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.
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Working with individual set: UCS-TP
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Number of patients in set: 57
The input for this pipeline is a set of individuals with the following files associated for each:
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An annotated .maf file describing the mutations called for the respective individual, and their properties.
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A .wig file that contains information about the coverage of the sample.
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MAF used for this analysis:UCS-TP.final_analysis_set.maf
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Blacklist used for this analysis: pancan_mutation_blacklist.v14.hg19.txt
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Significantly mutated genes (q ≤ 0.1): 8
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Mutations seen in COSMIC: 139
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Significantly mutated genes in COSMIC territory: 13
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Significantly mutated genesets: 104
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Read 57 MAFs of type "Broad"
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Total number of mutations in input MAFs: 11339
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After removing 78 mutations outside chr1-24: 11261
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After removing 432 blacklisted mutations: 10829
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After removing 889 noncoding mutations: 9940
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Number of mutations before filtering: 9940
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After removing 511 mutations outside gene set: 9429
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After removing 38 mutations outside category set: 9391
type | count |
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Frame_Shift_Del | 241 |
Frame_Shift_Ins | 81 |
In_Frame_Del | 66 |
In_Frame_Ins | 10 |
Missense_Mutation | 6146 |
Nonsense_Mutation | 592 |
Nonstop_Mutation | 13 |
Silent | 1922 |
Splice_Site | 284 |
Translation_Start_Site | 36 |
Total | 9391 |
category | n | N | rate | rate_per_mb | relative_rate | exp_ns_s_ratio |
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*CpG->T | 1706 | 95243737 | 0.000018 | 18 | 4 | 2.1 |
*Cp(A/C/T)->T | 829 | 765648006 | 1.1e-06 | 1.1 | 0.24 | 1.7 |
C->(G/A) | 1893 | 860891743 | 2.2e-06 | 2.2 | 0.49 | 4.7 |
A->mut | 1752 | 819427697 | 2.1e-06 | 2.1 | 0.48 | 3.9 |
indel+null | 1257 | 1680319440 | 7.5e-07 | 0.75 | 0.17 | NaN |
double_null | 32 | 1680319440 | 1.9e-08 | 0.019 | 0.0043 | NaN |
Total | 7469 | 1680319440 | 4.4e-06 | 4.4 | 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). If the figure is unpopulated, then full coverage is assumed (e.g. MutSig CV doesn't use WIGs and assumes full coverage).
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:
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N = number of sequenced bases in this gene across the individual set
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n = number of (nonsilent) mutations in this gene across the individual set
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npat = number of patients (individuals) with at least one nonsilent mutation
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nsite = number of unique sites having a non-silent mutation
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nsil = number of silent mutations in this gene across the individual set
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n1 = number of nonsilent mutations of type: *CpG->T
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n2 = number of nonsilent mutations of type: *Cp(A/C/T)->T
