@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_head { this: np:hasAssertion dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_assertion; np:hasProvenance dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_provenance; np:hasPublicationInfo dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_publicationInfo; a np:Nanopublication . dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_assertion a np:Assertion . dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_provenance a np:Provenance . dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_publicationInfo a np:PublicationInfo . } dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_assertion { miriam-gene:9322 a ncit:C16612 . lld:C0006826 a ncit:C7057 . dgn-gda:DGN7b7d9d6d3426a003b562deb409a0d990 sio:SIO_000628 miriam-gene:9322, lld:C0006826; a sio:SIO_001121 . } dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_provenance { dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_assertion dcterms:description "[Differential splicing of 5 exons generates at least 14 CD46 mRNA variants whose expression is stringently regulated by allelic, tissue-specific and malignancy-related factors, as: (a) leukemic cells and Epstein-Barr virus-transformed B cells preferentially incorporate the first of three STP exons (exon 7) into mRNA, and produce a larger CD46 isoform of 74 kDa, (b) an allelic difference in the proportion of 66- and 56-kDa CD46 isoforms on lymphocytes corresponds to the preferential inclusion or exclusion of the second STP exon (exon 8), (c) the third STP exon (exon 9) is specifically deleted in some placentae, (d) spermatozoa delete both exons 12 and 13, encoding a shorter transmembrane region and a unique cytoplasmic tail and (e) all tissues tested differentially splice exon 13, resulting in two alternative cytoplasmic tails.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:1601037; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP493748.RAVgvXzOecFZAmgtBBzVdqcS1bDGD0be5Guorx3QNctVk130_publicationInfo { this: dcterms:created "2014-10-02T12:36:55+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }