Query_156

rq turtle/ttl

• mutation
• sequence variation
• zygozity

Some cell lines with an hemizygous mutation

Use at

• https://sparql.cellosaurus.org/sparql

PREFIX cello: <https://purl.expasy.org/cellosaurus/rdf/ontology/>
PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#>
select ?cl ?cl_name ?status ?seqvar_class ?seqvar_label ?zygozity ?gene_ac ?gene_name  where {
  # possible values for zygozity are Hemizygous Hemizygous or homozygous Heteroplasmic
  # Heterozygous Heterozygous or homozygous Homoplasmic Homozygous Mosaic Unspecified
  values ( ?zygozity ) { ( "Hemizygous") }
  ?cl cello:recommendedName ?cl_name_xsd .
  ?cl cello:hasSequenceVariationInfo ?annot .
  ?annot cello:variationStatus ?status_xsd .
  ?annot cello:hasTarget ?seqvar .
  ?seqvar cello:zygosity ?zygozity .
  ?seqvar a ?seqvar_class .
  ?seqvar rdfs:label ?seqvar_label_xsd .
  ?seqvar cello:ofGene ?gene .
  ?gene cello:isIdentifiedByXref ?xref .
  ?xref cello:accession ?gene_ac_xsd .
  ?xref rdfs:label ?gene_name_xsd .
  bind(str(?cl_name_xsd) as ?cl_name)
  bind(str(?status_xsd) as ?status)
  bind(str(?seqvar_label_xsd) as ?seqvar_label)
  bind(str(?gene_ac_xsd) as ?gene_ac)
  bind(str(?gene_name_xsd) as ?gene_name)
}
order by ?cl_name
limit 1000
    

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v5("?annot")
  v3("?cl"):::projected 
  v14("?cl_name"):::projected 
  v4("?cl_name_xsd")
  v10("?gene")
  v16("?gene_ac"):::projected 
  v12("?gene_ac_xsd")
  v17("?gene_name"):::projected 
  v13("?gene_name_xsd")
  v7("?seqvar")
  v8("?seqvar_class"):::projected 
  v15("?seqvar_label"):::projected 
  v9("?seqvar_label_xsd")
  v14("?status"):::projected 
  v6("?status_xsd")
  v11("?xref")
  v2("?zygozity"):::projected 
  bind0[/VALUES ?zygozity/]
  bind0-->v2
  bind00(["Hemizygous"])
  bind00 --> bind0
  v3 --"cello:recommendedName"-->  v4
  v3 --"cello:hasSequenceVariationInfo"-->  v5
  v5 --"cello:variationStatus"-->  v6
  v5 --"cello:hasTarget"-->  v7
  v7 --"cello:zygosity"-->  v2
  v7 --"a"-->  v8
  v7 --"rdfs:label"-->  v9
  v7 --"cello:ofGene"-->  v10
  v10 --"cello:isIdentifiedByXref"-->  v11
  v11 --"cello:accession"-->  v12
  v11 --"rdfs:label"-->  v13
  bind1[/"str(?cl_name_xsd)"/]
  v4 --o bind1
  bind1 --as--o v14
  bind2[/"str(?status_xsd)"/]
  v6 --o bind2
  bind2 --as--o v14
  bind3[/"str(?seqvar_label_xsd)"/]
  v9 --o bind3
  bind3 --as--o v15
  bind4[/"str(?gene_ac_xsd)"/]
  v12 --o bind4
  bind4 --as--o v16
  bind5[/"str(?gene_name_xsd)"/]
  v13 --o bind5
  bind5 --as--o v17