Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BHLHE23 (basic helix-loop-helix family member e23)

Identity

Other aliasBETA4
BHLHB4
Beta3b
bA305P22.3
HGNC (Hugo) BHLHE23
LocusID (NCBI) 128408
Atlas_Id 56741
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 63005979 and ends at 63007035 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)BHLHE23   16093
Cards
Entrez_Gene (NCBI)BHLHE23  128408  basic helix-loop-helix family member e23
AliasesBETA4; BHLHB4; Beta3b; bA305P22.3
GeneCards (Weizmann)BHLHE23
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr20:63005979-63007035 [Contig_View]  BHLHE23 [Vega]
TCGA cBioPortalBHLHE23
AceView (NCBI)BHLHE23
Genatlas (Paris)BHLHE23
WikiGenes128408
SOURCE (Princeton)BHLHE23
Genetics Home Reference (NIH)BHLHE23
Genomic and cartography
GoldenPath hg38 (UCSC)BHLHE23  -     chr20:63005979-63007035 -  20q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHLHE23  -     20q13.33   [Description]    (hg19-Feb_2009)
EnsemblBHLHE23 - 20q13.33 [CytoView hg19]  BHLHE23 - 20q13.33 [CytoView hg38]
Mapping of homologs : NCBIBHLHE23 [Mapview hg19]  BHLHE23 [Mapview hg38]
OMIM609331   
Gene and transcription
Genbank (Entrez)BC137288 BC137308 BK000274
RefSeq transcript (Entrez)NM_080606
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BHLHE23
Cluster EST : UnigeneHs.551230 [ NCBI ]
CGAP (NCI)Hs.551230
Gene ExpressionBHLHE23 [ NCBI-GEO ]   BHLHE23 [ EBI - ARRAY_EXPRESS ]   BHLHE23 [ SEEK ]   BHLHE23 [ MEM ]
Gene Expression Viewer (FireBrowse)BHLHE23 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)128408
GTEX Portal (Tissue expression)BHLHE23
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NDY6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NDY6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NDY6
Splice isoforms : SwissVarQ8NDY6
PhosPhoSitePlusQ8NDY6
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    Bhlhe23   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)BHLHE23
DMDM Disease mutations128408
Blocks (Seattle)BHLHE23
SuperfamilyQ8NDY6
Peptide AtlasQ8NDY6
IPIIPI00184650   
Protein Interaction databases
DIP (DOE-UCLA)Q8NDY6
IntAct (EBI)Q8NDY6
BioGRIDBHLHE23
STRING (EMBL)BHLHE23
ZODIACBHLHE23
Ontologies - Pathways
QuickGOQ8NDY6
Ontology : AmiGODNA binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  protein dimerization activity  cell development  
Ontology : EGO-EBIDNA binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  protein dimerization activity  cell development  
NDEx NetworkBHLHE23
Atlas of Cancer Signalling NetworkBHLHE23
Wikipedia pathwaysBHLHE23
Orthology - Evolution
OrthoDB128408
Phylogenetic Trees/Animal Genes : TreeFamBHLHE23
HOVERGENQ8NDY6
HOGENOMQ8NDY6
Homologs : HomoloGeneBHLHE23
Homology/Alignments : Family Browser (UCSC)BHLHE23
Gene fusions - Rearrangements
Tumor Fusion PortalBHLHE23
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHLHE23 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHLHE23
dbVarBHLHE23
ClinVarBHLHE23
1000_GenomesBHLHE23 
Exome Variant ServerBHLHE23
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP128408
Genomic Variants (DGV)BHLHE23 [DGVbeta]
DECIPHERBHLHE23 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBHLHE23 
Mutations
ICGC Data PortalBHLHE23 
TCGA Data PortalBHLHE23 
Broad Tumor PortalBHLHE23
OASIS PortalBHLHE23 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBHLHE23  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBHLHE23
BioMutasearch BHLHE23
DgiDB (Drug Gene Interaction Database)BHLHE23
DoCM (Curated mutations)BHLHE23 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BHLHE23 (select a term)
intoGenBHLHE23
Cancer3DBHLHE23(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609331   
Orphanet
DisGeNETBHLHE23
MedgenBHLHE23
Genetic Testing Registry BHLHE23
NextProtQ8NDY6 [Medical]
TSGene128408
GENETestsBHLHE23
Target ValidationBHLHE23
Huge Navigator BHLHE23 [HugePedia]
snp3D : Map Gene to Disease128408
BioCentury BCIQBHLHE23
ClinGenBHLHE23
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD128408
Chemical/Pharm GKB GenePA164716615
Clinical trialBHLHE23
Miscellaneous
canSAR (ICR)BHLHE23 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBHLHE23
EVEXBHLHE23
GoPubMedBHLHE23
iHOPBHLHE23
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 14:04:49 CET 2017

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