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WDR43 (WD repeat domain 43)

Identity

Alias (NCBI)NET12
UTP5
HGNC (Hugo) WDR43
HGNC Alias symbKIAA0007
NET12
UTP5
HGNC Alias nameUTP5, small subunit (SSU) processome component, homolog (yeast)
LocusID (NCBI) 23160
Atlas_Id 53057
Location 2p23.2  [Link to chromosome band 2p23]
Location_base_pair Starts at 28894667 and ends at 28948219 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CACNA2D4 (12p13.33) / WDR43 (2p23.2)NT5DC1 (6q22.1) / WDR43 (2p23.2)WDR43 (2p23.2) / LOC100131564 ()
WDR43 (2p23.2) / MBP (18q23)WDR43 (2p23.2) / SACM1L (3p21.31)WDR43 (2p23.2) / TRIM54 (2p23.3)

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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Small Cell Carcinoma
t(2;12)(p23;p13) CACNA2D4/WDR43


External links

Nomenclature
HGNC (Hugo)WDR43   28945
Cards
Entrez_Gene (NCBI)WDR43  23160  WD repeat domain 43
AliasesNET12; UTP5
GeneCards (Weizmann)WDR43
Ensembl hg19 (Hinxton)ENSG00000163811 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163811 [Gene_View]  ENSG00000163811 [Sequence]  chr2:28894667-28948219 [Contig_View]  WDR43 [Vega]
ICGC DataPortalENSG00000163811
TCGA cBioPortalWDR43
AceView (NCBI)WDR43
Genatlas (Paris)WDR43
WikiGenes23160
SOURCE (Princeton)WDR43
Genetics Home Reference (NIH)WDR43
Genomic and cartography
GoldenPath hg38 (UCSC)WDR43  -     chr2:28894667-28948219 +  2p23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)WDR43  -     2p23.2   [Description]    (hg19-Feb_2009)
GoldenPathWDR43 - 2p23.2 [CytoView hg19]  WDR43 - 2p23.2 [CytoView hg38]
ImmunoBaseENSG00000163811
genome Data Viewer NCBIWDR43 [Mapview hg19]  
OMIM616195   
Gene and transcription
Genbank (Entrez)AK000836 AW593733 BC024234 BC033206 CA311794
RefSeq transcript (Entrez)NM_015131
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)WDR43
Alternative Splicing GalleryENSG00000163811
Gene ExpressionWDR43 [ NCBI-GEO ]   WDR43 [ EBI - ARRAY_EXPRESS ]   WDR43 [ SEEK ]   WDR43 [ MEM ]
Gene Expression Viewer (FireBrowse)WDR43 [ Firebrowse - Broad ]
GenevisibleExpression of WDR43 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23160
GTEX Portal (Tissue expression)WDR43
Human Protein AtlasENSG00000163811-WDR43 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15061   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15061  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15061
Splice isoforms : SwissVarQ15061
PhosPhoSitePlusQ15061
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)SSU_processome_Utp12    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Utp12 (PF04003)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam04003    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)WDR43
DMDM Disease mutations23160
Blocks (Seattle)WDR43
SuperfamilyQ15061
Human Protein Atlas [tissue]ENSG00000163811-WDR43 [tissue]
Peptide AtlasQ15061
IPIIPI00937477   IPI00893052   IPI00893207   IPI00892938   IPI00892529   
Protein Interaction databases
DIP (DOE-UCLA)Q15061
IntAct (EBI)Q15061
FunCoupENSG00000163811
BioGRIDWDR43
STRING (EMBL)WDR43
ZODIACWDR43
Ontologies - Pathways
QuickGOQ15061
Ontology : AmiGOchromatin  RNA polymerase II complex binding  fibrillar center  transcription elongation regulator activity  RNA binding  protein binding  nucleoplasm  nucleoplasm  nucleolus  rRNA processing  regulation of transcription elongation from RNA polymerase II promoter  positive regulation of transcription by RNA polymerase I  regulation of stem cell population maintenance  positive regulation of rRNA processing  
Ontology : EGO-EBIchromatin  RNA polymerase II complex binding  fibrillar center  transcription elongation regulator activity  RNA binding  protein binding  nucleoplasm  nucleoplasm  nucleolus  rRNA processing  regulation of transcription elongation from RNA polymerase II promoter  positive regulation of transcription by RNA polymerase I  regulation of stem cell population maintenance  positive regulation of rRNA processing  
Pathways : KEGGRibosome biogenesis in eukaryotes   
NDEx NetworkWDR43
Atlas of Cancer Signalling NetworkWDR43
Wikipedia pathwaysWDR43
Orthology - Evolution
OrthoDB23160
GeneTree (enSembl)ENSG00000163811
Phylogenetic Trees/Animal Genes : TreeFamWDR43
HOGENOMQ15061
Homologs : HomoloGeneWDR43
Homology/Alignments : Family Browser (UCSC)WDR43
Gene fusions - Rearrangements
Fusion : MitelmanCACNA2D4/WDR43 [12p13.33/2p23.2]  
Fusion : QuiverWDR43
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWDR43 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WDR43
dbVarWDR43
ClinVarWDR43
MonarchWDR43
1000_GenomesWDR43 
Exome Variant ServerWDR43
GNOMAD BrowserENSG00000163811
Varsome BrowserWDR43
Genetic variants : HAPMAP23160
Genomic Variants (DGV)WDR43 [DGVbeta]
DECIPHERWDR43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisWDR43 
Mutations
ICGC Data PortalWDR43 
TCGA Data PortalWDR43 
Broad Tumor PortalWDR43
OASIS PortalWDR43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWDR43  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DWDR43
Mutations and Diseases : HGMDWDR43
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 WDR43
DgiDB (Drug Gene Interaction Database)WDR43
DoCM (Curated mutations)WDR43 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WDR43 (select a term)
intoGenWDR43
Cancer3DWDR43(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616195   
Orphanet
DisGeNETWDR43
MedgenWDR43
Genetic Testing Registry WDR43
NextProtQ15061 [Medical]
TSGene23160
GENETestsWDR43
Target ValidationWDR43
Huge Navigator WDR43 [HugePedia]
snp3D : Map Gene to Disease23160
BioCentury BCIQWDR43
ClinGenWDR43
Clinical trials, drugs, therapy
Protein Interactions : CTD23160
Pharm GKB GenePA134914163
Clinical trialWDR43
Miscellaneous
canSAR (ICR)WDR43 (select the gene name)
HarmonizomeWDR43
DataMed IndexWDR43
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWDR43
EVEXWDR43
GoPubMedWDR43
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:39:01 CEST 2020

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