Atlas of Genetics and Cytogenetics in Oncology and Haematology

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POLD1 (DNA polymerase delta 1, catalytic subunit)

Identity

Alias_namesPOLD
polymerase (DNA directed), delta 1, catalytic subunit (125kD)
polymerase (DNA) delta 1, catalytic subunit
Alias_symbol (synonym)CDC2
Other aliasCRCS10
MDPL
HGNC (Hugo) POLD1
LocusID (NCBI) 5424
Atlas_Id 41770
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 50384323 and ends at 50418018 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)
CTSB (8p23.1) / POLD1 (19q13.33)EGFR (7p11.2) / POLD1 (19q13.33)

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) [ 1 ]

Solid Tumors TT_t0719p11q13ID107476

External links

Nomenclature
HGNC (Hugo)POLD1   9175
LRG (Locus Reference Genomic)LRG_785
Cards
Entrez_Gene (NCBI)POLD1  5424  DNA polymerase delta 1, catalytic subunit
AliasesCDC2; CRCS10; MDPL; POLD
GeneCards (Weizmann)POLD1
Ensembl hg19 (Hinxton)ENSG00000062822 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000062822 [Gene_View]  ENSG00000062822 [Sequence]  chr19:50384323-50418018 [Contig_View]  POLD1 [Vega]
ICGC DataPortalENSG00000062822
TCGA cBioPortalPOLD1
AceView (NCBI)POLD1
Genatlas (Paris)POLD1
WikiGenes5424
SOURCE (Princeton)POLD1
Genetics Home Reference (NIH)POLD1
Genomic and cartography
GoldenPath hg38 (UCSC)POLD1  -     chr19:50384323-50418018 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLD1  -     19q13.33   [Description]    (hg19-Feb_2009)
GoldenPathPOLD1 - 19q13.33 [CytoView hg19]  POLD1 - 19q13.33 [CytoView hg38]
ImmunoBaseENSG00000062822
Mapping of homologs : NCBIPOLD1 [Mapview hg19]  POLD1 [Mapview hg38]
OMIM174761   612591   615381   
Gene and transcription
Genbank (Entrez)AA236879 AB209560 BC008800 BM193218 CD101690
RefSeq transcript (Entrez)NM_001256849 NM_001308632 NM_002691
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POLD1
Alternative Splicing GalleryENSG00000062822
Gene ExpressionPOLD1 [ NCBI-GEO ]   POLD1 [ EBI - ARRAY_EXPRESS ]   POLD1 [ SEEK ]   POLD1 [ MEM ]
Gene Expression Viewer (FireBrowse)POLD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5424
GTEX Portal (Tissue expression)POLD1
Human Protein AtlasENSG00000062822-POLD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28340   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28340  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28340
Splice isoforms : SwissVarP28340
PhosPhoSitePlusP28340
Domaine pattern : Prosite (Expaxy)DNA_POLYMERASE_B (PS00116)   
Domains : Interpro (EBI)DNA-dir_DNA_pol_B    DNA-dir_DNA_pol_B_CS    DNA-dir_DNA_pol_B_exonuc    DNA-dir_DNA_pol_B_multi_dom    DNA_pol_B_C    DNA_pol_palm_dom_sf    RNaseH-like_sf    RNaseH_sf    Znf-C4pol   
Domain families : Pfam (Sanger)DNA_pol_B (PF00136)    DNA_pol_B_exo1 (PF03104)    zf-C4pol (PF14260)   
Domain families : Pfam (NCBI)pfam00136    pfam03104    pfam14260   
Domain families : Smart (EMBL)POLBc (SM00486)  
Conserved Domain (NCBI)POLD1
DMDM Disease mutations5424
Blocks (Seattle)POLD1
SuperfamilyP28340
Human Protein Atlas [tissue]ENSG00000062822-POLD1 [tissue]
Peptide AtlasP28340
HPRD08882
IPIIPI00002894   IPI00655631   IPI00556021   
Protein Interaction databases
DIP (DOE-UCLA)P28340
IntAct (EBI)P28340
FunCoupENSG00000062822
BioGRIDPOLD1
STRING (EMBL)POLD1
ZODIACPOLD1
Ontologies - Pathways
QuickGOP28340
Ontology : AmiGOnucleotide-excision repair complex  nucleotide binding  telomere maintenance  DNA synthesis involved in DNA repair  DNA synthesis involved in DNA repair  nuclear chromosome, telomeric region  DNA binding  chromatin binding  damaged DNA binding  DNA-directed DNA polymerase activity  DNA-directed DNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  DNA replication  DNA-dependent DNA replication  DNA repair  transcription-coupled nucleotide-excision repair  base-excision repair, gap-filling  base-excision repair, gap-filling  nucleotide-excision repair, DNA incision, 5'-to lesion  nucleotide-excision repair, DNA gap filling  nucleotide-excision repair, DNA gap filling  nucleotide-excision repair, DNA gap filling  nucleotide-excision repair, DNA gap filling  mismatch repair  3'-5'-exodeoxyribonuclease activity  response to UV  membrane  aggresome  translesion synthesis  telomere maintenance via semi-conservative replication  nucleotide-excision repair, DNA incision  cellular response to UV  DNA damage response, detection of DNA damage  delta DNA polymerase complex  delta DNA polymerase complex  DNA replication proofreading  metal ion binding  4 iron, 4 sulfur cluster binding  fatty acid homeostasis  
