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

DEK (DEK proto-oncogene)

Written1998-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesDEK oncogene (DNA binding)
DEK oncogene
Alias_symbol (synonym)D6S231E
Other alias
HGNC (Hugo) DEK
LocusID (NCBI) 7913
Atlas_Id 23
Location 6p22.3  [Link to chromosome band 6p22]
Location_base_pair Starts at 18224169 and ends at 18264568 bp from pter ( according to hg19-Feb_2009)  [Mapping DEK.png]
 
  DEK (6p23) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CABIN1 (22q11.23) / DEK (6p22.3)DEK (6p22.3) / CABIN1 (22q11.23)DEK (6p22.3) / CD164 (6q21)
DEK (6p22.3) / DEK (6p22.3)DEK (6p22.3) / EIF5B (2q11.2)DEK (6p22.3) / NUP214 (9q34.13)
EYS (6q12) / DEK (6p22.3)GRN (17q21.31) / DEK (6p22.3)LUC7L3 (17q21.33) / DEK (6p22.3)
NUP214 (9q34.13) / DEK (6p22.3)STAU2 (8q21.11) / DEK (6p22.3)

DNA/RNA

Description spans on a 40 kb genomic segment
Transcription 2.7 kb mRNA; coding sequence: 1.1 kb

Protein

Description 375 amino acids; 43 kDa; contains numerous acidic domains (Asp/Glu rich) and a nuclear localisation signal
Expression wide
Localisation potentially nuclear
Function site specific DNA binding protein involved in transcriptional regulation and signal transduction

Implicated in

Note
  
Entity t(6;9)(p23;q34)/AML or MDS --> DEK-CAN
Disease M2, M4 AML or MDS
Prognosis remission difficult to obtain
Cytogenetics this chromosome anomaly may be over loocked
Hybrid/Mutated Gene 5' DEK - 3' CAN; chromosome 6 breakpoint clusters in a single intron
Abnormal Protein head to tail DEK/CAN fusion protein (the alternative SET/CAN is exceptional); almost the entire DEK protein fused to the C-terminal two-thirds of the CAN protein; nuclear localization
  

Bibliography

Interaction of cellular proteins with the leukemia specific fusion proteins DEK-CAN and SET-CAN and their normal counterpart, the nucleoporin CAN.
Fornerod M, Boer J, van Baal S, Morreau H, Grosveld G
Oncogene. 1996 ; 13 (8) : 1801-1808.
PMID 8895527
 
DEK, an autoantigen involved in a chromosomal translocation in acute myelogenous leukemia, binds to the HIV-2 enhancer.
Fu GK, Grosveld G, Markovitz DM
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (5) : 1811-1815.
PMID 9050861
 
The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA.
von Lindern M, Fornerod M, van Baal S, Jaegle M, de Wit T, Buijs A, Grosveld G
Molecular and cellular biology. 1992 ; 12 (4) : 1687-1697.
PMID 1549122
 

Citation

This paper should be referenced as such :
Jean-Loup Huret
DEK (DEK oncogene)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):5-5.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/DEKID23.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  NUP214/ABL1 fusion gene on amplified episomes
Classification of myelodysplastic syndromes 2015
t(6;9)(p22;q34) DEK/NUP214
t(6;9)(p22;q34) DEK/NUP214 in Childhood


