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POLE Gene(Protein Coding)

DNA Polymerase Epsilon, Catalytic Subunit

GCID:
GC12M132624
GIFtS:
57
Genes Participants
UDN Logo

Aliases for POLE Gene

Aliases for POLE Gene

  • DNA Polymerase Epsilon, Catalytic Subunit 2 3 5
  • Polymerase (DNA) Epsilon, Catalytic Subunit 2 3
  • DNA Polymerase Epsilon Catalytic Subunit A 2 3
  • DNA Polymerase II Subunit A 3 4
  • EC 2.7.7.7 4 56
  • POLE1 3 4
  • Polymerase (DNA Directed), Epsilon, Catalytic Subunit 3
  • DNA Polymerase Epsilon Catalytic Subunit Protein 3
  • Polymerase (DNA Directed), Epsilon 2
  • EC 2.7.7 56
  • CRCS12 3
  • FILS 3

External Ids for POLE Gene

Previous GeneCards Identifiers for POLE Gene

  • GC12U990073
  • GC12P132569
  • GC12M132825
  • GC12M131439
  • GC12M131810
  • GC12M131710
  • GC12M133200
  • GC12M129980

Summaries for POLE Gene

Entrez Gene Summary for POLE Gene

  • This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

CIViC summary for POLE Gene

GeneCards Summary for POLE Gene

POLE (DNA Polymerase Epsilon, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLE include Colorectal Cancer 12 and Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature. Among its related pathways are Pyrimidine metabolism (KEGG) and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding.

UniProtKB/Swiss-Prot for POLE Gene

  • Participates in DNA repair and in chromosomal DNA replication.

Gene Wiki entry for POLE Gene

Additional gene information for POLE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLE Gene

Genomics for POLE Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for POLE Gene

Promoters and enhancers for POLE Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12I132686 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 596.3 -0.6 -602 3.9 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 E2F8 ZNF207 ZNF143 POLE PXMP2 ENSG00000256632 ANKLE2 NOC4L EP400 ZNF605 CHFR EP400P1 ZNF84
GH12I132827 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 33.5 -141.0 -140959 2.6 PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 GOLGA3 ANKLE2 ZNF140 ZNF26 EP400 NOC4L CHFR ZNF891 POLE ZNF268
GH12I132709 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 34.7 -23.3 -23346 2.7 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF213 E2F8 GC12M132706 PGAM5 POLE ANKLE2 NOC4L EP400 ZNF605 EP400P1 ZNF140 ZNF891
GH12I132622 Enhancer 1.1 Ensembl ENCODE 37.6 +64.7 64656 1.7 PKNOX1 CLOCK SIN3A ZBTB7B FOS ZNF592 SREBF1 MYNN GLIS1 WT1 ENSG00000280311 POLE ANKLE2 P2RX2
GH12I132597 Enhancer 1.2 Ensembl ENCODE 33.5 +89.2 89210 1.8 HDGF ARNT YBX1 ZNF2 ZNF143 ZNF548 SP3 ZNF662 REST ZNF592 ZNF140 EP400 ZNF84 ZNF268 ZNF891 ZNF26 GOLGA3 ZNF605 ANKLE2 DDX51
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POLE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POLE gene promoter:

Genomic Locations for POLE Gene

Genomic Locations for POLE Gene
chr12:132,623,753-132,687,524
(GRCh38/hg38)
Size:
63,772 bases
Orientation:
Minus strand
chr12:133,200,348-133,263,951
(GRCh37/hg19)

Genomic View for POLE Gene

Genes around POLE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLE Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for POLE Gene

Proteins for POLE Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for POLE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07864-DPOE1_HUMAN
    Recommended name:
    DNA polymerase epsilon catalytic subunit A
    Protein Accession:
    Q07864
    Secondary Accessions:
    • Q13533
    • Q86VH9

    Protein attributes for POLE Gene

    Size:
    2286 amino acids
    Molecular mass:
    261518 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Catalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1.
    SequenceCaution:
    • Sequence=AAA15448.1; Type=Frameshift; Positions=443, 448; Evidence={ECO:0000305}; Sequence=AAA15448.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POLE Gene

neXtProt entry for POLE Gene

Protein Expression for POLE Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for POLE Gene

Q07864:
  • DTDGIWC
  • ILNSFYGY
  • KKRYAVFN
  • YSVSDAVATY
  • ENSIFFE
  • LYDSLQLAHK
  • LITNREI
  • PDEVLRKG
  • LAFDIET
  • NGDFFDWPF
  • DGSLAELKGFE
  • VMRKGAR
  • ELKGFEVKRRGEL
  • ETYVGGHVE
  • NREIVSEDI
  • MMISYMIDG

Post-translational modifications for POLE Gene

  • Ubiquitination at Lys431, Lys2110, and isoforms=2124

Other Protein References for POLE Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for POLE Gene

Gene Families for POLE Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for POLE Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for POLE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q07864

UniProtKB/Swiss-Prot:

DPOE1_HUMAN :
  • The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.
  • Belongs to the DNA polymerase type-B family.
Domain:
  • The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
Family:
  • Belongs to the DNA polymerase type-B family.
genes like me logo Genes that share domains with POLE: view

Function for POLE Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for POLE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot Function:
Participates in DNA repair and in chromosomal DNA replication.

