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NN failures: JAK genes #821

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cbizon opened this issue Jul 2, 2024 · 4 comments
Open

NN failures: JAK genes #821

cbizon opened this issue Jul 2, 2024 · 4 comments

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@cbizon
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cbizon commented Jul 2, 2024

Query: What genes are downed by Ruxolitinib?

PK: ab417e9e-cac8-45c8-a114-4f4d4514c038

We get results for JAK1, JAK2, and JAK3, but also at least "Janus Kinase 1" and "Janus Kinase 2".

It looks like the UMLS identifiers (e.g. UMLS:C0169661) are not merging with the other gene/protein ids.

@gaurav
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gaurav commented Jul 26, 2024

I've confirmed that UMLS:C0169661 "Janus kinase 2" is being included by the protein module, not the leftover UMLS module. It really should be combined with UniProtKB:A8K910 "A8K910_HUMAN Tyrosine-protein kinase (trembl)" and UniProtKB:O60674 "JAK2_HUMAN Tyrosine-protein kinase JAK2 (sprot)" (which is not currently the case: https://nodenorm.ci.transltr.io/1.5/get_normalized_nodes?curie=NCBIGene%3A3717&curie=UMLS%3AC0169661&conflate=true&drug_chemical_conflate=false&description=false). I think this is another case of proteins and chemicals not being properly combined (TranslatorSRI/Babel#310), so diagnosing and fixing that issue should fix this as well. Assigning to Guppy.

@gaurav gaurav added the Guppy (Sprint 5) - due Aug 23 in CI This ticket will be fixed in CI by the end of Guppy (Sprint 5) (Aug 23) label Jul 26, 2024
@gaurav
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gaurav commented Jul 26, 2024

FWIW we do combine UMLS:C1527617 "JAK2 protein, human" with the other protein identifiers, but not UMLS:C0169661 "Janus kinase 2", which we have both as its own clique as a protein as well as in a ChemicalEntity clique with MESH:D053614 "Janus Kinase 2". So even once we close TranslatorSRI/Babel#310, there will be a bit left over as to why MESH:D053614 isn't being merged with the other JAX2 proteins.

@gaurav
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gaurav commented Aug 25, 2024

Pushing the chemical/protein issue to Hammerhead.

@gaurav gaurav added Hammerhead (Sprint 6) - due Oct 4 in CI This ticket will be fixed in CI by the end of Hammerhead (Sprint 6) (Oct 4) and removed Guppy (Sprint 5) - due Aug 23 in CI This ticket will be fixed in CI by the end of Guppy (Sprint 5) (Aug 23) labels Aug 25, 2024
@sstemann
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sstemann commented Nov 8, 2024

@gaurav gaurav added Next Phase and removed Hammerhead (Sprint 6) - due Oct 4 in CI This ticket will be fixed in CI by the end of Hammerhead (Sprint 6) (Oct 4) labels Dec 3, 2024
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