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WDR48 (WD repeat domain 48)

Identity

Alias_symbol (synonym)KIAA1449
P80
SPG60
Other aliasUAF1
HGNC (Hugo) WDR48
LocusID (NCBI) 57599
Atlas_Id 53058
Location 3p22.2  [Link to chromosome band 3p22]
Location_base_pair Starts at 39051986 and ends at 39096670 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KLF7 (2q33.3) / WDR48 (3p22.2)MAFB (20q12) / WDR48 (3p22.2)WDR48 (3p22.2) / PDGFRB (5q32)
WDR48 (3p22.2) / WDR48 (3p22.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)WDR48   30914
Cards
Entrez_Gene (NCBI)WDR48  57599  WD repeat domain 48
AliasesP80; SPG60; UAF1
GeneCards (Weizmann)WDR48
Ensembl hg19 (Hinxton)ENSG00000114742 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114742 [Gene_View]  chr3:39051986-39096670 [Contig_View]  WDR48 [Vega]
ICGC DataPortalENSG00000114742
TCGA cBioPortalWDR48
AceView (NCBI)WDR48
Genatlas (Paris)WDR48
WikiGenes57599
SOURCE (Princeton)WDR48
Genetics Home Reference (NIH)WDR48
Genomic and cartography
GoldenPath hg38 (UCSC)WDR48  -     chr3:39051986-39096670 +  3p22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)WDR48  -     3p22.2   [Description]    (hg19-Feb_2009)
EnsemblWDR48 - 3p22.2 [CytoView hg19]  WDR48 - 3p22.2 [CytoView hg38]
Mapping of homologs : NCBIWDR48 [Mapview hg19]  WDR48 [Mapview hg38]
OMIM612167   
Gene and transcription
Genbank (Entrez)AB040882 AF468833 AK025513 AK074278 AK297349
RefSeq transcript (Entrez)NM_001303402 NM_001303403 NM_001346225 NM_001346226 NM_001346227 NM_001346228 NM_020839
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)WDR48
Cluster EST : UnigeneHs.109778 [ NCBI ]
CGAP (NCI)Hs.109778
Alternative Splicing GalleryENSG00000114742
Gene ExpressionWDR48 [ NCBI-GEO ]   WDR48 [ EBI - ARRAY_EXPRESS ]   WDR48 [ SEEK ]   WDR48 [ MEM ]
Gene Expression Viewer (FireBrowse)WDR48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57599
GTEX Portal (Tissue expression)WDR48
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAF3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAF3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAF3
Splice isoforms : SwissVarQ8TAF3
PhosPhoSitePlusQ8TAF3
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)DUF3337    G-protein_beta_WD-40_rep    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)DUF3337 (PF11816)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam11816    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)WDR48
DMDM Disease mutations57599
Blocks (Seattle)WDR48
PDB (SRS)5CVL    5CVN    5CVO    5K1A    5K1B    5K1C    5L8E    5L8W   
PDB (PDBSum)5CVL    5CVN    5CVO    5K1A    5K1B    5K1C    5L8E    5L8W   
PDB (IMB)5CVL    5CVN    5CVO    5K1A    5K1B    5K1C    5L8E    5L8W   
PDB (RSDB)5CVL    5CVN    5CVO    5K1A    5K1B    5K1C    5L8E    5L8W   
Structural Biology KnowledgeBase5CVL    5CVN    5CVO    5K1A    5K1B    5K1C    5L8E    5L8W   
SCOP (Structural Classification of Proteins)5CVL    5CVN    5CVO    5K1A    5K1B    5K1C    5L8E    5L8W   
CATH (Classification of proteins structures)5CVL    5CVN    5CVO    5K1A    5K1B    5K1C    5L8E    5L8W   
SuperfamilyQ8TAF3
Human Protein AtlasENSG00000114742
Peptide AtlasQ8TAF3
HPRD11146
IPIIPI00658210   IPI00658079   IPI00937128   IPI00792902   IPI00791758   IPI00953242   IPI00926184   IPI01026171   IPI00926629   IPI00926894   IPI00927102   
Protein Interaction databases
DIP (DOE-UCLA)Q8TAF3
IntAct (EBI)Q8TAF3
FunCoupENSG00000114742
BioGRIDWDR48
STRING (EMBL)WDR48
ZODIACWDR48
Ontologies - Pathways
QuickGOQ8TAF3
Ontology : AmiGOdouble-strand break repair via homologous recombination  protein binding  nucleus  nucleoplasm  lysosome  late endosome  spermatogenesis  single fertilization  viral process  protein deubiquitination  protein deubiquitination  multicellular organism growth  thiol-dependent ubiquitinyl hydrolase activity  intracellular membrane-bounded organelle  skin development  embryonic organ development  skeletal system morphogenesis  homeostasis of number of cells  positive regulation of epithelial cell proliferation  seminiferous tubule development  regulation of protein monoubiquitination  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  protein binding  nucleus  nucleoplasm  lysosome  late endosome  spermatogenesis  single fertilization  viral process  protein deubiquitination  protein deubiquitination  multicellular organism growth  thiol-dependent ubiquitinyl hydrolase activity  intracellular membrane-bounded organelle  skin development  embryonic organ development  skeletal system morphogenesis  homeostasis of number of cells  positive regulation of epithelial cell proliferation  seminiferous tubule development  regulation of protein monoubiquitination  
Pathways : KEGGFanconi anemia pathway   
NDEx NetworkWDR48
Atlas of Cancer Signalling NetworkWDR48
Wikipedia pathwaysWDR48
Orthology - Evolution
OrthoDB57599
GeneTree (enSembl)ENSG00000114742
Phylogenetic Trees/Animal Genes : TreeFamWDR48
HOVERGENQ8TAF3
HOGENOMQ8TAF3
Homologs : HomoloGeneWDR48
Homology/Alignments : Family Browser (UCSC)WDR48
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWDR48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WDR48
dbVarWDR48
ClinVarWDR48
1000_GenomesWDR48 
Exome Variant ServerWDR48
ExAC (Exome Aggregation Consortium)WDR48 (select the gene name)
Genetic variants : HAPMAP57599
Genomic Variants (DGV)WDR48 [DGVbeta]
DECIPHERWDR48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisWDR48 
Mutations
ICGC Data PortalWDR48 
TCGA Data PortalWDR48 
Broad Tumor PortalWDR48
OASIS PortalWDR48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWDR48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDWDR48
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch WDR48
DgiDB (Drug Gene Interaction Database)WDR48
DoCM (Curated mutations)WDR48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WDR48 (select a term)
intoGenWDR48
Cancer3DWDR48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612167   
Orphanet22831   
MedgenWDR48
Genetic Testing Registry WDR48
NextProtQ8TAF3 [Medical]
TSGene57599
GENETestsWDR48
Target ValidationWDR48
Huge Navigator WDR48 [HugePedia]
snp3D : Map Gene to Disease57599
BioCentury BCIQWDR48
ClinGenWDR48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57599
Chemical/Pharm GKB GenePA134956949
Clinical trialWDR48
Miscellaneous
canSAR (ICR)WDR48 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWDR48
EVEXWDR48
GoPubMedWDR48
iHOPWDR48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 13:02:47 CEST 2017

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