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Schema
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Entries
Deletions of the AMER1 gene prevent expression of AMER1 protein
Show undefined attributes
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authored
[InstanceEdit:5246706] Rothfels, K, 2014年01月22日
category
transition
compartment
[Compartment:7660] nucleoplasm
created
[InstanceEdit:5251560] Rothfels, K, 2014年02月04日
crossReference
[DatabaseIdentifier:11944980] Mondo:0002367
[DatabaseIdentifier:11944981] Mondo:0019004
dbId
5251559
disease
[Disease:4839624] nephroblastoma
[Disease:1655484] kidney cancer
displayName
Deletions of the AMER1 gene prevent expression of AMER1 protein
edited
[InstanceEdit:5358774] Matthews, Lisa, 2014年04月03日
entityFunctionalStatus
[EntityFunctionalStatus:5251549] decreased_transcript_level of defective AMER1 gene [nucleoplasm]
eventOf
[Pathway:R-HSA-5467343] Deletions in the AMER1 gene destabilize the destruction complex - Homo sapiens
input
[EntityWithAccessionedSequence:R-HSA-5251547] defective AMER1 gene [nucleoplasm]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:5251458] Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors
[LiteratureReference:5251473] An X chromosome gene, WTX, is commonly inactivated in Wilms tumor
[LiteratureReference:2130275] Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling
[LiteratureReference:5251459] Wilms' tumours: about tumour suppressor genes, an oncogene and a chameleon gene
[LiteratureReference:5251462] WTX inactivation is a frequent, but late event in Wilms tumors without apparent clinical impact
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日
name
Deletions of the AMER1 gene prevent expression of AMER1 protein
normalReaction
[BlackBoxEvent:R-HSA-5251557] Expression of AMER1 gene
releaseDate
2014年06月10日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5433076] Salahshor, S, 2014年05月12日
[InstanceEdit:5545509] Woodgett, Jim, 2014年05月21日
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-5251559
summation
[Summation:5251525] Genomic deletions of the entire AMER1/WTX gene occur in abou...
Referrals
(hasEvent)
[Pathway:R-HSA-5467343] Deletions in the AMER1 gene destabilize the destruction complex
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