[ensembl-dev] Codon called wrong in VEP when using custom build cache
Heidi Viitaniemi
hmviit at utu.fi
Mon Mar 18 13:48:00 GMT 2013
Hi,
I'm running version 2.7 on a unix server. I want to create a custom
cache using my own gtf and fasta with gtf2vep.pl. This works without
problem and also running VEP seems to go fine. The problem is that, in
the output it seems that the cDNA_position, CDS_position and
Protein_position are correct given my input gtf file but the calls for
Amino_acids and Codons seem completely random. If I run against the
cache retrieved from ensembl these are all correct. The version of the
genome didn't have an effect on the output, the gtf's haven't changed.
The gtf and the fasta that I'm using for the custom originate from the
ensembl reference so I don't see any reason why the custom cache
shouldn't perform the same way as the reference from ensembl cache.
Could there be bug that somehow messes up the link between the custom
gtf and fasta in my run? Below are the commands I ran and a snippet of
the output's I got.
Thanks,
Heidi Viitaniemi
For custom cache I'm running (wrong output for Amino_acids and Codons)
perl gtf2vep.pl -i GasAcu1.67_group_xixflip.gtf -f
gasAcu_group_withoutbac_inv7.fa -d 67 -s
Gasterosteus_aculeatus_XIXflipped_18032013
perl variant_effect_predictor.pl -offline 1 -dir $HOME/.vep -i
ens_realigned_AK_F.var.vcf -format vcf -fork 4 -db_version 67 -species
Gasterosteus_aculeatus_XIXflipped_18032013 -numbers -per_gene
-buffer_size 10000 -o VEP_18032013_exon_pergene_AK_F.var.vcf.txt
groupXIX_2822477_C/T groupXIX:2822477 T ENSGACG00000003129
ENSGACT00000004109 Transcript missense_variant 67 49 17 G/R
Gga/Aga - EXON=1/2
groupXIX_2822500_T/C groupXIX:2822500 C ENSGACG00000003129
ENSGACT00000004109 Transcript missense_variant 44 26 9 Y/C
tAt/tGt - EXON=1/2
groupXIX_2822523_C/T groupXIX:2822523 T ENSGACG00000003129
ENSGACT00000004109 Transcript synonymous_variant 21 3 1 R
cgG/cgA - EXON=1/2
groupXIX_2822541_T/A groupXIX:2822541 A ENSGACG00000003129
ENSGACT00000004109 Transcript 5_prime_UTR_variant 3 - - - - -
EXON=1/2
For ensembl cache I'm running (correct output for Amino_acids and Codons)
perl variant_effect_predictor.pl -offline -dir $HOME/.vep -i
ens_realigned_AK_F.var.vcf -format vcf -fork 4 -db_version 69 -species
gasterosteus_aculeatus -numbers -per_gene -buffer_size 10000 -o
ensVEP_18032013_exon_pergene_AK_F.var.vcf.txt
groupXIX_2822477_C/T groupXIX:2822477 T ENSGACG00000003129
ENSGACT00000004109 Transcript missense_variant 67 49 17 A/T
Gcg/Acg - EXON=1/2
groupXIX_2822500_T/C groupXIX:2822500 C ENSGACG00000003129
ENSGACT00000004109 Transcript missense_variant 44 26 9 D/G
gAc/gGc - EXON=1/2
groupXIX_2822523_C/T groupXIX:2822523 T ENSGACG00000003129
ENSGACT00000004109 Transcript initiator_codon_variant 21 3 1 M/I
atG/atA - EXON=1/2
groupXIX_2822541_T/A groupXIX:2822541 A ENSGACG00000003129
ENSGACT00000004109 Transcript 5_prime_UTR_variant 3 - - - - -
EXON=1/2
--
______________________________________________
Heidi Viitaniemi
PhD student
Division of Genetics and Physiology
Department of Biology
Itäinen Pitkäkatu 4A, 7th floor (Pharmacity)
University of Turku
20520 Turku
FINLAND
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