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ASCL3 (achaete-scute family bHLH transcription factor 3)

Identity

Alias (NCBI)HASH3
SGN1
bHLHa42
HGNC (Hugo) ASCL3
HGNC Alias symbbHLHa42
HASH3
Sgn1
HGNC Previous nameachaete-scute complex (Drosophila) homolog-like 3
 achaete-scute complex homolog 3 (Drosophila)
LocusID (NCBI) 56676
Atlas_Id 60567
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 8937572 and ends at 8943033 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)ASCL3   740
Cards
Entrez_Gene (NCBI)ASCL3  56676  achaete-scute family bHLH transcription factor 3
AliasesHASH3; SGN1; bHLHa42
GeneCards (Weizmann)ASCL3
Ensembl hg19 (Hinxton)ENSG00000176009 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176009 [Gene_View]  ENSG00000176009 [Sequence]  chr11:8937572-8943033 [Contig_View]  ASCL3 [Vega]
ICGC DataPortalENSG00000176009
TCGA cBioPortalASCL3
AceView (NCBI)ASCL3
Genatlas (Paris)ASCL3
WikiGenes56676
SOURCE (Princeton)ASCL3
Genetics Home Reference (NIH)ASCL3
Genomic and cartography
GoldenPath hg38 (UCSC)ASCL3  -     chr11:8937572-8943033 -  11p15.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASCL3  -     11p15.4   [Description]    (hg19-Feb_2009)
GoldenPathASCL3 - 11p15.4 [CytoView hg19]  ASCL3 - 11p15.4 [CytoView hg38]
ImmunoBaseENSG00000176009
genome Data Viewer NCBIASCL3 [Mapview hg19]  
OMIM609154   
Gene and transcription
Genbank (Entrez)BG199363
RefSeq transcript (Entrez)NM_020646
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASCL3
Alternative Splicing GalleryENSG00000176009
Gene ExpressionASCL3 [ NCBI-GEO ]   ASCL3 [ EBI - ARRAY_EXPRESS ]   ASCL3 [ SEEK ]   ASCL3 [ MEM ]
Gene Expression Viewer (FireBrowse)ASCL3 [ Firebrowse - Broad ]
GenevisibleExpression of ASCL3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56676
GTEX Portal (Tissue expression)ASCL3
Human Protein AtlasENSG00000176009-ASCL3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQ33   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQ33  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQ33
Splice isoforms : SwissVarQ9NQ33
PhosPhoSitePlusQ9NQ33
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf    MASH1/Ascl1a-like   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)ASCL3
DMDM Disease mutations56676
Blocks (Seattle)ASCL3
SuperfamilyQ9NQ33
Human Protein Atlas [tissue]ENSG00000176009-ASCL3 [tissue]
Peptide AtlasQ9NQ33
HPRD18523
IPIIPI00217786   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQ33
IntAct (EBI)Q9NQ33
FunCoupENSG00000176009
BioGRIDASCL3
STRING (EMBL)ASCL3
ZODIACASCL3
Ontologies - Pathways
QuickGOQ9NQ33
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA binding  DNA-binding transcription factor activity  regulation of transcription by RNA polymerase II  regulation of transcription by RNA polymerase II  transcription factor binding  protein dimerization activity  RNA polymerase II transcription factor complex  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA binding  DNA-binding transcription factor activity  regulation of transcription by RNA polymerase II  regulation of transcription by RNA polymerase II  transcription factor binding  protein dimerization activity  RNA polymerase II transcription factor complex  
NDEx NetworkASCL3
Atlas of Cancer Signalling NetworkASCL3
Wikipedia pathwaysASCL3
Orthology - Evolution
OrthoDB56676
GeneTree (enSembl)ENSG00000176009
Phylogenetic Trees/Animal Genes : TreeFamASCL3
HOGENOMQ9NQ33
Homologs : HomoloGeneASCL3
Homology/Alignments : Family Browser (UCSC)ASCL3
Gene fusions - Rearrangements
Fusion : QuiverASCL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASCL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASCL3
dbVarASCL3
ClinVarASCL3
1000_GenomesASCL3 
Exome Variant ServerASCL3
GNOMAD BrowserENSG00000176009
Varsome BrowserASCL3
Genetic variants : HAPMAP56676
Genomic Variants (DGV)ASCL3 [DGVbeta]
DECIPHERASCL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASCL3 
Mutations
ICGC Data PortalASCL3 
TCGA Data PortalASCL3 
Broad Tumor PortalASCL3
OASIS PortalASCL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASCL3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DASCL3
Mutations and Diseases : HGMDASCL3
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 ASCL3
DgiDB (Drug Gene Interaction Database)ASCL3
DoCM (Curated mutations)ASCL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASCL3 (select a term)
intoGenASCL3
Cancer3DASCL3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609154   
Orphanet
DisGeNETASCL3
MedgenASCL3
Genetic Testing Registry ASCL3
NextProtQ9NQ33 [Medical]
TSGene56676
GENETestsASCL3
Target ValidationASCL3
Huge Navigator ASCL3 [HugePedia]
snp3D : Map Gene to Disease56676
BioCentury BCIQASCL3
ClinGenASCL3
Clinical trials, drugs, therapy
Protein Interactions : CTD56676
Pharm GKB GenePA25040
Clinical trialASCL3
Miscellaneous
canSAR (ICR)ASCL3 (select the gene name)
HarmonizomeASCL3
DataMed IndexASCL3
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASCL3
EVEXASCL3
GoPubMedASCL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:48:15 CEST 2020

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