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: ACC-TP
-
Number of patients in set: 90
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:ACC-TP.final_analysis_set.maf
-
Blacklist used for this analysis: pancan_mutation_blacklist.v14.hg19.txt
-
Significantly mutated genes (q ≤ 0.1): 218
-
Mutations seen in COSMIC: 60
-
Significantly mutated genes in COSMIC territory: 3
-
Significantly mutated genesets: 20
-
Significantly mutated genesets: (excluding sig. mutated genes):0
-
Read 90 MAFs of type "Baylor-Illumina"
-
Total number of mutations in input MAFs: 20166
-
After removing 1224 blacklisted mutations: 18942
-
After removing 237 noncoding mutations: 18705
-
After collapsing adjacent/redundant mutations: 18696
-
Number of mutations before filtering: 18696
-
After removing 1079 mutations outside gene set: 17617
-
After removing 65 mutations outside category set: 17552
-
After removing 1 "impossible" mutations in
-
gene-patient-category bins of zero coverage: 16407
type | count |
---|---|
Frame_Shift_Del | 506 |
Frame_Shift_Ins | 180 |
In_Frame_Del | 263 |
In_Frame_Ins | 87 |
Missense_Mutation | 10056 |
Nonsense_Mutation | 567 |
Silent | 5668 |
Splice_Site | 224 |
Translation_Start_Site | 1 |
Total | 17552 |
category | n | N | rate | rate_per_mb | relative_rate | exp_ns_s_ratio |
---|---|---|---|---|---|---|
*CpG->T | 1998 | 159474080 | 0.000013 | 13 | 3 | 2.1 |
*CpG->(G/A) | 690 | 159474080 | 4.3e-06 | 4.3 | 1 | 2.7 |
*Cp(A/C/T)->mut | 4860 | 1285484037 | 3.8e-06 | 3.8 | 0.9 | 3.3 |
A->mut | 2509 | 1372092527 | 1.8e-06 | 1.8 | 0.43 | 3.9 |
indel+null | 1765 | 2817050644 | 6.3e-07 | 0.63 | 0.15 | NaN |
double_null | 62 | 2817050644 | 2.2e-08 | 0.022 | 0.0052 | NaN |
Total | 11884 | 2817050644 | 4.2e-06 | 4.2 | 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:
-
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: *CpG->(G/A)
-
n3 = number of nonsilent mutations of type: *Cp(A/C/T)->mut
-
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_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_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_classic | p_ns_s | p_clust | p_cons | p_joint | p | q |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | C16orf3 | chromosome 16 open reading frame 3 | 29072 | 8 | 8 | 3 | 0 | 4 | 0 | 0 | 3 | 1 | 0 | 9.88e-15 | 0.026 | 6e-07 | 0.98 | 8.4e-06 | 0.000 | 0.000 |
2 | ZFPM1 | zinc finger protein, multitype 1 | 133160 | 91 | 47 | 5 | 0 | 1 | 0 | 4 | 0 | 65 | 21 | <1.00e-15 | 0.16 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
3 | GARS | glycyl-tRNA synthetase | 184616 | 35 | 34 | 3 | 6 | 1 | 0 | 33 | 1 | 0 | 0 | 1.03e-14 | 0.27 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
