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  • swNGS
    Member
    • Nov 2011
    • 83

    #1

    Annovar ?missing annotation of intronic variants for splicing

    Dear all,
    Two questions:

    Annovar and annotation of splicing variants
    Does anyone know how annovar annoatates a variant as splicing effect?
    Is it just 'x' bases into/before an exon, or is there more to it than that?
    If thats how it works, does anyone know how many bases into the exon/intron it treats as ?splicing site ?

    Annotation of intronic variants with HGVS-style nomenclature.
    I have not been able to get Annovar to annoate a variant more than a few bases into an intron with its appropriate HGVS-term, eg c.1234-12C>T.
    Its does exonic variants fine, but I want to select variants falling with, say 20 bases before/into an exon to manually check for splicing effects (eg branch site, whcih may be further out from an intron/exon boundary than +/- 2-3 bases)
    Ensembl's variant predictor tool seems to be able to annotate into the intron, just wonderd if Annovar can also.

    I am using annovar with a vcf and running the summarise_annovar.pl script

    Thanks,

    Chris
  • Heisman
    Senior Member
    • Dec 2010
    • 534

    #2
    ANNOVAR by default uses an exon boundary +/- 2bp. However, you can change this value; just run the annotation script without any parameters to see all of the options and you'll see how to do this.

    Comment

    • swNGS
      Member
      • Nov 2011
      • 83

      #3
      That's very helpful. Could I just clarify if changing this parameter simply redefines what annovar assigns as a splice site, or is there a way to get it to make Annovar annotate all intronic variants by default, in addition to a pre-defined distance up/ downstream of the 1st and last exon?

      Comment

      • Heisman
        Senior Member
        • Dec 2010
        • 534

        #4
        Pretty sure it just does all exon boundaries +/- the specified distance. That's all I know. You can simulate some variants at different locations to test this pretty easily.

        Comment

        • rpauly
          Member
          • Apr 2011
          • 32

          #5
          I have same the problem and annovar is not annotating the introns.
          The above solution did not help!

          Anyone has additional suggestions?

          Comment

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