase 1 | 245448 | 3 | 3 | 1 | 1 | 0 | 3 | 0 | 0 | 0 | 0 | 0.000091 | 0.000019 | 0.000018 | 0.96 | 0.00021 | 0.16 |
24 | ACVR1B | activin A receptor, type IB | 338041 | 15 | 14 | 15 | 0 | 4 | 7 | 2 | 0 | 2 | 0 | 0.066 | 0.00044 | 0.0014 | 0.015 | 0.00025 | 0.19 |
25 | CCDC160 | coiled-coil domain containing 160 | 85540 | 9 | 7 | 9 | 0 | 0 | 4 | 0 | 1 | 3 | 1 | 0.81 | 0.32 | 0.64 | 0.000048 | 0.00035 | 0.25 |
26 | CDC27 | cell division cycle 27 homolog (S. cerevisiae) | 508345 | 13 | 10 | 9 | 6 | 3 | 1 | 6 | 0 | 3 | 0 | 0.041 | 0.96 | 0.061 | 0.00052 | 0.00036 | 0.25 |
27 | FAM116A | family with sequence similarity 116, member A | 385867 | 6 | 6 | 6 | 0 | 2 | 1 | 1 | 0 | 2 | 0 | 0.0018 | 0.054 | 0.0018 | 0.029 | 0.00057 | 0.38 |
28 | HTR3B | 5-hydroxytryptamine (serotonin) receptor 3B | 303542 | 6 | 6 | 5 | 1 | 4 | 2 | 0 | 0 | 0 | 0 | 0.45 | 0.00016 | 0.00068 | 0.09 | 0.00066 | 0.42 |
29 | DKK2 | dickkopf homolog 2 (Xenopus laevis) | 175823 | 6 | 6 | 5 | 1 | 6 | 0 | 0 | 0 | 0 | 0 | 0.0012 | 0.11 | 0.00058 | 0.18 | 0.0011 | 0.67 |
30 | SAT1 | spermidine/spermine N1-acetyltransferase 1 | 111190 | 4 | 4 | 2 | 0 | 0 | 0 | 1 | 0 | 3 | 0 | NaN | NaN | NaN | 0.0011 | 0.0011 | 0.67 |
31 | B2M | beta-2-microglobulin | 82047 | 6 | 5 | 5 | 0 | 0 | 1 | 2 | 0 | 2 | 1 | 0.73 | 0.44 | 1 | 0.00011 | 0.0011 | 0.67 |
32 | LOXL2 | lysyl oxidase-like 2 | 479922 | 10 | 9 | 10 | 2 | 7 | 1 | 1 | 0 | 1 | 0 | 0.00084 | 0.84 | 0.002 | 0.065 | 0.0013 | 0.74 |
33 | ZNF593 | zinc finger protein 593 | 41669 | 4 | 4 | 4 | 0 | 1 | 1 | 0 | 0 | 2 | 0 | 0.36 | 0.62 | 1 | 0.00022 | 0.0021 | 1 |
34 | KLK2 | kallikrein-related peptidase 2 | 181855 | 3 | 3 | 1 | 1 | 0 | 3 | 0 | 0 | 0 | 0 | 0.00013 | 0.25 | 0.00043 | 0.54 | 0.0022 | 1 |
35 | MGC26647 | chromosome 7 open reading frame 62 | 169132 | 7 | 7 | 7 | 0 | 1 | 2 | 1 | 0 | 3 | 0 | 0.1 | 0.76 | 0.19 | 0.0013 | 0.0024 | 1 |
In this analysis, COSMIC is used as a filter to increase power by restricting the territory of each gene. Cosmic version: v48.