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n3 = number of nonsilent mutations of type: C->(G/A)
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n4 = number of nonsilent mutations of type: A->mut
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n5 = number of nonsilent mutations of type: indel+null
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n6 = number of nonsilent mutations of type: double_null
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p_cons = p-value for enrichment of mutations at evolutionarily most-conserved sites in gene
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p_joint = p-value for clustering + conservation
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p = p-value (overall)
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q = q-value, False Discovery Rate (Benjamini-Hochberg procedure)
rank | gene | description | N | n | npat | nsite | nsil | n1 | n2 | n3 | n4 | n5 | n6 | p_clust | p_cons | p_joint | p_cv | p | q |
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1 | FBXW7 | F-box and WD repeat domain containing 7 | 139842 | 24 | 22 | 15 | 0 | 12 | 4 | 5 | 1 | 2 | 0 | 2e-07 | 0.001 | 0 | 4.3e-15 | 0 | 0 |
2 | KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | 36696 | 7 | 7 | 2 | 0 | 0 | 2 | 5 | 0 | 0 | 0 | 0 | 0.047 | 0 | 0.52 | 0 | 0 |
3 | TP53 | tumor protein p53 | 68846 | 55 | 51 | 43 | 0 | 14 | 5 | 11 | 12 | 12 | 1 | 0 | 0 | 0 | 7.8e-16 | 0 | 0 |
4 | PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 186411 | 22 | 20 | 13 | 0 | 3 | 5 | 4 | 10 | 0 | 0 | 0.012 | 0.0027 | 0.00074 | 4.4e-11 | 1e-12 | 4.7e-09 |
5 | PPP2R1A | protein phosphatase 2 (formerly 2A), regulatory subunit A , alpha isoform | 99487 | 17 | 16 | 10 | 0 | 7 | 3 | 7 | 0 | 0 | 0 | 0.000055 | 0.018 | 0.000029 | 2.4e-08 | 2e-11 | 7.2e-08 |
6 | PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 64171 | 15 | 11 | 14 | 0 | 1 | 2 | 4 | 2 | 5 | 1 | 0.15 | 0.73 | 0.28 | 1.3e-10 | 9.3e-10 | 2.8e-06 |
7 | PIK3R1 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | 134194 | 8 | 6 | 8 | 0 | 0 | 1 | 0 | 0 | 7 | 0 | 0.02 | 0.56 | 0.042 | 7.9e-06 | 5.2e-06 | 0.013 |
8 | ZBTB7B | zinc finger and BTB domain containing 7B | 92321 | 7 | 6 | 7 | 0 | 1 | 0 | 2 | 1 | 3 | 0 | 0.38 | 0.022 | 0.077 | 7.8e-06 | 9.2e-06 | 0.021 |
9 | RB1 | retinoblastoma 1 (including osteosarcoma) | 133287 | 6 | 6 | 6 | 0 | 0 | 0 | 0 | 1 | 4 | 1 | 0.78 | 0.7 | 1 | 7.2e-06 | 0.000092 | 0.18 |
10 | BCL2L11 | BCL2-like 11 (apoptosis facilitator) | 34712 | 2 | 2 | 1 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 0.012 | 0.096 | 0.062 | 0.0011 | 0.00073 | 1 |
11 | CHD4 | chromodomain helicase DNA binding protein 4 | 336006 | 12 | 10 | 12 | 0 | 2 | 1 | 0 | 6 | 3 | 0 | 0.089 | 0.037 | 0.053 | 0.002 | 0.0011 | 1 |
12 | SPOP | speckle-type POZ protein | 66102 | 5 | 4 | 5 | 0 | 1 | 0 | 2 | 2 | 0 | 0 | 0.018 | 0.12 | 0.022 | 0.0088 | 0.0018 | 1 |
13 | HCFC1R1 | host cell factor C1 regulator 1 (XPO1 dependent) | 18746 | 2 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 0.21 | 0.61 | 0.35 | 0.0009 | 0.0029 | 1 |
14 | FAM92B | family with sequence similarity 92, member B | 52370 | 3 | 3 | 3 | 0 | 0 | 1 | 1 | 0 | 1 | 0 | 0.35 | 0.015 | 0.044 | 0.0079 | 0.0031 | 1 |
15 | NDUFAF2 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 | 23615 | 3 | 3 | 1 | 0 | 3 | 0 | 0 | 0 | 0 | 0 | NaN | NaN | NaN | 0.0042 | 0.0042 | 1 |
16 | CDK11A | cyclin-dependent kinase 11A | 72275 | 3 | 2 | 3 | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 0.0036 | 0.022 | 0.00062 | 0.93 | 0.0049 | 1 |
17 | YARS | tyrosyl-tRNA synthetase | 92520 | 3 | 3 | 3 | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 0.0018 | 0.3 | 0.0022 | 0.32 | 0.0059 | 1 |
18 | TBXAS1 | thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) | 94215 | 2 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 0.13 | 0.088 | 0.075 | 0.011 | 0.0066 | 1 |
