Scope and Usage
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| allele | ContextualAllele | 0..* | Alleles that are being explicited assessed as either included or excluded from the region. | SEPIO:0000275 | RegionAllelesStatement |
| statementOutcome | @id | 1..1 | Assessed outcome of specified alleles as either included or excluded. | SEPIO:0000197 | RegionAllelesStatement |
| region | SequenceLocation | 1..1 | Region within which alleles are being measured | SEPIO:0000279 | RegionAllelesStatement |
| label | string | 0..1 | A name given to the resource. | RDFS:label | Entity |
| description | string | 0..1 | Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. | DC:description | Entity |
| userLabelDictionary | UserLabel | 0..* | An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels. | SEPIO:0000422 | Statement |
| outcomeQualifier | string | 0..1 | Use “NOT” as the value of this property to assert that the statement is negated. | SEPIO:0000346 | Statement |
| evidenceLine | EvidenceLine | 0..* | supporting evidence | SEPIO:0000006 | Statement |
| contribution | Contribution | 0..* | The contributions (agent, time and role) made to this entity | SEPIO:0000159 | Statement |
| source | string | 0..* | A string indicating the source of a Statement | DC:source | Statement |
Instances
| ID | label | description | userLabelDictionary | outcomeQualifier | evidenceLine | allele | statementOutcome | region |
|---|---|---|---|---|---|---|---|---|
|
This region is the catalytic (kinase) domain. |
(overlaps region) | |||||||
|
This region is exon 15 in the transcript, and codes the serine-threonine-protein kinase catalytic domain. |
(overlaps region) | |||||||
|
The region contains the following pathogenic variants: c.886A>G, c.890C>T, c.899T>C, & c.902G>A. |
(overlaps region) | |||||||
|
region is repeating but does not have a known function. |
(overlaps region) | |||||||
|
Allele NM_133378.4 (TTN): c.26752_26761delACGGCAGAGC is contained by this region. |
(overlaps region) | |||||||
| (overlaps region) |