Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BHLHA9 (basic helix-loop-helix family member a9)

Identity

Alias_namesbasic helix-loop-helix family, member a9
Alias_symbol (synonym)bHLHa9
BHLHF42
Other aliasCCSPD
HGNC (Hugo) BHLHA9
LocusID (NCBI) 727857
Atlas_Id 60749
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 1270564 and ends at 1271271 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)BHLHA9   35126
Cards
Entrez_Gene (NCBI)BHLHA9  727857  basic helix-loop-helix family member a9
AliasesBHLHF42; CCSPD
GeneCards (Weizmann)BHLHA9
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr17:1270564-1271271 [Contig_View]  BHLHA9 [Vega]
TCGA cBioPortalBHLHA9
AceView (NCBI)BHLHA9
Genatlas (Paris)BHLHA9
WikiGenes727857
SOURCE (Princeton)BHLHA9
Genetics Home Reference (NIH)BHLHA9
Genomic and cartography
GoldenPath hg38 (UCSC)BHLHA9  -     chr17:1270564-1271271 +  17p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHLHA9  -     17p13.3   [Description]    (hg19-Feb_2009)
EnsemblBHLHA9 - 17p13.3 [CytoView hg19]  BHLHA9 - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIBHLHA9 [Mapview hg19]  BHLHA9 [Mapview hg38]
OMIM607539   609432   615416   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001164405
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BHLHA9
Cluster EST : UnigeneHs.723790 [ NCBI ]
CGAP (NCI)Hs.723790
Gene ExpressionBHLHA9 [ NCBI-GEO ]   BHLHA9 [ EBI - ARRAY_EXPRESS ]   BHLHA9 [ SEEK ]   BHLHA9 [ MEM ]
Gene Expression Viewer (FireBrowse)BHLHA9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)727857
GTEX Portal (Tissue expression)BHLHA9
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7RTU4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7RTU4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7RTU4
Splice isoforms : SwissVarQ7RTU4
PhosPhoSitePlusQ7RTU4
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)BHLHA9
DMDM Disease mutations727857
Blocks (Seattle)BHLHA9
SuperfamilyQ7RTU4
Peptide AtlasQ7RTU4
IPIIPI00394927   
Protein Interaction databases
DIP (DOE-UCLA)Q7RTU4
IntAct (EBI)Q7RTU4
BioGRIDBHLHA9
STRING (EMBL)BHLHA9
ZODIACBHLHA9
Ontologies - Pathways
QuickGOQ7RTU4
Ontology : AmiGODNA binding  protein binding  nucleus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  multicellular organism development  protein heterodimerization activity  
Ontology : EGO-EBIDNA binding  protein binding  nucleus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  multicellular organism development  protein heterodimerization activity  
NDEx NetworkBHLHA9
Atlas of Cancer Signalling NetworkBHLHA9
Wikipedia pathwaysBHLHA9
Orthology - Evolution
OrthoDB727857
Phylogenetic Trees/Animal Genes : TreeFamBHLHA9
HOVERGENQ7RTU4
HOGENOMQ7RTU4
Homologs : HomoloGeneBHLHA9
Homology/Alignments : Family Browser (UCSC)BHLHA9
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHLHA9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHLHA9
dbVarBHLHA9
ClinVarBHLHA9
1000_GenomesBHLHA9 
Exome Variant ServerBHLHA9
ExAC (Exome Aggregation Consortium)BHLHA9 (select the gene name)
Genetic variants : HAPMAP727857
Genomic Variants (DGV)BHLHA9 [DGVbeta]
DECIPHERBHLHA9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBHLHA9 
Mutations
ICGC Data PortalBHLHA9 
TCGA Data PortalBHLHA9 
Broad Tumor PortalBHLHA9
OASIS PortalBHLHA9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBHLHA9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBHLHA9
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 BHLHA9
DgiDB (Drug Gene Interaction Database)BHLHA9
DoCM (Curated mutations)BHLHA9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BHLHA9 (select a term)
intoGenBHLHA9
Cancer3DBHLHA9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607539    609432    615416   
Orphanet17147    2954   
MedgenBHLHA9
Genetic Testing Registry BHLHA9
NextProtQ7RTU4 [Medical]
TSGene727857
GENETestsBHLHA9
Target ValidationBHLHA9
Huge Navigator BHLHA9 [HugePedia]
snp3D : Map Gene to Disease727857
BioCentury BCIQBHLHA9
ClinGenBHLHA9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD727857
Chemical/Pharm GKB GenePA164716602
Clinical trialBHLHA9
Miscellaneous
canSAR (ICR)BHLHA9 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBHLHA9
EVEXBHLHA9
GoPubMedBHLHA9
iHOPBHLHA9
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 : Wed Jun 7 15:39:39 CEST 2017

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