Sequence Ontology

A shared vocabulary for biological sequence features and annotations

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splice_region_variant

SO:0001630

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.

Comments and references

EBI term: splice site - 1-3 bps into an exon or 3-8 bps into an intron.

Definition references: http://ensembl.org/info/docs/variation/index.html

Synonyms

ScopeValue
exactJannovar:splice_region_variant
exactVAAST:splice_region_variant
exactVEP:splice_region_variant
exactsnpEff:SPLICE_SITE_REGION
exactsplice region variant
relatedANNOVAR:splicing
relatedsnpEff:SPLICE_SITE_BRANCH
relatedsnpEff:SPLICE_SITE_BRANCH_U12

Identifiers and subsets

Accession: SO:0001630

Persistent URL: http://purl.obolibrary.org/obo/SO_0001630

Alternate IDs: None

Subsets: None

Cross references: http://snpeff.sourceforge.net/SnpEff_manual.html, http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences

History summary

Term history is reconstructed from the Git-era ontology files by comparing ontology classes across revisions. Earlier SVN-era changes will be added at a future date.

First seen in Git-era editable history: 2016-12-05 in commit 92e3cae

Most recent Git-era change: 2016-12-05 in commit 92e3cae

Number of changes: 1

Ontology neighborhood diagram

Ontology neighborhood for SO:0001630 Ontology neighborhood graph for SO:0001630 splice_region_variant. Parent, child, and related nodes can be activated to open their term pages. SO:0001568 splicing_variant SO:0001568 splicing_variant SO:0001630 splice_region_variant SO:0001630 splice_region_variant SO:0002170 splice_donor_region_variant SO:0002170 splice_donor_region_variant SO:0002084 exonic_splice_region_variant SO:0002084 exonic_splice_region_variant SO:0002088 non_coding_transcript_splice_region_variant SO:0002088 non_coding_transcript_splice_region_variant
The local DAG shows nearby parent, child, and related terms. Each node links to its own term page.

Relationships

Parents

Children

Change history

This timeline summarizes changes identified in SO’s GitHub commit history, including updates to labels, definitions, parent terms, synonyms, subsets, and obsoletion status. It is a best-effort reconstruction and may not include every change to a term. Since only history from GitHub is included at the moment, any term added before the migration from SVN to Git will show as being created in 2016. This will be addressed once SVN history is incorporated.

DateChangeSummaryEvidence
2016-12-05createdTerm introduced into the editable ontology history
Initial label: splice_region_variant
Initial definition captured.
Initial parent: SO:0001568
92e3cae