Colon/Rectal Adenocarcinoma: Mutation Analysis (MutSig)
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

Significantly mutated genes (q ≤ 0.1): 283

Mutations seen in COSMIC: 739

Significantly mutated genes in COSMIC territory: 29

Genes with clustered mutations (&le 3 aa apart): 1771

Significantly mutated genesets: 232

Significantly mutated genesets: (excluding sig. mutated genes): 60

Results
Breakdown of Mutations by Type

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

type count
De_novo_Start_InFrame 22
De_novo_Start_OutOfFrame 158
Frame_Shift_Del 1290
Frame_Shift_Ins 916
In_Frame_Del 166
In_Frame_Ins 28
Indel 1
Missense_Mutation 54509
Nonsense_Mutation 5082
Nonstop_Mutation 12
Read-through 34
Silent 19249
Splice_Site 192
Start_Codon_DNP 2
Total 81661
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 20515 369939104 0.000055 55 6
*Cp(A/C/T)->mut 21186 3041594232 7e-06 7 0.75
A->mut 12242 3284997724 3.7e-06 3.7 0.4
*CpG->(G/A) 568 369939104 1.5e-06 1.5 0.16
indel+null 7593 6696531284 1.1e-06 1.1 0.12
double_null 308 6696531284 4.6e-08 0.046 0.0049
Total 62412 6696531284 9.3e-06 9.3 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. 

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

Table 3.  Get Full Table A Ranked List of Significantly Mutated Genes. Number of significant genes found: 283. Number of genes displayed: 35

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 <1.00e-15 2e-07 0.87 0.000019 <0.00 <0.00
2 FBXW7 F-box and WD repeat domain containing 7 578816 45 38 28 2 23 6 5 2 9 0 <1.00e-15 0.000029 0.018 0.000024 <0.00 <0.00
3 SMAD4 SMAD family member 4 381472 29 26 22 0 10 6 9 0 3 1 1.55e-15 0.025 0.00048 0.00016 0.00 0.00
4 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 131264 20 20 8 0 2 14 4 0 0 0 <1.00e-15 0.000012 0.098 0.000015 <0.00 <0.00
5 FAM123B family with sequence similarity 123B 743964 27 25 24 2 1 3 4 0 19 0 <1.00e-15 0.0018 0.73 0.0046 <2.22e-16 <8.01e-13
6 TP53 tumor protein p53 289720 122 120 69 2 48 22 12 2 38 0 <1.00e-15 2e-07 2e-07 0 <1.00e-15 <1.50e-12
7 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 158368 96 96 11 0 0 91 4 0 1 0 <1.00e-15 2e-07 0.000072 0 <1.00e-15 <1.50e-12
8 PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide 736288 40 33 21 2 6 20 14 0 0 0 <1.00e-15 0.0013 2e-06 0 <1.00e-15 <1.50e-12
9 BRAF v-raf murine sarcoma viral oncogene homolog B1 499744 23 22 4 0 0 0 23 0 0 0 5.62e-13 2e-07 2e-07 0 <1.00e-15 <1.50e-12
10 GGT1 gamma-glutamyltransferase 1 358400 3 3 1 1 0 3 0 0 0 0 0.62 3.6e-06 3.6e-06 0 <1.00e-15 <1.50e-12
11 OSTN osteocrin 92736 3 3 2 0 2 0 1 0 0 0 0.053 0.25 0.038 0 <1.00e-15 <1.50e-12
12 MUTYH mutY homolog (E. coli) 383768 2 2 2 3 1 0 0 0 1 0 0.57 0.25 0.022 0 <1.00e-15 <1.50e-12
13 SMAD2 SMAD family member 2 323456 16 15 12 1 3 5 3 0 5 0 1.67e-14 0.0086 0.12 0.0094 5.88e-15 8.16e-12
14 LRP1B low density lipoprotein-related protein 1B (deleted in tumors) 3172736 76 39 74 18 11 34 23 0 5 3 1.22e-15 0.5 0.79 0.6 2.64e-14 3.40e-11
15 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 453708 20 18 18 4 5 5 3 0 7 0 3.46e-13 0.0047 0.096 0.0062 7.44e-14 8.94e-11
16 FAT4 FAT tumor suppressor homolog 4 (Drosophila) 3346084 74 40 74 21 19 30 19 1 5 0 6.37e-10 0.00035 0.43 0.00086 1.60e-11 1.81e-08
17 TTN titin 24865216 291 86 286 78 82 114 72 3 13 7 2.01e-12 0.53 0.87 0.58 3.34e-11 3.54e-08
18 DMD dystrophin (muscular dystrophy, Duchenne and Becker types) 2608328 47 33 46 6 10 14 14 0 9 0 2.57e-11 0.04 0.73 0.074 5.34e-11 5.35e-08
19 ACVR1B activin A receptor, type IB 340816 15 14 15 0 4 7 2 0 2 0 1.04e-08 0.059 0.00021 0.00065 1.80e-10 1.71e-07
20 ARID1A AT rich interactive domain 1A (SWI-like) 1311268 22 21 20 3 2 5 1 1 13 0 1.75e-11 0.52 0.25 0.46 2.13e-10 1.92e-07
21 ATM ataxia telangiectasia mutated 2109720 37 25 36 3 4 18 5 0 8 2 1.75e-10 0.27 0.17 0.18 7.91e-10 6.80e-07
22 WBSCR17 Williams-Beuren syndrome chromosome region 17 403312 19 19 18 3 10 5 1 0 3 0 3.14e-10 0.081 0.65 0.13 1.05e-09 8.61e-07
23 MAP2K4 mitogen-activated protein kinase kinase 4 252000 11 11 10 1 3 4 2 0 2 0 1.25e-08 0.047 0.032 0.019 5.52e-09 4.33e-06
24 PCDH9 protocadherin 9 835520 26 22 26 7 3 11 11 0 1 0 2.93e-10 0.92 0.88 1 6.73e-09 5.05e-06
25 ZC3H13 zinc finger CCCH-type containing 13 1066016 26 21 25 1 8 2 1 0 15 0 6.97e-10 0.5 0.35 0.61 9.65e-09 6.96e-06
26 ACVR2A activin A receptor, type IIA 355264 10 9 9 1 0 0 4 0 5 1 1.79e-07 0.078 0.0074 0.006 2.32e-08 0.000016
27 TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 177840 6 6 2 0 0 6 0 0 0 0 0.000055 5.2e-06 1 0.000034 3.91e-08 0.000026
28 KIAA1804 540708 18 15 16 0 8 7 1 0 2 0 7.45e-07 0.0057 0.011 0.0033 5.19e-08 0.000033
29 LIFR leukemia inhibitory factor receptor alpha 754200 24 18 24 5 4 6 9 1 4 0 1.08e-08 0.52 0.52 0.62 1.33e-07 0.000082
30 SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) 268720 10 10 10 0 0 0 1 0 8 1 1.63e-07 0.048 0.42 0.061 1.94e-07 0.00012
31 KRTAP5-5 keratin associated protein 5-5 131768 4 4 1 1 0 0 0 4 0 0 0.00032 0.00062 0.000023 0.000032 2.00e-07 0.00012
32 ATP10A ATPase, class V, type 10A 971776 21 19 21 12 8 6 2 1 4 0 9.25e-07 0.018 0.69 0.031 5.23e-07 0.00029
33 TXNDC3 thioredoxin domain containing 3 (spermatozoa) 409248 14 11 14 2 3 3 3 0 5 0 4.03e-08 0.47 0.82 0.73 5.42e-07 0.00030
34 RAB40C RAB40C, member RAS oncogene family 182616 3 3 1 0 0 0 0 0 3 0 0.052 8e-07 0.22 1e-06 9.32e-07 0.00049
35 PCBP1 poly(rC) binding protein 1 229712 6 6 3 0 0 0 6 0 0 0 0.0016 0.0015 0.0016 0.000043 1.18e-06 0.00061

Note:

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 .

null - mutation category that includes nonsense, frameshift, splice-site mutations

