Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HES5 (hes family bHLH transcription factor 5)

Identity

Alias_nameshairy and enhancer of split 5 (Drosophila)
Alias_symbol (synonym)bHLHb38
Other alias
HGNC (Hugo) HES5
LocusID (NCBI) 388585
Atlas_Id 49998
Location 1p36.32  [Link to chromosome band 1p36]
Location_base_pair Starts at 2528745 and ends at 2530245 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)

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)HES5   19764
Cards
Entrez_Gene (NCBI)HES5  388585  hes family bHLH transcription factor 5
AliasesbHLHb38
GeneCards (Weizmann)HES5
Ensembl hg19 (Hinxton)ENSG00000197921 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197921 [Gene_View]  chr1:2528745-2530245 [Contig_View]  HES5 [Vega]
ICGC DataPortalENSG00000197921
TCGA cBioPortalHES5
AceView (NCBI)HES5
Genatlas (Paris)HES5
WikiGenes388585
SOURCE (Princeton)HES5
Genetics Home Reference (NIH)HES5
Genomic and cartography
GoldenPath hg38 (UCSC)HES5  -     chr1:2528745-2530245 -  1p36.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HES5  -     1p36.32   [Description]    (hg19-Feb_2009)
EnsemblHES5 - 1p36.32 [CytoView hg19]  HES5 - 1p36.32 [CytoView hg38]
Mapping of homologs : NCBIHES5 [Mapview hg19]  HES5 [Mapview hg38]
OMIM607348   
Gene and transcription
Genbank (Entrez)BC087840 BX104111 DQ272660
RefSeq transcript (Entrez)NM_001010926
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_187515
Consensus coding sequences : CCDS (NCBI)HES5
Cluster EST : UnigeneHs.57971 [ NCBI ]
CGAP (NCI)Hs.57971
Alternative Splicing GalleryENSG00000197921
Gene ExpressionHES5 [ NCBI-GEO ]   HES5 [ EBI - ARRAY_EXPRESS ]   HES5 [ SEEK ]   HES5 [ MEM ]
Gene Expression Viewer (FireBrowse)HES5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)388585
GTEX Portal (Tissue expression)HES5
Human Protein AtlasENSG00000197921-HES5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TA89   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TA89  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TA89
Splice isoforms : SwissVarQ5TA89
PhosPhoSitePlusQ5TA89
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)HES5
DMDM Disease mutations388585
Blocks (Seattle)HES5
SuperfamilyQ5TA89
Human Protein Atlas [tissue]ENSG00000197921-HES5 [tissue]
Peptide AtlasQ5TA89
HPRD16240
IPIIPI00373977   IPI00847865   
Protein Interaction databases
DIP (DOE-UCLA)Q5TA89
IntAct (EBI)Q5TA89
FunCoupENSG00000197921
BioGRIDHES5
STRING (EMBL)HES5
ZODIACHES5
Ontologies - Pathways
QuickGOQ5TA89
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  chondrocyte differentiation  chromatin binding  double-stranded DNA binding  cellular_component  nucleoplasm  transcription, DNA-templated  protein complex assembly  cell adhesion  Notch signaling pathway  Notch signaling pathway  smoothened signaling pathway  brain development  transcription factor binding  positive regulation of cell proliferation  oligodendrocyte development  telencephalon development  glial cell fate commitment  forebrain radial glial cell differentiation  neural tube development  central nervous system myelination  positive regulation of BMP signaling pathway  regulation of myelination  auditory receptor cell differentiation  auditory receptor cell fate determination  camera-type eye development  regulation of cell differentiation  regulation of auditory receptor cell differentiation  negative regulation of neuron differentiation  positive regulation of Notch signaling pathway  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of JAK-STAT cascade  protein dimerization activity  cell maturation  positive regulation of smooth muscle cell proliferation  astrocyte differentiation  negative regulation of astrocyte differentiation  negative regulation of oligodendrocyte differentiation  regulation of epithelial cell proliferation  regulation of neurogenesis  cartilage development  inner ear receptor stereocilium organization  comma-shaped body morphogenesis  S-shaped body morphogenesis  specification of loop of Henle identity  metanephric nephron tubule morphogenesis  