Scope and Usage
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| canonicalAllele | CanonicalAllele | 1..1 | The canonical allele on which the prediction is made | SEPIO:0000275 | InSilicoPredictionStatement |
| transcript | @id | 0..1 | The transcript on which the prediction is made | SEPIO:0000283 | InSilicoPredictionStatement |
| statementOutcome | @id | 1..1 | The value of the prediction | SEPIO:0000197 | InSilicoPredictionStatement |
| predictionType | @id | 1..1 | The type of prediction being made | SEPIO:0000255 | InSilicoPredictionStatement |
| algorithm | string | 0..1 | The computational tool or algorithm that makes the prediction | SEPIO:0000130 | InSilicoPredictionStatement |
| 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 | canonicalAllele | transcript | statementOutcome | predictionType | algorithm |
|---|---|---|---|---|---|---|---|---|---|---|
|
Provenance would show that this comes from Alamut |
(NM_000257.2) | (No impact) | (splicing prediction) | |||||||
|
Provenance would show that this comes from Alamut |
(NM_000257.2) | (No impact) | (splicing prediction) | |||||||
| (NM_005228.3) | (Damaging) | (missense effect) |
SIFT |
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| (NM_005228.3) | (Probably damaging) | (missense effect) |
Polyphen |
|||||||
| (NM_005228.3) | (Tolerated) | (missense effect) |
FATHMM |
|||||||
| (NM_005228.3) | (Damaging) | (missense effect) |
LRT |
|||||||
| (NM_005228.3) | (Tolerated) | (missense effect) |
MetaSVM |
|||||||
| (NM_005228.3) | (Tolerated) | (missense effect) |
Mutation assessor |
|||||||
| (NM_005228.3) | (Disease-causing) | (missense effect) |
Mutation taster |
|||||||
| (NM_005228.3) | (Damaging) | (missense effect) |
Provean |
|||||||
| (NM_005228.3) | (Deleterious) | (missense effect) |
Condel |
|||||||
| (ENST00000566221.5) | (Deleterious) | (missense effect) |
SIFT |
|||||||
| (ENST00000566221.5) | (Probably damaging) | (missense effect) |
Polyphen |
|||||||
| (ENST00000566221.5) | (Damaging) | (missense effect) |
FATHMM |
|||||||
| (ENST00000566221.5) | (Damaging) | (missense effect) |
LRT |
|||||||
| (ENST00000566221.5) | (Tolerated) | (missense effect) |
MetaSVM |
|||||||
| (ENST00000566221.5) | (Medium functional impact) | (missense effect) |
Mutation assessor |
|||||||
| (ENST00000566221.5) | (Disease-causing) | (missense effect) |
Mutation taster |
|||||||
| (ENST00000566221.5) | (Damaging) | (missense effect) |
Provean |
|||||||
| (ENST00000566221.5) | (Deleterious) | (missense effect) |
Condel |
|||||||
| (NM_000363.4) | (Tolerated) | (missense effect) |
SIFT |
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| (NM_000363.4) | (Benign) | (missense effect) |
Polyphen2 |
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| (NM_000363.4) | (C0 (benign)) | (missense effect) |
AlignGVGD |
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| (NM_000363.4) | (Disease-causing) | (missense effect) |
MAPP |
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| (NM_000363.4) | (Disease-causing) | (missense effect) |
MutationTaster |
|||||||
| (NM_000059.3) | (Benign) | (missense effect) |
SIFT |
|||||||
| (NM_000059.3) | (Possibly damaging) | (missense effect) |
Polyphen |
|||||||
| (NM_000059.3) | (Benign) | (missense effect) |
FATHMM |
|||||||
| (NM_000059.3) | (Benign) | (missense effect) |
LRT |
|||||||
| (NM_000059.3) | (Benign) | (missense effect) |
MetaSVM |
|||||||
| (NM_000059.3) | (Benign) | (missense effect) |
Mutation assessor |
|||||||
| (NM_000059.3) | (Benign) | (missense effect) |
Mutation taster |
|||||||
| (NM_000059.3) | (Benign) | (missense effect) |
Provean |
|||||||
| (NM_000059.3) | (Deleterious) | (missense effect) |
Condel |
|||||||
| (NM_138691.2) | (No impact) | (splicing prediction) | ||||||||
| (NM_002880.3) | (No impact) | (splicing prediction) | ||||||||
| (Probably damaging) | (missense effect) |
Polyphen-2 HumDiv |