neXtProt/NXQ_00256

Variants identified in exome datasets in a frequent homozygote state

Use at

• https://sparql.nextprot.org/sparql

PREFIX : <http://nextprot.org/rdf/>

SELECT DISTINCT ?entry ?varpos where
{
 ?entry :isoform ?iso .
 ?iso :swissprotDisplayed true .
 ?iso :variant ?var .
 ?var :start ?varpos .
 ?var :evidence ?ev .
 ?var :evidence / :homozygoteCount ?hcnt .
 filter(?hcnt > 100000)
 }
 order by desc(?hcnt)

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v2("?entry"):::projected 
  v6("?ev")
  v1("?hcnt")
  v3("?iso")
  v4("?var")
  v5("?varpos"):::projected 
  a1((" "))
  c4(["true^^xsd:boolean"]):::literal 
  f0[["?hcnt > '100000^^xsd:integer'"]]
  f0 --> v1
  v2 --":isoform"-->  v3
  v3 --":swissprotDisplayed"-->  c4
  v3 --":variant"-->  v4
  v4 --":start"-->  v5
  v4 --":evidence"-->  v6
  v4 --":evidence"-->  a1
  a1 --":homozygoteCount"-->  v1