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SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1)

Identity

Alias_symbol (synonym)BAF57
HGNC (Hugo) SMARCE1
LocusID (NCBI) 6605
Atlas_Id 43494
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 38783976 and ends at 38804103 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HDLBP (2q37.3) / SMARCE1 (17q21.2)HDLBP 2q37.3 / SMARCE1 17q21.2

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)SMARCE1   11109
Cards
Entrez_Gene (NCBI)SMARCE1  6605  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
AliasesBAF57
GeneCards (Weizmann)SMARCE1
Ensembl hg19 (Hinxton)ENSG00000073584 [Gene_View]  chr17:38783976-38804103 [Contig_View]  SMARCE1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000073584 [Gene_View]  chr17:38783976-38804103 [Contig_View]  SMARCE1 [Vega]
ICGC DataPortalENSG00000073584
TCGA cBioPortalSMARCE1
AceView (NCBI)SMARCE1
Genatlas (Paris)SMARCE1
WikiGenes6605
SOURCE (Princeton)SMARCE1
Genetics Home Reference (NIH)SMARCE1
Genomic and cartography
GoldenPath hg19 (UCSC)SMARCE1  -     chr17:38783976-38804103 -  17q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMARCE1  -     17q21.2   [Description]    (hg38-Dec_2013)
EnsemblSMARCE1 - 17q21.2 [CytoView hg19]  SMARCE1 - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBISMARCE1 [Mapview hg19]  SMARCE1 [Mapview hg38]
OMIM603111   607174   
Gene and transcription
Genbank (Entrez)AK001532 AK023653 AK095047 AK294218 AK294666
RefSeq transcript (Entrez)NM_003079
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_032163 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)SMARCE1
Cluster EST : UnigeneHs.743978 [ NCBI ]
CGAP (NCI)Hs.743978
Alternative Splicing GalleryENSG00000073584
Gene ExpressionSMARCE1 [ NCBI-GEO ]   SMARCE1 [ EBI - ARRAY_EXPRESS ]   SMARCE1 [ SEEK ]   SMARCE1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6605
GTEX Portal (Tissue expression)SMARCE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969G3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969G3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969G3
Splice isoforms : SwissVarQ969G3
PhosPhoSitePlusQ969G3
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)BAF57    HMG_box_dom   
Domain families : Pfam (Sanger)HMG_box (PF00505)   
Domain families : Pfam (NCBI)pfam00505   
Domain families : Smart (EMBL)HMG (SM00398)  
Conserved Domain (NCBI)SMARCE1
DMDM Disease mutations6605
Blocks (Seattle)SMARCE1
SuperfamilyQ969G3
Human Protein AtlasENSG00000073584
Peptide AtlasQ969G3
HPRD04382
IPIIPI00017669   IPI01018063   IPI01015775   IPI01015411   IPI00470489   IPI00796698   IPI00793699   
Protein Interaction databases
DIP (DOE-UCLA)Q969G3
IntAct (EBI)Q969G3
FunCoupENSG00000073584
BioGRIDSMARCE1
STRING (EMBL)SMARCE1
ZODIACSMARCE1
Ontologies - Pathways
QuickGOQ969G3
Ontology : AmiGOnuclear chromosome  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  chromatin binding  transcription coactivator activity  RNA binding  protein binding  nucleus  nucleoplasm  nucleosome disassembly  chromatin remodeling  regulation of transcription from RNA polymerase II promoter  N-acetyltransferase activity  SWI/SNF complex  ligand-dependent nuclear receptor binding  transcriptional repressor complex  neurogenesis  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein complex  negative regulation of transcription, DNA-templated  protein N-terminus binding  npBAF complex  nBAF complex  
Ontology : EGO-EBInuclear chromosome  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  chromatin binding  transcription coactivator activity  RNA binding  protein binding  nucleus  nucleoplasm  nucleosome disassembly  chromatin remodeling  regulation of transcription from RNA polymerase II promoter  N-acetyltransferase activity  SWI/SNF complex  ligand-dependent nuclear receptor binding  transcriptional repressor complex  neurogenesis  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein complex  negative regulation of transcription, DNA-templated  protein N-terminus binding  npBAF complex  nBAF complex  
Pathways : BIOCARTAChromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes]    Control of Gene Expression by Vitamin D Receptor [Genes]   
NDEx NetworkSMARCE1
Atlas of Cancer Signalling NetworkSMARCE1
Wikipedia pathwaysSMARCE1
Orthology - Evolution
OrthoDB6605
GeneTree (enSembl)ENSG00000073584
Phylogenetic Trees/Animal Genes : TreeFamSMARCE1
HOVERGENQ969G3
HOGENOMQ969G3
Homologs : HomoloGeneSMARCE1
Homology/Alignments : Family Browser (UCSC)SMARCE1
Gene fusions - Rearrangements
Fusion : MitelmanHDLBP/SMARCE1 [2q37.3/17q21.2]  [t(2;17)(q37;q21)]  
Fusion: TCGAHDLBP 2q37.3 SMARCE1 17q21.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCE1
dbVarSMARCE1
ClinVarSMARCE1
1000_GenomesSMARCE1 
Exome Variant ServerSMARCE1
ExAC (Exome Aggregation Consortium)SMARCE1 (select the gene name)
Genetic variants : HAPMAP6605
Genomic Variants (DGV)SMARCE1 [DGVbeta]
DECIPHER (Syndromes)17:38783976-38804103  ENSG00000073584
CONAN: Copy Number AnalysisSMARCE1 
Mutations
ICGC Data PortalSMARCE1 
TCGA Data PortalSMARCE1 
Broad Tumor PortalSMARCE1
OASIS PortalSMARCE1 [ Somatic mutations - Copy number]
Cancer Gene: CensusSMARCE1 
Mutations and Diseases : HGMDSMARCE1
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch SMARCE1
DgiDB (Drug Gene Interaction Database)SMARCE1
DoCM (Curated mutations)SMARCE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMARCE1 (select a term)
intoGenSMARCE1
Cancer3DSMARCE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603111    607174   
Orphanet321    20073   
MedgenSMARCE1
Genetic Testing Registry SMARCE1
NextProtQ969G3 [Medical]
TSGene6605
GENETestsSMARCE1
Huge Navigator SMARCE1 [HugePedia]
snp3D : Map Gene to Disease6605
BioCentury BCIQSMARCE1
ClinGenSMARCE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6605
Chemical/Pharm GKB GenePA35959
Clinical trialSMARCE1
Miscellaneous
canSAR (ICR)SMARCE1 (select the gene name)
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMARCE1
EVEXSMARCE1
GoPubMedSMARCE1
iHOPSMARCE1
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 : Fri Nov 18 19:51:58 CET 2016

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