about maftools and gene names
1
0
Entering edit mode
Bogdan ▴ 670
@bogdan-2367
Last seen 13 months ago
Palo Alto, CA, USA

Dear all, please could you advise : how does MAFTOOLS treat the annovar files with the gene names ? For examples, shall I have a file (below), the questions would be :

> head(var.annovar.maf)
          Hugo_Symbol Entrez_Gene_Id   Center NCBI_Build Chromosome
1:             WASH7P             NA STANFORD       hg38       chr1
2:     FAM138D,OR4F16             NA STANFORD       hg38       chr1
3:             ZYG11B             NA STANFORD       hg38       chr1
4: LINC01206,FLJ46066             NA STANFORD       hg38       chr3
5: TRHDE,LOC101928137             NA STANFORD       hg38      chr12
6:              TMTC2             NA STANFORD       hg38      chr12
   Start_Position End_Position Strand Variant_Classification Variant_Type
1:          21282        21282      +                    RNA          SNP
2:         282266       282266      +                    IGR          SNP
3:       52783942     52783942      +                 Intron          INS

-- 1. how does MAFTOOLS parses  the Hugo_Symbols "FAM138D,OR4F16  " or "LINC01206,FLJ46066", and

-- 2. what does IGR means in the Variant_Classification column ?

thank you !

 

 

maftools • 1.7k views
ADD COMMENT
0
Entering edit mode
anand_mt ▴ 90
@anand_mt-10016
Last seen 3.7 years ago

1. It doesn't parse Hugo_Symbols and uses them as is. I think in your case its due to annovar annotations, it assigned them to two different genes (or synonyms of same gene, not sure). I would highly suggest to use VEP as its much smarter and picks a prioritized canonical transcript. Or even better is use maf2maf (https://github.com/mskcc/vcf2maf). It wraps around VEP and does the rest for you (But I find its installation a bit frustrating).  

2. IGR -> Variant is in Intergenic Region 

 

 

 

 

ADD COMMENT

Login before adding your answer.

Traffic: 881 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6