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POLQ (DNA polymerase theta)

Identity

Alias (NCBI)PRO0327
HGNC (Hugo) POLQ
HGNC Alias symbPOLH
HGNC Previous namepolymerase (DNA directed), theta
 polymerase (DNA) theta
LocusID (NCBI) 10721
Atlas_Id 41779
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 121431431 and ends at 121545988 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)
POLQ (3q13.33) / DEFB136 (8p23.1)

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

 



External links

Nomenclature
HGNC (Hugo)POLQ   9186
Cards
Entrez_Gene (NCBI)POLQ  10721  DNA polymerase theta
AliasesPRO0327
GeneCards (Weizmann)POLQ
Ensembl hg19 (Hinxton)ENSG00000051341 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000051341 [Gene_View]  ENSG00000051341 [Sequence]  chr3:121431431-121545988 [Contig_View]  POLQ [Vega]
ICGC DataPortalENSG00000051341
TCGA cBioPortalPOLQ
AceView (NCBI)POLQ
Genatlas (Paris)POLQ
WikiGenes10721
SOURCE (Princeton)POLQ
Genetics Home Reference (NIH)POLQ
Genomic and cartography
GoldenPath hg38 (UCSC)POLQ  -     chr3:121431431-121545988 -  3q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLQ  -     3q13.33   [Description]    (hg19-Feb_2009)
GoldenPathPOLQ - 3q13.33 [CytoView hg19]  POLQ - 3q13.33 [CytoView hg38]
ImmunoBaseENSG00000051341
genome Data Viewer NCBIPOLQ [Mapview hg19]  
OMIM604419   
Gene and transcription
Genbank (Entrez)AA767021 AB209867 AF043628 AF052573 AF090919
RefSeq transcript (Entrez)NM_199420
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POLQ
Alternative Splicing GalleryENSG00000051341
Gene ExpressionPOLQ [ NCBI-GEO ]   POLQ [ EBI - ARRAY_EXPRESS ]   POLQ [ SEEK ]   POLQ [ MEM ]
Gene Expression Viewer (FireBrowse)POLQ [ Firebrowse - Broad ]
GenevisibleExpression of POLQ in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10721
GTEX Portal (Tissue expression)POLQ
Human Protein AtlasENSG00000051341-POLQ [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75417   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75417  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75417
Splice isoforms : SwissVarO75417
PhosPhoSitePlusO75417
Domaine pattern : Prosite (Expaxy)DNA_POLYMERASE_A (PS00447)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    DNA-dir_DNA_pol_A_CS    DNA-dir_DNA_pol_A_palm_dom    DNA_polymerase_A    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    RNaseH-like_sf    RNaseH_sf   
Domain families : Pfam (Sanger)DEAD (PF00270)    DNA_pol_A (PF00476)    Helicase_C (PF00271)   
Domain families : Pfam (NCBI)pfam00270    pfam00476    pfam00271   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  POLAc (SM00482)  
Conserved Domain (NCBI)POLQ
DMDM Disease mutations10721
Blocks (Seattle)POLQ
PDB (RSDB)4X0P    4X0Q    5A9F    5A9J    5AGA   
PDB Europe4X0P    4X0Q    5A9F    5A9J    5AGA   
PDB (PDBSum)4X0P    4X0Q    5A9F    5A9J    5AGA   
PDB (IMB)4X0P    4X0Q    5A9F    5A9J    5AGA   
Structural Biology KnowledgeBase4X0P    4X0Q    5A9F    5A9J    5AGA   
SCOP (Structural Classification of Proteins)4X0P    4X0Q    5A9F    5A9J    5AGA   
CATH (Classification of proteins structures)4X0P    4X0Q    5A9F    5A9J    5AGA   
SuperfamilyO75417
Human Protein Atlas [tissue]ENSG00000051341-POLQ [tissue]
Peptide AtlasO75417
HPRD10375
IPIIPI00794779   IPI01012356   IPI00873495   IPI00022982   
Protein Interaction databases
DIP (DOE-UCLA)O75417
IntAct (EBI)O75417
FunCoupENSG00000051341
BioGRIDPOLQ
STRING (EMBL)POLQ
ZODIACPOLQ
Ontologies - Pathways
QuickGOO75417
