InSilicoPredictionStatement

A statement asserting the predicted impact of a particular allele on the function of its resulting gene product (e.g. that it is 'deleterious', 'damaging', 'tolerated', etc.). Such assertions are typically based on interpretation of the quantitative output of predictive computational algorithms.

SEPIO:0000249
Descended from Statement

Scope and Usage

Attributes

Name Type Cardinality Description IRI Defined in
canonicalAllele CanonicalAllele 1..1 The contextual 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
predictionType @id 1..1 The type of prediction being made SEPIO:0000255 InSilicoPredictionStatement
statementOutcome @id 1..1 The value of the prediction SEPIO:0000197 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 predictionType statementOutcome algorithm

CGEX:InSilicoPred068

Provenance would show that this comes from Alamut

CAR:CA013536

REFSEQ:NM_000257.2

(NM_000257.2)

SEPIO:0000323

(splicing prediction)

CGEX:PredOutcome008

(No impact)

CGEX:InSilicoPred262

Provenance would show that this comes from Alamut

CAR:CA013536

REFSEQ:NM_000257.2

(NM_000257.2)

SEPIO:0000323

(splicing prediction)

CGEX:PredOutcome008

(No impact)

CGEX:InSilicoPred120

CAR:CA090928

REFSEQ:NM_005228.3

(NM_005228.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome003

(Damaging)

SIFT

CGEX:InSilicoPred121

CAR:CA090928

REFSEQ:NM_005228.3

(NM_005228.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome010

(Probably damaging)

Polyphen

CGEX:InSilicoPred122

CAR:CA090928

REFSEQ:NM_005228.3

(NM_005228.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome011

(Tolerated)

FATHMM

CGEX:InSilicoPred123

CAR:CA090928

REFSEQ:NM_005228.3

(NM_005228.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome003

(Damaging)

LRT

CGEX:InSilicoPred124

CAR:CA090928

REFSEQ:NM_005228.3

(NM_005228.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome011

(Tolerated)

MetaSVM

CGEX:InSilicoPred125

CAR:CA090928

REFSEQ:NM_005228.3

(NM_005228.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome011

(Tolerated)

Mutation assessor

CGEX:InSilicoPred126

CAR:CA090928

REFSEQ:NM_005228.3

(NM_005228.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome005

(Disease-causing)

Mutation taster

CGEX:InSilicoPred127

CAR:CA090928

REFSEQ:NM_005228.3

(NM_005228.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome003

(Damaging)

Provean

CGEX:InSilicoPred128

CAR:CA090928

REFSEQ:NM_005228.3

(NM_005228.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome004

(Deleterious)

Condel

CGEX:InSilicoPred129

CAR:CA090884

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome004

(Deleterious)

SIFT

CGEX:InSilicoPred130

CAR:CA090884

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome010

(Probably damaging)

Polyphen

CGEX:InSilicoPred131

CAR:CA090884

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome003

(Damaging)

FATHMM

CGEX:InSilicoPred132

CAR:CA090884

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome003

(Damaging)

LRT

CGEX:InSilicoPred133

CAR:CA090884

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome011

(Tolerated)

MetaSVM

CGEX:InSilicoPred134

CAR:CA090884

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome007

(Medium functional impact)

Mutation assessor

CGEX:InSilicoPred135

CAR:CA090884

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome005

(Disease-causing)

Mutation taster

CGEX:InSilicoPred136

CAR:CA090884

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome003

(Damaging)

Provean

CGEX:InSilicoPred137

CAR:CA090884

ENSEMBL:ENST00000566221.5

(ENST00000566221.5)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome004

(Deleterious)

Condel

CGEX:InSilicoPred138

CAR:CA022019

REFSEQ:NM_000363.4

(NM_000363.4)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome011

(Tolerated)

SIFT

CGEX:InSilicoPred139

CAR:CA022019

REFSEQ:NM_000363.4

(NM_000363.4)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome001

(Benign)

Polyphen2

CGEX:InSilicoPred140

CAR:CA022019

REFSEQ:NM_000363.4

(NM_000363.4)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome002

(C0 (benign))

AlignGVGD

CGEX:InSilicoPred141

CAR:CA022019

REFSEQ:NM_000363.4

(NM_000363.4)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome005

(Disease-causing)

MAPP

CGEX:InSilicoPred142

CAR:CA022019

REFSEQ:NM_000363.4

(NM_000363.4)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome005

(Disease-causing)

MutationTaster

CGEX:InSilicoPred232

CAR:CA020822

REFSEQ:NM_000059.3

(NM_000059.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome001

(Benign)

SIFT

CGEX:InSilicoPred233

CAR:CA020822

REFSEQ:NM_000059.3

(NM_000059.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome009

(Possibly damaging)

Polyphen

CGEX:InSilicoPred234

CAR:CA020822

REFSEQ:NM_000059.3

(NM_000059.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome001

(Benign)

FATHMM

CGEX:InSilicoPred235

CAR:CA020822

REFSEQ:NM_000059.3

(NM_000059.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome001

(Benign)

LRT

CGEX:InSilicoPred236

CAR:CA020822

REFSEQ:NM_000059.3

(NM_000059.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome001

(Benign)

MetaSVM

CGEX:InSilicoPred237

CAR:CA020822

REFSEQ:NM_000059.3

(NM_000059.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome001

(Benign)

Mutation assessor

CGEX:InSilicoPred238

CAR:CA020822

REFSEQ:NM_000059.3

(NM_000059.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome001

(Benign)

Mutation taster

CGEX:InSilicoPred239

CAR:CA020822

REFSEQ:NM_000059.3

(NM_000059.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome001

(Benign)

Provean

CGEX:InSilicoPred240

CAR:CA020822

REFSEQ:NM_000059.3

(NM_000059.3)

SEPIO:0000322

(missense effect)

CGEX:PredOutcome004

(Deleterious)

Condel

CGEX:InSilicoPred258

CAR:CA501232

REFSEQ:NM_138691.2

(NM_138691.2)

SEPIO:0000323

(splicing prediction)

CGEX:PredOutcome008

(No impact)

CGEX:InSilicoPred266

CAR:CA177682

REFSEQ:NM_002880.3

(NM_002880.3)

SEPIO:0000323

(splicing prediction)

CGEX:PredOutcome008

(No impact)

CGEX:InSilicoPred362

CGEX:CtxAll111

SEPIO:0000322

(missense effect)

CGEX:PredOutcome010

(Probably damaging)

Polyphen-2 HumDiv