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 = p-value (overall)

q = q-value, False Discovery Rate (Benjamini-Hochberg procedure)

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: 29. Number of genes displayed: 10

rank gene description n cos n_cos N_cos cos_ev p q
1 APC adenomatous polyposis coli 187 838 137 187712 2553 0 0
2 TP53 tumor protein p53 122 823 122 184352 45406 0 0
3 ERBB3 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) 14 6 6 1344 6 6.2e-14 9.3e-11
4 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 20 28 18 6272 17998 2.5e-13 2.8e-10
5 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 96 51 95 11424 1013913 4.4e-13 3.9e-10
6 BRAF v-raf murine sarcoma viral oncogene homolog B1 23 88 20 19712 210160 7e-13 4.4e-10
7 FBXW7 F-box and WD repeat domain containing 7 45 91 31 20384 1228 7.1e-13 4.4e-10
8 KRTAP5-5 keratin associated protein 5-5 4 1 4 224 4 7.8e-13 4.4e-10
9 SMAD4 SMAD family member 4 29 159 19 35616 90 1.1e-12 5.4e-10
10 PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide 40 184 34 41216 13256 1.2e-12 5.4e-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
6684 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 96 0 2294 2964 3043 2294 2964 3043
13084 TP53 tumor protein p53 122 0 280 459 747 280 459 747
1263 BRAF v-raf murine sarcoma viral oncogene homolog B1 23 0 190 190 190 190 190 190
648 APC adenomatous polyposis coli 187 0 166 221 326 166 221 326
4557 FBXW7 F-box and WD repeat domain containing 7 45 0 81 87 105 81 87 105
9500 PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide 40 0 74 111 136 74 111 136
8433 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 20 0 61 73 73 61 73 73
11794 SMAD4 SMAD family member 4 29 0 24 30 56 24 30 56
4382 FAM22F family with sequence similarity 22, member F 10 0 15 15 15 15 15 15
4126 ERBB3 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) 14 0 10 15 15 10 15 15

