neXtProt/NXQ_00295

References for SCN1A variants causing Dravet syndrome

Use at

• https://sparql.nextprot.org/sparql

PREFIX : <http://nextprot.org/rdf/>
PREFIX db: <http://nextprot.org/rdf/db/>
PREFIX nextprot: <http://nextprot.org/rdf/entry/>
PREFIX nextprot_cv: <http://nextprot.org/rdf/terminology/>

SELECT DISTINCT (str(?publiid) as ?PMID) ?title WHERE {
 nextprot:NX_P35498 :isoform ?iso. #SCN1A entry
 ?iso :swissprotDisplayed true. #Swissprot canonical isoform
 {
 ?iso :variant ?v.
 ?v :disease nextprot_cv:DI-01023. #UniProtKB term for Dravet syndrome
 ?v :evidence /:reference ?pub.
 ?pub :title ?title.
 ?pub :from ?xref .
 ?xref :accession ?publiid ; :provenance db:PubMed .
 }
 union
 {
 ?iso :proteoform ?pf.
 ?pf :diseaseRelatedVariant ?ann.
 filter not exists {?ann :negativeEvidence ?negev} # No negative disease evidence
 ?ann :impactedObject /:term nextprot_cv:C116573. #NCI Thesaurus term for Dravet syndrome
 ?ann :evidence /:reference ?pub.
 ?pub :title ?title.
 ?pub :from ?xref .
 ?xref :accession ?publiid ; :provenance db:PubMed .
 }
}

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v10("?PMID")
  v7("?ann")
  v1("?iso")
  v8("?negev")
  v9("?pf")
  v3("?pub")
  v6("?publiid"):::projected 
  v4("?title"):::projected 
  v2("?v")
  v5("?xref")
  a1((" "))
  a2((" "))
  a3((" "))
  c20([":terminology/C116573"]):::iri 
  c7([":terminology/DI-01023"]):::iri 
  c1([":entry/NX_P35498"]):::iri 
  c4(["true^^xsd:boolean"]):::literal 
  c14([":db/PubMed"]):::iri 
  c1 --":isoform"-->  v1
  v1 --":swissprotDisplayed"-->  c4
  subgraph union0[" Union "]
  subgraph union0l[" "]
    style union0l fill:#abf,stroke-dasharray: 3 3;
    f0[["not  "]]
    subgraph f0e0["Exists Clause"]
      e0v1 --":negativeEvidence"-->  e0v2
      e0v1("?ann"):::projected 
      e0v2("?negev"):::projected 
    end
    f0--EXISTS--> f0e0
    f0 --> v7
    f0 --> c15
    f0 --> v8
    v7 --":negativeEvidence"-->  v8
    v1 --":proteoform"-->  v9
    v9 --":diseaseRelatedVariant"-->  v7
    v7 --":impactedObject"-->  a2
    a2 --":term"-->  c20
    v7 --":evidence"-->  a3
    a3 --":reference"-->  v3
    v3 --":title"-->  v4
    v3 --":from"-->  v5
    v5 --":accession"-->  v6
    v5 --":provenance"-->  c14
  end
  subgraph union0r[" "]
    style union0r fill:#abf,stroke-dasharray: 3 3;
    v1 --":variant"-->  v2
    v2 --":disease"-->  c7
    v2 --":evidence"-->  a1
    a1 --":reference"-->  v3
    v3 --":title"-->  v4
    v3 --":from"-->  v5
    v5 --":accession"-->  v6
    v5 --":provenance"-->  c14
  end
  union0r <== or ==> union0l
  end
  bind1[/"str(?publiid)"/]
  v6 --o bind1
  bind1 --as--o v10