19 | LYPLA2 | lysophospholipase II | 41440 | 3 | 3 | 3 | 0 | 0 | 0 | 1 | 0 | 2 | 0 | 1 | 0.8 | 1 | 0.001 | 0.0081 | 1 |
20 | GPRASP1 | G protein-coupled receptor associated sorting protein 1 | 238270 | 4 | 4 | 4 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0.0015 | 0.31 | 0.004 | 0.26 | 0.0082 | 1 |
21 | MYOZ1 | myozenin 1 | 52440 | 2 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 0.012 | 0.89 | 0.28 | 0.004 | 0.0087 | 1 |
22 | UBE2G1 | ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast) | 28206 | 2 | 2 | 2 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 0.4 | 0.89 | 0.43 | 0.0031 | 0.01 | 1 |
23 | NUDT14 | nudix (nucleoside diphosphate linked moiety X)-type motif 14 | 34351 | 2 | 2 | 2 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | NaN | NaN | NaN | 0.01 | 0.01 | 1 |
24 | U2AF1 | U2 small nuclear RNA auxiliary factor 1 | 46802 | 2 | 2 | 1 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 0.016 | 0.0084 | 0.031 | 0.059 | 0.013 | 1 |
25 | TEX15 | testis expressed 15 | 468146 | 3 | 1 | 3 | 0 | 0 | 0 | 0 | 3 | 0 | 0 | 0.25 | 0.0015 | 0.0022 | 1 | 0.016 | 1 |
26 | HMGN2 | high-mobility group nucleosomal binding domain 2 | 15466 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | NaN | NaN | NaN | 0.017 | 0.017 | 1 |
27 | LYRM2 | LYR motif containing 2 | 14424 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | NaN | NaN | NaN | 0.017 | 0.017 | 1 |
28 | C22orf24 | chromosome 22 open reading frame 24 | 13532 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | NaN | NaN | NaN | 0.017 | 0.017 | 1 |
29 | HBA1 | hemoglobin, alpha 1 | 13301 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | NaN | NaN | NaN | 0.018 | 0.018 | 1 |
30 | ZFP36L1 | zinc finger protein 36, C3H type-like 1 | 58312 | 2 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 0.92 | 0.24 | 0.71 | 0.004 | 0.019 | 1 |
31 | CTCFL | CCCTC-binding factor (zinc finger protein)-like | 115824 | 2 | 2 | 2 | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 0.025 | 0.029 | 0.019 | 0.15 | 0.02 | 1 |
32 | OSTN | osteocrin | 23471 | 2 | 2 | 2 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 0.78 | 0.35 | 0.55 | 0.0052 | 0.02 | 1 |
33 | LYL1 | lymphoblastic leukemia derived sequence 1 | 11886 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | NaN | NaN | NaN | 0.021 | 0.021 | 1 |
34 | IER3 | immediate early response 3 | 22580 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | NaN | NaN | NaN | 0.022 | 0.022 | 1 |
35 | SPANXN1 | SPANX family, member N1 | 12939 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NaN | NaN | NaN | 0.022 | 0.022 | 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 |
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1 | FBXW7 | F-box and WD repeat domain containing 7 | 24 | 91 | 19 | 5187 | 788 | 0 | 0 |
2 | TP53 | tumor protein p53 | 55 | 356 | 52 | 20292 | 16225 | 0 | 0 |
3 | KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | 7 | 52 | 7 | 2964 | 101988 | 0 | 0 |
4 | PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 22 | 220 | 20 | 12540 | 8438 | 0 | 0 |
5 | PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 15 | 767 | 15 | 43719 | 769 | 0 | 0 |
6 | PIK3R1 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | 8 | 33 | 4 | 1881 | 9 | 2e-10 | 1.5e-07 |
7 | ERBB3 | v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) | 5 | 6 | 2 | 342 | 2 | 1.2e-06 | 0.00074 |
8 | RB1 | retinoblastoma 1 (including osteosarcoma) | 6 | 267 | 3 | 15219 | 10 | 0.000049 | 0.028 |
9 | F13A1 | coagulation factor XIII, A1 polypeptide | 1 | 1 | 1 | 57 | 1 | 0.00025 | 0.088 |
10 | FERD3L | Fer3-like (Drosophila) | 2 | 1 | 1 | 57 | 1 | 0.00025 | 0.088 |
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 |
