neXtProt/NXQ_00149

BRCA1 variants with at least 5 different Severe phenotypes

Use at

• https://sparql.nextprot.org/sparql

PREFIX : <http://nextprot.org/rdf/>
PREFIX nextprot: <http://nextprot.org/rdf/entry/>
PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#>

SELECT
?pfname
(count(?pvlabel) as ?severe_count)
(group_concat(?pvlabel;separator=", and ") as ?severe_list)
WHERE {
 nextprot:NX_P38398 :isoform / :proteoform ?pf .
 ?pf rdfs:label ?pfname .
 ?pf :phenotypicVariation ?pv1 .
 ?pv1 rdfs:comment ?pvlabel .
 ?pv1 :evidence / :severity :Severe .
 }
group by ?pfname having (count(?pvlabel)>=5)
order by desc(count(?pvlabel)) ?pfname

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v5("?_anon_aaf95e3c346c4c97af230d5bcfeba8ab3634")
  v6("?_anon_aaf95e3c346c4c97af230d5bcfeba8ab3635")
  v2("?pf")
  v1("?pfname"):::projected 
  v3("?pv1")
  v4("?pvlabel"):::projected 
  v7("?severe_count")
  v8("?severe_list")
  a3((" "))
  a4((" "))
  a2((" "))
  a1((" "))
  c2([":entry/NX_P38398"]):::iri 
  c10([":Severe"]):::iri 
  f0[[" >= '5^^xsd:integer'"]]
  f0 --> a2
  c2 --":isoform"-->  a3
  a3 --":proteoform"-->  v2
  v2 --"rdfs:label"-->  v1
  v2 --":phenotypicVariation"-->  v3
  v3 --"rdfs:comment"-->  v4
  v3 --":evidence"-->  a4
  a4 --":severity"-->  c10
  bind5[/"count(?pvlabel)"/]
  v4 --o bind5
  bind5 --as--o v5
  bind6[/"count(?pvlabel)"/]
  v4 --o bind6
  bind6 --as--o v6
  bind7[/"count(?pvlabel)"/]
  v4 --o bind7
  bind7 --as--o v7
  bind8[/"?pvlabel"/]
  v4 --o bind8
  bind8 --as--o v8