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: 170

  • Medium Functional Impact Missense Mutations: 375

  • Low Functional Impact Missense Mutations: 356

  • Neutral Functional Impact Mutations: 281

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
GNAQ 1 40 0 0 0 3.9750 high high
GNA11 2 36 0 0 0 4.5300 high high
SF3B1 4 18 0 0 0 3.8050 high high
BAP1 5 1 0 1 2 1.2450 low neutral
PRMT8 6 0 0 5 0 1.3550 low low
CYSLTR2 7 3 0 0 0 4.0750 high high
SELE 10 1 1 0 0 3.7125 high high/medium
PLCB2 11 0 1 0 0 2.5200 medium medium
PLCB4 13 2 1 0 0 3.5550 high high
CSNK1A1L 14 0 1 0 1 1.0150 low medium/neutral
Methods & Data
Input

  1. UVM-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 UVM-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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