[Feedback] Site Feedback: Variant effect predictor Web Tool is broken!
feedback at gramene.org
feedback at gramene.org
Thu Jul 24 10:57:51 EDT 2014
URL : http://ensembl.gramene.org/Sorghum_bicolor/Variation/Explore?db=core;g=Sb03g038160;r=3:66091220-66091225;source=Morris 2013;t=Sb03g038160.1;v=S3_66091222;vdb=variation;vf=93377
Subject : Site Feedback: Variant effect predictor Web Tool is broken!
Name : Daniel Burkhardt
Email : dburkhar at umass.edu
Organization: UMass Amherst / CSHL
Comments :
This is a missense SNP in Sorghum bicolor:
3 66091222 66091222 C/A +
I can tell you its a SNP because Gramene tells me it's a SNP: http://ensembl.gramene.org/Sorghum_bicolor/Variation/Explore?db=core;g=Sb03g038160;r=3:66091220-66091225;source=Morris%202013;t=Sb03g038160.1;v=S3_66091222;vdb=variation;vf=93377
However, when I search for it using the VEP tool, I get this:
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
3_66091222_C/A 3:66091222 A - - - intergenic_variant - - - - - S3_66091222 -
Which is strange because when you view the SNP in the genome browser, it's clearly in the coding region of the protein.
In fact, EVERY single SNP I upload returns the "intergenic_variant" response. Here's a list of SNPs, NONE of which are intergenic, but ALL of which return intergenic via the web tool:
1 72047736 72047736 G/T +
3 66088641 66088641 A/T +
3 66088704 66088704 C/A +
3 66089468 66089468 G/T +
3 66091222 66091222 C/A +
3 66092453 66092453 C/A +
5 2718318 2718318 T/C +
6 58815534 58815534 T/A +
6 58816731 58816731 A/T +
9 2560825 2560825 C/T +
9 2560980 2560980 C/T +
1 15926295 15926295 C/G +
1 15938101 15938101 T/C +
2 55729112 55729112 G/A +
10 50233259 50233259 T/A +
10 50233609 50233609 A/T +
Interestingly, the API downloadable version of VEP works fine. I think this could be an issue with how VEP on the website connects with the Ensembl database.
http://www.warelab.org/bugs/view.php?id=4995
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