Skin Cutaneous Melanoma: Mutation Analysis (MutSig vS2N)
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 vS2N was used to generate the results found in this report.

  • Working with individual set: SKCM

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
Results
Significantly Mutated Genes

Column Descriptions:

  • N = number of sequenced bases in this gene across the individual set

  • nnon = number of (nonsilent) mutations in this gene across the individual set

  • nnull = number of (nonsilent) null mutations in this gene across the individual set

  • nflank = number of noncoding mutations from this gene's flanking region, across the individual set

  • nsil = number of silent mutations in this gene across the individual set

  • p = p-value (overall)

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

Table 1.  Get Full Table A Ranked List of Significantly Mutated Genes. Number of significant genes found: 243. Number of genes displayed: 35. Click on a gene name to display its stick figure depicting the distribution of mutations and mutation types across the chosen gene (this feature may not be available for all significant genes).

gene N nflank nsil nnon nnull p q
NRAS 18615 0 1 70 0 0 0
BRAF 66555 0 2 138 0 3.5e-241 3.3e-237
CDKN2A 15300 0 1 32 21 7.9e-69 4.9e-65
RTL1 13515 0 3 13 0 1.1e-33 5.3e-30
DNAH6 41055 0 1 17 1 3.5e-31 1.3e-27
EYS 57375 0 1 10 0 9.6e-27 3e-23
CCNE2 45645 0 2 14 2 5.9e-22 1.6e-18
SPRR3 12750 0 3 12 1 8.6e-22 2e-18
INTS8 94095 0 1 24 2 1.8e-21 3.7e-18
SMR3A 7140 0 2 8 0 1.1e-20 2.2e-17
CDC123 34935 0 0 8 2 9.6e-20 1.6e-16
NAP1L4 36975 0 0 14 2 1.5e-19 2.4e-16
NOTCH2 197370 0 9 38 3 2.2e-19 3.3e-16
ADAM30 73950 0 11 38 3 7.8e-19 1.1e-15
PTEN 41055 0 0 23 14 1.1e-18 1.4e-15
PRC1 59415 0 2 17 1 7.9e-17 9.3e-14
TAF1A 46410 0 0 14 0 1e-16 1.2e-13
TP53 32130 0 1 40 16 6.7e-16 6.8e-13
PPT2 26775 0 2 8 0 6.9e-16 6.8e-13
DEFB115 8670 0 2 7 1 5.4e-15 5e-12
LIPF 40545 0 5 14 0 5.9e-15 5.3e-12
IDH1 40800 0 1 14 0 6.6e-14 5.7e-11
ARID2 154530 0 4 46 26 3.7e-13 3e-10
TBC1D3 10965 2 0 7 0 3.8e-13 3e-10
TAX1BP1 76755 0 2 14 2 1.6e-12 1.2e-09
CLCC1 56355 0 1 15 2 1.8e-12 1.3e-09
PPP6C 29325 0 2 21 5 3.8e-12 2.7e-09
DISP1 141270 0 9 41 5 5.1e-12 3.5e-09
IVL 22185 0 4 12 0 6.7e-12 4.3e-09
NBPF7 39780 0 1 16 1 6.8e-12 4.3e-09
STK31 103530 0 4 39 2 1.2e-11 7.5e-09
F2RL1 37230 0 5 15 1 2.6e-11 1.5e-08
COPG2 37230 0 1 12 6 2.8e-11 1.6e-08
DPY19L4 76245 0 2 20 6 8.9e-11 4.8e-08
PRB1 10200 0 4 30 1 9e-11 4.8e-08
NRAS

Figure S1.  This figure depicts the distribution of mutations and mutation types across the NRAS significant gene.

BRAF

Figure S2.  This figure depicts the distribution of mutations and mutation types across the BRAF significant gene.

CDKN2A

Figure S3.  This figure depicts the distribution of mutations and mutation types across the CDKN2A significant gene.

RTL1

Figure S4.  This figure depicts the distribution of mutations and mutation types across the RTL1 significant gene.

DNAH6

Figure S5.  This figure depicts the distribution of mutations and mutation types across the DNAH6 significant gene.

