[ensembl-dev] Fwd: Custom annotation with vep
Miguel Perez-Enciso
Miguel.Perez at uab.cat
Tue Sep 17 21:28:32 BST 2013
Dear developers
I am trying to use variant_effect_predictor.pl with a custom gtf file, I run these commands below but it seems that, although it reads my gtf file, it does not recognize the genes and returns all intergenic variants. I attach also the first rows of my gff file. I have installed latest v. (73). Could you help? Thanks a lot!
Miguel Perez Enciso
sort -k1,1 -k4,4n -k5,5n GFF_NDJ_TR.gtf | bgzip > GFF_NDJ_TR.gtf.gz
tabix -p gff GFF_NDJ_TR.gtf.gz
file=in.vcf
perl variant_effect_predictor.pl --custom GFF_NDJ_TR.gtf.gz,myFeatures,gff,overlap,0 -i $file --species sus_scrofa -o $file.annot --format vcf --offline --force_overwrite --cache
# gtf file
1 protein_coding stop_codon 21476516 21476514 . - . gene_id GRM1-201
1 protein_coding exon 21477448 21476379 . - . gene_id GRM1-201
1 protein_coding CDS 21477448 21476517 . - . gene_id GRM1-201
...
The first lines of annot file are ( so it does read my annotation file)
## ENSEMBL VARIANT EFFECT PREDICTOR v73
## Output produced at 2013-09-17 22:04:13
## Connected to
## Using cache in /home/miguel/.vep/sus_scrofa/73
## Using API version 73, DB version ?
## Extra column keys:
## DISTANCE : Shortest distance from variant to transcript
## myFeatures : /home/miguel/Documents/ngs/GFF_NDJ_TR.gtf.gz (overlap)
#Uploaded_variation Location Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation Extra
5_63894199_C/T 5:63894199 T - - - intergenic_variant - - - - - -
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