Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1)

Identity

Alias (NCBI)APE
APE1
APEN
APEX
APX
HAP1
REF1
HGNC (Hugo) APEX1
HGNC Alias symbAPE
REF1
HAP1
APX
APEN
REF-1
APE-1
HGNC Previous nameAPEX
HGNC Previous nameAPEX nuclease (multifunctional DNA repair enzyme)
 APEX nuclease (multifunctional DNA repair enzyme) 1
LocusID (NCBI) 328
Atlas_Id 669
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 20455226 and ends at 20457767 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)
APEX1 (14q11.2)::GBF1 (10q24.32)CLIP1 (12q24.31)::APEX1 (14q11.2)HSD17B10 (Xp11.22)::APEX1 (14q11.2)
LRRC75A-AS1 (17p11.2)::APEX1 (14q11.2)

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    apurinic/apyrimidinic endodeoxyribonuclease 1
AliasesAPE; APE1; APEN; APEX; 
APX; HAP1; REF1
GeneCards (Weizmann)APEX1
Ensembl hg19 (Hinxton)ENSG00000100823 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100823 [Gene_View]  ENSG00000100823 [Sequence]  chr14:20455226-20457767 [Contig_View]  APEX1 [Vega]
ICGC DataPortalENSG00000100823
TCGA cBioPortalAPEX1
AceView (NCBI)APEX1
Genatlas (Paris)APEX1
SOURCE (Princeton)APEX1
Genetics Home Reference (NIH)APEX1
Genomic and cartography
GoldenPath hg38 (UCSC)APEX1  -     chr14:20455226-20457767 +  14q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APEX1  -     14q11.2   [Description]    (hg19-Feb_2009)
GoldenPathAPEX1 - 14q11.2 [CytoView hg19]  APEX1 - 14q11.2 [CytoView hg38]
ImmunoBaseENSG00000100823
Genome Data Viewer NCBIAPEX1 [Mapview hg19]  
OMIM107748   
Gene and transcription
Genbank (Entrez)AI554786 AK098588 AK291100 AK311548 BC002338
RefSeq transcript (Entrez)NM_001244249 NM_001641 NM_080648 NM_080649
Consensus coding sequences : CCDS (NCBI)APEX1
Gene ExpressionAPEX1 [ NCBI-GEO ]   APEX1 [ EBI - ARRAY_EXPRESS ]   APEX1 [ SEEK ]   APEX1 [ MEM ]
Gene Expression Viewer (FireBrowse)APEX1 [ Firebrowse - Broad ]
GenevisibleExpression of APEX1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)328
GTEX Portal (Tissue expression)APEX1
Human Protein AtlasENSG00000100823-APEX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27695   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP27695  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP27695
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/exonu/phosph_ase_sf    Endo/exonuclease/phosphatase   
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)   
Domain families : Pfam (NCBI)pfam03372   
Conserved Domain (NCBI)APEX1
PDB (RSDB)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE    5CFG    5DFF    5DFH    5DFI    5DFJ    5DG0    5WN0    5WN1    5WN2    5WN3    5WN4    5WN5    6BOQ    6BOR    6BOS    6BOT    6BOU    6BOV    6BOW    6MK3    6MKK    6MKM    6MKO    6P93    6P94    6W0Q    6W2P    6W3L    6W3N    6W3Q    6W3U    6W43    6W4I    6W4T   
PDB Europe1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE    5CFG    5DFF    5DFH    5DFI    5DFJ    5DG0    5WN0    5WN1    5WN2    5WN3    5WN4    5WN5    6BOQ    6BOR    6BOS    6BOT    6BOU    6BOV    6BOW    6MK3    6MKK    6MKM    6MKO    6P93    6P94    6W0Q    6W2P    6W3L    6W3N    6W3Q    6W3U    6W43    6W4I    6W4T   
PDB (PDBSum)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE    5CFG    5DFF    5DFH    5DFI    5DFJ    5DG0    5WN0    5WN1    5WN2    5WN3    5WN4    5WN5    6BOQ    6BOR    6BOS    6BOT    6BOU    6BOV    6BOW    6MK3    6MKK    6MKM    6MKO    6P93    6P94    6W0Q    6W2P    6W3L    6W3N    6W3Q    6W3U    6W43    6W4I    6W4T   
PDB (IMB)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE    5CFG    5DFF    5DFH    5DFI    5DFJ    5DG0    5WN0    5WN1    5WN2    5WN3    5WN4    5WN5    6BOQ    6BOR    6BOS    6BOT    6BOU    6BOV    6BOW    6MK3    6MKK    6MKM    6MKO    6P93    6P94    6W0Q    6W2P    6W3L    6W3N    6W3Q    6W3U    6W43    6W4I    6W4T   
Structural Biology KnowledgeBase1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE    5CFG    5DFF    5DFH    5DFI    5DFJ    5DG0    5WN0    5WN1    5WN2    5WN3    5WN4    5WN5    6BOQ    6BOR    6BOS    6BOT    6BOU    6BOV    6BOW    6MK3    6MKK    6MKM    6MKO    6P93    6P94    6W0Q    6W2P    6W3L    6W3N    6W3Q    6W3U    6W43    6W4I    6W4T   
SCOP (Structural Classification of Proteins)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE    5CFG    5DFF    5DFH    5DFI    5DFJ    5DG0    5WN0    5WN1    5WN2    5WN3    5WN4    5WN5    6BOQ    6BOR    6BOS    6BOT    6BOU    6BOV    6BOW    6MK3    6MKK    6MKM    6MKO    6P93    6P94    6W0Q    6W2P    6W3L    6W3N    6W3Q    6W3U    6W43    6W4I    6W4T   
CATH (Classification of proteins structures)1BIX    1CQG    1CQH    1DE8    1DE9    1DEW    1E9N    1HD7    2ISI    2O3H    3U8U    4IEM    4LND    4QH9    4QHD    4QHE    5CFG    5DFF    5DFH    5DFI    5DFJ    5DG0    5WN0    5WN1    5WN2    5WN3    5WN4    5WN5    6BOQ    6BOR    6BOS    6BOT    6BOU    6BOV    6BOW    6MK3    6MKK    6MKM    6MKO    6P93    6P94    6W0Q    6W2P    6W3L    6W3N    6W3Q    6W3U    6W43    6W4I    6W4T   
SuperfamilyP27695
AlphaFold pdb e-kbP27695   
