WDR48

Summary: The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameWD repeat domain 48
OMIM IDMIM:612167
Ensembl IDEnsembl:ENSG00000114742
HGNC IDHGNC:HGNC:30914
PHARMGKB IDPA134956949
Map Location3p22.2

Gene Categories:

PROTEASEDNA REPAIR

GO terms in WDR48


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IDA GO:0005634 nucleus
CC TAS GO:0005654 nucleoplasm
CC IEA GO:0005764 lysosome
CC IEA GO:0005770 late endosome
CC IDA GO:0043231 intracellular membrane-bounded organelle
BP IEA GO:0000724 double-strand break repair via homologous recombination
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Gene expression in normal tissue: WDR48

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 1

Gene-drug pathway distribution

RTK signaling1

Pathways in WDR48


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Database
Pathway ID
Pathway Des.
pid fanconi_pathway Fanconi anemia pathway
kegg hsa03460 Fanconi anemia pathway - Homo sapiens (human)
reactome R-HSA-110314 Recognition of DNA damage by PCNA-containing replication complex
reactome R-HSA-392499 Metabolism of proteins
reactome R-HSA-5688426 Deubiquitination
reactome R-HSA-5689880 Ub-specific processing proteases
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD748 PHA-665752 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in WDR48

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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