4 | ZNF517 | zinc finger protein 517 | 112718 | 34 | 33 | 2 | 0 | 0 | 0 | 0 | 34 | 0 | 0 | 5.66e-15 | 0.0076 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
5 | LRIG1 | leucine-rich repeats and immunoglobulin-like domains 1 | 282211 | 54 | 31 | 2 | 0 | 0 | 0 | 54 | 0 | 0 | 0 | 1.04e-14 | 6e-08 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
6 | LACTB | lactamase, beta | 116298 | 27 | 27 | 3 | 0 | 0 | 0 | 1 | 25 | 1 | 0 | 2.00e-15 | 0.0012 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
7 | OBSCN | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | 2164618 | 32 | 27 | 14 | 12 | 23 | 1 | 6 | 1 | 1 | 0 | 1.000 | 0.28 | 0 | 0.98 | 0 | <1.00e-15 | <2.25e-13 |
8 | CCDC102A | coiled-coil domain containing 102A | 83550 | 26 | 26 | 1 | 0 | 26 | 0 | 0 | 0 | 0 | 0 | 5.22e-15 | 0.00033 | 0 | 0.96 | 0 | <1.00e-15 | <2.25e-13 |
9 | OPRD1 | opioid receptor, delta 1 | 70226 | 26 | 26 | 1 | 1 | 0 | 0 | 26 | 0 | 0 | 0 | 6.00e-15 | 0.000065 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
10 | MUC5B | mucin 5B, oligomeric mucus/gel-forming | 1541207 | 29 | 25 | 13 | 8 | 3 | 0 | 5 | 21 | 0 | 0 | 0.000716 | 0.47 | 1e-06 | 0.022 | 0 | <1.00e-15 | <2.25e-13 |
11 | TOR3A | torsin family 3, member A | 96841 | 25 | 25 | 1 | 0 | 0 | 0 | 0 | 25 | 0 | 0 | 2.33e-15 | 0.03 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
12 | TRIOBP | TRIO and F-actin binding protein | 620852 | 24 | 23 | 4 | 0 | 0 | 0 | 2 | 21 | 1 | 0 | 9.66e-15 | 0.002 | 0 | 0.98 | 0 | <1.00e-15 | <2.25e-13 |
13 | MAL2 | mal, T-cell differentiation protein 2 | 37122 | 23 | 22 | 2 | 1 | 0 | 0 | 1 | 0 | 22 | 0 | 2.11e-15 | 0.95 | 0 | 0.81 | 0 | <1.00e-15 | <2.25e-13 |
14 | IRX3 | iroquois homeobox 3 | 75820 | 21 | 21 | 1 | 0 | 0 | 0 | 0 | 21 | 0 | 0 | 3.66e-15 | 0.056 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
15 | TPO | thyroid peroxidase | 229899 | 22 | 21 | 3 | 0 | 1 | 0 | 21 | 0 | 0 | 0 | 4.44e-15 | 0.001 | 0 | 0.56 | 0 | <1.00e-15 | <2.25e-13 |
16 | ASPDH | aspartate dehydrogenase domain containing | 74718 | 19 | 19 | 2 | 0 | 0 | 0 | 1 | 18 | 0 | 0 | 3.11e-15 | 0.0084 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
17 | ERCC2 | excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) | 196253 | 19 | 19 | 1 | 0 | 19 | 0 | 0 | 0 | 0 | 0 | 1.89e-15 | 0.0012 | 0 | 0 | 0 | <1.00e-15 | <2.25e-13 |
18 | GLTPD2 | glycolipid transfer protein domain containing 2 | 42201 | 19 | 19 | 1 | 2 | 0 | 19 | 0 | 0 | 0 | 0 | 6.77e-15 | 0.017 | 0 | 0.16 | 0 | <1.00e-15 | <2.25e-13 |
19 | KCNK17 | potassium channel, subfamily K, member 17 | 88332 | 19 | 19 | 2 | 0 | 0 | 0 | 1 | 18 | 0 | 0 | 4.11e-15 | 0.044 | 0 | 0.96 | 0 | <1.00e-15 | <2.25e-13 |
20 | RINL | Ras and Rab interactor-like | 102936 | 19 | 19 | 1 | 0 | 0 | 0 | 19 | 0 | 0 | 0 | 9.33e-15 | 0.003 | 0 | 0.53 | 0 | <1.00e-15 | <2.25e-13 |
