Atlas of Genetics and Cytogenetics in Oncology and Haematology


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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
Atlas_Id 669
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
TCGA 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 AK311548 BC002338
RefSeq transcript (Entrez)NM_001244249 NM_001641 NM_080648 NM_080649
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_008718 NT_026437 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 : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)328
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27695 (Uniprot)
NextProtP27695  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP27695
Splice isoforms : SwissVarP27695 (Swissvar)
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.- [ Enzyme-SRS ]   3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ PRIAM ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   3.1.-.- [ IUBMB ]
PhosPhoSitePlusP27695
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   
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)   
Domain families : Pfam (NCBI)pfam03372   
DMDM Disease mutations328
Blocks (Seattle)APEX1
PDB (SRS)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE   
PDB (PDBSum)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE   
PDB (IMB)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE   
PDB (RSDB)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE   
Structural Biology KnowledgeBase1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE   
SCOP (Structural Classification of Proteins)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE   
CATH (Classification of proteins structures)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE   
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
ZODIACAPEX1
Ontologies - Pathways
QuickGOP27695
Ontology : AmiGOmitotic cell cycle  telomere maintenance via recombination  telomere maintenance  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  nucleolus  cytoplasm  mitochondrion  endoplasmic reticulum  centrosome  ribosome  DNA strand elongation involved in DNA replication  DNA repair  DNA repair  base-excision repair  base-excision repair  transcription, DNA-templated  regulation of transcription, DNA-templated  phosphoric diester hydrolase activity  double-stranded DNA 3'-5' exodeoxyribonuclease activity  3'-5' exonuclease activity  3'-5' exonuclease activity  oxidoreductase activity  nuclear speck  site-specific endodeoxyribonuclease activity, specific for altered base  chromatin DNA binding  telomere maintenance via semi-conservative replication  regulation of mRNA stability  poly(A) RNA binding  cell redox homeostasis  positive regulation of DNA repair  metal ion binding  perinuclear region of cytoplasm  oxidation-reduction process  DNA demethylation  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  RNA phosphodiester bond hydrolysis, endonucleolytic  negative regulation of nucleic acid-templated transcription  
Ontology : EGO-EBImitotic cell cycle  telomere maintenance via recombination  telomere maintenance  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  nucleolus  cytoplasm  mitochondrion  endoplasmic reticulum  centrosome  ribosome  DNA strand elongation involved in DNA replication  DNA repair  DNA repair  base-excision repair  base-excision repair  transcription, DNA-templated  regulation of transcription, DNA-templated  phosphoric diester hydrolase activity  double-stranded DNA 3'-5' exodeoxyribonuclease activity  3'-5' exonuclease activity  3'-5' exonuclease activity  oxidoreductase activity  nuclear speck  site-specific endodeoxyribonuclease activity, specific for altered base  chromatin DNA binding  telomere maintenance via semi-conservative replication  regulation of mRNA stability  poly(A) RNA binding  cell redox homeostasis  positive regulation of DNA repair  metal ion binding  perinuclear region of cytoplasm  oxidation-reduction process  DNA demethylation  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  RNA phosphodiester bond hydrolysis, endonucleolytic  negative regulation of nucleic acid-templated transcription  
Pathways : BIOCARTAGranzyme A mediated Apoptosis Pathway [Genes]   
Pathways : KEGGBase excision repair   
Protein Interaction DatabaseAPEX1
Atlas of Cancer Signalling NetworkAPEX1
Wikipedia pathwaysAPEX1
Orthology - Evolution
OrthoDB328
GeneTree (enSembl)ENSG00000100823
Phylogenetic Trees/Animal Genes : TreeFamAPEX1
Homologs : HomoloGeneAPEX1
Homology/Alignments : Family Browser (UCSC)APEX1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerAPEX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APEX1
dbVarAPEX1
ClinVarAPEX1
1000_GenomesAPEX1 
Exome Variant ServerAPEX1
Exome Aggregation Consortium (ExAC)ENSG00000100823
SNP (GeneSNP Utah)APEX1
SNP : HGBaseAPEX1
Genetic variants : HAPMAPAPEX1
Genomic Variants (DGV)APEX1 [DGVbeta]
Mutations
ICGC Data PortalAPEX1 
TCGA Data PortalAPEX1 
Tumor PortalAPEX1
TCGA Copy Number PortalAPEX1
Somatic Mutations in Cancer : COSMICAPEX1 
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 APEX1
DgiDB (Drug Gene Interaction Database)APEX1
DoCM (Curated mutations)APEX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APEX1 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:20923290-20925931
CONAN: Copy Number AnalysisAPEX1 
Mutations and Diseases : HGMDAPEX1
OMIM107748   
MedgenAPEX1
NextProtP27695 [Medical]
TSGene328
GENETestsAPEX1
Huge Navigator APEX1 [HugePedia]  APEX1 [HugeCancerGEM]
snp3D : Map Gene to Disease328
BioCentury BCIQAPEX1
General knowledge
Chemical/Protein Interactions : CTD328
Chemical/Pharm GKB GenePA201059
Clinical trialAPEX1
Other databases
Probes
Litterature
PubMed473 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (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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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jan 16 18:08:13 CET 2016

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