Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ZEB1 (zinc finger E-box binding homeobox 1)

Identity

Alias_namesTCF8
PPCD3
transcription factor 8 (represses interleukin 2 expression)
posterior polymorphous corneal dystrophy 3
Alias_symbol (synonym)BZP
ZEB
AREB6
NIL-2-A
Zfhep
Zfhx1a
FECD6
Other aliasDELTAEF1
NIL2A
ZFHEP
ZFHX1A
HGNC (Hugo) ZEB1
LocusID (NCBI) 6935
Atlas_Id 46166
Location 10p11.22  [Link to chromosome band 10p11]
Location_base_pair Starts at 31319172 and ends at 31529814 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)
ACBD5 (10p12.1) / ZEB1 (10p11.22)ECT2L (6q24.1) / ZEB1 (10p11.22)EPC1 (10p11.22) / ZEB1 (10p11.22)
MIR548N (2q31.2) / ZEB1 (10p11.22)RAB31 (18p11.22) / ZEB1 (10p11.22)ZEB1 (10p11.22) / BMI1 (10p12.2)
ZEB1 (10p11.22) / SIK1 (21q22.3)ZEB1 (10p11.22) / WAC (10p12.1)ZEB1 (10p11.22) / ZEB1 (10p11.22)
ZEB1 (10p11.22) / ZNF438 (10p11.23)

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;10)(p11;p12) ZEB1/BMI1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  inv(10)(p11p12) ACBD5/ZEB1