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: 232. 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(9), 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(6), NFATC3(5), NFATC4(5), NKD1(3), NKD2(1), NLK(2), PLCB1(8), PLCB2(3), PLCB3(4), PLCB4(10), PORCN(2), PPARD(2), PPP2CA(1), PPP2CB(2), PPP2R1A(5), 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 898 218 762 158 276 207 133 8 221 53 <1.00e-15 <1.21e-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(2), BDKRB2(3), BRAF(23), CD14(1), CDC42(1), CFL1(1), CHRM1(3), CHRM2(11), CHRM3(4), CHRM4(1), CHRM5(2), CRKL(2), CSK(4), CYFIP1(6), CYFIP2(5), DIAPH1(1), DIAPH2(12), DIAPH3(5), DOCK1(7), EGF(3), EGFR(12), EZR(2), F2(4), F2R(1), FGD1(8), FGD3(2), FGF1(2), FGF11(3), FGF12(3), FGF13(3), FGF14(5), FGF17(1), FGF19(1), FGF20(2), FGF21(2), FGF23(1), FGF3(1), FGF5(4), FGF6(3), FGF7(1), FGF8(1), FGF9(1), FGFR1(4), FGFR2(6), FGFR3(2), FGFR4(2), FN1(22), GIT1(3), GNA12(2), GNA13(2), GRLF1(12), IQGAP1(13), IQGAP2(12), IQGAP3(12), 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(6), 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(18), TIAM2(16), TMSL3(1), VAV1(13), VAV2(4), VAV3(12), VCL(2), WAS(1), WASF1(3), WASF2(2), WASL(7) 94731820 1197 217 992 278 337 395 205 8 196 56 <1.00e-15 <1.21e-14
3 HSA04010_MAPK_SIGNALING_PATHWAY Genes involved in MAPK signaling pathway ACVR1B, ACVR1C, AKT1, AKT2, AKT3, ARRB1, ARRB2, ATF2, ATF4, BDNF, BRAF, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4, CACNB1, CACNB2, CACNB3, CACNB4, CACNG1, CACNG2, CACNG3, CACNG4, CACNG5, CACNG6, CACNG7, CACNG8, CASP3, CD14, CDC25B, CDC42, CHP, CHUK, CRK, CRKL, DAXX, DDIT3, DUSP1, DUSP10, DUSP14, DUSP16, DUSP2, DUSP3, DUSP4, DUSP5, DUSP6, DUSP7, DUSP8, DUSP9, ECSIT, EGF, EGFR, ELK1, ELK4, EVI1, FAS, FASLG, 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, FLNA, FLNB, FLNC, FOS, GADD45A, GADD45B, GADD45G, GNA12, GNG12, GRB2, HRAS, IKBKB, IKBKG, IL1A, IL1B, IL1R1, IL1R2, JUN, JUND, KRAS, LOC653852, MAP2K1, MAP2K1IP1, MAP2K2, MAP2K3, MAP2K4, MAP2K5, MAP2K6, MAP2K7, MAP3K1, MAP3K10, MAP3K12, MAP3K13, MAP3K14, MAP3K2, MAP3K3, MAP3K4, MAP3K5, MAP3K6, MAP3K7, MAP3K7IP1, MAP3K7IP2, MAP3K8, MAP4K1, MAP4K2, MAP4K3, MAP4K4, MAPK1, MAPK10, MAPK11, MAPK12, MAPK13, MAPK14, MAPK3, MAPK7, MAPK8, MAPK8IP1, MAPK8IP2, MAPK8IP3, MAPK9, MAPKAPK2, MAPKAPK3, MAPKAPK5, MAPT, MAX, MEF2C, MKNK1, MKNK2, MOS, MRAS, MYC, NF1, NFATC2, NFATC4, NFKB1, NFKB2, NGFB, NLK, NR4A1, NRAS, NTF3, NTF5, NTRK1, NTRK2, PAK1, PAK2, PDGFA, PDGFB, PDGFRA, PDGFRB, PLA2G10, PLA2G12A, PLA2G12B, PLA2G1B, PLA2G2A, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G3, PLA2G4A, PLA2G5, PLA2G6, PPM1A, PPM1B, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PPP5C, PRKACA, PRKACB, PRKACG, PRKCA, PRKCB1, PRKCG, PRKX, PRKY, PTPN5, PTPN7, PTPRR, RAC1, RAC2, RAC3, RAF1, RAP1A, RAP1B, RAPGEF2, RASA1, RASA2, RASGRF1, RASGRF2, RASGRP1, RASGRP2, RASGRP3, RASGRP4, RPS6KA1, RPS6KA2, RPS6KA3, RPS6KA4, RPS6KA5, RPS6KA6, RRAS, RRAS2, SOS1, SOS2, SRF, STK3, STK4, STMN1, TAOK1, TAOK2, TAOK3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNF, TNFRSF1A, TP53, TRAF2, TRAF6, ZAK 247 ACVR1B(15), ACVR1C(3), AKT1(2), AKT2(6), AKT3(1), ARRB1(1), ATF2(1), ATF4(1), BDNF(1), BRAF(23), CACNA1A(17), CACNA1B(11), CACNA1C(12), CACNA1D(9), CACNA1E(21), CACNA1F(14), CACNA1G(11), CACNA1H(2), CACNA1I(5), CACNA1S(15), CACNA2D1(11), CACNA2D2(1), CACNA2D3(6), CACNA2D4(3), CACNB1(1), CACNB2(6), CACNB3(2), CACNB4(2), CACNG1(2), CACNG2(3), CACNG3(8), CACNG4(2), CACNG5(5), CACNG6(1), CACNG7(6), CACNG8(1), CASP3(2), CD14(1), CDC25B(5), CDC42(1), CHUK(6), CRKL(2), DAXX(1), DUSP1(2), DUSP10(5), DUSP16(5), DUSP3(1), DUSP4(1), DUSP5(2), DUSP6(5), DUSP7(2), DUSP9(1), ECSIT(3), EGF(3), EGFR(12), ELK4(2), FAS(2), FASLG(1), FGF1(2), FGF11(3), FGF12(3), FGF13(3), FGF14(5), FGF17(1), FGF19(1), FGF20(2), FGF21(2), FGF23(1), FGF3(1), FGF5(4), FGF6(3), FGF7(1), FGF8(1), FGF9(1), FGFR1(4), FGFR2(6), FGFR3(2), FGFR4(2), FLNA(3), FLNB(16), FLNC(13), FOS(1), GNA12(2), GRB2(3), IKBKB(4), IL1A(1), IL1B(1), IL1R1(4), IL1R2(7), KRAS(96), MAP2K1(4), MAP2K2(1), MAP2K3(6), MAP2K4(11), MAP2K5(4), MAP2K6(3), MAP3K1(8), MAP3K10(3), MAP3K12(6), MAP3K13(9), MAP3K14(3), MAP3K2(3), MAP3K3(3), MAP3K4(18), MAP3K5(7), MAP3K6(6), MAP3K7(4), MAP3K8(2), MAP4K1(3), MAP4K2(1), MAP4K3(4), MAP4K4(8), MAPK1(2), MAPK10(8), MAPK12(2), MAPK13(1), MAPK14(3), MAPK3(3), MAPK7(3), MAPK8(7), MAPK8IP1(4), MAPK8IP3(2), MAPK9(5), MAPKAPK2(3), MAPKAPK3(1), MAPKAPK5(1), MAPT(5), MAX(1), MEF2C(9), MKNK1(1), MKNK2(3), MOS(3), MRAS(1), NF1(9), NFATC2(6), NFATC4(5), NFKB1(6), NFKB2(4), NLK(2), NR4A1(2), NRAS(20), NTF3(1), NTRK1(7), NTRK2(4), PAK1(5), PAK2(3), PDGFA(1), PDGFRA(17), PDGFRB(6), PLA2G1B(1), PLA2G2F(1), PLA2G4A(8), PLA2G6(4), PPM1A(7), PPM1B(2), PPP3CA(3), PPP3CB(5), PPP3CC(4), PPP3R1(1), PPP3R2(1), PPP5C(4), PRKACA(1), PRKACB(1), PRKACG(3), PRKCA(4), PRKCG(10), PRKX(2), PTPN5(1), PTPN7(2), PTPRR(5), RAF1(6), RAP1A(2), RAP1B(2), RAPGEF2(13), RASA1(9), RASA2(3), RASGRF1(12), RASGRF2(9), RASGRP1(5), RASGRP2(7), RASGRP3(7), RASGRP4(2), RPS6KA1(1), RPS6KA2(10), RPS6KA3(5), RPS6KA5(6), RPS6KA6(7), RRAS2(2), SOS1(7), SOS2(11), SRF(3), STK3(3), STK4(3), STMN1(2), TAOK1(5), TAOK2(3), TAOK3(4), TGFB1(1), TGFB2(9), TGFBR1(9), TGFBR2(7), TNFRSF1A(1), TP53(122), TRAF2(1), TRAF6(4), ZAK(6) 98648272 1157 213 971 313 406 378 217 10 140 6 <1.00e-15 <1.21e-14
4 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(12), 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(7), PIK3CA(40), PIK3CD(3), PIK3R1(10), PITX2(2), PTX3(2), RAF1(6), SRC(3) 18222276 404 191 305 62 78 75 76 0 120 55 <1.00e-15 <1.21e-14
5 WNT_SIGNALING Wnt signaling genes APC, ARHA, AXIN1, C2orf31, CCND1, CCND2, CCND3, CSNK1E, CSNK1E, LOC400927, CTNNB1, DIPA, DVL1, DVL2, DVL3, FBXW2, FOSL1, FRAT1, FZD1, FZD10, FZD2, FZD3, FZD5, FZD6, FZD7, FZD8, FZD9, GSK3B, JUN, LDLR, MAPK10, MAPK9, MYC, PAFAH1B1, PLAU, PPP2R5C, PPP2R5E, PRKCA, PRKCB1, PRKCD, PRKCE, PRKCG, PRKCH, PRKCI, PRKCM, PRKCQ, PRKCZ, PRKD1, RAC1, RHOA, SFRP4, TCF7, WNT1, WNT10A, WNT10B, WNT11, WNT16, WNT2, WNT2B, WNT3, WNT4, WNT5A, WNT5B, WNT6, WNT7A, WNT7B 58 APC(187), AXIN1(2), CCND2(1), CCND3(1), CTNNB1(12), DVL2(9), DVL3(4), FBXW2(3), FZD1(1), FZD10(6), FZD2(2), FZD3(13), FZD6(6), FZD7(3), FZD8(1), GSK3B(8), LDLR(5), MAPK10(8), MAPK9(5), PAFAH1B1(3), PLAU(3), PPP2R5C(3), PPP2R5E(2), PRKCA(4), PRKCD(3), PRKCE(6), PRKCG(10), PRKCH(3), PRKCI(4), PRKCQ(5), PRKD1(15), RHOA(5), SFRP4(4), TCF7(6), WNT1(1), WNT10B(4), WNT11(3), WNT16(2), WNT2(1), WNT2B(3), WNT3(4), WNT4(1), WNT5A(3), WNT6(1), WNT7A(2), WNT7B(2) 19830148 380 187 317 62 83 73 42 2 128 52 <1.00e-15 <1.21e-14
6 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(11), 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 319 185 257 34 50 54 35 1 127 52 <1.00e-15 <1.21e-14
7 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(8), 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 308 183 228 28 45 50 43 1 115 54 <1.00e-15 <1.21e-14
8 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(18), 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), CDKN2C(1), CHEK1(1), CHEK2(1), CREBBP(25), CUL1(9), DBF4(5), E2F2(1), E2F3(2), EP300(15), ESPL1(8), GSK3B(8), HDAC1(2), HDAC2(2), MAD1L1(2), MAD2L1(1), MAD2L2(1), MCM3(4), MCM4(4), MCM5(6), MCM6(4), MCM7(3), MDM2(4), ORC1L(1), ORC3L(1), ORC4L(1), ORC5L(1), PCNA(3), PKMYT1(1), PLK1(9), 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(2) 46359792 565 183 493 106 172 161 112 9 107 4 <1.00e-15 <1.21e-14
9 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 80 AIFM1(2), AKT1(2), AKT2(6), AKT3(1), APAF1(8), ATM(37), BAD(1), BAX(1), BCL2(1), BCL2L1(1), BID(1), BIRC2(4), BIRC3(7), CAPN1(2), CAPN2(7), CASP10(2), CASP3(2), CASP6(2), CASP7(1), CASP8(11), CASP9(2), CFLAR(3), CHUK(6), CSF2RB(7), DFFA(3), DFFB(2), FAS(2), FASLG(1), IKBKB(4), IL1A(1), IL1B(1), IL1R1(4), IL1RAP(1), IL3(3), IRAK1(1), IRAK2(8), IRAK3(3), IRAK4(4), MAP3K14(3), MYD88(2), NFKB1(6), NFKB2(4), NTRK1(7), PIK3CA(40), PIK3CB(2), PIK3CD(3), PIK3CG(14), PIK3R1(10), PIK3R2(1), PIK3R3(4), PIK3R5(1), PPP3CA(3), PPP3CB(5), PPP3CC(4), PPP3R1(1), PPP3R2(1), PRKACA(1), PRKACB(1), PRKACG(3), PRKAR1A(5), PRKAR1B(1), PRKAR2B(3), RELA(2), RIPK1(2), TNFRSF10A(3), TNFRSF10B(6), TNFRSF10C(6), TNFRSF10D(1), TNFRSF1A(1), TNFSF10(1), TP53(122), TRADD(1), TRAF2(1) 28091296 426 181 344 69 137 131 74 2 78 4 <1.00e-15 <1.21e-14
10 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) 15764424 318 180 258 59 69 53 28 0 115 53 <1.00e-15 <1.21e-14

