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move down annotation Pfam properties and update pivot files
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ylaizet committed Dec 18, 2018
1 parent e1894c5 commit ca7afe5
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Showing 3 changed files with 12 additions and 17 deletions.
4 changes: 2 additions & 2 deletions data/DataElementConcept.tsv
Original file line number Diff line number Diff line change
Expand Up @@ -109,11 +109,11 @@ Variant DNASequenceVariationType Variant_DNASequenceVariationType DNA Sequence V
Annotation ReferenceType Annotation_ReferenceType Reference Type Reference Type OSIRIS:Annotation_ReferenceType String optional O90
Annotation ReferenceDatabase Annotation_ReferenceDatabase Reference Database Reference Database OSIRIS:Annotation_ReferenceDatabase String optional O91
Annotation ReferenceValue Annotation_ReferenceValue Reference Value Reference Value String optional O92
Annotation PfamDomain Annotation_PfamDomain Pfam Domain Pfam Domain String optional Domaines Pfams liés à la position d'altération Pfams domains related to alteration position O58
Annotation PfamId Annotation_PfamId Pfam Id Pfam Id String optional Identifiant des domaines Pfams liés à la position d'altération Identifier of Pfams domains related to alteration position O59
Annotation MutationPredictionAlgorithm Annotation_MutationPredictionAlgorithm Mutation Prediction Algorithm Mutation Prediction Algorithm OSIRIS:MutationPredictionAlgorithm String optional Algorithme pour prédire l'effet de variation sur la protéine Algorithm to predict the variation effect over the protein O63
Annotation MutationPredictionValue Annotation_MutationPredictionValue Mutation Prediction Value Mutation Prediction Value String optional Prédiction de l'effet de variation sur la protéine Prediction of the variation effect over the protein O64
Annotation MutationPredictionScore Annotation_MutationPredictionScore Mutation Prediction Score Mutation Prediction Score Float optional Niveau de confiance de la prédiction de l'effet de variation sur la protéine Level of confidence of the prediction of the variation effect over the protein O65
Annotation PfamDomain Annotation_PfamDomain Pfam Domain Pfam Domain String optional Domaines Pfams liés à la position d'altération Pfams domains related to alteration position O58
Annotation PfamId Annotation_PfamId Pfam Id Pfam Id String optional Identifiant des domaines Pfams liés à la position d'altération Identifier of Pfams domains related to alteration position O59
Annotation DNARegionName Annotation_DNARegionName DNA Region Name DNA Region Name String optional Nom lisible par l'homme de la région d'intérêt liée au transcript (ex: exon1, intron1, UTR3 ') Human readable name for the region of interest related to the transcript (eg: exon1, intron1, UTR3') O66
Annotation DNASequenceVariation Annotation_DNASequenceVariation DNA Sequence Variation DNA Sequence Variation String mandatory Nomenclature HGVS sur le transcript choisi HGVS nomenclature on the chosen transcript O71 c.6964C>T
Annotation AminoAcidChange Annotation_AminoAcidChange Amino Acid Change Amino Acid Change String optional Nomenclature HGVS sur le transcript de protéine choisi HGVS nomenclature on the chosen protein transcript O72 p.Arg2322Cys
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19 changes: 8 additions & 11 deletions pivot/OSIRIS_pivot_Annotation.csv
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@@ -1,11 +1,8 @@
