Sequence Ontology

A shared vocabulary for biological sequence features and annotations

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functionally_abnormal

SO:0002218

Definition: A sequence variant in which the function of a gene product is altered with respect to a reference.

Comments and references

Added after request from Lea Starita, lea.starita@gmail.com from the NCBI Feb 2019.

Synonyms

ScopeValue
exactfunction modified variant
relatedfunction_modified_variant
relatedfunctionally abnormal

Identifiers and subsets

Accession: SO:0002218

Persistent URL: http://purl.obolibrary.org/obo/SO_0002218

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: 2019-03-01 in commit c44eb50

Most recent Git-era change: 2019-06-10 in commit 756b617

Number of changes: 4

Ontology neighborhood diagram

Ontology neighborhood for SO:0002218 Ontology neighborhood graph for SO:0002218 functionally_abnormal. Parent, child, and related nodes can be activated to open their term pages. SO:0001536 functional_effect_variant SO:0001536 functional_effect_variant SO:0002218 functionally_abnormal SO:0002218 functionally_abnormal SO:0002319 NMD_triggering_variant SO:0002319 NMD_triggering_variant SO:0001773 lethal_variant SO:0001773 lethal_variant SO:0002320 NMD_escaping_variant SO:0002320 NMD_escaping_variant SO:0001538 transcript_function_variant SO:0001538 transcript_function_variant SO:0001539 translational_product_function_variant SO:0001539 translational_product_function_variant SO:0002053 gain_of_function_variant SO:0002053 gain_of_function_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
2019-06-10synonym addedSynonym added: functionally abnormal
Scope: related
756b617
2019-06-10synonym addedSynonym added: function_modified_variant
Scope: related
756b617
2019-06-10label changedLabel changed from function_modified_variant to functionally_abnormal
Before: function_modified_variant
After: functionally_abnormal
756b617
2019-03-01createdTerm introduced into the editable ontology history
Initial label: function_modified_variant
Initial definition captured.
Initial parent: SO:0001536
c44eb50