Table 7.  Get Full Table A Ranked List of Significantly Mutated Genesets (Excluding Significantly Mutated Genes). Number of significant genesets found: 60. 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 HSA04514_CELL_ADHESION_MOLECULES Genes involved in cell adhesion molecules (CAMs) ALCAM, CADM1, CADM3, CD2, CD22, CD226, CD274, CD276, CD28, CD34, CD4, CD40, CD40LG, CD58, CD6, CD80, CD86, CD8A, CD8B, CD99, CDH1, CDH15, CDH2, CDH3, CDH4, CDH5, CLDN1, CLDN10, CLDN11, CLDN14, CLDN15, CLDN16, CLDN17, CLDN18, CLDN19, CLDN2, CLDN20, CLDN22, CLDN23, CLDN3, CLDN4, CLDN5, CLDN6, CLDN7, CLDN8, CLDN9, CNTN1, CNTN2, CNTNAP1, CNTNAP2, CTLA4, ESAM, F11R, GLG1, HLA-A, HLA-A29.1, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5, HLA-E, HLA-F, HLA-G, ICAM1, ICAM2, ICAM3, ICOS, ICOSLG, ITGA4, ITGA6, ITGA8, ITGA9, ITGAL, ITGAM, ITGAV, ITGB1, ITGB2, ITGB7, ITGB8, JAM2, JAM3, L1CAM, MADCAM1, MAG, MPZ, MPZL1, NCAM1, NCAM2, NEGR1, NEO1, NFASC, NLGN1, NLGN2, NLGN3, NRCAM, NRXN1, NRXN2, NRXN3, OCLN, PDCD1, PDCD1LG2, PECAM1, PTPRC, PTPRF, PTPRM, PVR, PVRL1, PVRL2, PVRL3, SDC1, SDC2, SDC3, SDC4, SELE, SELL, SELP, SELPLG, SIGLEC1, SPN, VCAM1, VCAN 123 ALCAM(2), CADM1(8), CADM3(8), CD2(3), CD22(11), CD226(4), CD274(4), CD28(2), CD34(1), CD4(2), CD40(1), CD40LG(6), CD58(2), CD6(3), CD80(1), CD8B(2), CDH1(5), CDH15(1), CDH3(4), CDH4(11), CDH5(2), CLDN10(4), CLDN11(1), CLDN15(1), CLDN16(5), CLDN17(5), CLDN18(1), CLDN19(1), CLDN2(1), CLDN6(2), CLDN7(2), CLDN8(5), CLDN9(1), CNTN2(7), CNTNAP1(7), CNTNAP2(12), CTLA4(2), ESAM(3), F11R(2), GLG1(4), HLA-A(3), HLA-B(3), HLA-C(2), HLA-DMA(2), HLA-DMB(2), HLA-DOA(1), HLA-DOB(1), HLA-DPA1(1), HLA-DPB1(2), HLA-DQA1(1), HLA-DQA2(3), HLA-DQB1(1), HLA-DRA(5), HLA-DRB1(3), HLA-DRB5(1), HLA-E(1), HLA-F(2), HLA-G(2), ICAM1(2), ICAM2(1), ICOS(1), ITGA4(8), ITGA6(4), ITGA8(8), ITGA9(6), ITGAL(8), ITGAM(8), ITGAV(5), ITGB1(6), ITGB2(5), ITGB7(4), ITGB8(5), JAM3(3), L1CAM(4), MAG(7), MPZL1(1), NCAM1(6), NEGR1(4), NEO1(6), NFASC(17), NLGN1(7), NLGN2(2), NLGN3(4), NRCAM(7), NRXN2(6), OCLN(1), PDCD1LG2(1), PECAM1(2), PTPRC(17), PTPRF(9), PVR(1), PVRL1(6), PVRL2(4), PVRL3(2), SDC1(1), SDC2(3), SDC3(3), SDC4(1), SELE(4), SELL(3), SELP(6), SELPLG(2), SIGLEC1(4), SPN(2), VCAM1(9), VCAN(37) 44797856 448 107 438 174 155 151 79 3 56 4 6.2e-09 3.9e-06
2 HSA04060_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION Genes involved in cytokine-cytokine receptor interaction ACVR1, ACVR1B, ACVR2A, ACVR2B, AMH, AMHR2, BMP2, BMP7, BMPR1A, BMPR1B, BMPR2, CCL1, CCL11, CCL13, CCL14, CCL15, CCL16, CCL17, CCL18, CCL19, CCL2, CCL20, CCL21, CCL22, CCL23, CCL24, CCL25, CCL26, CCL27, CCL28, CCL3, CCL4, CCL5, CCL7, CCL8, CCR1, CCR2, CCR3, CCR4, CCR5, CCR6, CCR7, CCR8, CCR9, CD27, CD40, CD40LG, CD70, CLCF1, CNTF, CNTFR, CRLF2, CSF1, CSF1R, CSF2, CSF2RA, CSF2RB, CSF3, CSF3R, CTF1, CX3CL1, CX3CR1, CXCL1, CXCL10, CXCL11, CXCL12, CXCL13, CXCL14, CXCL16, CXCL2, CXCL3, CXCL5, CXCL6, CXCL9, CXCR3, CXCR4, CXCR6, EDA, EDA2R, EDAR, EGF, EGFR, EPO, EPOR, FAS, FASLG, FLJ78302, FLT1, FLT3, FLT3LG, FLT4, GDF5, GH1, GH2, GHR, HGF, IFNA1, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA2, IFNA21, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNAR1, IFNAR2, IFNB1, IFNE1, IFNG, IFNGR1, IFNGR2, IFNK, IFNW1, IL10, IL10RA, IL10RB, IL11, IL11RA, IL12A, IL12B, IL12RB1, IL12RB2, IL13, IL13RA1, IL15, IL15RA, IL17A, IL17B, IL17RA, IL17RB, IL18, IL18R1, IL18RAP, IL19, IL1A, IL1B, IL1R1, IL1R2, IL1RAP, IL2, IL20, IL20RA, IL21, IL21R, IL22, IL22RA1, IL22RA2, IL23A, IL23R, IL24, IL25, IL26, IL28A, IL28B, IL28RA, IL29, IL2RA, IL2RB, IL2RG, IL3, IL3RA, IL4, IL4R, IL5, IL5RA, IL6, IL6R, IL6ST, IL7, IL7R, IL8, IL8RA, IL8RB, IL9, IL9R, INHBA, INHBB, INHBC, INHBE, KDR, KIT, KITLG, LEP, LEPR, LIF, LIFR, LOC728045, LTA, LTB, LTBR, MET, MPL, NGFR, OSM, OSMR, PDGFB, PDGFC, PDGFRA, PDGFRB, PF4, PF4V1, PLEKHO2, PPBP, PRL, PRLR, RELT, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNF, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11A, TNFRSF11B, TNFRSF12A, TNFRSF13B, TNFRSF13C, TNFRSF14, TNFRSF17, TNFRSF18, TNFRSF19, TNFRSF1A, TNFRSF1B, TNFRSF21, TNFRSF25, TNFRSF4, TNFRSF6B, TNFRSF8, TNFRSF9, TNFSF10, TNFSF11, TNFSF12, TNFSF13, TNFSF13B, TNFSF14, TNFSF15, TNFSF18, TNFSF4, TNFSF8, TNFSF9, TPO, TSLP, VEGFA, VEGFB, VEGFC, XCL1, XCL2, XCR1 240 