This is super easy! Thanks.
I have a list of > 45 variants. I need to get the exact position of those variants (i.e. chr#:start-end) knowing the gene name affected, base change, and refseqID (NM#) for each variant. Below are few lines as an example of my data:
Gene----------BaseChange----------refseqID
MAN1B1------c.1897G >T------------NM_016219
CRY1----------c.272G >A-------------NM_004075
Some people suggested using MutationTaster to do this, but I couldn't figure out how to use it. Any suggestion on how to use MutationTaster, or any other method to get the variants positions would be highly appreciated.
1 answer
Hello bisansamara,
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fin swimmer
if you can install transvar on your machine, it would be much easy:
$ tail -n+2 test.txt |transvar canno -l - -g 1 -m 2 --refseq | cut -f1,2,5 | awk '{gsub("[|/(]","\t")}1' |cut --complement -f3,5,7 | tail -n+2
MAN1B1 c.1897G>T XM_006716945 chr9:g.137107663G>T p.V633L
MAN1B1 c.1897G>T NM_016219 chr9:g.137108388G>T p.V633F
CRY1 c.272G>A NM_004075 chr12:g.107005244C>T p.W91*
input:
$ cat test.txt
Gene BaseChange refseqID
MAN1B1 c.1897G>T NM_016219
CRY1 c.272G>A NM_004075
If you want only for the transcripts in the list:
$ tail -n+2 test.txt |transvar canno -l - -g 1 -m 2 -t3 --refseq | cut -f1,2,5 | awk '{gsub("[|/(]","\t")}1' |cut --complement -f3,5,7 | tail -n+2
MAN1B1 c.1897G>T NM_016219 chr9:g.137108388G>T p.V633F
CRY1 c.272G>A NM_004075 chr12:g.107005244C>T p.W91*
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see Amino Acid Change To Genomic Location ;