Patient_Id,Instance_Id,Alteration_Ref,AlterationOnSample_AlterationType,Annotation_ReferenceType,Annotation_ReferenceDatabase,Annotation_ReferenceValue,Annotation_Symbol,Annotation_PfamDomain,Annotation_PfamId,Annotation_MutationPredictionAlgorithm,Annotation_MutationPredictionValue,Annotation_MutationPredictionScore,Annotation_DNARegionName,Annotation_DNASequenceVariation,Annotation_AminoAcidChange,Annotation_GenomicSequenceVariation,Annotation_RNASequenceVariation,Annotation_AminoAcidChangeType,Annotation_FusionPrimeEnd,Annotation_Strand
L304,1,1,OSIRIS:O15-4,OSIRIS:O90-1,COSMIC,COSM760,PI3K,"PI3K_rbd; PI3-kinase family, ras-binding domain",pfam00794,SIFT,Deleterious,0.35,exon 2,c.1624G>A,p.E542K,,,LA6698-0,,
,,,,,,,,,,,,,exon 14,,,,,,,
,,,,,,,,,,,,,,,,,,,,
,,,,,,,,,,,,,,,,,,,,
L304,1,1,Genetic variant,genome entity,Entrez,123365,TP53,,,,,,,,,,,,,
L304,2,1,Genetic variant,exonic variant transcript,Refseq,NM_001126115,TP53,,,,,,exon1,c.73G>T,p.V25F,,,,,
L304,3,1,Genetic variant,exonic variant transcript,Refseq,NM_001126116,TP53,,,,,,exon1,c.73G>T,p.V25F,,,,,
L304,4,1,Genetic variant,exonic variant transcript,Refseq,NM_001126112,TP53,,,,,,exon5,c.469G>T,p.V157F,,,,,
L304,5,1,Genetic variant,,,,TP53,,,SIFT,Deleterious,0.35,,,,,,,,
L304,6,1,Genetic variant,,,,TP53,,,Polyphen,Deleterious,0.7,,,,,,,,
Patient_Id,Instance_Id,Alteration_Ref,AlterationOnSample_AlterationType,GenomeEntity_Type,GenomeEntity_Database,GenomeEntity_Id,GenomeEntity_Symbol,Annotation_ReferenceType,Annotation_ReferenceDatabase,Annotation_ReferenceValue,Annotation_MutationPredictionAlgorithm,Annotation_MutationPredictionValue,Annotation_MutationPredictionScore,Annotation_PfamDomain,Annotation_PfamId,Annotation_DNARegionName,Annotation_DNASequenceVariation,Annotation_AminoAcidChange,Annotation_GenomicSequenceVariation,Annotation_RNASequenceVariation,Annotation_AminoAcidChangeType,Annotation_FusionPrimeEnd,Annotation_Strand
L304,1,1,OSIRIS:O15-4,,,,PI3K,OSIRIS:O90-1,COSMIC,COSM760,SIFT,Deleterious,0.35,"PI3K_rbd; PI3-kinase family, ras-binding domain",pfam00794,exon 2,c.1624G>A,p.E542K,,,LA6698-0,,
L304,1,1,Genetic variant,,,,TP53,genome entity,Entrez,123365,,,,,,,,,,,,,
L304,2,1,Genetic variant,,,,TP53,exonic variant transcript,Refseq,NM_001126115,,,,,,exon1,c.73G>T,p.V25F,,,,,
L304,3,1,Genetic variant,,,,TP53,exonic variant transcript,Refseq,NM_001126116,,,,,,exon1,c.73G>T,p.V25F,,,,,
L304,4,1,Genetic variant,,,,TP53,exonic variant transcript,Refseq,NM_001126112,,,,,,exon5,c.469G>T,p.V157F,,,,,
L304,5,1,Genetic variant,,,,TP53,,,,SIFT,Deleterious,0.35,,,,,,,,,,
L304,6,1,Genetic variant,,,,TP53,,,,Polyphen,Deleterious,0.7,,,,,,,,,,
6 changes: 2 additions & 4 deletions pivot/OSIRIS_pivot_Expression.csv
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@@ -1,4 +1,2 @@
Patient_Id,Instance_Id,Analysis_Ref,AlterationOnSample_AlterationType,AlterationOnSample_Pathogenicity,AlterationOnSample_Actionability,AlterationOnSample_ProposedForOrientation,GenomeEntity_Type,GenomeEntity_Database,GenomeEntity_Id,GenomeEntity_Symbol,GeneExpression_DataType,GeneExpression_Value,Validation_Type,Validation_Method,Validation_Status
L304,,,,,,,,,,,,,,,
,,,,,,,,,,,,,,,
Vincent : Patient_Id est Patient_Ref en deuxième colonne,,,,,,,,,,,,,,,
Patient_Id,Instance_Id,Analysis_Ref,AlterationOnSample_AlterationType,AlterationOnSample_Pathogenicity,AlterationOnSample_Actionability,AlterationOnSample_ProposedForOrientation,GeneExpression_DataType,GeneExpression_Value,Validation_Type,Validation_Method,Validation_Status
L304,,,,,,,,,,,

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