Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

strand error assignment #248

Open
asilvestris84 opened this issue Jul 4, 2024 · 1 comment
Open

strand error assignment #248

asilvestris84 opened this issue Jul 4, 2024 · 1 comment

Comments

@asilvestris84
Copy link

Hi,
I don't undestrand why (hg39) chr4 39550356 39550356 T C
is annotated by annovar as chr4 39550356 39550356 T C ncRNA_intronic UGDH-AS1
if UGDH-AS1 is annotated on the strand + while SMIM14 is on the - strand.
please can you help me understand? Apparently there is an error in the strand to which the SNP has been assigned.
My command: /lustrehome/asilvestris/exe/annovar/table_annovar.pl --buildver hg38 --outfile annovar_ncbiRefSeqCurated --protocol ncbiRefSeqCurated,rmsk --operation g,r, index_ann /lustrehome/asilvestris/exe/annovar/humandb
Thanks
Alessandro

@jammywwh
Copy link

jammywwh commented Jul 16, 2024

Hi, @asilvestris84
Try to add --argument "-separate", in your command.
/lustrehome/asilvestris/exe/annovar/table_annovar.pl --buildver hg38 --outfile annovar_ncbiRefSeqCurated --protocol ncbiRefSeqCurated,rmsk --operation g,r --argument "-separate", index_ann /lustrehome/asilvestris/exe/annovar/humandb
As described in https://annovar.openbioinformatics.org/en/latest/user-guide/gene/,

"The value of the first column takes the following precedence (as of December 2010 and later version of ANNOVAR): exonic = splicing > ncRNA> > UTR5/UTR3 > intron > upstream/downstream > intergenic."

SMIM14 gene: UTR3
UGDH-AS1 gene: ncRNA_intronic
So chr4 39550356 39550356 T C is annotated by annovar as ncRNA_intronic UGDH-AS1,
add --argument "-separate",, the variant will annotated as ncRNA_intronic;UTR3 UGDH-AS1;SMIM14.

I hope this answer helps you.
Jammy

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

2 participants