Clarification on comments re GeneIdentifier.identifier

From HL7Wiki
Jump to navigation Jump to search

Return to BRIDG

CLOSED - Need clarification on comments re GeneIdentifier.identifier (row 26)

Current Definitions

GeneIdentifier

DESCRIPTION: The unique identification of a gene in a specified context.

EXAMPLE(S): Ensembl Database Identifier for human BRCA1 gene; ENSG00000012048

OTHER NAME(S):

NOTE(S):

GeneIdentifier.identifier (inherited by Exon which is a subclass of NucleicAcidSequenceFeature)

DEFINITION: A unique symbol that establishes the identity of the gene.

EXAMPLE(S): The identifier from the Ensembl, EntrezGene, or GenBank database

OTHER NAME(S):

NOTE(S):

Ballot Comment

need specific examples not description

Current Disposition

Pending Input From Submitter

Proposed Disposition Comment

Need specific examples that are considered representative - can an SME provide or should we pull from the class level example?

Outstanding Question

  • What is a valid, representative value for GeneIdentifier.identifier?

Responses

Lauren Becnel: Symbols, names and identifiers are usually thought of as two separate things. In the existing example, ENSG00000012048 is the identifier from Ensembl. That is fairly unique, but see below for IDs that are not unique if not combined with the organization that issued them. For the 14-3-3 eta gene (protein described above), here are some idenifiers by organization: ENSG00000128245 from Ensembl, 12853 from HGNC, 00215 from HPRD, 7533 fromNCBI

UPDATE DONE IN THE MODEL


Return to BRIDG