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POLQ (DNA polymerase theta)

Identity

Alias_namespolymerase (DNA directed), theta
polymerase (DNA) theta
Alias_symbol (synonym)POLH
Other aliasPRO0327
HGNC (Hugo) POLQ
LocusID (NCBI) 10721
Atlas_Id 41779
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 121431426 and ends at 121546006 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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]  chr3:121431426-121546006 [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  -     chr3:121431426-121546006 -  3q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLQ  -     3q13.33   [Description]    (hg19-Feb_2009)
EnsemblPOLQ - 3q13.33 [CytoView hg19]  POLQ - 3q13.33 [CytoView hg38]
Mapping of homologs : NCBIPOLQ [Mapview hg19]  POLQ [Mapview hg38]
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
Cluster EST : UnigeneHs.241517 [ NCBI ]
CGAP (NCI)Hs.241517
Alternative Splicing GalleryENSG00000051341
Gene ExpressionPOLQ [ NCBI-GEO ]   POLQ [ EBI - ARRAY_EXPRESS ]   POLQ [ SEEK ]   POLQ [ MEM ]
Gene Expression Viewer (FireBrowse)POLQ [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10721
GTEX Portal (Tissue expression)POLQ
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_dom   
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 (SRS)4X0P    4X0Q    5A9F    5A9J    5AGA   
PDB (PDBSum)4X0P    4X0Q    5A9F    5A9J    5AGA   
PDB (IMB)4X0P    4X0Q    5A9F    5A9J    5AGA   
PDB (RSDB)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 AtlasENSG00000051341
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  protein binding  ATP binding  nucleus  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 ATPase activity  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  protein binding  ATP binding  nucleus  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 ATPase activity  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
HOVERGENO75417
HOGENOMO75417
Homologs : HomoloGenePOLQ
Homology/Alignments : Family Browser (UCSC)POLQ
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLQ [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLQ
dbVarPOLQ
ClinVarPOLQ
1000_GenomesPOLQ 
Exome Variant ServerPOLQ
ExAC (Exome Aggregation Consortium)POLQ (select the gene name)
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604419   
Orphanet
MedgenPOLQ
Genetic Testing Registry POLQ
NextProtO75417 [Medical]
TSGene10721
GENETestsPOLQ
Huge Navigator POLQ [HugePedia]
snp3D : Map Gene to Disease10721
BioCentury BCIQPOLQ
ClinGenPOLQ
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10721
Chemical/Pharm GKB GenePA33506
Clinical trialPOLQ
Miscellaneous
canSAR (ICR)POLQ (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLQ
EVEXPOLQ
GoPubMedPOLQ
iHOPPOLQ
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 : Fri May 19 12:31:59 CEST 2017

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