Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BHLHA15 (basic helix-loop-helix family member a15)

Identity

Alias_namesBHLHB8
basic helix-loop-helix domain containing, class B, 8
basic helix-loop-helix family, member a15
Alias_symbol (synonym)MIST1
bHLHa15
Other alias
HGNC (Hugo) BHLHA15
LocusID (NCBI) 168620
Atlas_Id 53455
Location 7q21.3  [Link to chromosome band 7q21]
Location_base_pair Starts at 98212254 and ends at 98212959 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)BHLHA15   22265
Cards
Entrez_Gene (NCBI)BHLHA15  168620  basic helix-loop-helix family member a15
AliasesBHLHB8; MIST1
GeneCards (Weizmann)BHLHA15
Ensembl hg19 (Hinxton)ENSG00000180535 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180535 [Gene_View]  chr7:98212254-98212959 [Contig_View]  BHLHA15 [Vega]
ICGC DataPortalENSG00000180535
TCGA cBioPortalBHLHA15
AceView (NCBI)BHLHA15
Genatlas (Paris)BHLHA15
WikiGenes168620
SOURCE (Princeton)BHLHA15
Genetics Home Reference (NIH)BHLHA15
Genomic and cartography
GoldenPath hg38 (UCSC)BHLHA15  -     chr7:98212254-98212959 +  7q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHLHA15  -     7q21.3   [Description]    (hg19-Feb_2009)
EnsemblBHLHA15 - 7q21.3 [CytoView hg19]  BHLHA15 - 7q21.3 [CytoView hg38]
Mapping of homologs : NCBIBHLHA15 [Mapview hg19]  BHLHA15 [Mapview hg38]
OMIM608606   
Gene and transcription
Genbank (Entrez)BC113394 BC113396 BK000276 BX648200
RefSeq transcript (Entrez)NM_177455
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BHLHA15
Cluster EST : UnigeneHs.674510 [ NCBI ]
CGAP (NCI)Hs.674510
Alternative Splicing GalleryENSG00000180535
Gene ExpressionBHLHA15 [ NCBI-GEO ]   BHLHA15 [ EBI - ARRAY_EXPRESS ]   BHLHA15 [ SEEK ]   BHLHA15 [ MEM ]
Gene Expression Viewer (FireBrowse)BHLHA15 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)168620
GTEX Portal (Tissue expression)BHLHA15
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7RTS1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7RTS1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7RTS1
Splice isoforms : SwissVarQ7RTS1
PhosPhoSitePlusQ7RTS1
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)BHLHA15
DMDM Disease mutations168620
Blocks (Seattle)BHLHA15
SuperfamilyQ7RTS1
Human Protein AtlasENSG00000180535
Peptide AtlasQ7RTS1
HPRD16356
IPIIPI00219822   
Protein Interaction databases
DIP (DOE-UCLA)Q7RTS1
IntAct (EBI)Q7RTS1
FunCoupENSG00000180535
BioGRIDBHLHA15
STRING (EMBL)BHLHA15
ZODIACBHLHA15
Ontologies - Pathways
QuickGOQ7RTS1
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  nucleus  transcription from RNA polymerase II promoter  mitochondrial calcium ion transmembrane transport  Golgi organization  G-protein coupled receptor signaling pathway  cell-cell signaling  negative regulation of myotube differentiation  calcium-mediated signaling  endoplasmic reticulum unfolded protein response  cellular response to glucose starvation  glucose homeostasis  protein homodimerization activity  positive regulation of transcription from RNA polymerase II promoter  intracellular distribution of mitochondria  cell maturation  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  nucleus  transcription from RNA polymerase II promoter  mitochondrial calcium ion transmembrane transport  Golgi organization  G-protein coupled receptor signaling pathway  cell-cell signaling  negative regulation of myotube differentiation  calcium-mediated signaling  endoplasmic reticulum unfolded protein response  cellular response to glucose starvation  glucose homeostasis  protein homodimerization activity  positive regulation of transcription from RNA polymerase II promoter  intracellular distribution of mitochondria  cell maturation  
Pathways : KEGGMaturity onset diabetes of the young   
NDEx NetworkBHLHA15
Atlas of Cancer Signalling NetworkBHLHA15
Wikipedia pathwaysBHLHA15
Orthology - Evolution
OrthoDB168620
GeneTree (enSembl)ENSG00000180535
Phylogenetic Trees/Animal Genes : TreeFamBHLHA15
HOVERGENQ7RTS1
HOGENOMQ7RTS1
Homologs : HomoloGeneBHLHA15
Homology/Alignments : Family Browser (UCSC)BHLHA15
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHLHA15 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHLHA15
dbVarBHLHA15
ClinVarBHLHA15
1000_GenomesBHLHA15 
Exome Variant ServerBHLHA15
ExAC (Exome Aggregation Consortium)BHLHA15 (select the gene name)
Genetic variants : HAPMAP168620
Genomic Variants (DGV)BHLHA15 [DGVbeta]
DECIPHERBHLHA15 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBHLHA15 
Mutations
ICGC Data PortalBHLHA15 
TCGA Data PortalBHLHA15 
Broad Tumor PortalBHLHA15
OASIS PortalBHLHA15 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBHLHA15  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBHLHA15
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BHLHA15
DgiDB (Drug Gene Interaction Database)BHLHA15
DoCM (Curated mutations)BHLHA15 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BHLHA15 (select a term)
intoGenBHLHA15
Cancer3DBHLHA15(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608606   
Orphanet
MedgenBHLHA15
Genetic Testing Registry BHLHA15
NextProtQ7RTS1 [Medical]
TSGene168620
GENETestsBHLHA15
Target ValidationBHLHA15
Huge Navigator BHLHA15 [HugePedia]
snp3D : Map Gene to Disease168620
BioCentury BCIQBHLHA15
ClinGenBHLHA15
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD168620
Chemical/Pharm GKB GenePA164716601
Clinical trialBHLHA15
Miscellaneous
canSAR (ICR)BHLHA15 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBHLHA15
EVEXBHLHA15
GoPubMedBHLHA15
iHOPBHLHA15
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 : Mon Sep 18 13:47:57 CEST 2017

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