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HELT (helt bHLH transcription factor)

Identity

Alias_namesHey-like transcription factor (zebrafish)
HES/HEY-like transcription factor
Alias_symbol (synonym)HESL
HCM1228
Mgn
bHLHb44
MEGANE
Other alias
HGNC (Hugo) HELT
LocusID (NCBI) 391723
Atlas_Id 47063
Location 4q35.1  [Link to chromosome band 4q35]
Location_base_pair Starts at 185018841 and ends at 185020804 bp from pter ( according to hg38-Dec_2013)

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)HELT   33783
Cards
Entrez_Gene (NCBI)HELT  391723  helt bHLH transcription factor
AliasesHCM1228; HESL; Mgn; bHLHb44
GeneCards (Weizmann)HELT
Ensembl hg19 (Hinxton)ENSG00000187821 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187821 [Gene_View]  chr4:185018841-185020804 [Contig_View]  HELT [Vega]
ICGC DataPortalENSG00000187821
TCGA cBioPortalHELT
AceView (NCBI)HELT
Genatlas (Paris)HELT
WikiGenes391723
SOURCE (Princeton)HELT
Genetics Home Reference (NIH)HELT
Genomic and cartography
GoldenPath hg38 (UCSC)HELT  -     chr4:185018841-185020804 +  4q35.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HELT  -     4q35.1   [Description]    (hg19-Feb_2009)
EnsemblHELT - 4q35.1 [CytoView hg19]  HELT - 4q35.1 [CytoView hg38]
Mapping of homologs : NCBIHELT [Mapview hg19]  HELT [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC140795 BC144567 BC144568 BC144569 BC160136
RefSeq transcript (Entrez)NM_001029887 NM_001300781 NM_001300782
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HELT
Cluster EST : UnigeneHs.531242 [ NCBI ]
CGAP (NCI)Hs.531242
Alternative Splicing GalleryENSG00000187821
Gene ExpressionHELT [ NCBI-GEO ]   HELT [ EBI - ARRAY_EXPRESS ]   HELT [ SEEK ]   HELT [ MEM ]
Gene Expression Viewer (FireBrowse)HELT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)391723
GTEX Portal (Tissue expression)HELT
Protein : pattern, domain, 3D structure
UniProt/SwissProtA6NFD8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA6NFD8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA6NFD8
Splice isoforms : SwissVarA6NFD8
PhosPhoSitePlusA6NFD8
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)  
Conserved Domain (NCBI)HELT
DMDM Disease mutations391723
Blocks (Seattle)HELT
SuperfamilyA6NFD8
Human Protein AtlasENSG00000187821
Peptide AtlasA6NFD8
IPIIPI00398093   IPI00896528   IPI00963904   
Protein Interaction databases
DIP (DOE-UCLA)A6NFD8
IntAct (EBI)A6NFD8
FunCoupENSG00000187821
BioGRIDHELT
STRING (EMBL)HELT
ZODIACHELT
Ontologies - Pathways
QuickGOA6NFD8
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  suckling behavior  nucleus  transcription factor complex  transcription, DNA-templated  central nervous system development  post-embryonic development  multicellular organism aging  GABAergic neuron differentiation in basal ganglia  multicellular organism growth  protein homodimerization activity  positive regulation of transcription from RNA polymerase II promoter  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  suckling behavior  nucleus  transcription factor complex  transcription, DNA-templated  central nervous system development  post-embryonic development  multicellular organism aging  GABAergic neuron differentiation in basal ganglia  multicellular organism growth  protein homodimerization activity  positive regulation of transcription from RNA polymerase II promoter  
NDEx NetworkHELT
Atlas of Cancer Signalling NetworkHELT
Wikipedia pathwaysHELT
Orthology - Evolution
OrthoDB391723
GeneTree (enSembl)ENSG00000187821
Phylogenetic Trees/Animal Genes : TreeFamHELT
HOVERGENA6NFD8
HOGENOMA6NFD8
Homologs : HomoloGeneHELT
Homology/Alignments : Family Browser (UCSC)HELT
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHELT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HELT
dbVarHELT
ClinVarHELT
1000_GenomesHELT 
Exome Variant ServerHELT
ExAC (Exome Aggregation Consortium)HELT (select the gene name)
Genetic variants : HAPMAP391723
Genomic Variants (DGV)HELT [DGVbeta]
DECIPHERHELT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHELT 
Mutations
ICGC Data PortalHELT 
TCGA Data PortalHELT 
Broad Tumor PortalHELT
OASIS PortalHELT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHELT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHELT
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 HELT
DgiDB (Drug Gene Interaction Database)HELT
DoCM (Curated mutations)HELT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HELT (select a term)
intoGenHELT
Cancer3DHELT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenHELT
Genetic Testing Registry HELT
NextProtA6NFD8 [Medical]
TSGene391723
GENETestsHELT
Target ValidationHELT
Huge Navigator HELT [HugePedia]
snp3D : Map Gene to Disease391723
BioCentury BCIQHELT
ClinGenHELT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD391723
Chemical/Pharm GKB GenePA162390819
Clinical trialHELT
Miscellaneous
canSAR (ICR)HELT (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHELT
EVEXHELT
GoPubMedHELT
iHOPHELT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:36:37 CEST 2017

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