External links

Nomenclature
HGNC (Hugo)ZEB1   11642
Cards
Entrez_Gene (NCBI)ZEB1  6935  zinc finger E-box binding homeobox 1
AliasesAREB6; BZP; DELTAEF1; FECD6; 
NIL2A; PPCD3; TCF8; ZFHEP; ZFHX1A
GeneCards (Weizmann)ZEB1
Ensembl hg19 (Hinxton)ENSG00000148516 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000148516 [Gene_View]  ENSG00000148516 [Sequence]  chr10:31319172-31529814 [Contig_View]  ZEB1 [Vega]
ICGC DataPortalENSG00000148516
TCGA cBioPortalZEB1
AceView (NCBI)ZEB1
Genatlas (Paris)ZEB1
WikiGenes6935
SOURCE (Princeton)ZEB1
Genetics Home Reference (NIH)ZEB1
Genomic and cartography
GoldenPath hg38 (UCSC)ZEB1  -     chr10:31319172-31529814 +  10p11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ZEB1  -     10p11.22   [Description]    (hg19-Feb_2009)
EnsemblZEB1 - 10p11.22 [CytoView hg19]  ZEB1 - 10p11.22 [CytoView hg38]
Mapping of homologs : NCBIZEB1 [Mapview hg19]  ZEB1 [Mapview hg38]
OMIM189909   609141   613270   
Gene and transcription
Genbank (Entrez)AI086650 AK091478 AK294775 AK296244 AK299541
RefSeq transcript (Entrez)NM_001128128 NM_001174093 NM_001174094 NM_001174095 NM_001174096 NM_001323638 NM_001323641 NM_001323642 NM_001323643 NM_001323644 NM_001323645 NM_001323646 NM_001323647 NM_001323648 NM_001323649 NM_001323650 NM_001323651 NM_001323652 NM_001323653 NM_001323654 NM_001323655 NM_001323656 NM_001323657 NM_001323658 NM_001323659 NM_001323660 NM_001323661 NM_001323662 NM_001323663 NM_001323664 NM_001323665 NM_001323666 NM_001323671 NM_001323672 NM_001323673 NM_001323674 NM_001323675 NM_001323676 NM_001323677 NM_001323678 NM_030751
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ZEB1
Cluster EST : UnigeneHs.124503 [ NCBI ]
CGAP (NCI)Hs.124503
Alternative Splicing GalleryENSG00000148516
Gene ExpressionZEB1 [ NCBI-GEO ]   ZEB1 [ EBI - ARRAY_EXPRESS ]   ZEB1 [ SEEK ]   ZEB1 [ MEM ]
Gene Expression Viewer (FireBrowse)ZEB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6935
GTEX Portal (Tissue expression)ZEB1
Human Protein AtlasENSG00000148516-ZEB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP37275   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP37275  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP37275
Splice isoforms : SwissVarP37275
PhosPhoSitePlusP37275
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)Di19_Zn_binding_dom    Homeobox-like_sf    Homeobox_dom    Znf_C2H2_sf    Znf_C2H2_type   
Domain families : Pfam (Sanger)Homeobox (PF00046)    zf-Di19 (PF05605)   
Domain families : Pfam (NCBI)pfam00046    pfam05605   
Domain families : Smart (EMBL)HOX (SM00389)  ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)ZEB1
DMDM Disease mutations6935
Blocks (Seattle)ZEB1
PDB (SRS)2E+19   
PDB (PDBSum)2E+19   
PDB (IMB)2E+19   
PDB (RSDB)2E+19   
Structural Biology KnowledgeBase2E+19   
SCOP (Structural Classification of Proteins)2E+19   
CATH (Classification of proteins structures)2E+19   
SuperfamilyP37275
Human Protein Atlas [tissue]ENSG00000148516-ZEB1 [tissue]
Peptide AtlasP37275
HPRD01798
IPIIPI00375505   IPI00909527   IPI01015365   IPI01009961   IPI01014891   IPI01009478   IPI00942556   IPI00956719   IPI00956700   IPI00477152   IPI00514481   
Protein Interaction databases
DIP (DOE-UCLA)P37275
IntAct (EBI)P37275
FunCoupENSG00000148516
BioGRIDZEB1
STRING (EMBL)ZEB1
ZODIACZEB1
Ontologies - Pathways
QuickGOP37275
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  chromatin binding  DNA-binding transcription factor activity  transcription coactivator activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytosol  regulation of transcription by RNA polymerase II  immune response  pattern specification process  central nervous system development  transcription factor binding  zinc ion binding  cell proliferation  negative regulation of cell proliferation  regulation of mesenchymal cell proliferation  regulation of transforming growth factor beta receptor signaling pathway  cytokine-mediated signaling pathway  regulation of T cell differentiation in thymus  negative regulation of endothelial cell differentiation  positive regulation of neuron differentiation  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  embryonic camera-type eye morphogenesis  embryonic skeletal system morphogenesis  semicircular canal morphogenesis  regulation of smooth muscle cell differentiation  cartilage development  E-box binding  cellular response to amino acid stimulus  cochlea morphogenesis  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  chromatin binding  DNA-binding transcription factor activity  transcription coactivator activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytosol  regulation of transcription by RNA polymerase II  immune response  pattern specification process  central nervous system development  transcription factor binding  zinc ion binding  cell proliferation  negative regulation of cell proliferation  regulation of mesenchymal cell proliferation  regulation of transforming growth factor beta receptor signaling pathway  cytokine-mediated signaling pathway  regulation of T cell differentiation in thymus  negative regulation of endothelial cell differentiation  positive regulation of neuron differentiation  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  embryonic camera-type eye morphogenesis  embryonic skeletal system morphogenesis  semicircular canal morphogenesis  regulation of smooth muscle cell differentiation  cartilage development  E-box binding  cellular response to amino acid stimulus  cochlea morphogenesis  
Pathways : KEGGTranscriptional misregulation in cancer    MicroRNAs in cancer   
NDEx NetworkZEB1
Atlas of Cancer Signalling NetworkZEB1
Wikipedia pathwaysZEB1
Orthology - Evolution
OrthoDB6935
GeneTree (enSembl)ENSG00000148516
Phylogenetic Trees/Animal Genes : TreeFamZEB1
HOVERGENP37275
HOGENOMP37275
Homologs : HomoloGeneZEB1
Homology/Alignments : Family Browser (UCSC)ZEB1
Gene fusions - Rearrangements
Fusion : MitelmanZEB1/BMI1 [10p11.22/10p12.2]  
Fusion : QuiverZEB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZEB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZEB1
dbVarZEB1
ClinVarZEB1
1000_GenomesZEB1 
Exome Variant ServerZEB1
ExAC (Exome Aggregation Consortium)ENSG00000148516
GNOMAD BrowserENSG00000148516
Varsome BrowserZEB1
Genetic variants : HAPMAP6935
Genomic Variants (DGV)ZEB1 [DGVbeta]
DECIPHERZEB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisZEB1 
Mutations
ICGC Data PortalZEB1 
TCGA Data PortalZEB1 
Broad Tumor PortalZEB1
OASIS PortalZEB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICZEB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDZEB1
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 ZEB1
DgiDB (Drug Gene Interaction Database)ZEB1
DoCM (Curated mutations)ZEB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ZEB1 (select a term)
intoGenZEB1
Cancer3DZEB1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM189909    609141    613270   
Orphanet13990    13991   
DisGeNETZEB1
MedgenZEB1
Genetic Testing Registry ZEB1
NextProtP37275 [Medical]
TSGene6935
GENETestsZEB1
Target ValidationZEB1
Huge Navigator ZEB1 [HugePedia]
snp3D : Map Gene to Disease6935
BioCentury BCIQZEB1
ClinGenZEB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6935
Chemical/Pharm GKB GenePA162409589
Clinical trialZEB1
Miscellaneous
canSAR (ICR)ZEB1 (select the gene name)
Probes
Litterature
PubMed367 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineZEB1
EVEXZEB1
GoPubMedZEB1
iHOPZEB1
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 : Tue Nov 6 11:50:55 CET 2018
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