21 | ZNF598 | zinc finger protein 598 | 183308 | 20 | 19 | 5 | 2 | 0 | 1 | 3 | 16 | 0 | 0 | 4.33e-15 | 0.23 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
22 | AMDHD1 | amidohydrolase domain containing 1 | 103268 | 18 | 18 | 1 | 15 | 0 | 0 | 0 | 18 | 0 | 0 | 1.000 | 1 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
23 | FAM184B | family with sequence similarity 184, member B | 276441 | 18 | 18 | 3 | 1 | 17 | 0 | 1 | 0 | 0 | 0 | 9.10e-15 | 0.0074 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
24 | MUC2 | mucin 2, oligomeric mucus/gel-forming | 755805 | 21 | 18 | 15 | 8 | 3 | 0 | 16 | 1 | 1 | 0 | 0.231 | 0.5 | 0 | 0.99 | 0 | <1.00e-15 | <2.25e-13 |
25 | C1orf106 | chromosome 1 open reading frame 106 | 159139 | 16 | 16 | 2 | 0 | 15 | 0 | 0 | 1 | 0 | 0 | 8.33e-15 | 0.0062 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
26 | SEMA5B | sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B | 275306 | 17 | 16 | 2 | 0 | 0 | 0 | 1 | 16 | 0 | 0 | 6.11e-15 | 0.043 | 0 | 0.99 | 0 | <1.00e-15 | <2.25e-13 |
27 | ADAD2 | adenosine deaminase domain containing 2 | 153125 | 15 | 15 | 1 | 0 | 0 | 0 | 15 | 0 | 0 | 0 | 1.03e-14 | 0.005 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
28 | KNDC1 | kinase non-catalytic C-lobe domain (KIND) containing 1 | 407586 | 17 | 15 | 5 | 10 | 0 | 0 | 2 | 15 | 0 | 0 | 1.000 | 1 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
29 | PANK2 | pantothenate kinase 2 (Hallervorden-Spatz syndrome) | 122370 | 15 | 15 | 2 | 0 | 0 | 0 | 15 | 0 | 0 | 0 | 2.00e-15 | 0.024 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
30 | ATXN1 | ataxin 1 | 201752 | 15 | 14 | 9 | 1 | 0 | 1 | 4 | 0 | 10 | 0 | 7.11e-15 | 0.4 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
31 | C2orf81 | chromosome 2 open reading frame 81 | 152558 | 15 | 14 | 3 | 0 | 0 | 0 | 0 | 15 | 0 | 0 | 4.55e-15 | 0.029 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
32 | CTNNB1 | catenin (cadherin-associated protein), beta 1, 88kDa | 216091 | 14 | 14 | 9 | 0 | 0 | 0 | 4 | 6 | 4 | 0 | 1.45e-14 | 0.063 | 0 | 0.33 | 0 | <1.00e-15 | <2.25e-13 |
33 | FPGS | folylpolyglutamate synthase | 136084 | 14 | 14 | 2 | 0 | 0 | 0 | 1 | 13 | 0 | 0 | 7.33e-15 | 0.086 | 0 | 1 | 0 | <1.00e-15 | <2.25e-13 |
34 | IDUA | iduronidase, alpha-L- | 116170 | 14 | 14 | 4 | 1 | 2 | 0 | 0 | 12 | 0 | 0 | 8.99e-15 | 0.27 | 4e-07 | 0.0032 | 0 | <1.00e-15 | <2.25e-13 |
35 | SYT8 | synaptotagmin VIII | 99744 | 14 | 14 | 3 | 0 | 14 | 0 | 0 | 0 | 0 | 0 | 2.89e-15 | 0.0034 | 0 | 0.00066 | 0 | <1.00e-15 | <2.25e-13 |
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 | CTNNB1 | catenin (cadherin-associated protein), beta 1, 88kDa | 14 | 138 | 14 | 12420 | 6397 | 0 | 0 |
2 | TP53 | tumor protein p53 | 18 | 356 | 17 | 32040 | 1628 | 0 | 0 |
