UniProt: diseasess related to mutations in the active site of enzymes

uniprot/diseases_related_to_mutation_in_active_site.ttl

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+prefix ex: <https://sparql.uniprot.org/.well-known/sparql-examples/>
+prefix up: <http://purl.uniprot.org/core/>
+prefix sh: <http://www.w3.org/ns/shacl#>
+prefix schema:<https://schema.org/>
+prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> 
+prefix faldo:<http://biohackathon.org/resource/faldo#>
+prefix rdfs:<http://www.w3.org/2000/01/rdf-schema#>
+
+ex:diseases_related_to_mutation_in_active_site
+    a sh:SPARQLSelectExecutable, sh:SPARQLExecutable ;
+    sh:prefixes _:sparql_examples_prefixes ;
+    schema:target <https://sparql.uniprot.org/sparql/> ;
+    schema:keyword "enzyme" ;
+    rdfs:comment """Find (Human Genetic) diseases, that are related to a natural variant on the active site of an enzyme.""" ;
+    sh:select """SELECT 
+  DISTINCT
+   ?disease 
+WHERE {
+  ?protein a up:Protein ;
+    up:organism taxon:9606 ;
+    up:annotation ?disease_annotation, ?active_site_annotation, ?natural_variant_annotation .
+  {
+    ?protein up:enzyme [] .
+  } UNION {
+  ?protein up:annotation/a up:Catalytic_Activity_Annotation .
+  }
+  ?disease_annotation a up:Disease_Annotation ;
+  up:disease ?disease .
+  ?active_site_annotation a up:Active_Site_Annotation ;
+  up:range ?active_site_range .
+  ?active_site_range faldo:begin ?active_site_begin .
+  ?active_site_begin faldo:position ?active_site_position ;
+                     faldo:reference ?sequence .
+  ?natural_variant_annotation a up:Natural_Variant_Annotation ;
+  up:range ?natural_variant_range ;
+  skos:related ?disease .
+  ?natural_variant_range faldo:begin ?natural_variant_begin ;
+                         faldo:end ?natural_variant_end .
+  ?natural_variant_begin faldo:position ?natural_variant_begin_position .
+  ?natural_variant_end faldo:position ?natural_variant_end_position ;
+                       faldo:reference ?sequence .
+  
+  FILTER(?natural_variant_begin_position >= ?active_site_position && ?active_site_position <= ?natural_variant_end_position) 
+}""" .