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defective AMER1 gene [nucleoplasm]
Stable Identifier
R-HSA-5251547
Type
DNA Sequence [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
deletion of entire AMER1 gene
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
Signaling by WNT in cancer (Homo sapiens)
Signaling by AMER1 mutants (Homo sapiens)
Deletions in the AMER1 gene destabilize the destruction complex (Homo sapiens)
Deletions of the AMER1 gene prevent expression of AMER1 protein (Homo sapiens)
defective AMER1 gene [nucleoplasm] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
18311776
Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors
Huff, V
,
Ruteshouser, EC
,
Robinson, SM
Genes Chromosomes Cancer
2008
External Reference Information
External Reference
ENSEMBL:ENSG00000184675 AMER1
Gene Names
AMER1, FAM123B, WTX
Participates
as an input of
Deletions of the AMER1 gene prevent expression of AMER1 protein (Homo sapiens)
Other forms of this molecule
AMER1 gene [nucleoplasm]
Modified Residues
Name
Deletion of residues 63404997 to 63425624
Disease
Name
Identifier
Synonyms
nephroblastoma
DOID:2154
adult renal Wilms' tumor, adult nephroblastoma, childhood renal Wilms' cancer, renal Wilms tumor
Cross References
COSMIC
COSM27039
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