Clarification on comments re Exon

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CLOSED - Need clarification on comments re Exon (row 23)

Current Definitions

Exon

DEFINITION: A portion of a gene sequence that is transcribed into the final mRNA product.

EXAMPLE(S): Dystrophin exon 68

OTHER NAME(S):

NOTE(S): An image showing splicing may be a better example of this class.

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

DEFINITION: A coded value specifying the category of the nucleic acid sequence feature.

EXAMPLE(S): DNA methylation

OTHER NAME(S):

NOTE(S): [Glycosylation Site:C16643, C37901; Binding Site:C13671]

Ballot Comment

do you really want Dystrophin exon 68 within this field? It makes it an uncoded string

Current Disposition

Pending Input From Submitter

Proposed Disposition Comment

Need clarification and SME input - sounds like the example in BRIDG ("Dystrophin exon 68") is not really a typeCode (one of two inherited attributes, orientation is the other) and therefore causing confusion. If it's a name then is BRIDG missing an attribute?

Outstanding Questions

  • What would be a more appropriate example for Exon?
  • Do we need to change anything about the inherited typeCode attribute?

Responses

Lauren Becnel: Dystrophin exon 23, for example, is a better example than exon 58 because 23 is an exon that is translated to protein and important for some mouse models of the human disease.

UPDATE DONE IN THE MODEL


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