3 | MEN1 | multiple endocrine neoplasia I | 8 | 208 | 5 | 18720 | 25 | 2.4e-08 | 0.000036 |
4 | ABCA12 | ATP-binding cassette, sub-family A (ABC1), member 12 | 3 | 1 | 1 | 90 | 1 | 0.00038 | 0.22 |
5 | ANKRD30A | ankyrin repeat domain 30A | 6 | 1 | 1 | 90 | 1 | 0.00038 | 0.22 |
6 | CCND2 | cyclin D2 | 1 | 1 | 1 | 90 | 1 | 0.00038 | 0.22 |
7 | KRTAP5-5 | keratin associated protein 5-5 | 6 | 1 | 1 | 90 | 0 | 0.00038 | 0.22 |
8 | LACE1 | lactation elevated 1 | 1 | 1 | 1 | 90 | 1 | 0.00038 | 0.22 |
9 | GRM3 | glutamate receptor, metabotropic 3 | 3 | 2 | 1 | 180 | 1 | 0.00076 | 0.34 |
10 | IGFBP3 | insulin-like growth factor binding protein 3 | 1 | 2 | 1 | 180 | 1 | 0.00076 | 0.34 |
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 | FOLATE_BIOSYNTHESIS | ALPI, ALPL, ALPP, ALPP, ALPPL2, ALPPL2, DHFR, FPGS, GCH1, GGH, SPR | 9 | ALPI(1), ALPP(1), ALPPL2(8), FPGS(14), SPR(1) | 921600 | 25 | 23 | 7 | 2 | 0 | 9 | 3 | 13 | 0 | 0 | 0.041 | 1.4e-13 | 8.4e-11 | |
2 | STILBENE_COUMARINE_AND_LIGNIN_BIOSYNTHESIS | EPX, GBA3, LPO, MPO, PRDX1, PRDX2, PRDX5, PRDX6, TPO, TYR | 10 | EPX(1), PRDX1(1), PRDX2(2), TPO(22) | 1336570 | 26 | 25 | 7 | 2 | 3 | 0 | 21 | 0 | 2 | 0 | 0.016 | 2.9e-09 | 8.9e-07 | |
3 | HSA00940_PHENYLPROPANOID_BIOSYNTHESIS | Genes involved in phenylpropanoid biosynthesis | EPX, GBA, GBA3, LPO, MPO, PRDX6, TPO | 7 | EPX(1), TPO(22) | 1154920 | 23 | 22 | 4 | 2 | 2 | 0 | 21 | 0 | 0 | 0 | 0.018 | 3.8e-08 | 7.8e-06 |
4 | 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 | ARF3(1), CDKN2A(2), MDM2(2), TP53(18) | 1124314 | 23 | 18 | 23 | 2 | 2 | 0 | 7 | 1 | 12 | 1 | 0.1 | 3.2e-07 | 5e-05 |
5 | METHANE_METABOLISM | ADH5, ATP6V0C, SHMT1, CAT, EPX, LPO, MPO, PRDX1, PRDX2, PRDX5, PRDX6, SHMT1, SHMT2, TPO | 13 | ATP6V0C(1), EPX(1), PRDX1(1), PRDX2(2), SHMT2(1), TPO(22) | 1628686 | 28 | 27 | 9 | 3 | 4 | 0 | 22 | 0 | 2 | 0 | 0.025 | 4.2e-07 | 0.000051 | |
6 | 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(1), DAXX(4), PML(2), RARA(1), RB1(2), SIRT1(1), TNFRSF1A(1), TP53(18) | 2553179 | 30 | 24 | 30 | 2 | 3 | 1 | 7 | 1 | 17 | 1 | 0.046 | 6.2e-07 | 0.000063 |
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 | NFKB1(1), TP53(18) | 1391271 | 19 | 17 | 19 | 1 | 2 | 0 | 5 | 1 | 10 | 1 | 0.12 | 2.3e-06 | 0.0002 |
8 | PLK3PATHWAY | Active Plk3 phosphorylates CDC25c, blocking the G2/M transition, and phosphorylates p53 to induce apoptosis. | ATM, ATR, CDC25C, CHEK1, CHEK2, CNK, TP53, YWHAH | 7 | ATM(5), ATR(3), CHEK2(2), TP53(18) | 2105624 | 28 | 24 | 28 | 4 | 3 | 0 | 6 | 3 | 15 | 1 | 0.48 | 3e-06 | 0.00022 |
9 | 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(1), ATM(5), MDM2(2), RB1(2), TIMP3(1), TP53(18) | 2416850 | 29 | 23 | 29 | 3 | 2 | 0 | 6 | 1 | 19 | 1 | 0.21 | 3.2e-06 | 0.00022 |