rank | gene | description | n | cos | n_cos | N_cos | cos_ev | p | q |
---|---|---|---|---|---|---|---|---|---|
1 | APC | adenomatous polyposis coli | 187 | 839 | 137 | 187097 | 2584 | 0 | 0 |
2 | TP53 | tumor protein p53 | 121 | 824 | 121 | 183752 | 44631 | 0 | 0 |
3 | ERBB3 | v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) | 14 | 6 | 6 | 1338 | 6 | 5.8e-14 | 8.8e-11 |
4 | NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog | 20 | 33 | 18 | 7359 | 17998 | 2.6e-13 | 2.9e-10 |
5 | KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | 96 | 52 | 95 | 11596 | 1013913 | 3.9e-13 | 3.5e-10 |
6 | BRAF | v-raf murine sarcoma viral oncogene homolog B1 | 23 | 89 | 20 | 19847 | 287480 | 6.1e-13 | 4e-10 |
7 | FBXW7 | F-box and WD repeat domain containing 7 | 45 | 91 | 31 | 20293 | 1228 | 6.2e-13 | 4e-10 |
8 | SMAD4 | SMAD family member 4 | 29 | 159 | 19 | 35457 | 90 | 9.3e-13 | 5.1e-10 |
9 | KRTAP5-5 | keratin associated protein 5-5 | 4 | 1 | 4 | 223 | 4 | 1.1e-12 | 5.1e-10 |
10 | PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 40 | 220 | 34 | 49060 | 13256 | 1.1e-12 | 5.1e-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)
rank | geneset | description | genes | N_genes | mut_tally | N | n | npat | nsite | nsil | n1 | n2 | n3 | n4 | n5 | n6 | p_ns_s | p | q |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 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) | 9421260 | 307 | 183 | 228 | 28 | 44 | 50 | 43 | 1 | 115 | 54 | 4.99e-13 | <1.00e-15 | <8.55e-14 |
2 | 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(3), AKT1(2), APC(187), ASAH1(3), CAV3(3), DAG1(5), DLG4(3), EPHB2(8), GNAI1(4), GNAQ(4), ITPR1(19), ITPR2(18), ITPR3(12), KCNJ3(6), KCNJ5(4), KCNJ9(3), MAPK1(2), PITX2(2), PTX3(2), RHO(3), RYR1(25) | 14036969 | 318 | 180 | 258 | 58 | 69 | 53 | 28 | 0 | 115 | 53 | 4.95e-07 | <1.00e-15 | <8.55e-14 |
3 | 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 | 13 | APC(187), CDH1(5), CREBBP(25), EP300(15), MAP2K1(4), MAP3K7(4), MAPK3(3), SKIL(1), TGFB1(1), TGFB2(9), TGFBR1(9), TGFBR2(7) | 8368983 | 270 | 175 | 210 | 25 | 34 | 35 | 30 | 1 | 118 | 52 | 1.75e-10 | <1.00e-15 | <8.55e-14 |
4 | ATRBRCAPATHWAY | BRCA1 and 2 block cell cycle progression in response to DNA damage and promote double-stranded break repair; mutations induce breast cancer susceptibility. | ATM, ATR, BRCA1, BRCA2, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, HUS1, MRE11A, NBS1, RAD1, RAD17, RAD50, RAD51, RAD9A, TP53, TREX1 | 21 | ATM(37), ATR(17), BRCA1(6), BRCA2(22), CHEK1(1), CHEK2(1), FANCA(7), FANCC(3), FANCD2(11), FANCF(2), FANCG(4), HUS1(1), MRE11A(8), RAD1(1), RAD17(4), RAD50(11), TP53(121), TREX1(2) | 14298275 | 259 | 148 | 206 | 21 | 80 | 75 | 40 | 2 | 60 | 2 | 6.60e-10 | <1.00e-15 | <8.55e-14 |