establishment of epithelial cell polarity  neuronal stem cell population maintenance  negative regulation of stem cell differentiation  negative regulation of pro-B cell differentiation  negative regulation of forebrain neuron differentiation  negative regulation of inner ear receptor cell differentiation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  chondrocyte differentiation  chromatin binding  double-stranded DNA binding  cellular_component  nucleoplasm  transcription, DNA-templated  protein complex assembly  cell adhesion  Notch signaling pathway  Notch signaling pathway  smoothened signaling pathway  brain development  transcription factor binding  positive regulation of cell proliferation  oligodendrocyte development  telencephalon development  glial cell fate commitment  forebrain radial glial cell differentiation  neural tube development  central nervous system myelination  positive regulation of BMP signaling pathway  regulation of myelination  auditory receptor cell differentiation  auditory receptor cell fate determination  camera-type eye development  regulation of cell differentiation  regulation of auditory receptor cell differentiation  negative regulation of neuron differentiation  positive regulation of Notch signaling pathway  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of JAK-STAT cascade  protein dimerization activity  cell maturation  positive regulation of smooth muscle cell proliferation  astrocyte differentiation  negative regulation of astrocyte differentiation  negative regulation of oligodendrocyte differentiation  regulation of epithelial cell proliferation  regulation of neurogenesis  cartilage development  inner ear receptor stereocilium organization  comma-shaped body morphogenesis  S-shaped body morphogenesis  specification of loop of Henle identity  metanephric nephron tubule morphogenesis  establishment of epithelial cell polarity  neuronal stem cell population maintenance  negative regulation of stem cell differentiation  negative regulation of pro-B cell differentiation  negative regulation of forebrain neuron differentiation  negative regulation of inner ear receptor cell differentiation  
Pathways : KEGGNotch signaling pathway   
NDEx NetworkHES5
Atlas of Cancer Signalling NetworkHES5
Wikipedia pathwaysHES5
Orthology - Evolution
OrthoDB388585
GeneTree (enSembl)ENSG00000197921
Phylogenetic Trees/Animal Genes : TreeFamHES5
HOVERGENQ5TA89
HOGENOMQ5TA89
Homologs : HomoloGeneHES5
Homology/Alignments : Family Browser (UCSC)HES5
Gene fusions - Rearrangements
Tumor Fusion PortalHES5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHES5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HES5
dbVarHES5
ClinVarHES5
1000_GenomesHES5 
Exome Variant ServerHES5
ExAC (Exome Aggregation Consortium)ENSG00000197921
GNOMAD BrowserENSG00000197921
Genetic variants : HAPMAP388585
Genomic Variants (DGV)HES5 [DGVbeta]
DECIPHERHES5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHES5 
Mutations
ICGC Data PortalHES5 
TCGA Data PortalHES5 
Broad Tumor PortalHES5
OASIS PortalHES5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHES5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHES5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HES5
DgiDB (Drug Gene Interaction Database)HES5
DoCM (Curated mutations)HES5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HES5 (select a term)
intoGenHES5
Cancer3DHES5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607348   
Orphanet
DisGeNETHES5
MedgenHES5
Genetic Testing Registry HES5
NextProtQ5TA89 [Medical]
TSGene388585
GENETestsHES5
Target ValidationHES5
Huge Navigator HES5 [HugePedia]
snp3D : Map Gene to Disease388585
BioCentury BCIQHES5
ClinGenHES5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD388585
Chemical/Pharm GKB GenePA134967985
Clinical trialHES5
Miscellaneous
canSAR (ICR)HES5 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHES5
EVEXHES5
GoPubMedHES5
iHOPHES5
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 21 14:16:01 CET 2017

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