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separate ABL1 gene/protein from BCR/ABL translocation #1

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andrewsu opened this issue May 28, 2020 · 1 comment
Open

separate ABL1 gene/protein from BCR/ABL translocation #1

andrewsu opened this issue May 28, 2020 · 1 comment

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@andrewsu
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In the imatinib - CML (ph+) path, BCR/ABL is referenced as the intermediate node in L20, with the edges imatinib INHIBITS BCR/ABL, and BCR/ABL CAUSES CML (ph+). I think this is suboptimal for two reasons.

  • BCR/ABL references https://www.uniprot.org/uniprot/P00519, which only describes the ABL1 protein.
  • I think it would be slightly more precise to say something like imatinib INHIBITS ABL1 HAS_VARIANT BCR/ABL CAUSES CML (ph+). But having said that, I'm not sure there are any standard identifiers for referencing translocations and/or fusion proteins.
@mmayers12
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mmayers12 commented May 28, 2020

The HAS_VARIANT representation seems a bit more specific and appropriate, but I agree, I also don't know good identifiers for translocation and fusion proteins. I did come across a poorly annotated, unreviewed Uniprot entry for the fusion protein, A1Z199. I don't think is the best option, but at least there's an identifier for it....

On a related note, after reviewing this entry I noticed Drugbank actually has BRC as the pharmacological target of imantinib. ABL is also listed as a target, but pharmacologic action is listed as "Unknown."

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