Ontology : AmiGOdouble-strand break repair via homologous recombination  chromatin binding  damaged DNA binding  DNA-directed DNA polymerase activity  DNA-directed DNA polymerase activity  DNA-directed DNA polymerase activity  protein binding  ATP binding  nucleoplasm  chromosome  cytoplasm  DNA-dependent DNA replication  DNA repair  base-excision repair  double-strand break repair  cellular response to DNA damage stimulus  5'-3' exonuclease activity  somatic hypermutation of immunoglobulin genes  single-stranded DNA-dependent ATP-dependent DNA helicase activity  DNA duplex unwinding  protein homooligomerization  5'-deoxyribose-5-phosphate lyase activity  DNA biosynthetic process  double-strand break repair via alternative nonhomologous end joining  negative regulation of double-strand break repair via homologous recombination  
Ontology : EGO-EBIdouble-strand break repair via homologous recombination  chromatin binding  damaged DNA binding  DNA-directed DNA polymerase activity  DNA-directed DNA polymerase activity  DNA-directed DNA polymerase activity  protein binding  ATP binding  nucleoplasm  chromosome  cytoplasm  DNA-dependent DNA replication  DNA repair  base-excision repair  double-strand break repair  cellular response to DNA damage stimulus  5'-3' exonuclease activity  somatic hypermutation of immunoglobulin genes  single-stranded DNA-dependent ATP-dependent DNA helicase activity  DNA duplex unwinding  protein homooligomerization  5'-deoxyribose-5-phosphate lyase activity  DNA biosynthetic process  double-strand break repair via alternative nonhomologous end joining  negative regulation of double-strand break repair via homologous recombination  
NDEx NetworkPOLQ
Atlas of Cancer Signalling NetworkPOLQ
Wikipedia pathwaysPOLQ
Orthology - Evolution
OrthoDB10721
GeneTree (enSembl)ENSG00000051341
Phylogenetic Trees/Animal Genes : TreeFamPOLQ
HOGENOMO75417
Homologs : HomoloGenePOLQ
Homology/Alignments : Family Browser (UCSC)POLQ
Gene fusions - Rearrangements
Fusion : QuiverPOLQ
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLQ [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLQ
dbVarPOLQ
ClinVarPOLQ
MonarchPOLQ
1000_GenomesPOLQ 
Exome Variant ServerPOLQ
GNOMAD BrowserENSG00000051341
Varsome BrowserPOLQ
Genetic variants : HAPMAP10721
Genomic Variants (DGV)POLQ [DGVbeta]
DECIPHERPOLQ [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOLQ 
Mutations
ICGC Data PortalPOLQ 
TCGA Data PortalPOLQ 
Broad Tumor PortalPOLQ
OASIS PortalPOLQ [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOLQ  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPOLQ
Mutations and Diseases : HGMDPOLQ
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 POLQ
DgiDB (Drug Gene Interaction Database)POLQ
DoCM (Curated mutations)POLQ (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POLQ (select a term)
intoGenPOLQ
Cancer3DPOLQ(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604419   
Orphanet
DisGeNETPOLQ
MedgenPOLQ
Genetic Testing Registry POLQ
NextProtO75417 [Medical]
TSGene10721
GENETestsPOLQ
Target ValidationPOLQ
Huge Navigator POLQ [HugePedia]
snp3D : Map Gene to Disease10721
BioCentury BCIQPOLQ
ClinGenPOLQ
Clinical trials, drugs, therapy
Protein Interactions : CTD10721
Pharm GKB GenePA33506
Clinical trialPOLQ
Miscellaneous
canSAR (ICR)POLQ (select the gene name)
HarmonizomePOLQ
DataMed IndexPOLQ
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLQ
EVEXPOLQ
GoPubMedPOLQ
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 14 14:27:30 CEST 2020

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