Human Protein Atlas [tissue]ENSG00000100823-APEX1 [tissue]
HPRD00136
Protein Interaction databases
DIP (DOE-UCLA)P27695
IntAct (EBI)P27695
BioGRIDAPEX1
STRING (EMBL)APEX1
ZODIACAPEX1
Ontologies - Pathways
QuickGOP27695
Ontology : AmiGOtelomere maintenance  chromosome, telomeric region  DNA binding  damaged DNA binding  double-stranded telomeric DNA binding  transcription coactivator activity  transcription corepressor activity  RNA binding  DNA-(apurinic or apyrimidinic site) endonuclease activity  DNA-(apurinic or apyrimidinic site) endonuclease activity  DNA-(apurinic or apyrimidinic site) endonuclease activity  endonuclease activity  endodeoxyribonuclease activity  RNA-DNA hybrid ribonuclease activity  phosphodiesterase I activity  phosphodiesterase I activity  uracil DNA N-glycosylase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  nucleolus  cytoplasm  mitochondrion  endoplasmic reticulum  centrosome  ribosome  DNA repair  base-excision repair  base-excision repair  base-excision repair, base-free sugar-phosphate removal  base-excision repair, gap-filling  DNA recombination  aging  phosphoric diester hydrolase activity  double-stranded DNA exodeoxyribonuclease 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  response to drug  regulation of apoptotic process  regulation of mRNA stability  protein-containing complex binding  cell redox homeostasis  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  perinuclear region of cytoplasm  NF-kappaB binding  cellular response to hydrogen peroxide  cellular response to cAMP  cellular response to peptide hormone stimulus  DNA demethylation  RNA phosphodiester bond hydrolysis, endonucleolytic  telomere maintenance via base-excision repair  positive regulation of G1/S transition of mitotic cell cycle  
Ontology : EGO-EBItelomere maintenance  chromosome, telomeric region  DNA binding  damaged DNA binding  double-stranded telomeric DNA binding  transcription coactivator activity  transcription corepressor activity  RNA binding  DNA-(apurinic or apyrimidinic site) endonuclease activity  DNA-(apurinic or apyrimidinic site) endonuclease activity  DNA-(apurinic or apyrimidinic site) endonuclease activity  endonuclease activity  endodeoxyribonuclease activity  RNA-DNA hybrid ribonuclease activity  phosphodiesterase I activity  phosphodiesterase I activity  uracil DNA N-glycosylase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  nucleolus  cytoplasm  mitochondrion  endoplasmic reticulum  centrosome  ribosome  DNA repair  base-excision repair  base-excision repair  base-excision repair, base-free sugar-phosphate removal  base-excision repair, gap-filling  DNA recombination  aging  phosphoric diester hydrolase activity  double-stranded DNA exodeoxyribonuclease 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  response to drug  regulation of apoptotic process  regulation of mRNA stability  protein-containing complex binding  cell redox homeostasis  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  perinuclear region of cytoplasm  NF-kappaB binding  cellular response to hydrogen peroxide  cellular response to cAMP  cellular response to peptide hormone stimulus  DNA demethylation  RNA phosphodiester bond hydrolysis, endonucleolytic  telomere maintenance via base-excision repair  positive regulation of G1/S transition of mitotic cell cycle  
Pathways : BIOCARTAGranzyme A mediated Apoptosis Pathway [Genes]   
Pathways : KEGGBase excision repair   
NDEx NetworkAPEX1
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
Fusion : QuiverAPEX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPEX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APEX1
dbVarAPEX1
ClinVarAPEX1
MonarchAPEX1
1000_GenomesAPEX1 
Exome Variant ServerAPEX1
GNOMAD BrowserENSG00000100823
Varsome BrowserAPEX1
ACMGAPEX1 variants
VarityP27695
Genomic Variants (DGV)APEX1 [DGVbeta]
DECIPHERAPEX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPEX1 
Mutations
ICGC Data PortalAPEX1 
TCGA Data PortalAPEX1 
Broad Tumor PortalAPEX1
OASIS PortalAPEX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPEX1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAPEX1
Mutations and Diseases : HGMDAPEX1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAPEX1
DgiDB (Drug Gene Interaction Database)APEX1
DoCM (Curated mutations)APEX1
CIViC (Clinical Interpretations of Variants in Cancer)APEX1
Cancer3DAPEX1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107748   
Orphanet
DisGeNETAPEX1
MedgenAPEX1
Genetic Testing Registry APEX1
NextProtP27695 [Medical]
GENETestsAPEX1
Target ValidationAPEX1
Huge Navigator APEX1 [HugePedia]
ClinGenAPEX1
Clinical trials, drugs, therapy
MyCancerGenomeAPEX1
Protein Interactions : CTDAPEX1
Pharm GKB GenePA201059
PharosP27695
Clinical trialAPEX1
Miscellaneous
canSAR (ICR)APEX1
HarmonizomeAPEX1
ARCHS4APEX1
DataMed IndexAPEX1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAPEX1
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 : Mon Jan 17 15:14:49 CET 2022

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.