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: 160

  • Medium Functional Impact Missense Mutations: 405

  • Low Functional Impact Missense Mutations: 291

  • Neutral Functional Impact Mutations: 173

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.

MutSig
Rank 		Gene 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
2 BAP1 1 2 1 1 2.5050 medium medium
3 GNAQ 40 0 0 0 4.3400 high high
4 GNA11 35 0 0 0 3.7700 high high
5 SF3B1 4 14 0 0 3.4600 medium medium
7 CYSLTR2 3 0 0 0 4.1450 high high
8 EIF1B 0 1 0 0 2.3800 medium medium
10 TMEM39A 0 1 1 0 1.6375 low medium/low
14 WISP1 1 0 0 0 3.5850 high high
16 SERTM1 0 0 1 0 0.8950 low low
18 RNF43 0 0 1 1 -0.0750 neutral low/neutral
Methods & Data
Input

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 TCGA-UVM-TP.ma.maf. 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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