Scope and Usage
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| contextualAllele | ContextualAllele | 0..1 | Allele defined with respect to the measured transcript | SEPIO:0000275 | AlleleFunctionalImpactStatement |
| gene | @id | 0..1 | Gene to which the functional data applies | SEPIO:0000278 | AlleleFunctionalImpactStatement |
| resultDescription | string | 0..1 | Result of the functional experiment | SEPIO:0000424 | AlleleFunctionalImpactStatement |
| assayType | @id | 0..1 | Specific type of functional data collected | SEPIO:0000255 | AlleleFunctionalImpactStatement |
| 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 | contextualAllele | gene | resultDescription | assayType |
|---|---|---|---|---|---|---|---|---|---|
|
Expression of human SPG7 (with this mutation) in yeast with damaged m-AAA protease did not restore respiratory growth or MrpL32 processing, if the function of AFG3L2 was impaired. |
(SPG7) |
Functionally Damaging |
(Yeast complementation assay) | ||||||
|
Both wild type and NP_000432..1:p.Leu117Phe localize to the same location |
(SLC26A4) |
localized to apical membrane |
(cellular localization) | ||||||
| (TNNT2) |
the mutation lowered the Ca2+ affinity of the reconstituted thin filaments; |
(Binding assay) | |||||||
| (TNNT2) |
reduced Ca2 sensitivity of activation |
(ATPase assay) | |||||||
| (TNNT2) |
reduced Ca2 sensitivity of activation |
(motility assay) | |||||||
| (TNNT2) |
desensitized Ca2+ binding to the thin filament. |
(Binding assay) | |||||||
| (MEK) |
abnormal/deceased MEK activtation. |
(Activation Assay) | |||||||
| (ERK) |
abnormal/deceased ERK activtation. |
(Activation Assay) | |||||||
| (SOS1) |
increased ERK activtation |
(Activation Assay) | |||||||
| (SLC26A4) |
Unchanged from reference |
(iodide efflux) | |||||||
| (SPRED1) |
Unchanged from reference |
(Elk1 pohsphorylation via luciferase assay) | |||||||
| (SPRED1) |
localized to apical membrane |
(Elk1 pohsphorylation via luciferase assay) |