SO:0001572 - exon_loss

exon_loss_variant

SO:0001572

Definition: A sequence variant whereby an exon is lost from the transcript.

Comments and references

Added "skipped exon" as a synonym of exon_loss_variant at the request of Melissa Landrum of the NCBI on 31 July 2025 (see GitHub issue #657).

Definition references: SO:ke

Synonyms

Scope	Value
exact	Jannovar:exon_loss_variant
exact	exon loss
exact	skipped exon
exact	snpEff:EXON_DELETED

Identifiers and subsets

Accession: SO:0001572

Persistent URL: http://purl.obolibrary.org/obo/SO_0001572

Alternate IDs: None

Subsets: None

Cross references: http://snpeff.sourceforge.net/SnpEff_manual.html

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 a3c38be

Number of changes: 2

Ontology neighborhood diagram

The local DAG shows nearby parent, child, and related terms. Each node links to its own term page.

Relationships

Parents

SO:0001568 - splicing_variant

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.

Date	Change	Summary	Evidence
2025-07-31	synonym added	Synonym added: skipped exon Scope: exact	`a3c38be`
2016-12-05	created	Term introduced into the editable ontology history Initial label: exon_loss_variant Initial definition captured. Initial parent: SO:0001568	`92e3cae`