ACVR1(4), ACVR2B(5), AMHR2(2), BMP2(1), BMP7(6), BMPR1A(4), BMPR1B(10), BMPR2(11), CCL13(1), CCL15(1), CCL18(2), CCL22(1), CCL23(2), CCL27(3), CCL7(1), CCL8(1), CCR1(5), CCR3(4), CCR4(1), CCR5(1), CCR6(2), CCR7(3), CCR8(4), CCR9(6), CD27(3), CD40(1), CD40LG(6), CD70(5), CNTF(2), CNTFR(2), CSF1(2), CSF1R(3), CSF2RB(7), CSF3R(10), CX3CL1(1), CX3CR1(3), CXCL10(1), CXCL11(3), CXCL12(1), CXCL14(2), CXCL16(1), CXCL5(2), CXCL6(1), CXCL9(3), CXCR4(4), EDA(2), EDA2R(2), EDAR(3), EGF(3), EGFR(12), FAS(2), FASLG(1), FLT1(13), FLT3(5), FLT3LG(1), FLT4(5), GDF5(2), GH1(2), GH2(3), GHR(6), HGF(8), IFNA1(1), IFNA10(3), IFNA13(2), IFNA16(4), IFNA2(4), IFNA21(1), IFNA4(2), IFNA5(1), IFNA6(3), IFNA7(1), IFNA8(1), IFNAR1(3), IFNAR2(2), IFNB1(1), IFNG(1), IFNGR1(3), IFNGR2(2), IFNK(1), IL10(2), IL10RA(2), IL10RB(5), IL11(1), IL11RA(1), IL12A(1), IL12B(2), IL12RB1(2), IL12RB2(6), IL13(1), IL13RA1(2), IL15(2), IL15RA(1), IL17A(2), IL17RA(7), IL17RB(1), IL18RAP(4), IL19(1), IL1A(1), IL1B(1), IL1R1(4), IL1R2(7), IL1RAP(1), IL2(4), IL20(3), IL20RA(5), IL21(2), IL21R(5), IL22(2), IL22RA1(1), IL23R(3), IL24(2), IL25(1), IL26(3), IL28RA(3), IL2RA(2), IL2RB(2), IL3(3), IL4(3), IL4R(1), IL5RA(6), IL6(2), IL6R(3), IL6ST(3), IL7(2), IL7R(3), IL8(1), IL9(2), INHBB(1), INHBC(3), INHBE(1), KDR(10), KIT(8), KITLG(2), LEP(1), LEPR(9), LTB(1), LTBR(3), MET(5), MPL(2), NGFR(3), OSM(1), OSMR(6), PDGFC(3), PDGFRA(17), PDGFRB(6), PLEKHO2(5), PRL(3), PRLR(4), RELT(2), TGFB1(1), TGFB2(9), TGFBR1(9), TNFRSF10A(3), TNFRSF10B(6), TNFRSF10D(1), TNFRSF11A(3), TNFRSF11B(4), TNFRSF13B(4), TNFRSF17(2), TNFRSF19(3), TNFRSF1A(1), TNFRSF21(5), TNFRSF4(1), TNFRSF8(2), TNFRSF9(3), TNFSF10(1), TNFSF11(1), TNFSF12(2), TNFSF13(2), TNFSF13B(1), TNFSF14(3), TNFSF15(3), TNFSF18(1), TNFSF4(1), TNFSF8(1), TPO(11), TSLP(3), VEGFA(2), VEGFB(2), VEGFC(6), XCL2(1), XCR1(1) 55901212 569 118 556 195 182 208 104 0 74 1 1.5e-08 4.5e-06
3 HSA04630_JAK_STAT_SIGNALING_PATHWAY Genes involved in Jak-STAT signaling pathway AKT1, AKT2, AKT3, BCL2L1, CBL, CBLB, CBLC, CCND1, CCND2, CCND3, CISH, CLCF1, CNTF, CNTFR, CREBBP, CRLF2, CSF2, CSF2RA, CSF2RB, CSF3, CSF3R, CTF1, EP300, EPO, EPOR, GH1, GH2, GHR, GRB2, IFNA1, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA2, IFNA21, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNAR1, IFNAR2, IFNB1, IFNE1, IFNG, IFNGR1, IFNGR2, IFNK, IFNW1, IL10, IL10RA, IL10RB, IL11, IL11RA, IL12A, IL12B, IL12RB1, IL12RB2, IL13, IL13RA1, IL13RA2, IL15, IL15RA, IL19, IL2, IL20, IL20RA, IL21, IL21R, IL22, IL22RA1, IL22RA2, IL23A, IL23R, IL24, IL26, IL28A, IL28B, IL28RA, IL29, IL2RA, IL2RB, IL2RG, IL3, IL3RA, IL4, IL4R, IL5, IL5RA, IL6, IL6R, IL6ST, IL7, IL7R, IL9, IL9R, IRF9, JAK1, JAK2, JAK3, LEP, LEPR, LIF, LIFR, MPL, MYC, OSM, OSMR, PIAS1, PIAS2, PIAS3, PIAS4, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PIM1, PRL, PRLR, PTPN11, PTPN6, SOCS1, SOCS2, SOCS3, SOCS4, SOCS5, SOCS7, SOS1, SOS2, SPRED1, SPRED2, SPRY1, SPRY2, SPRY3, SPRY4, STAM, STAM2, STAT1, STAT2, STAT3, STAT4, STAT5A, STAT5B, STAT6, TPO, TSLP, TYK2 143 AKT1(2), AKT2(6), AKT3(1), BCL2L1(1), CBL(5), CBLB(8), CCND2(1), CCND3(1), CNTF(2), CNTFR(2), CREBBP(25), CSF2RB(7), CSF3R(10), EP300(15), GH1(2), GH2(3), GHR(6), GRB2(3), IFNA1(1), IFNA10(3), IFNA13(2), IFNA16(4), IFNA2(4), IFNA21(1), IFNA4(2), IFNA5(1), IFNA6(3), IFNA7(1), IFNA8(1), IFNAR1(3), IFNAR2(2), IFNB1(1), IFNG(1), IFNGR1(3), IFNGR2(2), IFNK(1), IL10(2), IL10RA(2), IL10RB(5), IL11(1), IL11RA(1), IL12A(1), IL12B(2), IL12RB1(2), IL12RB2(6), IL13(1), IL13RA1(2), IL13RA2(3), IL15(2), IL15RA(1), IL19(1), IL2(4), IL20(3), IL20RA(5), IL21(2), IL21R(5), IL22(2), IL22RA1(1), IL23R(3), IL24(2), IL26(3), IL28RA(3), IL2RA(2), IL2RB(2), IL3(3), IL4(3), IL4R(1), IL5RA(6), IL6(2), IL6R(3), IL6ST(3), IL7(2), IL7R(3), IL9(2), IRF9(3), JAK1(4), JAK2(9), JAK3(9), LEP(1), LEPR(9), MPL(2), OSM(1), OSMR(6), PIAS1(4), PIAS2(3), PIAS3(4), PIAS4(1), PIK3CB(2), PIK3CD(3), PIK3CG(14), PIK3R2(1), PIK3R3(4), PIK3R5(1), PIM1(1), PRL(3), PRLR(4), PTPN11(5), PTPN6(4), SOCS2(3), SOCS4(1), SOCS5(5), SOS1(7), SOS2(11), SPRED1(7), SPRED2(6), SPRY1(3), SPRY4(2), STAM(2), STAM2(2), STAT1(6), STAT2(7), STAT3(2), STAT4(3), STAT5B(3), STAT6(2), TPO(11), TSLP(3), TYK2(1) 45825148 418 100 410 130 143 150 76 1 46 2 2.1e-07 0.000042