Ontology : EGO-EBInucleotide-excision repair complex  nucleotide binding  telomere maintenance  DNA synthesis involved in DNA repair  DNA synthesis involved in DNA repair  nuclear chromosome, telomeric region  DNA binding  chromatin binding  damaged DNA binding  DNA-directed DNA polymerase activity  DNA-directed DNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  DNA replication  DNA-dependent DNA replication  DNA repair  transcription-coupled nucleotide-excision repair  base-excision repair, gap-filling  base-excision repair, gap-filling  nucleotide-excision repair, DNA incision, 5'-to lesion  nucleotide-excision repair, DNA gap filling  nucleotide-excision repair, DNA gap filling  nucleotide-excision repair, DNA gap filling  nucleotide-excision repair, DNA gap filling  mismatch repair  3'-5'-exodeoxyribonuclease activity  response to UV  membrane  aggresome  translesion synthesis  telomere maintenance via semi-conservative replication  nucleotide-excision repair, DNA incision  cellular response to UV  DNA damage response, detection of DNA damage  delta DNA polymerase complex  delta DNA polymerase complex  DNA replication proofreading  metal ion binding  4 iron, 4 sulfur cluster binding  fatty acid homeostasis  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    DNA replication    Base excision repair    Nucleotide excision repair    Mismatch repair    Homologous recombination    HTLV-I infection   
NDEx NetworkPOLD1
Atlas of Cancer Signalling NetworkPOLD1
Wikipedia pathwaysPOLD1
Orthology - Evolution
OrthoDB5424
GeneTree (enSembl)ENSG00000062822
Phylogenetic Trees/Animal Genes : TreeFamPOLD1
HOGENOMP28340
Homologs : HomoloGenePOLD1
Homology/Alignments : Family Browser (UCSC)POLD1
Gene fusions - Rearrangements
Fusion : MitelmanEGFR/POLD1 [7p11.2/19q13.33]  [t(7;19)(p11;q13)]  
Fusion : QuiverPOLD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLD1
dbVarPOLD1
ClinVarPOLD1
1000_GenomesPOLD1 
Exome Variant ServerPOLD1
ExAC (Exome Aggregation Consortium)ENSG00000062822
GNOMAD BrowserENSG00000062822
Varsome BrowserPOLD1
Genetic variants : HAPMAP5424
Genomic Variants (DGV)POLD1 [DGVbeta]
DECIPHERPOLD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOLD1 
Mutations
ICGC Data PortalPOLD1 
TCGA Data PortalPOLD1 
Broad Tumor PortalPOLD1
OASIS PortalPOLD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOLD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPOLD1
Mutations and Diseases : HGMDPOLD1
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 POLD1
DgiDB (Drug Gene Interaction Database)POLD1
DoCM (Curated mutations)POLD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POLD1 (select a term)
intoGenPOLD1
Cancer3DPOLD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM174761    612591    615381   
Orphanet22331    23548   
DisGeNETPOLD1
MedgenPOLD1
Genetic Testing Registry POLD1
NextProtP28340 [Medical]
TSGene5424
GENETestsPOLD1
Target ValidationPOLD1
Huge Navigator POLD1 [HugePedia]
snp3D : Map Gene to Disease5424
BioCentury BCIQPOLD1
ClinGenPOLD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5424
Chemical/Pharm GKB GenePA33496
Clinical trialPOLD1
Miscellaneous
canSAR (ICR)POLD1 (select the gene name)
DataMed IndexPOLD1
Probes
Litterature
PubMed155 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLD1
EVEXPOLD1
GoPubMedPOLD1
iHOPPOLD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Feb 19 17:02:42 CET 2020
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