Mutation Assessor
Overview
Introduction

This report serves to summarize the functional impact of missense mutations in each gene as determined by Mutation Assessor[1].

Summary

  • High Functional Impact Missense Mutations: 240

  • Medium Functional Impact Missense Mutations: 1580

  • Low Functional Impact Missense Mutations: 1694

  • Neutral Functional Impact Mutations: 1183

Results
Functional Impact by Gene

Table 1.  Get Full Table A gene-level breakdown of missense mutation functional impact, ordered by MutSig rank. Includes missense mutation counts broken down by level of functional impact (high, medium, low, neutral), median functional impact score and level, and most common level(s) of functional impact (mode) per gene.

Gene MutSig
Rank 		High
Functional Impact
Count 		Medium
Functional Impact
Count 		Low
Functional Impact
Count 		Neutral
Functional Impact
Count 		Median
Functional Impact
Score 		Median
Functional Impact
Level 		Mode
Functional Impact
Level
NFE2L2 1 0 5 0 0 2.8650 medium medium
PIK3CA 2 0 1 10 0 1.6200 low low
MAPK1 3 3 0 0 0 4.2200 high high
ARID1A 4 0 1 1 0 2.0575 medium medium/low
SGOL2 5 0 1 1 0 1.8025 low medium/low
HSD17B4 6 0 3 0 0 3.0800 medium medium
NCKAP1 7 0 0 1 1 0.5150 neutral low/neutral
PTH2 9 0 0 1 1 0.8975 low low/neutral
DNAJB1 10 1 1 0 2 1.7300 low neutral
TMCC1 11 0 0 0 1 0.0000 neutral neutral
Methods & Data
Input

  1. CESC-TP.maf.annotated

  2. sig_genes.txt

  3. Mutation Assessor Scores Release 2:

A lookup is done against the relevant Mutation Assessor Scores table for each missense mutation in a given MAF file, and available functional impact score and level are appended as two new columns to generate CESC-TP.maf.annotated. These are summarized in Table 1, sorted by MutSig rank.

References
[1] Boris Reva, Yevgeniy Antipin, and Chris Sander, Predicting the functional impact of protein mutations: application to cancer genomics, Nucl. Acids Res. 39(17):e118 (2011)
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