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WDR62 (WD repeat domain 62)

Identity

Alias_namesC19orf14
MCPH2
chromosome 19 open reading frame 14
microcephaly, primary autosomal recessive 2
Alias_symbol (synonym)DKFZP434J046
FLJ33298
Other alias
HGNC (Hugo) WDR62
LocusID (NCBI) 284403
Atlas_Id 53801
Location 19q13.12  [Link to chromosome band 19q13]
Location_base_pair Starts at 36545783 and ends at 36596012 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CAPNS1 (19q13.12) / WDR62 (19q13.12)H19 (11p15.5) / WDR62 (19q13.12)SIPA1L3 (19q13.13) / WDR62 (19q13.12)
THAP8 (19q13.12) / WDR62 (19q13.12)WDR62 (19q13.12) / AC002511.1 ()WDR62 (19q13.12) / CCND2 (12p13.32)
WDR62 (19q13.12) / FMNL2 (2q23.3)WDR62 (19q13.12) / HCST (19q13.12)SIPA1L3 19q13.13 / WDR62 19q13.12
THAP8 19q13.12 / WDR62 19q13.12WDR62 19q13.12 AC002511.1WDR62 19q13.12 / HCST 19q13.12

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)WDR62   24502
Cards
Entrez_Gene (NCBI)WDR62  284403  WD repeat domain 62
AliasesC19orf14; MCPH2
GeneCards (Weizmann)WDR62
Ensembl hg19 (Hinxton)ENSG00000075702 [Gene_View]  chr19:36545783-36596012 [Contig_View]  WDR62 [Vega]
Ensembl hg38 (Hinxton)ENSG00000075702 [Gene_View]  chr19:36545783-36596012 [Contig_View]  WDR62 [Vega]
ICGC DataPortalENSG00000075702
TCGA cBioPortalWDR62
AceView (NCBI)WDR62
Genatlas (Paris)WDR62
WikiGenes284403
SOURCE (Princeton)WDR62
Genetics Home Reference (NIH)WDR62
Genomic and cartography
GoldenPath hg19 (UCSC)WDR62  -     chr19:36545783-36596012 +  19q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)WDR62  -     19q13.12   [Description]    (hg38-Dec_2013)
EnsemblWDR62 - 19q13.12 [CytoView hg19]  WDR62 - 19q13.12 [CytoView hg38]
Mapping of homologs : NCBIWDR62 [Mapview hg19]  WDR62 [Mapview hg38]
OMIM604317   613583   
Gene and transcription
Genbank (Entrez)AK090617 AL041673 AL117438 AL133651 AW029580
RefSeq transcript (Entrez)NM_001083961 NM_173636
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_028101 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)WDR62
Cluster EST : UnigeneHs.116244 [ NCBI ]
CGAP (NCI)Hs.116244
Alternative Splicing GalleryENSG00000075702
Gene ExpressionWDR62 [ NCBI-GEO ]   WDR62 [ EBI - ARRAY_EXPRESS ]   WDR62 [ SEEK ]   WDR62 [ MEM ]
Gene Expression Viewer (FireBrowse)WDR62 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)284403
GTEX Portal (Tissue expression)WDR62
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43379   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43379  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43379
Splice isoforms : SwissVarO43379
PhosPhoSitePlusO43379
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)Quinoprotein_ADH-like_supfam    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom    WDR62   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)WDR62
DMDM Disease mutations284403
Blocks (Seattle)WDR62
SuperfamilyO43379
Human Protein AtlasENSG00000075702
Peptide AtlasO43379
HPRD10721
IPIIPI00470483   IPI00654823   IPI00644445   IPI00794521   
Protein Interaction databases
DIP (DOE-UCLA)O43379
IntAct (EBI)O43379
FunCoupENSG00000075702
BioGRIDWDR62
STRING (EMBL)WDR62
ZODIACWDR62
Ontologies - Pathways
QuickGOO43379
Ontology : AmiGOspindle pole  protein binding  nucleus  centrosome  centriole  mitotic spindle organization  centriole replication  cerebral cortex development  neurogenesis  
Ontology : EGO-EBIspindle pole  protein binding  nucleus  centrosome  centriole  mitotic spindle organization  centriole replication  cerebral cortex development  neurogenesis  
NDEx NetworkWDR62
Atlas of Cancer Signalling NetworkWDR62
Wikipedia pathwaysWDR62
Orthology - Evolution
OrthoDB284403
GeneTree (enSembl)ENSG00000075702
Phylogenetic Trees/Animal Genes : TreeFamWDR62
HOVERGENO43379
HOGENOMO43379
Homologs : HomoloGeneWDR62
Homology/Alignments : Family Browser (UCSC)WDR62
Gene fusions - Rearrangements
Fusion : MitelmanCAPNS1/WDR62 [19q13.12/19q13.12]  [t(19;19)(q13;q13)]  
Fusion : MitelmanSIPA1L3/WDR62 [19q13.13/19q13.12]  [t(19;19)(q13;q13)]  
Fusion : MitelmanTHAP8/WDR62 [19q13.12/19q13.12]  [t(19;19)(q13;q13)]  
Fusion : MitelmanWDR62/FMNL2 [19q13.12/2q23.3]  [t(2;19)(q23;q13)]  
Fusion : MitelmanWDR62/HCST [19q13.12/19q13.12]  [t(19;19)(q13;q13)]  
Fusion: TCGASIPA1L3 19q13.13 WDR62 19q13.12 PRAD
Fusion: TCGATHAP8 19q13.12 WDR62 19q13.12 BRCA
Fusion: TCGAWDR62 19q13.12 AC002511.1 BRCA
Fusion: TCGAWDR62 19q13.12 HCST 19q13.12 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWDR62 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WDR62
dbVarWDR62
ClinVarWDR62
1000_GenomesWDR62 
Exome Variant ServerWDR62
ExAC (Exome Aggregation Consortium)WDR62 (select the gene name)
Genetic variants : HAPMAP284403
Genomic Variants (DGV)WDR62 [DGVbeta]
DECIPHER (Syndromes)19:36545783-36596012  ENSG00000075702
CONAN: Copy Number AnalysisWDR62 
Mutations
ICGC Data PortalWDR62 
TCGA Data PortalWDR62 
Broad Tumor PortalWDR62
OASIS PortalWDR62 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICWDR62  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDWDR62
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 WDR62
DgiDB (Drug Gene Interaction Database)WDR62
DoCM (Curated mutations)WDR62 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WDR62 (select a term)
intoGenWDR62
Cancer3DWDR62(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604317    613583   
Orphanet732   
MedgenWDR62
Genetic Testing Registry WDR62
NextProtO43379 [Medical]
TSGene284403
GENETestsWDR62
Huge Navigator WDR62 [HugePedia]
snp3D : Map Gene to Disease284403
BioCentury BCIQWDR62
ClinGenWDR62
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD284403
Chemical/Pharm GKB GenePA134963627
Clinical trialWDR62
Miscellaneous
canSAR (ICR)WDR62 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWDR62
EVEXWDR62
GoPubMedWDR62
iHOPWDR62
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:25:00 CEST 2017

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