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: 1017

  • Medium Functional Impact Missense Mutations: 5406

  • Low Functional Impact Missense Mutations: 5358

  • Neutral Functional Impact Mutations: 3823

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
1 TP53 0 248 6 1 3.1050 medium medium
2 RB1 0 2 1 2 1.0850 low medium/neutral
3 BRCA1 1 0 0 0 4.3700 high high
4 NF1 1 5 1 0 2.2500 medium medium
5 CDK12 1 2 3 0 1.6500 low low
6 KRAS 0 5 0 0 3.1350 medium medium
7 HNF1B 0 2 1 0 2.3600 medium medium
8 PTEN 1 0 1 0 2.8325 medium high/low
10 BRCA2 0 0 2 2 1.1800 low low/neutral
11 EFEMP1 1 1 0 2 1.1100 low neutral
Methods & Data
Input

  1. OV-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 OV-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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