Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HEYL (hes related family bHLH transcription factor with YRPW motif-like)

Identity

Alias_nameshairy/enhancer-of-split related with YRPW motif-like
hes-related family bHLH transcription factor with YRPW motif-like
Alias_symbol (synonym)bHLHb33
HEY3
HESR3
Other aliasHRT3
HGNC (Hugo) HEYL
LocusID (NCBI) 26508
Atlas_Id 54359
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 39623431 and ends at 39639676 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CTNNA1 (5q31.2) / HEYL (1p34.3)HEYL (1p34.3) / COL9A2 (1p34.2)HEYL (1p34.3) / ENTPD6 (20p11.21)
HEYL (1p34.3) / MORC4 (Xq22.3)TOX3 (16q12.1) / HEYL (1p34.3)HEYL 1p34.3 / COL9A2 1p34.2
TOX3 16q12.1 / HEYL 1p34.3

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 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)HEYL   4882
Cards
Entrez_Gene (NCBI)HEYL  26508  hes related family bHLH transcription factor with YRPW motif-like
AliasesHESR3; HEY3; HRT3; bHLHb33
GeneCards (Weizmann)HEYL
Ensembl hg19 (Hinxton)ENSG00000163909 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163909 [Gene_View]  chr1:39623431-39639676 [Contig_View]  HEYL [Vega]
ICGC DataPortalENSG00000163909
TCGA cBioPortalHEYL
AceView (NCBI)HEYL
Genatlas (Paris)HEYL
WikiGenes26508
SOURCE (Princeton)HEYL
Genetics Home Reference (NIH)HEYL
Genomic and cartography
GoldenPath hg38 (UCSC)HEYL  -     chr1:39623431-39639676 -  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HEYL  -     1p34.2   [Description]    (hg19-Feb_2009)
EnsemblHEYL - 1p34.2 [CytoView hg19]  HEYL - 1p34.2 [CytoView hg38]
Mapping of homologs : NCBIHEYL [Mapview hg19]  HEYL [Mapview hg38]
OMIM609034   
Gene and transcription
Genbank (Entrez)AF311885 AJ272215 AK300463 AL541019 BC006087
RefSeq transcript (Entrez)NM_014571
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HEYL
Cluster EST : UnigeneHs.472566 [ NCBI ]
CGAP (NCI)Hs.472566
Alternative Splicing GalleryENSG00000163909
Gene ExpressionHEYL [ NCBI-GEO ]   HEYL [ EBI - ARRAY_EXPRESS ]   HEYL [ SEEK ]   HEYL [ MEM ]
Gene Expression Viewer (FireBrowse)HEYL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26508
GTEX Portal (Tissue expression)HEYL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQ87   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQ87  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQ87
Splice isoforms : SwissVarQ9NQ87
PhosPhoSitePlusQ9NQ87
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)HEYL
DMDM Disease mutations26508
Blocks (Seattle)HEYL
SuperfamilyQ9NQ87
Human Protein AtlasENSG00000163909
Peptide AtlasQ9NQ87
HPRD16419
IPIIPI00005137   IPI01010022   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQ87
IntAct (EBI)Q9NQ87
FunCoupENSG00000163909
BioGRIDHEYL
STRING (EMBL)HEYL
ZODIACHEYL
Ontologies - Pathways
QuickGOQ9NQ87
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific  transcription factor activity, protein binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription corepressor activity  outflow tract morphogenesis  atrioventricular valve morphogenesis  pulmonary valve morphogenesis  epithelial to mesenchymal transition involved in endocardial cushion formation  endocardial cushion morphogenesis  cardiac ventricle morphogenesis  transcription factor activity, sequence-specific DNA binding  transcription corepressor activity  protein binding  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  Notch signaling pathway  transcription factor binding  mesenchymal cell development  glomerulus development  skeletal muscle cell differentiation  microsatellite binding  protein homodimerization activity  positive regulation of neuron differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  AF-1 domain binding  cardiac epithelial to mesenchymal transition  ventricular septum morphogenesis  negative regulation of androgen receptor signaling pathway  cellular response to BMP stimulus  proximal tubule development  negative regulation of androgen receptor activity  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific  transcription factor activity, protein binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription corepressor activity  outflow tract morphogenesis  atrioventricular valve morphogenesis  pulmonary valve morphogenesis  epithelial to mesenchymal transition involved in endocardial cushion formation  endocardial cushion morphogenesis  cardiac ventricle morphogenesis  transcription factor activity, sequence-specific DNA binding  transcription corepressor activity  protein binding  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  Notch signaling pathway  transcription factor binding  mesenchymal cell development  glomerulus development  skeletal muscle cell differentiation  microsatellite binding  protein homodimerization activity  positive regulation of neuron differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  AF-1 domain binding  cardiac epithelial to mesenchymal transition  ventricular septum morphogenesis  negative regulation of androgen receptor signaling pathway  cellular response to BMP stimulus  proximal tubule development  negative regulation of androgen receptor activity  
NDEx NetworkHEYL
Atlas of Cancer Signalling NetworkHEYL
Wikipedia pathwaysHEYL
Orthology - Evolution
OrthoDB26508
GeneTree (enSembl)ENSG00000163909
Phylogenetic Trees/Animal Genes : TreeFamHEYL
HOVERGENQ9NQ87
HOGENOMQ9NQ87
Homologs : HomoloGeneHEYL
Homology/Alignments : Family Browser (UCSC)HEYL
Gene fusions - Rearrangements
Fusion : MitelmanCTNNA1/HEYL [5q31.2/1p34.3]  [t(1;5)(p34;q31)]  
Fusion : MitelmanHEYL/COL9A2 [1p34.3/1p34.2]  [t(1;1)(p34;p34)]  
Fusion : MitelmanTOX3/HEYL [16q12.1/1p34.3]  [t(1;16)(p34;q12)]  
Fusion: TCGAHEYL 1p34.3 COL9A2 1p34.2 BRCA
Fusion: TCGATOX3 16q12.1 HEYL 1p34.3 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEYL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEYL
dbVarHEYL
ClinVarHEYL
1000_GenomesHEYL 
Exome Variant ServerHEYL
ExAC (Exome Aggregation Consortium)HEYL (select the gene name)
Genetic variants : HAPMAP26508
Genomic Variants (DGV)HEYL [DGVbeta]
DECIPHERHEYL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHEYL 
Mutations
ICGC Data PortalHEYL 
TCGA Data PortalHEYL 
Broad Tumor PortalHEYL
OASIS PortalHEYL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEYL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEYL
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 HEYL
DgiDB (Drug Gene Interaction Database)HEYL
DoCM (Curated mutations)HEYL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEYL (select a term)
intoGenHEYL
Cancer3DHEYL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609034   
Orphanet
MedgenHEYL
Genetic Testing Registry HEYL
NextProtQ9NQ87 [Medical]
TSGene26508
GENETestsHEYL
Huge Navigator HEYL [HugePedia]
snp3D : Map Gene to Disease26508
BioCentury BCIQHEYL
ClinGenHEYL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26508
Chemical/Pharm GKB GenePA29260
Clinical trialHEYL
Miscellaneous
canSAR (ICR)HEYL (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEYL
EVEXHEYL
GoPubMedHEYL
iHOPHEYL
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 : Fri May 19 12:18:42 CEST 2017

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