10 | GSPATHWAY | Activated G-protein coupled receptors stimulate cAMP production and thus activate protein kinase A, involved in a number of signal transduction pathways. | ADCY1, GNAS, GNB1, GNGT1, PRKACA, PRKAR1A | 6 | ADCY1(1), GNAS(5), GNB1(2), PRKACA(1), PRKAR1A(7) | 921215 | 16 | 15 | 15 | 2 | 1 | 0 | 3 | 2 | 10 | 0 | 0.51 | 0.000047 | 0.0027 |
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 | BBCELLPATHWAY | Fas ligand expression by T cells induces apoptosis in Fas-expressing, inactive B cells. | CD28, CD4, HLA-DRA, HLA-DRB1, TNFRSF5, TNFRSF6, TNFSF5, TNFSF6 | 4 | HLA-DRB1(3) | 328912 | 3 | 3 | 3 | 1 | 0 | 0 | 2 | 1 | 0 | 0 | 0.74 | 0.061 | 1 |
2 | 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 | CCL11(1), CCR3(1), HLA-DRB1(3), IL3(1) | 407360 | 6 | 5 | 6 | 2 | 0 | 0 | 4 | 2 | 0 | 0 | 0.68 | 0.083 | 1 |
3 | CAPROLACTAM_DEGRADATION | AKR1A1, ECHS1, EHHADH, HADHA, SDS | 5 | AKR1A1(1), ECHS1(2), EHHADH(1), HADHA(1), SDS(1) | 665589 | 6 | 5 | 6 | 0 | 1 | 0 | 2 | 1 | 2 | 0 | 0.24 | 0.089 | 1 | |
4 | ARGININECPATHWAY | Related catabolic pathways process arginine, histidine, glutamine, and proline through glutamate to alpha-ketoglutamate, which feeds into the citric acid cycle. | ALDH4A1, ARG1, GLS, GLUD1, OAT, PRODH | 6 | GLUD1(1), PRODH(4) | 808834 | 5 | 5 | 4 | 0 | 1 | 1 | 0 | 3 | 0 | 0 | 0.25 | 0.09 | 1 |
5 | HSA00472_D_ARGININE_AND_D_ORNITHINE_METABOLISM | Genes involved in D-arginine and D-ornithine metabolism | DAO | 1 | DAO(1) | 97560 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0.72 | 0.096 | 1 |
6 | CYSTEINE_METABOLISM | CARS, CTH, GOT1, GOT2, LDHA, LDHB, LDHC, MPST | 8 | CTH(1), GOT1(1), GOT2(2), LDHA(3) | 910674 | 7 | 7 | 7 | 2 | 3 | 0 | 2 | 1 | 1 | 0 | 0.65 | 0.099 | 1 | |
7 | HSA00401_NOVOBIOCIN_BIOSYNTHESIS | Genes involved in novobiocin biosynthesis | GOT1, GOT2, TAT | 3 | GOT1(1), GOT2(2) | 356738 | 3 | 3 | 3 | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 0.4 | 0.11 | 1 |
8 | SULFUR_METABOLISM | BPNT1, PAPSS1, PAPSS2, SULT1A2, SULT1A3, SULT1A3, SULT1A4, SULT1E1, SULT2A1, SUOX | 7 | BPNT1(3), PAPSS2(1), SUOX(2) | 815298 | 6 | 5 | 6 | 1 | 0 | 0 | 3 | 0 | 2 | 1 | 0.78 | 0.12 | 1 | |
9 | UBIQUINONE_BIOSYNTHESIS | NDUFA1, NDUFA10, NDUFA11, NDUFA4, NDUFA5, NDUFA8, NDUFB2, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFS1, NDUFS2, NDUFV1, NDUFV2 | 15 | NDUFA1(1), NDUFA10(2), NDUFB5(2), NDUFB7(1), NDUFS2(1) | 964591 | 7 | 6 | 7 | 0 | 1 | 0 | 4 | 0 | 2 | 0 | 0.22 | 0.13 | 1 | |
10 | HSA00730_THIAMINE_METABOLISM | Genes involved in thiamine metabolism | LHPP, MTMR1, MTMR2, MTMR6, NFS1, PHPT1, THTPA, TPK1 | 8 | LHPP(2), MTMR1(1), MTMR2(1) | 869921 | 4 | 4 | 3 | 1 | 0 | 3 | 0 | 0 | 1 | 0 | 0.7 | 0.14 | 1 |
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.