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

Identity

Alias (NCBI)BAF57
CSS5
HGNC (Hugo) SMARCE1
HGNC Alias symbBAF57
LocusID (NCBI) 6605
Atlas_Id 43494
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 40624962 and ends at 40647818 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)
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    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
AliasesBAF57; CSS5
GeneCards (Weizmann)SMARCE1
Ensembl hg19 (Hinxton)ENSG00000073584 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000073584 [Gene_View]  ENSG00000073584 [Sequence]  chr17:40624962-40647818 [Contig_View]  SMARCE1 [Vega]
ICGC DataPortalENSG00000073584
TCGA cBioPortalSMARCE1
AceView (NCBI)SMARCE1
Genatlas (Paris)SMARCE1
SOURCE (Princeton)SMARCE1
Genetics Home Reference (NIH)SMARCE1
Genomic and cartography
GoldenPath hg38 (UCSC)SMARCE1  -     chr17:40624962-40647818 -  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMARCE1  -     17q21.2   [Description]    (hg19-Feb_2009)
GoldenPathSMARCE1 - 17q21.2 [CytoView hg19]  SMARCE1 - 17q21.2 [CytoView hg38]
ImmunoBaseENSG00000073584
Genome Data Viewer NCBISMARCE1 [Mapview hg19]  
OMIM603111   607174   616938   
Gene and transcription
Genbank (Entrez)AK001532 AK023653 AK095047 AK294218 AK294666
RefSeq transcript (Entrez)NM_003079
Consensus coding sequences : CCDS (NCBI)SMARCE1
Gene ExpressionSMARCE1 [ NCBI-GEO ]   SMARCE1 [ EBI - ARRAY_EXPRESS ]   SMARCE1 [ SEEK ]   SMARCE1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCE1 [ Firebrowse - Broad ]
GenevisibleExpression of SMARCE1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6605
GTEX Portal (Tissue expression)SMARCE1
Human Protein AtlasENSG00000073584-SMARCE1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ969G3
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)BAF57    HMG_box_dom    HMG_box_dom_sf   
Domain families : Pfam (Sanger)HMG_box (PF00505)   
Domain families : Pfam (NCBI)pfam00505   
Domain families : Smart (EMBL)HMG (SM00398)  
Conserved Domain (NCBI)SMARCE1
PDB (RSDB)6LTH    6LTJ    7CYU   
PDB Europe6LTH    6LTJ    7CYU   
PDB (PDBSum)6LTH    6LTJ    7CYU   
PDB (IMB)6LTH    6LTJ    7CYU   
Structural Biology KnowledgeBase6LTH    6LTJ    7CYU   
SCOP (Structural Classification of Proteins)6LTH    6LTJ    7CYU   
CATH (Classification of proteins structures)6LTH    6LTJ    7CYU   
SuperfamilyQ969G3
AlphaFold pdb e-kbQ969G3   
Human Protein Atlas [tissue]ENSG00000073584-SMARCE1 [tissue]
HPRD04382
Protein Interaction databases
DIP (DOE-UCLA)Q969G3
IntAct (EBI)Q969G3
BioGRIDSMARCE1
STRING (EMBL)SMARCE1
ZODIACSMARCE1
Ontologies - Pathways
QuickGOQ969G3
Ontology : AmiGOnuclear chromosome  chromatin  chromatin binding  transcription coactivator activity  RNA binding  protein binding  nucleus  nucleoplasm  nucleosome disassembly  chromatin remodeling  regulation of transcription by RNA polymerase II  N-acetyltransferase activity  SWI/SNF complex  SWI/SNF complex  nuclear receptor binding  nuclear receptor binding  neurogenesis  nucleosomal DNA binding  protein-containing complex  ATP-dependent chromatin remodeling  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  protein N-terminus binding  npBAF complex  nBAF complex  
Ontology : EGO-EBInuclear chromosome  chromatin  chromatin binding  transcription coactivator activity  RNA binding  protein binding  nucleus  nucleoplasm  nucleosome disassembly  chromatin remodeling  regulation of transcription by RNA polymerase II  N-acetyltransferase activity  SWI/SNF complex  SWI/SNF complex  nuclear receptor binding  nuclear receptor binding  neurogenesis  nucleosomal DNA binding  protein-containing complex  ATP-dependent chromatin remodeling  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive 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
Homologs : HomoloGeneSMARCE1
Homology/Alignments : Family Browser (UCSC)SMARCE1
Gene fusions - Rearrangements
Fusion : MitelmanHDLBP/SMARCE1 [2q37.3/17q21.2]  
Fusion : QuiverSMARCE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCE1
dbVarSMARCE1
ClinVarSMARCE1
MonarchSMARCE1
1000_GenomesSMARCE1 
Exome Variant ServerSMARCE1
GNOMAD BrowserENSG00000073584
Varsome BrowserSMARCE1
ACMGSMARCE1 variants
VarityQ969G3
Genomic Variants (DGV)SMARCE1 [DGVbeta]
DECIPHERSMARCE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMARCE1 
Mutations
ICGC Data PortalSMARCE1 
TCGA Data PortalSMARCE1 
Broad Tumor PortalSMARCE1
OASIS PortalSMARCE1 [ Somatic mutations - Copy number]
Cancer Gene: CensusSMARCE1 
Somatic Mutations in Cancer : COSMICSMARCE1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMARCE1
Mutations and Diseases : HGMDSMARCE1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMARCE1
DgiDB (Drug Gene Interaction Database)SMARCE1
DoCM (Curated mutations)SMARCE1
CIViC (Clinical Interpretations of Variants in Cancer)SMARCE1
Cancer3DSMARCE1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603111    607174    616938   
Orphanet321    20073   
DisGeNETSMARCE1
MedgenSMARCE1
Genetic Testing Registry SMARCE1
NextProtQ969G3 [Medical]
GENETestsSMARCE1
Target ValidationSMARCE1
Huge Navigator SMARCE1 [HugePedia]
ClinGenSMARCE1
Clinical trials, drugs, therapy
MyCancerGenomeSMARCE1
Protein Interactions : CTDSMARCE1
Pharm GKB GenePA35959
PharosQ969G3
Clinical trialSMARCE1
Miscellaneous
canSAR (ICR)SMARCE1
HarmonizomeSMARCE1
DataMed IndexSMARCE1
Probes
Litterature
PubMed147 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMARCE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:32:11 CEST 2021

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