[ensembl-dev] VEP perl script vs web
Sung Gong
gong.sungsam at gmail.com
Fri Jul 8 18:11:06 BST 2011
Hi,
Thanks for developing VEP and make it available to the public.
I found some discrepancies between the web version of VEP and the perl
script for the data shown below:
Chr Start End Allele
1 6264301 6264301 A/G
>From the web version, it returns eight entries which are shown below:
Uploaded Variation Location Allele Gene Feature Feature
type Consequence Position in cDNA Position in CDS Position in
protein Amino acid change Codon change Co-located Variation Extra
1_6264301_A/G 1:6264301-6264302 A ENSG00000116251 ENST00000462296 Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301-6264302 A ENSG00000158286 ENST00000377948 Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301-6264302 A ENSG00000116251 ENST00000471204 Transcript WITHIN_NON_CODING_GENE,INTRONIC - - - - - - -
1_6264301_A/G 1:6264301-6264302 G ENSG00000158286 ENST00000485539 Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301-6264302 A ENSG00000158286 ENST00000466994 Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301-6264302 G ENSG00000116251 ENST00000234875 Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301-6264302 G ENSG00000158286 ENST00000377948 Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301-6264302 A ENSG00000116251 ENST00000234875 Transcript UPSTREAM - - - - - - -
However, using the perl script, the same position is mapped onto 14
Ensembl transcript as shown below:
1_6264301_A/G 1:6264301 G ENSG00000116251 ENST00000465387
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000226944 ENST00000455744
Transcript DOWNSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000116251 ENST00000234875
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000158286 ENST00000377939
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000116251 ENST00000497965
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000158286 ENST00000485539
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000158286 ENST00000484435
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000116251 ENST00000480661
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000158286 ENST00000377948
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000116251 ENST00000462296
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000158286 ENST00000466994
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000116251 ENST00000471204
Transcript WITHIN_NON_CODING_GENE,INTRONIC - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000158286 ENST00000496676
Transcript UPSTREAM - - - - - - -
1_6264301_A/G 1:6264301 G ENSG00000116251 ENST00000465335
Transcript WITHIN_NON_CODING_GENE,INTRONIC - - - - - - -
Strangely, the Ensembl gene, ENSG00000226944, from the second entry
above is not even shown from the web version of VEP. Also, there are
two allele types (A and G) from the web version whereas G from the
perl script.
In addition, the position which I queried (chr1:6264301-6264301) only
belongs to the chromosome location of ENSG00000116251 amongst the
three Ensembl gene identifiers (ENSG00000116251, ENSG00000226944, and
ENSG00000158286) - see below:
http://www.ensembl.org/Homo_sapiens/Search/Details?species=Homo_sapiens;idx=Gene;end=1;q=ENSG00000116251
http://www.ensembl.org/Homo_sapiens/Search/Details?species=Homo_sapiens;idx=Gene;end=1;q=ENSG00000226944
http://www.ensembl.org/Homo_sapiens/Search/Details?species=Homo_sapiens;idx=Gene;end=2;q=ENSG00000158286
Did I miss something?
Any help?
Cheers,
Sung
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