ancillary-transcript-region-type

This value set includes only the transcript associated regions that is associated with a transcript allele instance reference coordinate.

Scope and Usage

ancillaryTranscriptRegionType allows for the use of additional region types which can be used to clarify and add depth to the primary-transcript-region-type. Additionally, this type allows a single annotation using a term not included in the primary list.

ancillaryTranscriptRegionType:

This type is currently constraint to be a child of transcript_region within the Sequence Ontology. Accurate annotation of ancillary-transcript-region-type will not contain terms found in primary-transcript-region-type.

Examples:

ancillaryTranscriptRegionType: (cardinality of 0..*)

  • This attribute allows for a couple of possibilities.
    1. First to allow additional detail in describing the location of the feature related to the variant. 2. Second, it allows the uses of terms that may better describe the feature of interest, not offered in the primary list.

The first case:

Type Display Name Code
primaryTranscriptRegionType CDS SO:0000316
ancillaryTranscriptRegionType transcription_start_site SO:0000315

More examples:

Type Display Name Code
primaryTranscriptRegionType splice_site SO:0000162
ancillaryTranscriptRegionType three_prime_cis_splice_site SO:0000164
Type Display Name Code
primaryTranscriptRegionType five_prime_UTR SO:0000204
ancillaryTranscriptRegionType upstream_AUG_codon SO:000063

These methods offers two levels of annotated detail. The primaryTranscriptRegionType term enables higher-level grouping, and the ancillaryTranscriptRegionType offers additional specifics on the nature and location of the variant.

The second case:

Type Display Name Code
ancillaryTranscriptRegionType promoter SO:0000167
Type Display Name Code
ancillaryTranscriptRegionType cryptic_splice_site SO:0001533

Exclusions and Limitations

Additional terms can be submitted for review via the sequence ontology request a term