5 | ATMPATHWAY | The tumor-suppressing protein kinase ATM responds to radiation-induced DNA damage by blocking cell-cycle progression and activating DNA repair. | ABL1, ATM, BRCA1, CDKN1A, CHEK1, CHEK2, GADD45A, JUN, MAPK8, MDM2, MRE11A, NBS1, NFKB1, NFKBIA, RAD50, RAD51, RBBP8, RELA, TP53, TP73 | 19 | ABL1(4), ATM(37), BRCA1(6), CDKN1A(1), CHEK1(1), CHEK2(1), MAPK8(7), MDM2(4), MRE11A(8), NFKB1(6), RAD50(11), RBBP8(2), RELA(2), TP53(121) | 9687085 | 211 | 145 | 158 | 16 | 67 | 58 | 31 | 3 | 50 | 2 | 1.04e-09 | <1.00e-15 | <8.55e-14 |
6 | SA_G1_AND_S_PHASES | Cdk2, 4, and 6 bind cyclin D in G1, while cdk2/cyclin E promotes the G1/S transition. | ARF1, ARF3, CCND1, CDK2, CDK4, CDKN1A, CDKN1B, CDKN2A, CFL1, E2F1, E2F2, MDM2, NXT1, PRB1, TP53 | 15 | CDK2(2), CDK4(3), CDKN1A(1), CDKN1B(3), CDKN2A(1), CFL1(1), E2F2(1), MDM2(4), NXT1(1), PRB1(1), TP53(121) | 2480575 | 139 | 127 | 87 | 7 | 50 | 26 | 18 | 3 | 42 | 0 | 1.61e-10 | <1.00e-15 | <8.55e-14 |
7 | RNAPATHWAY | dsRNA-activated protein kinase phosphorylates elF2a, which generally inhibits translation, and activates NF-kB to provoke inflammation. | CHUK, DNAJC3, EIF2S1, EIF2S2, MAP3K14, NFKB1, NFKBIA, PRKR, RELA, TP53 | 9 | CHUK(6), DNAJC3(1), EIF2S2(1), MAP3K14(3), NFKB1(6), RELA(2), TP53(121) | 3081784 | 140 | 125 | 88 | 9 | 58 | 24 | 16 | 2 | 40 | 0 | 6.41e-08 | <1.00e-15 | <8.55e-14 |
8 | TELPATHWAY | Telomerase is a ribonucleotide protein that adds telomeric repeats to the 3' ends of chromosomes. | AKT1, BCL2, EGFR, G22P1, HSPCA, IGF1R, KRAS2, MYC, POLR2A, PPP2CA, PRKCA, RB1, TEP1, TERF1, TERT, TNKS, TP53, XRCC5 | 15 | AKT1(2), BCL2(1), EGFR(11), IGF1R(8), POLR2A(6), PPP2CA(1), PRKCA(4), RB1(7), TEP1(7), TERF1(1), TERT(2), TNKS(4), TP53(121), XRCC5(6) | 9118297 | 181 | 143 | 129 | 22 | 74 | 38 | 23 | 3 | 42 | 1 | 6.62e-08 | 1.11e-15 | 8.55e-14 |
9 | ST_GRANULE_CELL_SURVIVAL_PATHWAY | The survival and differentiation of granule cells in the brain is controlled by pro-growth PACAP and pro-apoptotic ceramides. | ADPRT, APC, ASAH1, CAMP, CASP3, CERK, CREB1, CREB3, CREB5, CXCL2, DAG1, EPHB2, FOS, GNAQ, IL8RB, ITPKA, ITPKB, JUN, MAP2K4, MAP2K7, MAPK1, MAPK10, MAPK8, MAPK8IP1, MAPK8IP2, MAPK8IP3, MAPK9, PACAP | 25 | APC(187), ASAH1(3), CASP3(2), CERK(1), CREB1(1), CREB3(3), CREB5(4), DAG1(5), EPHB2(8), FOS(1), GNAQ(4), ITPKB(4), MAP2K4(11), MAPK1(2), MAPK10(8), MAPK8(7), MAPK8IP1(2), MAPK8IP3(2), MAPK9(5) | 9092442 | 260 | 170 | 199 | 25 | 26 | 36 | 28 | 2 | 116 | 52 | 1.65e-11 | 1.33e-15 | 9.12e-14 |
10 | 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(6), AKT3(1), ANKRD6(5), APC(187), AXIN1(2), AXIN2(9), CER1(3), CSNK1A1(2), CTNNB1(12), DACT1(6), DKK1(5), DKK2(6), DKK3(2), DKK4(7), FSTL1(6), GSK3A(2), GSK3B(8), LRP1(17), MVP(4), NKD1(3), NKD2(1), PIN1(1), PSEN1(3), PTPRA(2), SENP2(3), SFRP1(3), TSHB(1), WIF1(2) | 12599173 | 311 | 185 | 249 | 37 | 60 | 43 | 39 | 1 | 116 | 52 | 1.12e-10 | 1.55e-15 | 9.33e-14 |
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]
In addition to the links below, the full results of the analysis summarized in this report can also be downloaded programmatically using firehose_get, or interactively from either the Broad GDAC website or TCGA Data Coordination Center Portal.