[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






More information about the Dev mailing list