4 HSA04350_TGF_BETA_SIGNALING_PATHWAY Genes involved in TGF-beta signaling pathway ACVR1, ACVR1B, ACVR1C, ACVR2A, ACVR2B, ACVRL1, AMH, AMHR2, BMP2, BMP4, BMP5, BMP6, BMP7, BMP8A, BMP8B, BMPR1A, BMPR1B, BMPR2, CDKN2B, CHRD, COMP, CREBBP, CUL1, DCN, E2F4, E2F5, EP300, FST, GDF5, GDF6, GDF7, hCG_1982709, ID1, ID2, ID3, ID4, IFNG, INHBA, INHBB, INHBC, INHBE, LEFTY1, LEFTY2, LTBP1, MAPK1, MAPK3, MYC, NODAL, NOG, PITX2, PPP2CA, PPP2CB, PPP2R1A, PPP2R1B, PPP2R2A, PPP2R2B, PPP2R2C, RBL1, RBL2, RBX1, RHOA, ROCK1, ROCK2, RPS6KB1, RPS6KB2, SKP1, SMAD1, SMAD2, SMAD3, SMAD4, SMAD5, SMAD6, SMAD7, SMAD9, SMURF1, SMURF2, SP1, TFDP1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THBS1, THBS2, THBS3, THBS4, TNF, ZFYVE16, ZFYVE9 82 ACVR1(4), ACVR1C(3), ACVR2B(5), ACVRL1(4), AMHR2(2), BMP2(1), BMP4(2), BMP5(5), BMP6(3), BMP7(6), BMP8A(1), BMPR1A(4), BMPR1B(10), BMPR2(11), CHRD(5), COMP(2), CREBBP(25), CUL1(9), DCN(4), E2F4(1), E2F5(2), EP300(15), FST(3), GDF5(2), GDF6(3), IFNG(1), INHBB(1), INHBC(3), INHBE(1), LTBP1(9), MAPK1(2), MAPK3(3), NODAL(1), PITX2(2), PPP2CA(1), PPP2CB(2), PPP2R1A(5), PPP2R1B(2), PPP2R2A(1), PPP2R2C(4), RBL1(5), RBL2(8), RBX1(1), RHOA(5), ROCK1(15), ROCK2(6), RPS6KB1(3), RPS6KB2(2), SKP1(1), SMAD1(2), SMAD3(9), SMAD5(1), SMAD9(3), SMURF1(3), SMURF2(2), SP1(2), TFDP1(4), TGFB1(1), TGFB2(9), TGFBR1(9), THBS1(10), THBS2(15), THBS3(3), THBS4(2), ZFYVE16(12), ZFYVE9(10) 31056032 313 89 308 105 108 100 59 1 45 0 3e-07 0.000047
5 HSA01030_GLYCAN_STRUCTURES_BIOSYNTHESIS_1 Genes involved in glycan structures - biosynthesis 1 A4GNT, ALG1, ALG10, ALG10B, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, B3GALT6, B3GNT1, B3GNT2, B3GNT6, B3GNT7, B4GALT1, B4GALT2, B4GALT3, B4GALT4, B4GALT5, B4GALT7, C1GALT1, C1GALT1C1, ChGn, CHPF, CHST1, CHST11, CHST12, CHST13, CHST14, CHST2, CHST3, CHST4, CHST6, CHST7, CHSY-2, CHSY1, CSGlcA-T, DAD1, DDOST, DPAGT1, EXT1, EXT2, EXTL1, EXTL2, EXTL3, FUT11, FUT8, GALNAC4S-6ST, GALNACT-2, GALNT1, GALNT10, GALNT11, GALNT12, GALNT13, GALNT14, GALNT17, GALNT2, GALNT3, GALNT4, GALNT5, GALNT6, GALNT7, GALNT8, GALNT9, GALNTL1, GALNTL2, GALNTL4, GALNTL5, GANAB, GCNT1, GCNT3, GCNT4, GCS1, HS2ST1, HS3ST1, HS3ST2, HS3ST3A1, HS3ST3B1, HS3ST5, HS6ST1, HS6ST2, HS6ST3, LOC728969, MAN1A1, MAN1A2, MAN1B1, MAN1C1, MAN2A1, MGAT1, MGAT2, MGAT3, MGAT4A, MGAT4B, MGAT5, MGAT5B, NDST1, NDST2, NDST3, NDST4, OGT, RPN1, RPN2, ST3GAL1, ST3GAL2, ST3GAL3, ST3GAL4, ST6GAL1, ST6GALNAC1, STT3B, UST, WBSCR17, XYLT1, XYLT2 108 A4GNT(4), ALG1(1), ALG10(3), ALG10B(8), ALG11(1), ALG12(2), ALG13(1), ALG14(1), ALG2(3), ALG3(1), ALG6(3), ALG8(6), ALG9(2), B3GNT1(2), B3GNT2(2), B3GNT7(6), B4GALT1(6), B4GALT2(3), B4GALT3(7), B4GALT5(2), C1GALT1C1(2), CHPF(3), CHST1(7), CHST11(3), CHST12(3), CHST13(2), CHST14(1), CHST2(1), CHST4(7), CHSY1(5), DAD1(2), DDOST(2), DPAGT1(2), EXT1(11), EXTL1(3), EXTL2(6), EXTL3(9), FUT11(1), FUT8(2), GALNT1(3), GALNT10(5), GALNT11(5), GALNT12(2), GALNT13(5), GALNT14(10), GALNT2(4), GALNT3(4), GALNT5(10), GALNT6(3), GALNT7(3), GALNT8(2), GALNT9(2), GALNTL1(5), GALNTL2(8), GALNTL4(2), GALNTL5(8), GANAB(4), GCNT1(5), GCNT3(4), GCNT4(7), HS2ST1(4), HS3ST1(2), HS3ST2(3), HS3ST3B1(2), HS3ST5(4), HS6ST2(2), HS6ST3(2), MAN1A1(5), MAN1A2(2), MAN1B1(2), MAN1C1(7), MAN2A1(12), MGAT1(2), MGAT3(2), MGAT4A(2), MGAT4B(1), MGAT5(3), MGAT5B(2), NDST1(4), NDST2(5), NDST3(10), NDST4(4), OGT(5), RPN2(1), ST3GAL1(1), ST3GAL2(1), ST3GAL3(4), ST3GAL4(2), ST6GAL1(1), ST6GALNAC1(3), STT3B(6), UST(1), XYLT1(7), XYLT2(2) 36725808 353 97 349 109 130 108 77 3 35 0 7.9e-07 9e-05
6 GPCRDB_CLASS_A_RHODOPSIN_LIKE ADORA1, ADORA2A, ADORA2B, ADORA3, ADRA1A, ADRA1B, ADRA1D, ADRA2A, ADRA2C, ADRB1, ADRB2, ADRB3, AGTR1, AGTR2, AGTRL1, AVPR1A, AVPR1B, AVPR2, BDKRB1, BDKRB2, BLR1, BRS3, C3AR1, C5R1, CCBP2, CCKAR, CCKBR, CCR1, CCR10, CCR2, CCR3, CCR4, CCR5, CCR6, CCR7, CCR8, CCR9, CCRL1, CCRL2, CHML, CHRM1, CHRM2, CHRM3, CHRM4, CHRM5, CMKLR1, CMKOR1, CNR1, CNR2, CX3CR1, CXCR3, CXCR4, DRD1, DRD2, DRD3, DRD4, DRD5, EDNRA, EDNRB, ELA3A, F2R, F2RL1, F2RL2, F2RL3, FPR1, FPRL1, FPRL2, FSHR, GALR1, GALR2, GALR3, GALT, GHSR, GNB2L1, GPR10, GPR147, GPR17, GPR173, GPR174, GPR23, GPR24, GPR27, GPR3, GPR30, GPR35, GPR37, GPR37L1, GPR4, GPR44, GPR50, GPR6, GPR63, GPR74, GPR77, GPR83, GPR85, GPR87, GPR92, GRPR, HCRTR1, HCRTR2, HRH1, HRH2, HRH3, HTR1A, HTR1B, HTR1D, HTR1E, HTR1F, HTR2A, HTR2B, HTR2C, HTR4, HTR5A, HTR6, HTR7, HTR7, LOC93164, IL8RA, IL8RB, LHCGR, LTB4R, MAS1, MC1R, MC3R, MC4R, MC5R, MLNR, MTNR1A, MTNR1B, NMBR, NMUR1, NMUR2, NPY1R, NPY2R, NPY5R, NPY6R, NTSR1, NTSR2, OPN1SW, OPN3, OPRD1, OPRK1, OPRL1, OPRM1, OR10A5, OR11A1, OR12D3, OR1C1, OR1F1, OR1Q1, OR2H1, OR5V1, OR5V1, OR12D3, OR7A5, OR7C1, OR8B8, OXTR, P2RY1, P2RY10, P2RY11, P2RY12, P2RY13, P2RY14, P2RY2, P2RY5, P2RY6, PPYR1, PTAFR, PTGDR, PTGER1, PTGER2, PTGER4, PTGFR, PTGIR, Rgr, RGR, RHO, RRH, SSTR1, SSTR2, SSTR3, SSTR4, SUCNR1, TBXA2R, TRHR 