Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

SEQUENCE ONTOLOGY - ANNOTATIONS

The Sequence Types and Features Ontology (SO) is downloaded weekly from the SourceForge CVS repository at http://song.cvs.sourceforge.net/viewvc/song/ontology/. For more information about this ontology, see the Sequence Ontology Home Page at http://www.sequenceontology.org/.

Term:splice_region_variant
go back to main search page
Accession:SO:0001630 term browser browse the term
Definition:A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron.
Comment:EBI term: splice site - 1-3 bps into an exon or 3-8 bps into an intron.
Synonyms:exact_synonym: Jannovar:splice_region_variant;   VAAST:splice_region_variant;   VEP:splice_region_variant;   snpEff:SPLICE_SITE_REGION;   splice region variant
 related_synonym: ANNOVAR:splicing;   snpEff:SPLICE_SITE_BRANCH;   snpEff:SPLICE_SITE_BRANCH_U12
 xref: http://snpeff.sourceforge.net/SnpEff_manual.html;   http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  SO ontology 0
    sequence_variant 0
      structural_variant 0
        feature_variant 0
          gene_variant 0
            transcript_variant 0
              splicing_variant 0
                splice_region_variant 0
                  exonic_splice_region_variant 0
                  non_coding_transcript_splice_region_variant 0
                  splice_donor_region_variant 0
paths to the root