Enzyme Numbers (IUBMB) for POLE Gene

Phenotypes From GWAS Catalog for POLE Gene

Gene Ontology (GO) - Molecular Function for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA,IEA 16762037
GO:0003682 chromatin binding IDA 16762037
GO:0003887 DNA-directed DNA polymerase activity IEA,IMP 16762037
genes like me logo Genes that share ontologies with POLE: view
genes like me logo Genes that share phenotypes with POLE: view

Human Phenotype Ontology for POLE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for POLE Gene

Localization for POLE Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLE Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLE gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 3
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 16762037
GO:0005654 nucleoplasm IDA,TAS --
GO:0005886 plasma membrane IDA --
GO:0008622 epsilon DNA polymerase complex IEA,IDA 10801849
genes like me logo Genes that share ontologies with POLE: view

Pathways & Interactions for POLE Gene

SuperPathways for POLE Gene

PathCards logo More details on SuperPathways for POLE
SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
PCNA-Dependent Long Patch Base Excision Repair
.88
Resolution of AP sites via the multiple-nucleotide patch replacement pathway
.88
Extension of Telomeres
.77
Telomere C-strand (Lagging Strand) Synthesis
.77
DNA replication
.67
Base Excision Repair
.65
Resolution of Abasic Sites (AP sites)
.65
Gap-filling DNA repair synthesis and ligation in GG-NER
.64
Base excision repair
.63
Recognition of DNA damage by PCNA-containing replication complex
.62
Cell cycle Transition and termination of DNA replication
.48
Telomere C-strand synthesis initiation
.33
DNA replication initiation
.01
2 CDK-mediated phosphorylation and removal of Cdc6
DNA Replication
.93
Synthesis of DNA
.93
DNA Replication Pre-Initiation
.80
M/G1 Transition
.80
S Phase
.78
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
.90
Gap-filling DNA repair synthesis and ligation in TC-NER
.90
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
.84
Global Genome Nucleotide Excision Repair (GG-NER)
.76
Nucleotide Excision Repair
.76
4 DNA Double-Strand Break Repair
DNA Double-Strand Break Repair
.83
Homology Directed Repair
.83
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
.79
DNA Repair
.53
5 Nucleotide excision repair
Nucleotide excision repair
.60
Dual Incision in GG-NER
.60
Nucleotide Excision Repair Pathway
.39
genes like me logo Genes that share pathways with POLE: view

Gene Ontology (GO) - Biological Process for POLE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000731 DNA synthesis involved in DNA repair IMP 1730053
GO:0006260 DNA replication IMP,IEA 16762037
GO:0006270 DNA replication initiation TAS --
GO:0006272 leading strand elongation IBA --
genes like me logo Genes that share ontologies with POLE: view

No data available for SIGNOR curated interactions for POLE Gene

Drugs & Compounds for POLE Gene

Products:

  1. Drug

(5) Drugs for POLE Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 81
Phosphoric acid Approved Pharma 0
dATP Experimental Pharma Full agonist, Agonist 0
dctp Experimental Pharma 0
dgtp Experimental Pharma 0

(2) Additional Compounds for POLE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
 365-08-2
genes like me logo Genes that share compounds with POLE: view

Transcripts for POLE Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for POLE Gene

(7) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(206) Selected AceView cDNA sequences:
(22) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POLE Gene

Polymerase (DNA directed), epsilon, catalytic subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLE Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 43 ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b · 46c ^ 47a · 47b ^ 48a · 48b ^ 49 ^ 50 ^ 51a · 51b · 51c
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6: - - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for POLE Gene

GeneLoc Exon Structure for
POLE
ECgene alternative splicing isoforms for
POLE

Expression for POLE Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POLE Gene

mRNA expression in normal human tissues for POLE Gene
mRNA expression by GTEx for POLE GenemRNA expression by BioGPS for POLE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POLE Gene

This gene is overexpressed in Brain - Cerebellum (x4.5) and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for POLE Gene

This gene is overexpressed in Lavage (49.0) and Monocytes (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POLE Gene



NURSA nuclear receptor signaling pathways regulating expression of POLE Gene:

POLE

SOURCE GeneReport for Unigene cluster for POLE Gene:

Hs.524871

Evidence on tissue expression from TISSUES for POLE Gene

  • Blood(4.3)
  • Nervous system(3.4)
  • Intestine(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • respiratory
  • skeleton
Organs:
Head and neck:
  • cheek
  • face
  • forehead
  • head
  • jaw
  • maxilla
  • mouth
  • skull
General:
  • blood
  • blood vessel
  • bone marrow
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with POLE: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for POLE Gene

