Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Identity

Other namesBAF57
HGNC (Hugo) SMARCE1
LocusID (NCBI) 6605
Atlas_Id 43494
Location 17q21.2
Location_base_pair Starts at 38783976 and ends at 38804103 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
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
GeneCards (Weizmann)SMARCE1
Ensembl hg19 (Hinxton) [Gene_View]  chr17:38783976-38804103 [Contig_View]  SMARCE1 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr17:38783976-38804103 [Contig_View]  SMARCE1 [Vega]
TCGA cBioPortalSMARCE1
AceView (NCBI)SMARCE1
Genatlas (Paris)SMARCE1
WikiGenes6605
SOURCE (Princeton)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 : Fast-db (Paris)GSHG0013359
Gene ExpressionSMARCE1 [ NCBI-GEO ]     SMARCE1 [ SEEK ]   SMARCE1 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)6605
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969G3 (Uniprot)
NextProtQ969G3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969G3
Splice isoforms : SwissVarQ969G3 (Swissvar)
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)  
DMDM Disease mutations6605
Blocks (Seattle)SMARCE1
Peptide AtlasQ969G3
HPRD04382
IPIIPI00017669   IPI01018063   IPI01015775   IPI01015411   IPI00470489   IPI00796698   IPI00793699   
Protein Interaction databases
DIP (DOE-UCLA)Q969G3
IntAct (EBI)Q969G3
BioGRIDSMARCE1
IntegromeDBSMARCE1
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]   
Protein Interaction DatabaseSMARCE1
Atlas of Cancer Signalling NetworkSMARCE1
Wikipedia pathwaysSMARCE1
Orthology - Evolution
OrthoDB6605
Phylogenetic Trees/Animal Genes : TreeFamSMARCE1
Homologs : HomoloGeneSMARCE1
Homology/Alignments : Family Browser (UCSC)SMARCE1
Gene fusions - Rearrangements
Fusion: TCGAHDLBP 2q37.3 SMARCE1 17q21.2 PRAD
Polymorphisms : SNP, variants
NCBI Variation ViewerSMARCE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCE1
dbVarSMARCE1
ClinVarSMARCE1
1000_GenomesSMARCE1 
Exome Variant ServerSMARCE1
SNP (GeneSNP Utah)SMARCE1
SNP : HGBaseSMARCE1
Genetic variants : HAPMAPSMARCE1
Genomic Variants (DGV)SMARCE1 [DGVbeta]
Mutations
ICGC Data PortalSMARCE1 
TCGA Data PortalSMARCE1 
Tumor PortalSMARCE1
TCGA Copy Number PortalSMARCE1
Cancer Gene: CensusSMARCE1 
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)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:38783976-38804103
CONAN: Copy Number AnalysisSMARCE1 
Mutations and Diseases : HGMDSMARCE1
OMIM603111    607174   
MedgenSMARCE1
NextProtQ969G3 [Medical]
TSGene6605
GENETestsSMARCE1
Huge Navigator SMARCE1 [HugePedia]  SMARCE1 [HugeCancerGEM]
snp3D : Map Gene to Disease6605
BioCentury BCIQSMARCE1
General knowledge
Chemical/Protein Interactions : CTD6605
Chemical/Pharm GKB GenePA35959
Clinical trialSMARCE1
Other databases
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMARCE1
GoPubMedSMARCE1
iHOPSMARCE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jan 16 19:31:43 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.