[ensembl-dev] Question about NMD_transcript_variant

Will McLaren wm2 at ebi.ac.uk
Fri Nov 14 03:35:19 GMT 2014


Hi Matt,

The NMD here refers to a property of the transcript, i.e. the variant falls
in a transcript predicted to undergo NMD. There is no prediction AFAIK of
the effect of the variant on this process.

http://sequenceontology.org/browser/release_2.4.4/term/SO:0001621

HTH

Will

On 14 November 2014 08:03, Matt Wood <matt.wood at codifiedgenomics.com> wrote:

> We had a variant come up as synonymous_variant&NMD_transcript_variant.
> We're assuming NMD refers to nonsense mediated decay.
>
> Any idea why VEP thinks a synonymous_variant causes NMD? How does VEP
> determine something is an NMD variant?
>
> Thanks.
>
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