[ensembl-dev] SNP consequence prediction
Andrea Edwards
edwardsa at cs.man.ac.uk
Tue Nov 9 14:57:15 GMT 2010
Hello
question 1
I was looking at the different types of consequences you can get for a
SNP with the ensembl api and I would like to cliary the difference
between splice site and essential splice site
essential splice site:
first/last 2 bp of an intron
NOT in exon at all?
splice site:
1-3bp into exon (does this mean at either the start or the end of the exon?)
3-8bp into intron (does this mean at either the start or the end of the
intron?)
===========================
question 2
Does the api offer any consequence prediction if the SNP is found to be
in an ncRNA? I didn't see any type of RNA feature on the list of option.
Might an RNA such as an miRNA be classed as a regulatory region ?
Is there a list of the genetic elements that are represented by the
'regulatory region' category
====================
Many thamks
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