Reactome | defective AMER1 gene [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
consumedByEvent	[FailedReaction:R-HSA-5251559] Deletions of the AMER1 gene prevent expression of AMER1 protein - Homo sapiens
created	[InstanceEdit:5251546] Rothfels, K, 2014-02-04
crossReference	[DatabaseIdentifier:12020838] Mondo:0019004 [DatabaseIdentifier:5251420] COSMIC:COSM27039
dbId	5251547
disease	[Disease:4839624] nephroblastoma
displayName	defective AMER1 gene [nucleoplasm]
endCoordinate	-1
hasModifiedResidue	[FragmentDeletionModification:5251550] Deletion of residues 63404997 to 63425624
inDisease	true
literatureReference	[LiteratureReference:5251458] Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors
maxDepth	1
modified	[InstanceEdit:9666637] Rothfels, Karen, 2019-11-05
name	defective AMER1 gene deletion of entire AMER1 gene
referenceEntity	[ReferenceDNASequence:ensembl:ENSG00000184675] ENSEMBL:ENSG00000184675 AMER1
referenceType	ReferenceDNASequence
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5251547
startCoordinate	1
updateTrackers	[UpdateTracker:9900951] Update Tracker - [EntityWithAccessionedSequence:5251547] defective AMER1 gene [nucleoplasm] - v71:[modifyEndCoordinate, modifyStartCoordinate]

(updatedInstance)	[UpdateTracker:9900951] Update Tracker - [EntityWithAccessionedSequence:5251547] defective AMER1 gene [nucleoplasm] - v71:[modifyEndCoordinate, modifyStartCoordinate]
(input)	[FailedReaction:R-HSA-5251559] Deletions of the AMER1 gene prevent expression of AMER1 protein
(diseaseEntity)	[EntityFunctionalStatus:5251549] decreased_transcript_level of defective AMER1 gene [nucleoplasm]

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