Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

POLE4 (DNA polymerase epsilon 4, accessory subunit)

Identity

Alias_namespolymerase (DNA-directed), epsilon 4 (p12 subunit)
polymerase (DNA) epsilon 4, accessory subunit
Alias_symbol (synonym)p12
Other aliasYHHQ1
HGNC (Hugo) POLE4
LocusID (NCBI) 56655
Atlas_Id 43419
Location 2p12  [Link to chromosome band 2p12]
Location_base_pair Starts at 74958643 and ends at 74969732 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)
POLE4 (2p12) / HK2 (2p12)

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)POLE4   18755
Cards
Entrez_Gene (NCBI)POLE4  56655  DNA polymerase epsilon 4, accessory subunit
AliasesYHHQ1; p12
GeneCards (Weizmann)POLE4
Ensembl hg19 (Hinxton)ENSG00000115350 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115350 [Gene_View]  chr2:74958643-74969732 [Contig_View]  POLE4 [Vega]
ICGC DataPortalENSG00000115350
TCGA cBioPortalPOLE4
AceView (NCBI)POLE4
Genatlas (Paris)POLE4
WikiGenes56655
SOURCE (Princeton)POLE4
Genetics Home Reference (NIH)POLE4
Genomic and cartography
GoldenPath hg38 (UCSC)POLE4  -     chr2:74958643-74969732 +  2p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLE4  -     2p12   [Description]    (hg19-Feb_2009)
EnsemblPOLE4 - 2p12 [CytoView hg19]  POLE4 - 2p12 [CytoView hg38]
Mapping of homologs : NCBIPOLE4 [Mapview hg19]  POLE4 [Mapview hg38]
OMIM607269   
Gene and transcription
Genbank (Entrez)AI815728 AY034104 BC031331 BU594966 BU597500
RefSeq transcript (Entrez)NM_019896
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POLE4
Cluster EST : UnigeneHs.469060 [ NCBI ]
CGAP (NCI)Hs.469060
Alternative Splicing GalleryENSG00000115350
Gene ExpressionPOLE4 [ NCBI-GEO ]   POLE4 [ EBI - ARRAY_EXPRESS ]   POLE4 [ SEEK ]   POLE4 [ MEM ]
Gene Expression Viewer (FireBrowse)POLE4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56655
GTEX Portal (Tissue expression)POLE4
Human Protein AtlasENSG00000115350-POLE4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NR33   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NR33  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NR33
Splice isoforms : SwissVarQ9NR33
Catalytic activity : Enzyme2.7.7.7 [ Enzyme-Expasy ]   2.7.7.72.7.7.7 [ IntEnz-EBI ]   2.7.7.7 [ BRENDA ]   2.7.7.7 [ KEGG ]   
PhosPhoSitePlusQ9NR33
Domains : Interpro (EBI)CBFA_NFYB_domain    Histone-fold   
Domain families : Pfam (Sanger)CBFD_NFYB_HMF (PF00808)   
Domain families : Pfam (NCBI)pfam00808   
Conserved Domain (NCBI)POLE4
DMDM Disease mutations56655
Blocks (Seattle)POLE4
SuperfamilyQ9NR33
Human Protein Atlas [tissue]ENSG00000115350-POLE4 [tissue]
Peptide AtlasQ9NR33
HPRD16238
IPIIPI00008436   
Protein Interaction databases
DIP (DOE-UCLA)Q9NR33
IntAct (EBI)Q9NR33
FunCoupENSG00000115350
BioGRIDPOLE4
STRING (EMBL)POLE4
ZODIACPOLE4
Ontologies - Pathways
QuickGOQ9NR33
Ontology : AmiGOG1/S transition of mitotic cell cycle  telomere maintenance via recombination  DNA binding  DNA-directed DNA polymerase activity  protein binding  nucleus  nucleoplasm  Ada2/Gcn5/Ada3 transcription activator complex  DNA replication initiation  epsilon DNA polymerase complex  histone H3 acetylation  protein heterodimerization activity  DNA biosynthetic process  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  telomere maintenance via recombination  DNA binding  DNA-directed DNA polymerase activity  protein binding  nucleus  nucleoplasm  Ada2/Gcn5/Ada3 transcription activator complex  DNA replication initiation  epsilon DNA polymerase complex  histone H3 acetylation  protein heterodimerization activity  DNA biosynthetic process  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    DNA replication    Base excision repair    Nucleotide excision repair    HTLV-I infection   
NDEx NetworkPOLE4
Atlas of Cancer Signalling NetworkPOLE4
Wikipedia pathwaysPOLE4
Orthology - Evolution
OrthoDB56655
GeneTree (enSembl)ENSG00000115350
Phylogenetic Trees/Animal Genes : TreeFamPOLE4
HOVERGENQ9NR33
HOGENOMQ9NR33
Homologs : HomoloGenePOLE4
Homology/Alignments : Family Browser (UCSC)POLE4
Gene fusions - Rearrangements
Fusion: Tumor Portal POLE4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLE4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLE4
dbVarPOLE4
ClinVarPOLE4
1000_GenomesPOLE4 
Exome Variant ServerPOLE4
ExAC (Exome Aggregation Consortium)ENSG00000115350
GNOMAD BrowserENSG00000115350
Genetic variants : HAPMAP56655
Genomic Variants (DGV)POLE4 [DGVbeta]
DECIPHERPOLE4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOLE4 
Mutations
ICGC Data PortalPOLE4 
TCGA Data PortalPOLE4 
Broad Tumor PortalPOLE4
OASIS PortalPOLE4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOLE4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOLE4
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 POLE4
DgiDB (Drug Gene Interaction Database)POLE4
DoCM (Curated mutations)POLE4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POLE4 (select a term)
intoGenPOLE4
Cancer3DPOLE4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607269   
Orphanet
MedgenPOLE4
Genetic Testing Registry POLE4
NextProtQ9NR33 [Medical]
TSGene56655
GENETestsPOLE4
Target ValidationPOLE4
Huge Navigator POLE4 [HugePedia]
snp3D : Map Gene to Disease56655
BioCentury BCIQPOLE4
ClinGenPOLE4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56655
Chemical/Pharm GKB GenePA38677
Clinical trialPOLE4
Miscellaneous
canSAR (ICR)POLE4 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLE4
EVEXPOLE4
GoPubMedPOLE4
iHOPPOLE4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 13:05:50 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.