157 ADORA1(8), ADORA2A(5), ADORA2B(1), ADORA3(3), ADRA1A(5), ADRA1B(5), ADRA1D(2), ADRA2A(3), ADRB1(3), ADRB3(1), AGTR1(6), AGTR2(5), AVPR1A(4), AVPR1B(3), AVPR2(6), BDKRB2(3), BRS3(3), C3AR1(4), CCKAR(3), CCKBR(5), CCR1(5), CCR3(4), CCR4(1), CCR5(1), CCR6(2), CCR7(3), CCR8(4), CCR9(6), CCRL1(5), CHML(5), CHRM1(3), CHRM3(4), CHRM4(1), CHRM5(2), CMKLR1(3), CNR1(5), CX3CR1(3), CXCR4(4), DRD1(1), DRD2(5), DRD3(3), DRD5(6), EDNRA(4), F2R(1), F2RL1(1), F2RL2(3), FPR1(2), FSHR(7), GALR1(2), GALT(2), GHSR(5), GPR17(1), GPR173(2), GPR174(3), GPR37(7), GPR37L1(3), GPR4(1), GPR50(5), GPR6(6), GPR63(4), GPR77(2), GPR83(1), GPR85(1), GPR87(5), GRPR(3), HCRTR1(1), HCRTR2(1), HRH1(1), HRH2(4), HTR1A(5), HTR1B(6), HTR1D(2), HTR1F(2), HTR2A(3), HTR2B(1), HTR2C(8), HTR4(3), HTR5A(5), HTR7(7), LHCGR(4), LTB4R(1), MAS1(2), MC3R(1), MC4R(4), MC5R(7), MLNR(3), MTNR1B(3), NMUR1(4), NMUR2(9), NPY1R(4), NPY2R(5), NPY5R(2), NTSR1(1), NTSR2(5), OPN1SW(3), OPN3(1), OPRD1(1), OPRK1(5), OPRM1(3), OR12D3(4), OR1C1(3), OR1F1(2), OR2H1(4), OR5V1(3), OR7A5(3), OR8B8(3), OXTR(3), P2RY1(6), P2RY12(4), P2RY13(2), P2RY14(6), P2RY2(3), P2RY6(1), PPYR1(4), PTAFR(1), PTGDR(1), PTGER2(1), PTGFR(6), PTGIR(1), RGR(3), RHO(3), RRH(4), SSTR1(5), SSTR2(3), SSTR4(4), SUCNR1(2), TRHR(8) 38373828 435 116 433 151 172 151 78 3 31 0 8.8e-07 9e-05
7 HSA00240_PYRIMIDINE_METABOLISM Genes involved in pyrimidine metabolism AICDA, AK3, CAD, CANT1, CDA, CMPK, CTPS, CTPS2, DCK, DCTD, DHODH, DPYD, DPYS, DTYMK, DUT, ECGF1, ENTPD1, ENTPD3, ENTPD4, ENTPD5, ENTPD6, ENTPD8, ITPA, NME1, NME2, NME4, NME6, NME7, NP, NT5C, NT5C1A, NT5C1B, NT5C2, NT5C3, NT5E, NT5M, NUDT2, PNPT1, POLA1, POLA2, POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3, POLE4, POLR1A, POLR1B, POLR1C, POLR1D, POLR2A, POLR2B, POLR2C, POLR2D, POLR2E, POLR2F, POLR2G, POLR2H, POLR2I, POLR2J, POLR2K, POLR2L, POLR3A, POLR3B, POLR3G, POLR3GL, POLR3H, POLR3K, PRIM1, PRIM2, RFC5, RRM1, RRM2, RRM2B, TK1, TK2, TXNRD1, TXNRD2, TYMS, UCK1, UCK2, UMPS, UPB1, UPP1, UPP2, UPRT, ZNRD1 84 AICDA(4), AK3(1), CAD(12), CDA(1), CTPS(4), CTPS2(4), DCK(2), DCTD(3), DHODH(4), DPYS(7), DTYMK(1), ENTPD1(2), ENTPD3(5), ENTPD4(5), ENTPD5(2), ENTPD6(3), ITPA(2), NME6(4), NME7(5), NT5C1A(1), NT5C1B(10), NT5C2(4), NT5C3(2), NT5E(3), NT5M(1), PNPT1(10), POLA1(8), POLA2(2), POLD1(5), POLD2(1), POLD3(2), POLE(21), POLE2(1), POLE3(1), POLR1A(11), POLR1B(9), POLR1C(2), POLR1D(2), POLR2A(6), POLR2B(8), POLR2D(1), POLR2E(1), POLR2H(1), POLR2I(1), POLR2K(1), POLR3A(11), POLR3B(11), POLR3GL(1), POLR3H(1), POLR3K(1), RFC5(3), RRM1(2), RRM2(3), TK1(1), TK2(1), TXNRD1(3), TXNRD2(3), TYMS(3), UCK2(1), UMPS(1), UPB1(5), UPP2(2), UPRT(4) 26661776 243 78 239 58 71 91 51 1 29 0 1.4e-06 0.00012
8 HSA04012_ERBB_SIGNALING_PATHWAY Genes involved in ErbB signaling pathway ABL1, ABL2, AKT1, AKT2, AKT3, ARAF, AREG, BAD, BRAF, BTC, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CBL, CBLB, CBLC, CDKN1A, CDKN1B, CRK, CRKL, EGF, EGFR, EIF4EBP1, ELK1, ERBB2, ERBB3, ERBB4, EREG, FRAP1, GAB1, GRB2, GSK3B, HBEGF, HRAS, JUN, KRAS, MAP2K1, MAP2K2, MAP2K4, MAP2K7, MAPK1, MAPK10, MAPK3, MAPK8, MAPK9, MYC, NCK1, NCK2, NRAS, NRG1, NRG2, NRG3, NRG4, PAK1, PAK2, PAK3, PAK4, PAK6, PAK7, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PLCG1, PLCG2, PRKCA, PRKCB1, PRKCG, PTK2, RAF1, RPS6KB1, RPS6KB2, SHC1, SHC2, SHC3, SHC4, SOS1, SOS2, SRC, STAT5A, STAT5B, TGFA 75 ABL1(4), ABL2(7), AKT1(2), AKT2(6), AKT3(1), ARAF(3), BAD(1), BTC(2), CAMK2A(1), CAMK2B(2), CAMK2D(3), CAMK2G(2), CBL(5), CBLB(8), CDKN1A(1), CDKN1B(3), CRKL(2), EGF(3), EGFR(12), ERBB2(10), ERBB3(14), EREG(1), GAB1(6), GRB2(3), HBEGF(1), MAP2K1(4), MAP2K2(1), MAPK1(2), MAPK3(3), MAPK8(7), MAPK9(5), NCK1(1), NRG2(6), NRG3(7), NRG4(1), PAK1(5), PAK2(3), PAK3(5), PAK6(1), PAK7(7), PIK3CB(2), PIK3CD(3), PIK3CG(14), PIK3R2(1), PIK3R3(4), PIK3R5(1), PLCG1(4), PLCG2(13), PRKCA(4), PRKCG(10), PTK2(6), RAF1(6), RPS6KB1(3), RPS6KB2(2), SHC1(3), SHC2(1), SHC3(1), SHC4(5), SOS1(7), SOS2(11), SRC(3), STAT5B(3) 30323256 268 93 256 86 98 84 49 4 33 0 2.9e-06 0.00022
