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POLE (polymerase (DNA) epsilon, catalytic subunit)

Identity

Other namesCRCS12
FILS
POLE1
HGNC (Hugo) POLE
LocusID (NCBI) 5426
Atlas_Id 41773
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 133200348 and ends at 133264110 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
POLE (12q24.33) / ADM (11p15.4)POLE (12q24.33) / ANKS1B (12q23.1)POLE (12q24.33) / HMGCL (1p36.11)
POLE 12q24.33 / ANKS1B 12q23.1

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) [ 0 ]
  Colon: Colorectal adenocarcinoma

External links

Nomenclature
HGNC (Hugo)POLE   9177
Cards
Entrez_Gene (NCBI)POLE  5426  polymerase (DNA) epsilon, catalytic subunit
AliasesCRCS12; FILS; POLE1
GeneCards (Weizmann)POLE
Ensembl hg19 (Hinxton)ENSG00000177084 [Gene_View]  chr12:133200348-133264110 [Contig_View]  POLE [Vega]
Ensembl hg38 (Hinxton)ENSG00000177084 [Gene_View]  chr12:133200348-133264110 [Contig_View]  POLE [Vega]
ICGC DataPortalENSG00000177084
TCGA cBioPortalPOLE
AceView (NCBI)POLE
Genatlas (Paris)POLE
WikiGenes5426
SOURCE (Princeton)POLE
Genomic and cartography
GoldenPath hg19 (UCSC)POLE  -     chr12:133200348-133264110 -  12q24.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)POLE  -     12q24.33   [Description]    (hg38-Dec_2013)
EnsemblPOLE - 12q24.33 [CytoView hg19]  POLE - 12q24.33 [CytoView hg38]
Mapping of homologs : NCBIPOLE [Mapview hg19]  POLE [Mapview hg38]
OMIM174762   615083   615139   
Gene and transcription
Genbank (Entrez)AF128542 AF128544 AK025087 AK093003 AK128248
RefSeq transcript (Entrez)NM_006231
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_033840 NT_024477 NW_004929387
Consensus coding sequences : CCDS (NCBI)POLE
Cluster EST : UnigeneHs.524871 [ NCBI ]
CGAP (NCI)Hs.524871
Alternative Splicing GalleryENSG00000177084
Gene ExpressionPOLE [ NCBI-GEO ]   POLE [ EBI - ARRAY_EXPRESS ]   POLE [ SEEK ]   POLE [ MEM ]
Gene Expression Viewer (FireBrowse)POLE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5426
GTEX Portal (Tissue expression)POLE
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07864 (Uniprot)
NextProtQ07864  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07864
Splice isoforms : SwissVarQ07864 (Swissvar)
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 ]   
PhosPhoSitePlusQ07864
Domains : Interpro (EBI)DNA-dir_DNA_pol_B    DNA-dir_DNA_pol_B_exonuc    DNA-dir_DNA_pol_B_multi_dom    DNA_pol_e_suA_C    RNaseH-like_dom   
Domain families : Pfam (Sanger)DNA_pol_B (PF00136)    DNA_pol_B_exo1 (PF03104)    DUF1744 (PF08490)   
Domain families : Pfam (NCBI)pfam00136    pfam03104    pfam08490   
Domain families : Smart (EMBL)POLBc (SM00486)  
DMDM Disease mutations5426
Blocks (Seattle)POLE
SuperfamilyQ07864
Human Protein AtlasENSG00000177084
Peptide AtlasQ07864
HPRD07177
IPIIPI00939602   IPI00940894   IPI01019102   IPI00000898   IPI00797203   IPI00744598   IPI00790334   IPI01012998   IPI01013454   IPI01013828   
Protein Interaction databases
DIP (DOE-UCLA)Q07864
IntAct (EBI)Q07864
FunCoupENSG00000177084
BioGRIDPOLE
STRING (EMBL)POLE
ZODIACPOLE
Ontologies - Pathways
QuickGOQ07864
Ontology : AmiGOG1/S transition of mitotic cell cycle  G1/S transition of mitotic cell cycle  nucleotide binding  telomere maintenance via recombination  DNA synthesis involved in DNA repair  DNA binding  chromatin binding  DNA-directed DNA polymerase activity  nucleus  nucleoplasm  nucleoplasm  plasma membrane  DNA replication  DNA replication initiation  base-excision repair, gap-filling  nucleotide-excision repair, DNA gap filling  zinc ion binding  3'-5' exonuclease activity  epsilon DNA polymerase complex  embryonic organ development  4 iron, 4 sulfur cluster binding  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  G1/S transition of mitotic cell cycle  nucleotide binding  telomere maintenance via recombination  DNA synthesis involved in DNA repair  DNA binding  chromatin binding  DNA-directed DNA polymerase activity  nucleus  nucleoplasm  nucleoplasm  plasma membrane  DNA replication  DNA replication initiation  base-excision repair, gap-filling  nucleotide-excision repair, DNA gap filling  zinc ion binding  3'-5' exonuclease activity  epsilon DNA polymerase complex  embryonic organ development  4 iron, 4 sulfur cluster binding  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    DNA replication    Base excision repair    Nucleotide excision repair    HTLV-I infection   
NDEx Network
Atlas of Cancer Signalling NetworkPOLE
Wikipedia pathwaysPOLE
Orthology - Evolution
OrthoDB5426
GeneTree (enSembl)ENSG00000177084
Phylogenetic Trees/Animal Genes : TreeFamPOLE
Homologs : HomoloGenePOLE
Homology/Alignments : Family Browser (UCSC)POLE
Gene fusions - Rearrangements
Fusion: TCGAPOLE 12q24.33 ANKS1B 12q23.1 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerPOLE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLE
dbVarPOLE
ClinVarPOLE
1000_GenomesPOLE 
Exome Variant ServerPOLE
ExAC (Exome Aggregation Consortium)POLE (select the gene name)
Genetic variants : HAPMAP5426
Genomic Variants (DGV)POLE [DGVbeta]
Mutations
ICGC Data PortalPOLE 
TCGA Data PortalPOLE 
Broad Tumor PortalPOLE
OASIS PortalPOLE [ Somatic mutations - Copy number]
Cancer Gene: CensusPOLE 
Somatic Mutations in Cancer : COSMICPOLE 
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 POLE
DgiDB (Drug Gene Interaction Database)POLE
DoCM (Curated mutations)POLE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POLE (select a term)
intoGenPOLE
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:133200348-133264110  ENSG00000177084
CONAN: Copy Number AnalysisPOLE 
Mutations and Diseases : HGMDPOLE
OMIM174762    615083    615139   
MedgenPOLE
Genetic Testing Registry POLE
NextProtQ07864 [Medical]
TSGene5426
GENETestsPOLE
Huge Navigator POLE [HugePedia]
snp3D : Map Gene to Disease5426
BioCentury BCIQPOLE
ClinGenPOLE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5426
Chemical/Pharm GKB GenePA277
Clinical trialPOLE
Miscellaneous
canSAR (ICR)POLE (select the gene name)
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLE
EVEXPOLE
GoPubMedPOLE
iHOPPOLE
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 : Tue Aug 9 19:07:22 CEST 2016

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