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Head and neck: Retinoblastoma
Eye: Retinoma
Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)DEK   2768
Cards
AtlasDEKID23
Entrez_Gene (NCBI)DEK  7913  DEK proto-oncogene
AliasesD6S231E
GeneCards (Weizmann)DEK
Ensembl hg19 (Hinxton)ENSG00000124795 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124795 [Gene_View]  chr6:18224169-18264568 [Contig_View]  DEK [Vega]
ICGC DataPortalENSG00000124795
TCGA cBioPortalDEK
AceView (NCBI)DEK
Genatlas (Paris)DEK
WikiGenes7913
SOURCE (Princeton)DEK
Genetics Home Reference (NIH)DEK
Genomic and cartography
GoldenPath hg38 (UCSC)DEK  -     chr6:18224169-18264568 -  6p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEK  -     6p22.3   [Description]    (hg19-Feb_2009)
EnsemblDEK - 6p22.3 [CytoView hg19]  DEK - 6p22.3 [CytoView hg38]
Mapping of homologs : NCBIDEK [Mapview hg19]  DEK [Mapview hg38]
OMIM125264   
Gene and transcription
Genbank (Entrez)AJ270688 AJ420539 AK294079 AK297749 AK298089
RefSeq transcript (Entrez)NM_001134709 NM_003472
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEK
Cluster EST : UnigeneHs.484813 [ NCBI ]
CGAP (NCI)Hs.484813
Alternative Splicing GalleryENSG00000124795
Gene ExpressionDEK [ NCBI-GEO ]   DEK [ EBI - ARRAY_EXPRESS ]   DEK [ SEEK ]   DEK [ MEM ]
Gene Expression Viewer (FireBrowse)DEK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7913
GTEX Portal (Tissue expression)DEK
Human Protein AtlasENSG00000124795-DEK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35659   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35659  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35659
Splice isoforms : SwissVarP35659
PhosPhoSitePlusP35659
Domains : Interpro (EBI)DEK_C    Homeobox-like    SAP_dom   
Domain families : Pfam (Sanger)DEK_C (PF08766)   
Domain families : Pfam (NCBI)pfam08766   
Domain families : Smart (EMBL)SAP (SM00513)  
Conserved Domain (NCBI)DEK
DMDM Disease mutations7913
Blocks (Seattle)DEK
PDB (SRS)1Q1V    2JX3   
PDB (PDBSum)1Q1V    2JX3   
PDB (IMB)1Q1V    2JX3   
PDB (RSDB)1Q1V    2JX3   
Structural Biology KnowledgeBase1Q1V    2JX3   
SCOP (Structural Classification of Proteins)1Q1V    2JX3   
CATH (Classification of proteins structures)1Q1V    2JX3   
SuperfamilyP35659
Human Protein Atlas [tissue]ENSG00000124795-DEK [tissue]
Peptide AtlasP35659
HPRD00503
IPIIPI00020021   IPI00425937   IPI00942944   IPI00909779   IPI00967473   IPI00968273   IPI00966422   
Protein Interaction databases
DIP (DOE-UCLA)P35659
IntAct (EBI)P35659
FunCoupENSG00000124795
BioGRIDDEK
STRING (EMBL)DEK
ZODIACDEK
Ontologies - Pathways
QuickGOP35659
Ontology : AmiGODNA binding  chromatin binding  RNA binding  nucleus  nucleoplasm  chromatin remodeling  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  signal transduction  covalent chromatin modification  viral genome replication  histone binding  contractile fiber  positive regulation of gene expression, epigenetic  regulation of double-strand break repair  regulation of double-strand break repair via nonhomologous end joining  
Ontology : EGO-EBIDNA binding  chromatin binding  RNA binding  nucleus  nucleoplasm  chromatin remodeling  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  signal transduction  covalent chromatin modification  viral genome replication  histone binding  contractile fiber  positive regulation of gene expression, epigenetic  regulation of double-strand break repair  regulation of double-strand break repair via nonhomologous end joining  
REACTOMEP35659 [protein]
REACTOME PathwaysR-HSA-8864260 [pathway]   
NDEx NetworkDEK
Atlas of Cancer Signalling NetworkDEK
Wikipedia pathwaysDEK
Orthology - Evolution
OrthoDB7913
GeneTree (enSembl)ENSG00000124795
Phylogenetic Trees/Animal Genes : TreeFamDEK
HOVERGENP35659
HOGENOMP35659
Homologs : HomoloGeneDEK
Homology/Alignments : Family Browser (UCSC)DEK
Gene fusions - Rearrangements
Fusion : MitelmanDEK/NUP214 [6p22.3/9q34.13]  
Fusion : MitelmanEYS/DEK [6q12/6p22.3]  [t(6;6)(p22;q12)]  
Fusion : TICdbNUP214 [9q34.13]  -  DEK [6p22.3]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEK
dbVarDEK
ClinVarDEK
1000_GenomesDEK 
Exome Variant ServerDEK
ExAC (Exome Aggregation Consortium)ENSG00000124795
GNOMAD BrowserENSG00000124795
Genetic variants : HAPMAP7913
Genomic Variants (DGV)DEK [DGVbeta]
DECIPHERDEK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEK 
Mutations
ICGC Data PortalDEK 
TCGA Data PortalDEK 
Broad Tumor PortalDEK
OASIS PortalDEK [ Somatic mutations - Copy number]
Cancer Gene: CensusDEK 
Somatic Mutations in Cancer : COSMICDEK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEK
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 DEK
DgiDB (Drug Gene Interaction Database)DEK
DoCM (Curated mutations)DEK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEK (select a term)
intoGenDEK
NCG5 (London)DEK
Cancer3DDEK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125264   
Orphanet22869   
MedgenDEK
Genetic Testing Registry DEK
NextProtP35659 [Medical]
TSGene7913
GENETestsDEK
Target ValidationDEK
Huge Navigator DEK [HugePedia]
snp3D : Map Gene to Disease7913
BioCentury BCIQDEK
ClinGenDEK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7913
Chemical/Pharm GKB GenePA27251
Clinical trialDEK
Miscellaneous
canSAR (ICR)DEK (select the gene name)
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEK
EVEXDEK
GoPubMedDEK
iHOPDEK
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 : Thu Oct 12 16:20:13 CEST 2017

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.