9

Select all human UniProtKB entries with a sequence variant that leads to a 'loss of function'

Use at

• https://sparql.uniprot.org/sparql/

PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#>
PREFIX taxon: <http://purl.uniprot.org/taxonomy/>
PREFIX up: <http://purl.uniprot.org/core/>

SELECT ?protein ?text
WHERE
{ 
        ?protein a up:Protein .
        ?protein up:organism taxon:9606 . 
        ?protein up:annotation ?annotation .
        ?annotation a up:Natural_Variant_Annotation . 
        ?annotation rdfs:comment ?text .
        FILTER (CONTAINS(?text, 'loss of function'))
}

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v3("?annotation")
  v2("?protein"):::projected 
  v1("?text"):::projected 
  c7(["up:Natural_Variant_Annotation"]):::iri 
  c3(["up:Protein"]):::iri 
  c5(["taxon:9606"]):::iri 
  f0[["contains(?text,'loss of function')"]]
  f0 --> v1
  v2 --"a"-->  c3
  v2 --"up:organism"-->  c5
  v2 --"up:annotation"-->  v3
  v3 --"a"-->  c7
  v3 --"rdfs:comment"-->  v1