Query_162

rq turtle/ttl

• sequence variation
• stats

Count of sequence variation annotations by sequence variation type and other characteristics

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 ?sv_name ?with_none_reported ?with_hgvs ?with_comment ?gene_cnt (count(*) as ?cases_cnt) {
select ?sv ?sv_name ?nr ?with_none_reported ?hgvs ?with_hgvs ?comment ?with_comment (count(?gene) as ?gene_cnt) where {
	?sv_type rdfs:subClassOf* cello:SequenceVariation .
    ?sv_type rdfs:label ?sv_name .
    ?sv a ?sv_type .
    ?sv cello:ofGene ?gene .
    optional { ?sv cello:hgvs ?hgvs . }
    optional { ?sv cello:noneReported ?nr . }
    optional { ?sv rdfs:comment ?comment . }
  	bind (if(bound(?hgvs), "Yes", "No") as ?with_hgvs)
  	bind (if(?nr = 1, "Yes", "No") as ?with_none_reported)
  	bind (if(bound(?comment), "Yes", "No") as ?with_comment)
}
group by ?sv ?sv_name ?nr ?with_none_reported ?hgvs ?with_hgvs ?comment ?with_comment
}
group by ?sv_name ?with_none_reported ?with_hgvs ?with_comment ?gene_cnt
order by ?sv_name ?with_none_reported
    

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v12("?cases_cnt")
  v8("?comment")
  v5("?gene")
  v11("?gene_cnt"):::projected 
  v6("?hgvs")
  v7("?nr")
  v4("?sv")
  v1("?sv_name"):::projected 
  v3("?sv_type")
  v10("?with_comment"):::projected 
  v9("?with_hgvs"):::projected 
  v10("?with_none_reported"):::projected 
  c2(["cello:SequenceVariation"]):::iri 
  v3 --"rdfs:subClassOf"-->  c2
  v3 --"rdfs:label"-->  v1
  v4 --"a"-->  v3
  v4 --"cello:ofGene"-->  v5
  subgraph optional0["(optional)"]
  style optional0 fill:#bbf,stroke-dasharray: 5 5;
    v4 -."cello:hgvs".->  v6
  end
  subgraph optional1["(optional)"]
  style optional1 fill:#bbf,stroke-dasharray: 5 5;
    v4 -."cello:noneReported".->  v7
  end
  subgraph optional2["(optional)"]
  style optional2 fill:#bbf,stroke-dasharray: 5 5;
    v4 -."rdfs:comment".->  v8
  end
  bind0[/"if(bound(?hgvs),'Yes','No')"/]
  v6 --o bind0
  bind0 --as--o v9
  bind1[/"if(?nr = '1^^xsd:integer','Yes','No')"/]
  v7 --o bind1
  bind1 --as--o v10
  bind2[/"if(bound(?comment),'Yes','No')"/]
  v8 --o bind2
  bind2 --as--o v10
  bind4[/"count(?gene)"/]
  v5 --o bind4
  bind4 --as--o v11
  bind6[/"count(*)"/]
  bind6 --as--o v12