Out of Scope for HL7 Sep 2018 Ballot Cycle: Molecular Biology Sub-Domain::Gene

: Public Class

Created:	6/6/2006 10:44:46 AM
Modified:	8/26/2017 2:24:23 AM

Project:
Author:
Version:	1.0
Phase:	1.0
Status:
Complexity:	Easy
Difficulty:
Priority:
Multiplicity:
Advanced:
UUID:	{C3349EE1-E437-4ce4-A8D6-7F453F615D5E}
Appears In:	UML-Based Comprehensive BRIDG Model Diagram, View MB: Molecular Biology, SDTM 3.1.3 View

DEFINITION: A functional unit of heredity that occupies a specific position (locus) on a particular chromosome, is capable of reproducing itself exactly at each cell division, and directs the formation of a protein or other product. Comment Requested: In interest of re-using existing standards, should the above definition of Gene be replaced by the following from the NLM - The basic physical and functional unit of heredity. It is made up of DNA and act as instructions to make molecules called proteins. [Source: http://ghr.nlm.nih.gov/handbook/basics/gene] EXAMPLE(S): BRCA1 gene OTHER NAME(S): NOTE(S):

Attributes
Associations To
Associations From
Tagged Values
Other Links

Attribute

Public ID
identifier

Details:

Alias:
Initial:
Stereotype:
Ordered:
Range:	Range:1. to 1
Transient:	False
Derived:	False
IsID:	False

Map:LSDAMv2.2.3Plus=GeneIdentifier.identifier

Notes:

DEFINITION: A unique symbol that establishes the identity of the gene. EXAMPLE(S): For the 14-3-3 eta gene (a protein), here are some identifiers from various organizations: <ul>
<li>ENSG00000128245 from Ensembl </li><li>12853 from HGNC </li><li>00215 from HPRD </li><li>7533 from NCBI</li></ul>
 OTHER NAME(S): NOTE(S):

Public DSET<SC>
name

Details:

Alias:
Initial:
Stereotype:
Ordered:
Range:	Range:0 to 1
Transient:	False
Derived:	False
IsID:	False

Map:LSDAMv2.2.3Plus=Gene.name
Map:PGx v1.0=PB.PBGENRI

Notes:

DEFINITION: The English language identifier of a gene as defined by the specified source. EXAMPLE(S): Breast cancer type 1 susceptibility gene OTHER NAME(S): NOTE(S):

Public DSET<SC>
symbol

Details:

Alias:
Initial:
Stereotype:
Ordered:
Range:	Range:0 to 1
Transient:	False
Derived:	False
IsID:	False

Map:LSDAMv2.2.3Plus=Gene.symbol

Notes:

DEFINITION: A conventional sign used for representing the gene, based on the identified source. EXAMPLE(S): As a string with an optional code, an example of Gene.symbol is as follows: the value "BRCA1" is both the string and the code and the code system name is "HGNC". OTHER NAME(S): NOTE(S):

Element	Source Role	Target Role
Protein Class	Name: encodingGene	Name: encodedProtein
Details: DESCRIPTION:<br/>Each Gene might encode one or more Protein. Each Protein might be encoded by one or more Gene.<br/><br/>DEFINITION:<br/><br/>EXAMPLE(S):<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
MessengerRNA Class	Name: transcribedFromGene	Name: transcribedToMessengerRNA
Details: DESCRIPTION:<br/>Each Gene might be transcribed to one or more MessengerRNA. Each MessengerRNA might be transcribed from one or more Gene.<br/><br/>DEFINITION:<br/><br/>EXAMPLE(S):<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>

Element	Source Role	Target Role
Pathway Class	Name: involvingPathway	Name: involvedGene
Details: DESCRIPTION:<br/>Each Pathway might involve one or more Gene. Each Gene might be involved in one or more Pathway.<br/><br/>DEFINITION:<br/><br/>EXAMPLE(S):<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Exon Class	Name: locatedExon	Name: locatingGene
Details: DESCRIPTION:<br/>Each Exon might be located in one or more Gene. Each Gene might have one or more Exon.<br/><br/>DEFINITION:<br/><br/>EXAMPLE(S):<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
Intron Class	Name: locatedIntron	Name: locatingGene
Details: DESCRIPTION:<br/>Each Intron might be located in one or more Gene. Each Gene might have one or more Intron.<br/><br/>DEFINITION:<br/><br/>EXAMPLE(S):<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>
MolecularBiomarkerGroup Class	Name: basingMolecularBiomarkerGroup	Name: basedGene
Details: DESCRIPTION:<br/>Each MolecularBiomarkerGroup might be based on one or more Gene. Each Gene might be the basis of one or more MolecularBiomarkerGroup.<br/><br/>DEFINITION:<br/><br/>EXAMPLE(S):<br/><br/>OTHER NAME(S):<br/><br/>NOTE(S):<br/>

Tag	Value
Map:LSDAMv2.2.3Plus	Gene
Details:
Map:PGx v1.0	PB.PBGENTYP
Details:

Object	Type	Connection	Direction	Notes
NucleicAcidSequenceFeature	Class	Generalization	To	DESCRIPTION: Each Gene always specializes one NucleicAcidSequenceFeature. Each NucleicAcidSequenceFeature might be specialized by one Gene. DEFINITION: EXAMPLE(S): OTHER NAME(S): NOTE(S):