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WDR45 (WD repeat domain 45)

Identity

Alias_namesWDRX1
WD repeat domain, X-linked 1
Alias_symbol (synonym)JM5
WIPI4
NBIA5
Other aliasNBIA4
WIPI-4
HGNC (Hugo) WDR45
LocusID (NCBI) 11152
Atlas_Id 75715
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 48932092 and ends at 48937564 bp from pter ( according to hg19-Feb_2009)

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)WDR45   28912
Cards
Entrez_Gene (NCBI)WDR45  11152  WD repeat domain 45
AliasesJM5; NBIA4; NBIA5; WDRX1; 
WIPI-4; WIPI4
GeneCards (Weizmann)WDR45
Ensembl hg19 (Hinxton)ENSG00000196998 [Gene_View]  chrX:48932092-48937564 [Contig_View]  WDR45 [Vega]
Ensembl hg38 (Hinxton)ENSG00000196998 [Gene_View]  chrX:48932092-48937564 [Contig_View]  WDR45 [Vega]
ICGC DataPortalENSG00000196998
TCGA cBioPortalWDR45
AceView (NCBI)WDR45
Genatlas (Paris)WDR45
WikiGenes11152
SOURCE (Princeton)WDR45
Genetics Home Reference (NIH)WDR45
Genomic and cartography
GoldenPath hg19 (UCSC)WDR45  -     chrX:48932092-48937564 -  Xp11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)WDR45  -     Xp11.23   [Description]    (hg38-Dec_2013)
EnsemblWDR45 - Xp11.23 [CytoView hg19]  WDR45 - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBIWDR45 [Mapview hg19]  WDR45 [Mapview hg38]
OMIM300526   300894   
Gene and transcription
Genbank (Entrez)AJ005897 AK023344 AK225122 AK301084 AK315717
RefSeq transcript (Entrez)NM_001029896 NM_007075
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_033004 NT_079573 NW_004929439
Consensus coding sequences : CCDS (NCBI)WDR45
Cluster EST : UnigeneHs.632807 [ NCBI ]
CGAP (NCI)Hs.632807
Alternative Splicing GalleryENSG00000196998
Gene ExpressionWDR45 [ NCBI-GEO ]   WDR45 [ EBI - ARRAY_EXPRESS ]   WDR45 [ SEEK ]   WDR45 [ MEM ]
Gene Expression Viewer (FireBrowse)WDR45 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11152
GTEX Portal (Tissue expression)WDR45
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y484   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y484  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y484
Splice isoforms : SwissVarQ9Y484
PhosPhoSitePlusQ9Y484
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)WDR45
DMDM Disease mutations11152
Blocks (Seattle)WDR45
SuperfamilyQ9Y484
Human Protein AtlasENSG00000196998
Peptide AtlasQ9Y484
HPRD06597
IPIIPI00647947   IPI00026634   IPI00642665   IPI01012561   IPI00642108   IPI00641163   IPI01020956   IPI00947041   IPI00946395   IPI00946246   IPI01015746   IPI00944955   IPI00944981   IPI00946761   IPI00945413   IPI00945407   IPI00641707   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y484
IntAct (EBI)Q9Y484
FunCoupENSG00000196998
BioGRIDWDR45
STRING (EMBL)WDR45
ZODIACWDR45
Ontologies - Pathways
QuickGOQ9Y484
Ontology : AmiGOautophagosome assembly  mitochondrion degradation  cytosol  protein lipidation  autophagy  cellular response to nitrogen starvation  extrinsic component of membrane  phosphatidylinositol-3-phosphate binding  pre-autophagosomal structure membrane  protein localization to pre-autophagosomal structure  nucleophagy  phosphatidylinositol-3,5-bisphosphate binding  
Ontology : EGO-EBIautophagosome assembly  mitochondrion degradation  cytosol  protein lipidation  autophagy  cellular response to nitrogen starvation  extrinsic component of membrane  phosphatidylinositol-3-phosphate binding  pre-autophagosomal structure membrane  protein localization to pre-autophagosomal structure  nucleophagy  phosphatidylinositol-3,5-bisphosphate binding  
NDEx NetworkWDR45
Atlas of Cancer Signalling NetworkWDR45
Wikipedia pathwaysWDR45
Orthology - Evolution
OrthoDB11152
GeneTree (enSembl)ENSG00000196998
Phylogenetic Trees/Animal Genes : TreeFamWDR45
HOVERGENQ9Y484
HOGENOMQ9Y484
Homologs : HomoloGeneWDR45
Homology/Alignments : Family Browser (UCSC)WDR45
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWDR45 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WDR45
dbVarWDR45
ClinVarWDR45
1000_GenomesWDR45 
Exome Variant ServerWDR45
ExAC (Exome Aggregation Consortium)WDR45 (select the gene name)
Genetic variants : HAPMAP11152
Genomic Variants (DGV)WDR45 [DGVbeta]
DECIPHER (Syndromes)X:48932092-48937564  ENSG00000196998
CONAN: Copy Number AnalysisWDR45 
Mutations
ICGC Data PortalWDR45 
TCGA Data PortalWDR45 
Broad Tumor PortalWDR45
OASIS PortalWDR45 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWDR45  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDWDR45
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch WDR45
DgiDB (Drug Gene Interaction Database)WDR45
DoCM (Curated mutations)WDR45 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WDR45 (select a term)
intoGenWDR45
Cancer3DWDR45(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300526    300894   
Orphanet21922   
MedgenWDR45
Genetic Testing Registry WDR45
NextProtQ9Y484 [Medical]
TSGene11152
GENETestsWDR45
Huge Navigator WDR45 [HugePedia]
snp3D : Map Gene to Disease11152
BioCentury BCIQWDR45
ClinGenWDR45
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11152
Chemical/Pharm GKB GenePA134927673
Clinical trialWDR45
Miscellaneous
canSAR (ICR)WDR45 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWDR45
EVEXWDR45
GoPubMedWDR45
iHOPWDR45
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:51:36 CET 2017

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