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Schema
>
EntityFunctionalStatus
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Entries
gain_of_function of NOTCH1 HD+PEST Domain Mutants/Ub-DLL/JAG:NOTCH1 HD+PEST Domain Mutants [plasma membrane]
Show undefined attributes
created
[InstanceEdit:9630137] Orlic-Milacic, Marija, 2018年11月29日
dbId
9630138
diseaseEntity
[DefinedSet:R-HSA-2902212] NOTCH1 HD+PEST Domain Mutants/Ub-DLL/JAG:NOTCH1 HD+PEST Domain Mutants [plasma membrane]
displayName
gain_of_function of NOTCH1 HD+PEST Domain Mutants/Ub-DLL/JAG:NOTCH1 HD+PEST Domain Mutants [plasma membrane]
functionalStatus
[FunctionalStatus:2775827] gain_of_function via frameshift_truncation
[FunctionalStatus:2775818] gain_of_function via stop_gained
[FunctionalStatus:2362351] gain_of_function via non_conservative_missense_variant
modified
[InstanceEdit:9631717] Wu, G, 2018年12月12日
schemaClass
EntityFunctionalStatus
Referrals
(entityFunctionalStatus)
[Reaction:R-HSA-2220976] NOTCH1 HD+PEST domain mutants are cleaved by ADAM10/17 irrespective of ligand binding
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