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APEX1 (APEX nuclease (multifunctional DNA repair enzyme) 1)

Identity

Other namesAPE
APE1
APEN
APEX
APX
HAP1
REF1
HGNC (Hugo) APEX1
LocusID (NCBI) 328
Location 14q11.2
Location_base_pair Starts at 20923290 and ends at 20925931 bp from pter ( according to hg19-Feb_2009)
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)APEX1   587
Cards
Entrez_Gene (NCBI)APEX1  328  APEX nuclease (multifunctional DNA repair enzyme) 1
GeneCards (Weizmann)APEX1
Ensembl hg19 (Hinxton)ENSG00000100823 [Gene_View]  chr14:20923290-20925931 [Contig_View]  APEX1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100823 [Gene_View]  chr14:20923290-20925931 [Contig_View]  APEX1 [Vega]
ICGC DataPortalENSG00000100823
cBioPortalAPEX1
AceView (NCBI)APEX1
Genatlas (Paris)APEX1
WikiGenes328
SOURCE (Princeton)APEX1
Genomic and cartography
GoldenPath hg19 (UCSC)APEX1  -     chr14:20923290-20925931 +  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)APEX1  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblAPEX1 - 14q11.2 [CytoView hg19]  APEX1 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIAPEX1 [Mapview hg19]  APEX1 [Mapview hg38]
OMIM107748   
Gene and transcription
Genbank (Entrez)AI554786 AK098588 AK291100 BC002338 BC004979
RefSeq transcript (Entrez)NM_001244249 NM_001641 NM_080648 NM_080649
RefSeq genomic (Entrez)AC_000146 NC_000014 NC_018925 NG_008718 NT_026437 NW_001838110 NW_004929393
Consensus coding sequences : CCDS (NCBI)APEX1
Cluster EST : UnigeneHs.73722 [ NCBI ]
CGAP (NCI)Hs.73722
Alternative Splicing : Fast-db (Paris)GSHG0008688
Alternative Splicing GalleryENSG00000100823
Gene ExpressionAPEX1 [ NCBI-GEO ]     APEX1 [ SEEK ]   APEX1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27695 (Uniprot)
NextProtP27695  [Medical]
With graphics : InterProP27695
Splice isoforms : SwissVarP27695 (Swissvar)
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.-3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)AP_NUCLEASE_F1_1 (PS00726)    AP_NUCLEASE_F1_2 (PS00727)    AP_NUCLEASE_F1_3 (PS00728)    AP_NUCLEASE_F1_4 (PS51435)   
Domains : Interpro (EBI)AP_endonuc_1    AP_endonuclease_F1_BS    AP_endonuclease_F1_CS    Endo/exonuclease/phosphatase   
Related proteins : CluSTrP27695
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)   
Domain families : Pfam (NCBI)pfam03372   
DMDM Disease mutations328
Blocks (Seattle)P27695
PDB (SRS)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND   
PDB (PDBSum)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND   
PDB (IMB)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND   
PDB (RSDB)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND   
Human Protein AtlasENSG00000100823
Peptide AtlasP27695
HPRD00136
IPIIPI00215911   IPI01025699   IPI01025878   IPI01025537   IPI01025654   IPI01025255   IPI01025023   IPI01024798   IPI01026385   IPI01026512   IPI00792538   IPI00978725   
Protein Interaction databases
DIP (DOE-UCLA)P27695
IntAct (EBI)P27695
FunCoupENSG00000100823
BioGRIDAPEX1
IntegromeDBAPEX1
STRING (EMBL)APEX1
Ontologies - Pathways
QuickGOP27695
Ontology : AmiGODNA catabolic process, endonucleolytic  DNA catabolic process, endonucleolytic  DNA catabolic process, endonucleolytic  DNA catabolic process, exonucleolytic  DNA binding  damaged DNA binding  transcription coactivator activity  transcription corepressor activity  DNA-(apurinic or apyrimidinic site) lyase activity  DNA-(apurinic or apyrimidinic site) lyase activity  endonuclease activity  endodeoxyribonuclease activity  RNA-DNA hybrid ribonuclease activity  phosphodiesterase I activity  uracil DNA N-glycosylase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  mitochondrion  endoplasmic reticulum  centrosome  ribosome  DNA repair  DNA repair  base-excision repair  base-excision repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-templated  aging  phosphoric diester hydrolase activity  double-stranded DNA 3'-5' exodeoxyribonuclease activity  3'-5' exonuclease activity  