Sequence Ontology

A shared vocabulary for biological sequence features and annotations

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NMD_escaping_variant

SO:0002320

Definition: A sequence variant that leads to a change in the location of a termination codon in a transcript but allows the transcript to escape nonsense-mediated decay (NMD). The change in location of a termination codon can be caused by several different types of sequence variants, including stop_gained (SO:0001587), frameshift_variant (SO:0001589), splice_donor_variant (SO:0001575), and splice_acceptor_variant (SO:0001574) types of variants.

Comments and references

Added as per request from Ang Roberts as part of GenCC November 2020.

Definition references: GenCC:AR

Synonyms

ScopeValue
exactNMD escaping variant
exactnonsense-mediated decay escaping variant

Identifiers and subsets

Accession: SO:0002320

Persistent URL: http://purl.obolibrary.org/obo/SO_0002320

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: 2020-12-30 in commit 5e13381

Most recent Git-era change: 2020-12-30 in commit 5e13381

Number of changes: 1

Ontology neighborhood diagram

Ontology neighborhood for SO:0002320 Ontology neighborhood graph for SO:0002320 NMD_escaping_variant. Parent, child, and related nodes can be activated to open their term pages. SO:0002218 functionally_abnormal SO:0002218 functionally_abnormal SO:0002320 NMD_escaping_variant SO:0002320 NMD_escaping_variant SO:0002328 splice_acceptor_variant_NMD_escaping SO:0002328 splice_acceptor_variant_NMD_escaping SO:0002326 splice_donor_variant_NMD_escaping SO:0002326 splice_donor_variant_NMD_escaping SO:0002322 stop_gained_NMD_escaping SO:0002322 stop_gained_NMD_escaping SO:0002324 frameshift_variant_NMD_escaping SO:0002324 frameshift_variant_NMD_escaping
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
2020-12-30createdTerm introduced into the editable ontology history
Initial label: NMD_escaping_variant
Initial definition captured.
Initial parent: SO:0002218
5e13381
#521