Orthologs for POLE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia POLE 33
  • 99.72 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 98 (a)
 OneToMany
-- 34
  • 97 (a)
 OneToMany
-- 34
  • 88 (a)
 OneToMany
-- 34
  • 86 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia POLE 33 34
  • 88.25 (n)
dog
(Canis familiaris)
 Mammalia POLE 33 34
  • 88.11 (n)
oppossum
(Monodelphis domestica)
 Mammalia POLE 34
  • 88 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Pole 33
  • 86.19 (n)
mouse
(Mus musculus)
 Mammalia Pole 33 16 34
  • 86.13 (n)
chicken
(Gallus gallus)
 Aves POLE 33 34
  • 79.04 (n)
lizard
(Anolis carolinensis)
 Reptilia POLE 34
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pole 33
  • 73.01 (n)
African clawed frog
(Xenopus laevis)
 Amphibia pole-A 33
zebrafish
(Danio rerio)
 Actinopterygii pole 33 34
  • 73.72 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1164 33
fruit fly
(Drosophila melanogaster)
 Insecta DNApol-epsilon 33 34
  • 60.35 (n)
DNApol-egr 35
  • 40 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004615 33
  • 57.36 (n)
worm
(Caenorhabditis elegans)
 Secernentea F33H2.5 35 33 34
  • 51.63 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR657C 33
  • 50.04 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C02585g 33
  • 49.78 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes POL2 33 34 36
  • 48.91 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons TIL1 33
  • 50.54 (n)
rice
(Oryza sativa)
 Liliopsida Os02g0511900 33
  • 50.76 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 57 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU04548 33
  • 53.73 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes cdc20 33
  • 48.64 (n)
Species where no ortholog for POLE was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLE Gene

ENSEMBL:
Gene Tree for POLE (if available)
TreeFam:
Gene Tree for POLE (if available)

Paralogs for POLE Gene

(2) SIMAP similar genes for POLE Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with POLE: view

No data available for Paralogs for POLE Gene

Variants for POLE Gene

Sequence variations from dbSNP and Humsavar for POLE Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000162996 likely-benign, not specified, Colorectal cancer, susceptibility to, 12, Hereditary cancer-predisposing syndrome 132,675,427(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1000861691 likely-benign, not specified, Colorectal cancer, susceptibility to, 12, Hereditary cancer-predisposing syndrome 132,661,077(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1002061657 likely-benign, not specified, Colorectal cancer, susceptibility to, 12 132,677,417(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1004972253 likely-benign, Colorectal cancer, susceptibility to, 12, Hereditary cancer-predisposing syndrome 132,642,901(-) G/A/C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1006182755 likely-benign, Hereditary cancer-predisposing syndrome 132,664,462(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for POLE Gene

Variant ID Type Subtype PubMed ID
esv1667239 CNV deletion 17803354
esv2422284 CNV deletion 17116639
esv2665414 CNV deletion 23128226
esv2747031 CNV deletion 23290073
esv2747032 CNV deletion 23290073
esv3367737 CNV duplication 20981092
esv3631307 CNV loss 21293372
esv3631308 CNV gain 21293372
nsv1037074 CNV gain 25217958
nsv1047500 CNV gain 25217958
nsv512304 CNV loss 21212237
nsv561109 CNV loss 21841781
nsv561110 CNV loss 21841781
nsv820101 CNV loss 19587683
nsv952512 CNV deletion 24416366

Variation tolerance for POLE Gene

Residual Variation Intolerance Score: 2.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.99; 87.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLE Gene

Human Gene Mutation Database (HGMD)
POLE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLE Gene

Disorders for POLE Gene

MalaCards: The human disease database

(9) MalaCards diseases for POLE Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer 12
  • colorectal cancer, susceptibility to, 12
facial dysmorphism, immunodeficiency, livedo, and short stature
  • fils
polymerase proofreading-related adenomatous polyposis
  • ppap
endometrioid ovary carcinoma
  • endometrioid carcinoma of ovary
breast mucinous carcinoma
  • invasive mucinous breast carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search POLE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPOE1_HUMAN
  • Colorectal cancer 12 (CRCS12) [MIM:615083]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable. {ECO:0000269 PubMed:23263490, ECO:0000269 PubMed:24501277, ECO:0000269 PubMed:25860647, ECO:0000269 PubMed:27573199}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) [MIM:615139]: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood. {ECO:0000269 PubMed:23230001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POLE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POLE: view

No data available for Genatlas for POLE Gene

Publications for POLE Gene

  1. Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon. (PMID: 8486689) Kesti T … Syväoja JE (The Journal of biological chemistry 1993) 3 4 22 58
  2. The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy. (PMID: 27612425) Ahn SM … Jang SJ (Oncotarget 2016) 3 4 58
  3. A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. (PMID: 25860647) Hansen MF … Sjursen W (Familial cancer 2015) 3 4 58
  4. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. (PMID: 24501277) Valle L … Blanco I (Human molecular genetics 2014) 3 4 58
  5. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. (PMID: 23263490) Palles C … Tomlinson I (Nature genetics 2013) 3 4 58

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