3'-5' exonuclease activity  negative regulation of smooth muscle cell migration  oxidoreductase activity  nuclear speck  site-specific endodeoxyribonuclease activity, specific for altered base  chromatin DNA binding  protein complex binding  response to drug  regulation of mRNA stability  poly(A) RNA binding  cell redox homeostasis  positive regulation of DNA repair  metal ion binding  perinuclear region of cytoplasm  NF-kappaB binding  oxidation-reduction process  cellular response to hydrogen peroxide  cellular response to cAMP  cellular response to peptide hormone stimulus  DNA demethylation  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  RNA phosphodiester bond hydrolysis, endonucleolytic  RNA phosphodiester bond hydrolysis, endonucleolytic  positive regulation of G1/S transition of mitotic cell cycle  
Ontology : EGO-EBIDNA catabolic process, endonucleolytic  DNA catabolic process, endonucleolytic  DNA catabolic process, endonucleolytic  DNA catabolic process, exonucleolytic  DNA binding  damaged DNA binding  transcription coactivator activity  transcription corepressor activity  DNA-(apurinic or apyrimidinic site) lyase activity  DNA-(apurinic or apyrimidinic site) lyase activity  endonuclease activity  endodeoxyribonuclease activity  RNA-DNA hybrid ribonuclease activity  phosphodiesterase I activity  uracil DNA N-glycosylase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  mitochondrion  endoplasmic reticulum  centrosome  ribosome  DNA repair  DNA repair  base-excision repair  base-excision repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-templated  aging  phosphoric diester hydrolase activity  double-stranded DNA 3'-5' exodeoxyribonuclease activity  3'-5' exonuclease activity  3'-5' exonuclease activity  negative regulation of smooth muscle cell migration  oxidoreductase activity  nuclear speck  site-specific endodeoxyribonuclease activity, specific for altered base  chromatin DNA binding  protein complex binding  response to drug  regulation of mRNA stability  poly(A) RNA binding  cell redox homeostasis  positive regulation of DNA repair  metal ion binding  perinuclear region of cytoplasm  NF-kappaB binding  oxidation-reduction process  cellular response to hydrogen peroxide  cellular response to cAMP  cellular response to peptide hormone stimulus  DNA demethylation  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  RNA phosphodiester bond hydrolysis, endonucleolytic  RNA phosphodiester bond hydrolysis, endonucleolytic  positive regulation of G1/S transition of mitotic cell cycle  
Pathways : BIOCARTAGranzyme A mediated Apoptosis Pathway [Genes]   
Pathways : KEGGBase excision repair   
Protein Interaction DatabaseAPEX1
DoCM (Curated mutations)APEX1
Wikipedia pathwaysAPEX1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerAPEX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APEX1
dbVarAPEX1
ClinVarAPEX1
1000_GenomesAPEX1 
Exome Variant ServerAPEX1
SNP (GeneSNP Utah)APEX1
SNP : HGBaseAPEX1
Genetic variants : HAPMAPAPEX1
Genomic VariantsAPEX1  APEX1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000100823 
Somatic Mutations in Cancer : COSMICAPEX1 
CONAN: Copy Number AnalysisAPEX1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:20923290-20925931
Mutations and Diseases : HGMDAPEX1
OMIM107748   
MedgenAPEX1
NextProtP27695 [Medical]
GENETestsAPEX1
Disease Genetic AssociationAPEX1
Huge Navigator APEX1 [HugePedia]  APEX1 [HugeCancerGEM]
snp3D : Map Gene to Disease328
DGIdb (Drug Gene Interaction db)APEX1
General knowledge
Homologs : HomoloGeneAPEX1
Homology/Alignments : Family Browser (UCSC)APEX1
Phylogenetic Trees/Animal Genes : TreeFamAPEX1
Chemical/Protein Interactions : CTD328
Chemical/Pharm GKB GenePA201059
Clinical trialAPEX1
Cancer Resource (Charite)ENSG00000100823
Other databases
Probes
Litterature
PubMed419 Pubmed reference(s) in Entrez
CoreMineAPEX1
GoPubMedAPEX1
iHOPAPEX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:10:20 CET 2014

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