9 HSA00230_PURINE_METABOLISM Genes involved in purine metabolism ADA, ADCY1, ADCY2, ADCY3, ADCY4, ADCY5, ADCY6, ADCY7, ADCY8, ADCY9, ADK, ADSL, ADSS, ADSSL1, AK1, AK2, AK3L1, AK5, AK7, ALLC, AMPD1, AMPD2, AMPD3, APRT, ATIC, CANT1, DCK, DGUOK, ECGF1, ENPP1, ENPP3, ENTPD1, ENTPD2, ENTPD3, ENTPD4, ENTPD5, ENTPD6, ENTPD8, FHIT, GART, GDA, GMPR, GMPR2, GMPS, GUCY1A2, GUCY1A3, GUCY1B3, GUCY2C, GUCY2D, GUCY2F, GUK1, HPRT1, IMPDH1, IMPDH2, ITPA, NME1, NME2, NME4, NME6, NME7, NP, NPR1, NPR2, NT5C, NT5C1A, NT5C1B, NT5C2, NT5C3, NT5E, NT5M, NUDT2, NUDT5, NUDT9, PAICS, PAPSS1, PAPSS2, PDE10A, PDE11A, PDE1A, PDE1C, PDE2A, PDE3B, PDE4A, PDE4B, PDE4C, PDE4D, PDE5A, PDE6D, PDE6G, PDE6H, PDE7A, PDE7B, PDE8A, PDE8B, PDE9A, PFAS, PKLR, PKM2, PNPT1, POLA1, POLA2, POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3, POLE4, POLR1A, POLR1B, POLR1C, POLR1D, POLR2A, POLR2B, POLR2C, POLR2D, POLR2E, POLR2F, POLR2G, POLR2H, POLR2I, POLR2J, POLR2K, POLR2L, POLR3A, POLR3B, POLR3G, POLR3GL, POLR3H, POLR3K, PPAT, PRIM1, PRIM2, PRPS1, PRPS1L1, PRPS2, PRUNE, RFC5, RRM1, RRM2, RRM2B, SAC, XDH, ZNRD1 140 ADA(3), ADCY1(8), ADCY2(15), ADCY3(2), ADCY4(9), ADCY5(11), ADCY6(1), ADCY7(4), ADCY8(12), ADCY9(6), ADK(1), ADSL(7), ADSS(2), AK2(1), AK5(5), AK7(6), ALLC(5), AMPD1(9), AMPD2(5), AMPD3(3), ATIC(4), DCK(2), ENPP1(4), ENPP3(4), ENTPD1(2), ENTPD3(5), ENTPD4(5), ENTPD5(2), ENTPD6(3), FHIT(1), GART(3), GMPR(2), GMPR2(2), GMPS(5), GUCY1A2(12), GUCY1B3(9), GUCY2C(8), GUCY2D(8), GUCY2F(12), HPRT1(2), IMPDH1(2), IMPDH2(4), ITPA(2), NME6(4), NME7(5), NPR1(6), NPR2(10), NT5C1A(1), NT5C1B(10), NT5C2(4), NT5C3(2), NT5E(3), NT5M(1), NUDT9(2), PAICS(1), PAPSS1(2), PAPSS2(4), PDE10A(11), PDE11A(8), PDE1A(4), PDE1C(9), PDE3B(3), PDE4A(4), PDE4B(5), PDE4C(2), PDE4D(5), PDE5A(6), PDE6D(1), PDE7A(3), PDE7B(4), PDE8A(1), PDE8B(7), PDE9A(6), PFAS(1), PKM2(2), PNPT1(10), POLA1(8), POLA2(2), POLD1(5), POLD2(1), POLD3(2), POLE(21), POLE2(1), POLE3(1), POLR1A(11), POLR1B(9), POLR1C(2), POLR1D(2), POLR2A(6), POLR2B(8), POLR2D(1), POLR2E(1), POLR2H(1), POLR2I(1), POLR2K(1), POLR3A(11), POLR3B(11), POLR3GL(1), POLR3H(1), POLR3K(1), PPAT(6), PRPS1(1), PRPS1L1(1), PRPS2(2), PRUNE(1), RFC5(3), RRM1(2), RRM2(3), XDH(7) 54995680 500 113 493 162 166 172 91 3 68 0 4.1e-06 0.00028
10 HSA04360_AXON_GUIDANCE Genes involved in axon guidance ABL1, ABLIM1, ABLIM2, ABLIM3, ARHGEF12, CDC42, CDK5, CFL1, CFL2, CHP, CXCL12, CXCR4, DCC, DPYSL2, DPYSL5, EFNA1, EFNA2, EFNA3, EFNA4, EFNA5, EFNB1, EFNB2, EFNB3, EPHA1, EPHA2, EPHA3, EPHA4, EPHA5, EPHA6, EPHA7, EPHA8, EPHB1, EPHB2, EPHB3, EPHB4, EPHB6, FES, FYN, GNAI1, GNAI2, GNAI3, GSK3B, HRAS, ITGB1, KRAS, L1CAM, LIMK1, LIMK2, LRRC4C, MAPK1, MAPK3, MET, NCK1, NCK2, NFAT5, NFATC1, NFATC2, NFATC3, NFATC4, NGEF, NRAS, NRP1, NTN1, NTN2L, NTN4, NTNG1, PAK1, PAK2, PAK3, PAK4, PAK6, PAK7, PLXNA1, PLXNA2, PLXNA3, PLXNB1, PLXNB2, PLXNB3, PLXNC1, PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2, PTK2, RAC1, RAC2, RAC3, RASA1, RGS3, RHOA, RHOD, RND1, ROBO1, ROBO2, ROBO3, ROCK1, ROCK2, SEMA3A, SEMA3B, SEMA3C, SEMA3D, SEMA3E, SEMA3F, SEMA3G, SEMA4A, SEMA4B, SEMA4C, SEMA4D, SEMA4F, SEMA4G, SEMA5A, SEMA5B, SEMA6A, SEMA6B, SEMA6C, SEMA6D, SEMA7A, SLIT1, SLIT2, SLIT3, SRGAP1, SRGAP2, SRGAP3, UNC5A, UNC5B, UNC5C, UNC5D 121 ABL1(4), ABLIM1(6), ABLIM2(4), ABLIM3(5), ARHGEF12(9), CDC42(1), CFL1(1), CXCL12(1), CXCR4(4), DCC(16), DPYSL2(5), DPYSL5(1), EFNA3(1), EFNA4(1), EFNA5(5), EFNB1(3), EFNB2(1), EFNB3(3), EPHA1(6), EPHA2(5), EPHA4(6), EPHA6(5), EPHA7(10), EPHA8(6), EPHB1(9), EPHB2(8), EPHB3(2), EPHB4(5), EPHB6(4), FYN(5), GNAI1(4), ITGB1(6), L1CAM(4), LIMK1(5), LIMK2(5), LRRC4C(8), MAPK1(2), MAPK3(3), MET(5), NCK1(1), NFAT5(5), NFATC1(2), NFATC2(6), NFATC3(5), NFATC4(5), NGEF(1), NRP1(1), NTN1(5), NTN4(6), NTNG1(4), PAK1(5), PAK2(3), PAK3(5), PAK6(1), PAK7(7), PLXNA1(2), PLXNA2(8), PLXNA3(4), PLXNB1(5), PLXNB2(2), PLXNB3(3), PLXNC1(9), PPP3CA(3), PPP3CB(5), PPP3CC(4), PPP3R1(1), PPP3R2(1), PTK2(6), RASA1(9), RGS3(10), RHOA(5), RND1(1), ROBO2(18), ROBO3(5), ROCK1(15), ROCK2(6), SEMA3A(9), SEMA3B(1), SEMA3C(3), SEMA3D(13), SEMA3E(9), SEMA3F(1), SEMA3G(4), SEMA4A(3), SEMA4B(2), SEMA4D(13), SEMA4F(9), SEMA4G(6), SEMA5A(8), SEMA5B(11), SEMA6A(2), SEMA6B(2), SEMA6C(4), SEMA6D(9), SEMA7A(2), SLIT1(11), SLIT2(15), SLIT3(9), SRGAP1(9), SRGAP2(3), SRGAP3(4), UNC5A(2), UNC5B(6), UNC5C(12), UNC5D(9) 63260236 559 125 548 177 229 158 90 6 76 0 9.4e-06 0.00058
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