EYS

Figure S6.  This figure depicts the distribution of mutations and mutation types across the EYS significant gene.

CCNE2

Figure S7.  This figure depicts the distribution of mutations and mutation types across the CCNE2 significant gene.

SPRR3

Figure S8.  This figure depicts the distribution of mutations and mutation types across the SPRR3 significant gene.

INTS8

Figure S9.  This figure depicts the distribution of mutations and mutation types across the INTS8 significant gene.

SMR3A

Figure S10.  This figure depicts the distribution of mutations and mutation types across the SMR3A significant gene.

CDC123

Figure S11.  This figure depicts the distribution of mutations and mutation types across the CDC123 significant gene.

NAP1L4

Figure S12.  This figure depicts the distribution of mutations and mutation types across the NAP1L4 significant gene.

NOTCH2

Figure S13.  This figure depicts the distribution of mutations and mutation types across the NOTCH2 significant gene.

ADAM30

Figure S14.  This figure depicts the distribution of mutations and mutation types across the ADAM30 significant gene.

PTEN

Figure S15.  This figure depicts the distribution of mutations and mutation types across the PTEN significant gene.

PRC1

Figure S16.  This figure depicts the distribution of mutations and mutation types across the PRC1 significant gene.

TAF1A

Figure S17.  This figure depicts the distribution of mutations and mutation types across the TAF1A significant gene.

TP53

Figure S18.  This figure depicts the distribution of mutations and mutation types across the TP53 significant gene.

PPT2

Figure S19.  This figure depicts the distribution of mutations and mutation types across the PPT2 significant gene.

DEFB115

Figure S20.  This figure depicts the distribution of mutations and mutation types across the DEFB115 significant gene.

LIPF

Figure S21.  This figure depicts the distribution of mutations and mutation types across the LIPF significant gene.

IDH1

Figure S22.  This figure depicts the distribution of mutations and mutation types across the IDH1 significant gene.

ARID2

Figure S23.  This figure depicts the distribution of mutations and mutation types across the ARID2 significant gene.

TBC1D3

Figure S24.  This figure depicts the distribution of mutations and mutation types across the TBC1D3 significant gene.

TAX1BP1

Figure S25.  This figure depicts the distribution of mutations and mutation types across the TAX1BP1 significant gene.

CLCC1

Figure S26.  This figure depicts the distribution of mutations and mutation types across the CLCC1 significant gene.

PPP6C

Figure S27.  This figure depicts the distribution of mutations and mutation types across the PPP6C significant gene.

DISP1

Figure S28.  This figure depicts the distribution of mutations and mutation types across the DISP1 significant gene.

IVL

Figure S29.  This figure depicts the distribution of mutations and mutation types across the IVL significant gene.

NBPF7

Figure S30.  This figure depicts the distribution of mutations and mutation types across the NBPF7 significant gene.

STK31

Figure S31.  This figure depicts the distribution of mutations and mutation types across the STK31 significant gene.

F2RL1

Figure S32.  This figure depicts the distribution of mutations and mutation types across the F2RL1 significant gene.

COPG2

Figure S33.  This figure depicts the distribution of mutations and mutation types across the COPG2 significant gene.

DPY19L4

Figure S34.  This figure depicts the distribution of mutations and mutation types across the DPY19L4 significant gene.

Methods & Data
Methods

In brief, we tabulate the number of mutations and the number of covered bases for each gene. The counts are broken down by mutation context category: four context categories that are discovered by MutSig, and one for indel and 'null' mutations, which include indels, nonsense mutations, splice-site mutations, and non-stop (read-through) mutations. For each gene, we calculate the probability of seeing the observed constellation of mutations, i.e. the product P1 x P2 x ... x Pm, or a more extreme one, given the background mutation rates calculated across the dataset. [1]

Download Results

This is an experimental feature. The full results of the analysis summarized in this report can be downloaded from the TCGA Data Coordination Center.

References
[1] TCGA, Integrated genomic analyses of ovarian carcinoma, Nature 474:609 - 615 (2011)