Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

defective AMER1 gene [nucleoplasm] Show undefined attributes

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年02月04日

crossReference

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年11月05日

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]

Referrals

(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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