pseudoexon_variant

SO:0002390

Definition: Inclusion of a non-conserved, unannotated exon in the spliced transcript, as a consequence of a variant in the gene.

Comments and references

Added at the request of Melissa Landrum of the NCBI on 31 July 2025 (see GitHub issue #657).

Definition references: PMID:38860315

Synonyms

ScopeValue
exactincluded pseudoexon
exactpseudoexon

Identifiers and subsets

Accession: SO:0002390

Persistent URL: http://purl.obolibrary.org/obo/SO_0002390

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: 2025-07-31 in commit 68365c6

Most recent Git-era change: 2025-07-31 in commit a4783b4

Number of changes: 2

Ontology neighborhood diagram

Ontology neighborhood for SO:0002390 Ontology neighborhood graph for SO:0002390 pseudoexon_variant. Parent, child, and related nodes can be activated to open their term pages. SO:0001568 splicing_variant SO:0001568 splicing_variant SO:0002390 pseudoexon_variant SO:0002390 pseudoexon_variant
The local DAG shows nearby parent, child, and related terms. Each node links to its own term page.

Relationships

Parents

Children

None recorded in the current release neighborhood.

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
2025-07-31editedTerm stanza touched in repository historya4783b4
2025-07-31createdTerm introduced into the editable ontology history
Initial label: pseudoexon_variant
Initial definition captured.
Initial parent: SO:0001568
68365c6