Reactome | Aberrant alternative splicing generates a soluble disease variant FGFR2 IIIa TM

Schema > BlackBoxEvent > Entries

authored	[InstanceEdit:8851707] Rothfels, Karen, 2016-01-08
category	omitted
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:8851707] Rothfels, Karen, 2016-01-08
crossReference	[DatabaseIdentifier:12020831] Mondo:0019796
dbId	8851711
disease	[Disease:2011822] acrocephalosyndactylia
displayName	Aberrant alternative splicing generates a soluble disease variant FGFR2 IIIa TM
edited	[InstanceEdit:8851707] Rothfels, Karen, 2016-01-08
input	[EntityWithAccessionedSequence:R-MMU-8851699] FGFR2 gene [nucleoplasm]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:8851693] Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Aberrant alternative splicing generates a soluble disease variant FGFR2 IIIa TM
orthologousEvent	[BlackBoxEvent:R-HSA-8851710] Aberrant alternative splicing yields a secreted FGFR2 IIIa TM disease variant - Homo sapiens
output	[EntityWithAccessionedSequence:R-MMU-8851701] FGFR2 IIIa TM [extracellular region]
releaseDate	2016-03-23
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:8853855] Grose, Richard P, 2016-01-25
schemaClass	BlackBoxEvent
species	[Species:48892] Mus musculus
stId	R-MMU-8851711
summation	[Summation:8851706] A secreted truncated form of FGFR2 known as IIIa TM is produ...

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