cryptic_splice_site_variant

SO:0001569

Definition: A sequence variant causing a new (functional) splice site.

Comments and references

Added "cryptic splice site" as a synonym of cryptic_splice_site_variant at the request of Melissa Landrum of the NCBI on 31 July 2025 (see GitHub issue #657).

Definition references: EBI:www.ebi.ac.uk/mutations/recommendations/mutevent.html

Synonyms

ScopeValue
exactcryptic splice site
exactcryptic splice site activation

Identifiers and subsets

Accession: SO:0001569

Persistent URL: http://purl.obolibrary.org/obo/SO_0001569

Alternate IDs: None

Subsets: None

Cross references: None

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: 2025-07-31 in commit 3df4ef1

Number of changes: 3

Ontology neighborhood diagram

Ontology neighborhood for SO:0001569 Ontology neighborhood graph for SO:0001569 cryptic_splice_site_variant. Parent, child, and related nodes can be activated to open their term pages. SO:0001568 splicing_variant SO:0001568 splicing_variant SO:0001569 cryptic_splice_site_variant SO:0001569 cryptic_splice_site_variant SO:0001571 cryptic_splice_donor SO:0001571 cryptic_splice_donor SO:0001570 cryptic_splice_acceptor SO:0001570 cryptic_splice_acceptor
The local DAG shows nearby parent, child, and related terms. Each node links to its own term page.

Relationships

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
2025-07-31synonym addedSynonym added: cryptic splice site
Scope: exact
3df4ef1
2022-04-25xref removedCross reference removed: EBI:www.ebi.ac.uk/mutations/recommendations/mutevent.html476626e
2016-12-05createdTerm introduced into the editable ontology history
Initial label: cryptic_splice_site_variant
Initial definition captured.
Initial parent: SO:0001568
92e3cae