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1 | 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(3), BCL2L1(1), CASP7(1), EIF2S1(1), PXN(1), STAT1(1), TP53(55) | 2302234 | 65 | 53 | 53 | 2 | 16 | 6 | 14 | 13 | 15 | 1 | 4.3e-06 | <1.00e-15 | <8.63e-14 |
2 | 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(6), PML(1), RB1(6), SIRT1(1), TP53(55) | 1613841 | 69 | 52 | 57 | 0 | 18 | 6 | 12 | 14 | 17 | 2 | 5.6e-09 | <1.00e-15 | <8.63e-14 |
3 | NKCELLSPATHWAY | Natural killer (NK) lymphocytes are inhibited by MHC and activated by surface glycoproteins on tumor or virus-infected cells, which undergo perforin-mediated lysis. | B2M, HLA-A, IL18, ITGB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, LAT, MAP2K1, MAPK3, PAK1, PIK3CA, PIK3R1, PTK2B, PTPN6, RAC1, SYK, VAV1 | 20 | ITGB1(1), KLRC3(1), PIK3CA(22), PIK3R1(8), PTPN6(1), RAC1(1) | 1567278 | 34 | 28 | 25 | 1 | 3 | 6 | 5 | 12 | 8 | 0 | 0.004 | 1.22e-15 | 8.63e-14 |
4 | 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(3), CCNA1(1), CCND1(1), CCND2(1), CCNE2(1), CDKN2A(1), CDKN2B(1), E2F1(1), MCM2(1), MCM3(1), MCM5(1), MCM6(1), MCM7(1), MNAT1(1), MYC(2), NACA(2), POLE(1), POLE2(1), RB1(6), RPA1(1), TNXB(3), TP53(55), WEE1(1) | 6583713 | 88 | 54 | 76 | 6 | 20 | 6 | 21 | 21 | 17 | 3 | 5.8e-06 | 1.33e-15 | 8.63e-14 | |
5 | TPOPATHWAY | Thrombopoietin binds to its receptor and activates cell growth through the Erk and JNK MAP kinase pathways, protein kinase C, and JAK/STAT activation. | CSNK2A1, FOS, GRB2, HRAS, JAK2, JUN, MAP2K1, MAPK3, MPL, PIK3CA, PIK3R1, PLCG1, PRKCA, PRKCB1, RAF1, RASA1, SHC1, SOS1, STAT1, STAT3, STAT5A, STAT5B, THPO | 22 | JAK2(2), PIK3CA(22), PIK3R1(8), RASA1(1), STAT1(1), STAT3(2) | 2536692 | 36 | 27 | 27 | 2 | 3 | 7 | 5 | 12 | 9 | 0 | 0.011 | 1.44e-15 | 8.63e-14 |
6 | APOPTOSIS | APAF1, BAD, BAK1, BCL2L7P1, BAX, BCL2, BCL2L1, BCL2L11, BID, BIRC2, BIRC3, BIRC4, BIRC5, BNIP3L, CASP1, CASP10, CASP1, COPl, CASP2, CASP3, CASP4, CASP6, CASP7, CASP8, CASP9, CHUK, CYCS, DFFA, DFFB, FADD, FAS, FASLG, GZMB, HELLS, HRK, IKBKB, IKBKG, IRF1, IRF2, IRF3, IRF4, IRF5, IRF6, IRF7, JUN, LTA, MAP2K4, MAP3K1, MAPK10, MDM2, MYC, NFKB1, NFKBIA, NFKBIB, NFKBIE, PRF1, RELA, RIPK1, TNF, TNFRSF10B, TNFRSF1A, TNFRSF1B, TNFRSF21, TNFRSF25, TNFRSF25, PLEKHG5, TNFSF10, TP53, TP73, TRADD, TRAF1, TRAF2, TRAF3 | 66 | APAF1(2), BCL2L1(1), BCL2L11(2), CASP4(1), CASP7(1), CASP8(2), GZMB(1), HELLS(1), IKBKB(1), IRF2(1), IRF6(1), LTA(1), MAP2K4(1), MAP3K1(1), MAPK10(1), MYC(2), TNFRSF21(1), TP53(55), TP73(1) | 4903224 | 77 | 52 | 64 | 5 | 20 | 7 | 12 | 17 | 20 | 1 | 0.000015 | 1.55e-15 | 8.63e-14 | |
7 | 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(3), ATR(3), BRCA2(5), CHEK2(2), FANCC(1), FANCD2(1), FANCE(1), FANCF(1), FANCG(1), HUS1(1), MRE11A(1), RAD9A(1), TP53(55) | 3685680 | 76 | 52 | 64 | 4 | 16 | 7 | 18 | 19 | 15 | 1 | 6e-05 | 1.55e-15 | 8.63e-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 | MYC(2), POLR2A(2), RB1(6), TEP1(1), TNKS(1), TP53(55) | 2390234 | 67 | 53 | 55 | 2 | 15 | 6 | 11 | 17 | 16 | 2 | 1e-06 | 1.89e-15 | 8.63e-14 |
9 | RASPATHWAY | Ras activation stimulates many signaling cascades, including PI3K/AKT activation to inhibit apoptosis. | AKT1, ARHA, BAD, BCL2L1, CASP9, CDC42, CHUK, ELK1, H2AFX, HRAS, MAP2K1, MAPK3, MLLT7, NFKB1, PIK3CA, PIK3R1, RAC1, RAF1, RALA, RALBP1, RALGDS, RELA, RHOA | 21 | BCL2L1(1), PIK3CA(22), PIK3R1(8), RAC1(1), RALGDS(2) | 1634536 | 34 | 28 | 25 | 1 | 5 | 7 | 5 | 10 | 7 | 0 | 0.0017 | 1.89e-15 | 8.63e-14 |
10 | CDC42RACPATHWAY | PI3 kinase stimulates cell migration by activating cdc42, which activates ARP2/3, which in turn promotes formation of new actin fibers. | ACTR2, ACTR3, ARHA, ARPC1A, ARPC1B, ARPC2, ARPC3, ARPC4, CDC42, PAK1, PDGFRA, PIK3CA, PIK3R1, RAC1, WASL | 14 | ACTR3(1), PIK3CA(22), PIK3R1(8), RAC1(1), WASL(1) | 1132069 | 33 | 27 | 24 | 1 | 4 | 6 | 5 | 11 | 7 | 0 | 0.0047 | 1.89e-15 | 8.63e-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.