Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HEY1 (hes related family bHLH transcription factor with YRPW motif 1)

Identity

Alias_nameshairy/enhancer-of-split related with YRPW motif 1
hes-related family bHLH transcription factor with YRPW motif 1
Alias_symbol (synonym)HESR-1
CHF2
HESR1
HRT-1
CHF-2
HERP2
bHLHb31
Other aliasBHLHb31
OAF1
hHRT1
HGNC (Hugo) HEY1
LocusID (NCBI) 23462
Atlas_Id 43746
Location 8q21.13  [Link to chromosome band 8q21]
Location_base_pair Starts at 80676245 and ends at 80680098 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HEY1 (8q21.13) / NCOA2 (8q13.3)NCOA2 (8q13.3) / HEY1 (8q21.13)SNHG5 (6q14.3) / HEY1 (8q21.13)
HEY1 8q21.13 / NCOA2 8q13.3

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Soft tissue tumors: an overview


External links

Nomenclature
HGNC (Hugo)HEY1   4880
Cards
Entrez_Gene (NCBI)HEY1  23462  hes related family bHLH transcription factor with YRPW motif 1
AliasesBHLHb31; CHF2; HERP2; HESR1; 
HRT-1; OAF1; hHRT1
GeneCards (Weizmann)HEY1
Ensembl hg19 (Hinxton)ENSG00000164683 [Gene_View]  chr8:80676245-80680098 [Contig_View]  HEY1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164683 [Gene_View]  chr8:80676245-80680098 [Contig_View]  HEY1 [Vega]
ICGC DataPortalENSG00000164683
TCGA cBioPortalHEY1
AceView (NCBI)HEY1
Genatlas (Paris)HEY1
WikiGenes23462
SOURCE (Princeton)HEY1
Genetics Home Reference (NIH)HEY1
Genomic and cartography
GoldenPath hg19 (UCSC)HEY1  -     chr8:80676245-80680098 -  8q21.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HEY1  -     8q21.13   [Description]    (hg38-Dec_2013)
EnsemblHEY1 - 8q21.13 [CytoView hg19]  HEY1 - 8q21.13 [CytoView hg38]
Mapping of homologs : NCBIHEY1 [Mapview hg19]  HEY1 [Mapview hg38]
OMIM602953   
Gene and transcription
Genbank (Entrez)AF151522 AF176422 AF232239 AF254637 AF311883
RefSeq transcript (Entrez)NM_001040708 NM_001282851 NM_012258
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)HEY1
Cluster EST : UnigeneHs.234434 [ NCBI ]
CGAP (NCI)Hs.234434
Alternative Splicing GalleryENSG00000164683
Gene ExpressionHEY1 [ NCBI-GEO ]   HEY1 [ EBI - ARRAY_EXPRESS ]   HEY1 [ SEEK ]   HEY1 [ MEM ]
Gene Expression Viewer (FireBrowse)HEY1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23462
GTEX Portal (Tissue expression)HEY1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5J3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5J3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5J3
Splice isoforms : SwissVarQ9Y5J3
PhosPhoSitePlusQ9Y5J3
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    ORANGE (PS51054)   
Domains : Interpro (EBI)bHLH_dom    Orange_dom   
Domain families : Pfam (Sanger)Hairy_orange (PF07527)    HLH (PF00010)   
Domain families : Pfam (NCBI)pfam07527    pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  ORANGE (SM00511)  
Conserved Domain (NCBI)HEY1
DMDM Disease mutations23462
Blocks (Seattle)HEY1
PDB (SRS)2DB7   
PDB (PDBSum)2DB7   
PDB (IMB)2DB7   
PDB (RSDB)2DB7   
Structural Biology KnowledgeBase2DB7   
SCOP (Structural Classification of Proteins)2DB7   
CATH (Classification of proteins structures)2DB7   
SuperfamilyQ9Y5J3
Human Protein AtlasENSG00000164683
Peptide AtlasQ9Y5J3
HPRD04260
IPIIPI00742738   IPI00550054   IPI00910454   IPI00979760   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5J3
IntAct (EBI)Q9Y5J3
FunCoupENSG00000164683
BioGRIDHEY1
STRING (EMBL)HEY1
ZODIACHEY1
Ontologies - Pathways
QuickGOQ9Y5J3
