Acute Myeloid Leukemia: 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: LAML-TP

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: 25. 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
NPM1 21733 0 0 47 47 0 0
FLT3 79543 0 0 51 35 0 0
DNMT3A 58018 0 0 51 14 0 0
RUNX1 21118 0 0 18 11 0 0
WT1 25212 0 0 13 12 0 0
IDH1 32800 0 0 19 0 0 0
NRAS 14968 0 0 13 0 0 0
TET2 84665 0 1 21 19 0 0
CEBPA 5125 0 0 6 5 0 0
U2AF1 18242 0 0 10 0 0 0
TP53 25830 0 1 14 5 0 0
KRAS 21118 0 0 6 0 1.5e-312 2.3e-309
PHF6 31983 0 0 6 4 1.3e-99 1.9e-96
PTPN11 45510 0 0 6 0 3.1e-70 4.2e-67
ASXL1 93480 0 0 5 5 5.4e-69 6.8e-66
KIT 77285 0 0 7 2 1.1e-62 1.3e-59
PRUNE2 208853 0 0 7 5 2.8e-31 3.1e-28
OR5H6 27678 0 2 4 4 1.7e-30 1.7e-27
FAM5C 58223 0 0 5 0 1.1e-28 1.1e-25
CYP21A2 40537 0 0 4 0 4.2e-24 4e-21
EPPK1 110657 0 0 5 0 1.9e-15 1.7e-12
ZAN 155631 0 0 5 4 3.4e-11 2.9e-08
STAG2 101885 0 0 4 4 7.8e-09 6.4e-06
IDH2 29523 0 0 4 0 7.5e-08 0.000059
ETV6 32803 0 0 4 3 3.8e-07 0.00029
SMC1A 89769 0 0 4 1 0.0045 1
QRICH2 96160 0 0 4 3 0.0064 1
MUC4 128173 0 4 8 3 0.0068 1
SMC3 98397 0 0 4 2 0.0072 1
MAP3K4 115198 0 0 4 3 0.015 1
SDK1 135532 0 0 4 1 0.028 1
CSMD1 201585 0 0 4 1 0.09 1
APC 202546 0 0 4 0 0.091 1
TTN 2613382 0 1 5 1 0.24 1
MUC16 946874 0 1 4 0 0.6 1
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)