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  transcription factor activity, RNA polymerase II core promoter sequence-specific  transcription factor activity, protein binding  angiogenesis  pulmonary valve morphogenesis  atrioventricular valve formation  epithelial to mesenchymal transition involved in endocardial cushion formation  endocardial cushion morphogenesis  cardiac ventricle morphogenesis  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  Notch signaling pathway  transcription factor binding  dorsal aorta morphogenesis  microsatellite binding  umbilical cord morphogenesis  negative regulation of Notch signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  cardiac epithelial to mesenchymal transition  heart trabecula formation  cardiac septum morphogenesis  ventricular septum morphogenesis  labyrinthine layer blood vessel development  arterial endothelial cell differentiation  Notch signaling involved in heart development  cellular response to glucocorticoid stimulus  negative regulation of transcription regulatory region DNA binding  negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation  regulation of vasculogenesis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  transcription factor activity, RNA polymerase II core promoter sequence-specific  transcription factor activity, protein binding  angiogenesis  pulmonary valve morphogenesis  atrioventricular valve formation  epithelial to mesenchymal transition involved in endocardial cushion formation  endocardial cushion morphogenesis  cardiac ventricle morphogenesis  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  Notch signaling pathway  transcription factor binding  dorsal aorta morphogenesis  microsatellite binding  umbilical cord morphogenesis  negative regulation of Notch signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  cardiac epithelial to mesenchymal transition  heart trabecula formation  cardiac septum morphogenesis  ventricular septum morphogenesis  labyrinthine layer blood vessel development  arterial endothelial cell differentiation  Notch signaling involved in heart development  cellular response to glucocorticoid stimulus  negative regulation of transcription regulatory region DNA binding  negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation  regulation of vasculogenesis  
NDEx NetworkHEY1
Atlas of Cancer Signalling NetworkHEY1
Wikipedia pathwaysHEY1
Orthology - Evolution
OrthoDB23462
GeneTree (enSembl)ENSG00000164683
Phylogenetic Trees/Animal Genes : TreeFamHEY1
HOVERGENQ9Y5J3
HOGENOMQ9Y5J3
Homologs : HomoloGeneHEY1
Homology/Alignments : Family Browser (UCSC)HEY1
Gene fusions - Rearrangements
Fusion : MitelmanHEY1/NCOA2 [8q21.13/8q13.3]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEY1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEY1
dbVarHEY1
ClinVarHEY1
1000_GenomesHEY1 
Exome Variant ServerHEY1
ExAC (Exome Aggregation Consortium)HEY1 (select the gene name)
Genetic variants : HAPMAP23462
Genomic Variants (DGV)HEY1 [DGVbeta]
DECIPHER (Syndromes)8:80676245-80680098  ENSG00000164683
CONAN: Copy Number AnalysisHEY1 
Mutations
ICGC Data PortalHEY1 
TCGA Data PortalHEY1 
Broad Tumor PortalHEY1
OASIS PortalHEY1 [ Somatic mutations - Copy number]
Cancer Gene: CensusHEY1 
Somatic Mutations in Cancer : COSMICHEY1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEY1
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 HEY1
DgiDB (Drug Gene Interaction Database)HEY1
DoCM (Curated mutations)HEY1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEY1 (select a term)
intoGenHEY1
Cancer3DHEY1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602953   
Orphanet
MedgenHEY1
Genetic Testing Registry HEY1
NextProtQ9Y5J3 [Medical]
TSGene23462
GENETestsHEY1
Huge Navigator HEY1 [HugePedia]
snp3D : Map Gene to Disease23462
BioCentury BCIQHEY1
ClinGenHEY1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23462
Chemical/Pharm GKB GenePA29258
Clinical trialHEY1
Miscellaneous
canSAR (ICR)HEY1 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEY1
EVEXHEY1
GoPubMedHEY1
iHOPHEY1
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 : Thu Mar 30 15:03:40 CEST 2017

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