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SMARCA5 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5)

Identity

Alias_symbol (synonym)hSNF2H
hISWI
ISWI
Other aliasSNF2H
WCRF135
HGNC (Hugo) SMARCA5
LocusID (NCBI) 8467
Atlas_Id 42334
Location 4q31.21  [Link to chromosome band 4q31]
Location_base_pair Starts at 144434616 and ends at 144478642 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EWSR1 (22q12.2) / SMARCA5 (4q31.21)SMARCA5 (4q31.21) / APPBP2 (17q23.2)TBC1D9 (4q31.21) / SMARCA5 (4q31.21)
EWSR1 22q12.2 / SMARCA5 4q31.21TBC1D9 4q31.21 / SMARCA5 4q31.21

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(12;12)(p13;q13) ETV6/BAZ2A


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Soft tissue tumors: an overview


External links

Nomenclature
HGNC (Hugo)SMARCA5   11101
Cards
Entrez_Gene (NCBI)SMARCA5  8467  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
AliasesISWI; SNF2H; WCRF135; hISWI; 
hSNF2H
GeneCards (Weizmann)SMARCA5
Ensembl hg19 (Hinxton)ENSG00000153147 [Gene_View]  chr4:144434616-144478642 [Contig_View]  SMARCA5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000153147 [Gene_View]  chr4:144434616-144478642 [Contig_View]  SMARCA5 [Vega]
ICGC DataPortalENSG00000153147
TCGA cBioPortalSMARCA5
AceView (NCBI)SMARCA5
Genatlas (Paris)SMARCA5
WikiGenes8467
SOURCE (Princeton)SMARCA5
Genetics Home Reference (NIH)SMARCA5
Genomic and cartography
GoldenPath hg19 (UCSC)SMARCA5  -     chr4:144434616-144478642 +  4q31.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMARCA5  -     4q31.21   [Description]    (hg38-Dec_2013)
EnsemblSMARCA5 - 4q31.21 [CytoView hg19]  SMARCA5 - 4q31.21 [CytoView hg38]
Mapping of homologs : NCBISMARCA5 [Mapview hg19]  SMARCA5 [Mapview hg38]
OMIM603375   
Gene and transcription
Genbank (Entrez)AB010882 AF086544 AK123439 AK302841 AK308424
RefSeq transcript (Entrez)NM_003601
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)SMARCA5
Cluster EST : UnigeneHs.558422 [ NCBI ]
CGAP (NCI)Hs.558422
Alternative Splicing GalleryENSG00000153147
Gene ExpressionSMARCA5 [ NCBI-GEO ]   SMARCA5 [ EBI - ARRAY_EXPRESS ]   SMARCA5 [ SEEK ]   SMARCA5 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8467
GTEX Portal (Tissue expression)SMARCA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60264   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60264  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60264
Splice isoforms : SwissVarO60264
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
PhosPhoSitePlusO60264
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    SANT (PS51293)   
Domains : Interpro (EBI)DBINO    Helicase_ATP-bd    Helicase_C    Homeodomain-like    ISWI    ISWI_HAND-dom    P-loop_NTPase    SANT/Myb    SANT_dom    SLIDE    SNF2_N   
Domain families : Pfam (Sanger)DBINO (PF13892)    HAND (PF09110)    Helicase_C (PF00271)    SLIDE (PF09111)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam13892    pfam09110    pfam00271    pfam09111    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  SANT (SM00717)  
Conserved Domain (NCBI)SMARCA5
DMDM Disease mutations8467
Blocks (Seattle)SMARCA5
SuperfamilyO60264
Human Protein AtlasENSG00000153147
Peptide AtlasO60264
HPRD04538
IPIIPI00297211   IPI01013681   
Protein Interaction databases
DIP (DOE-UCLA)O60264
IntAct (EBI)O60264
FunCoupENSG00000153147
BioGRIDSMARCA5
STRING (EMBL)SMARCA5
ZODIACSMARCA5
Ontologies - Pathways
QuickGOO60264
Ontology : AmiGOchromatin silencing at rDNA  condensed chromosome  DNA binding  helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  chromatin silencing complex  nucleolus  double-strand break repair  nucleosome assembly  chromatin remodeling  DNA-templated transcription, initiation  regulation of transcription from RNA polymerase II promoter  nucleosome positioning  NURF complex  ATPase activity  RSF complex  nucleosome binding  CENP-A containing nucleosome assembly  histone binding  ATP-dependent chromatin remodeling  nuclear replication fork  positive regulation of gene expression, epigenetic  positive regulation of transcription, DNA-templated  
Ontology : EGO-EBIchromatin silencing at rDNA  condensed chromosome  DNA binding  helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  chromatin silencing complex  nucleolus  double-strand break repair  nucleosome assembly  chromatin remodeling  DNA-templated transcription, initiation  regulation of transcription from RNA polymerase II promoter  nucleosome positioning  NURF complex  ATPase activity  RSF complex  nucleosome binding  CENP-A containing nucleosome assembly  histone binding  ATP-dependent chromatin remodeling  nuclear replication fork  positive regulation of gene expression, epigenetic  positive regulation of transcription, DNA-templated  
NDEx NetworkSMARCA5
Atlas of Cancer Signalling NetworkSMARCA5
Wikipedia pathwaysSMARCA5
Orthology - Evolution
OrthoDB8467
GeneTree (enSembl)ENSG00000153147
Phylogenetic Trees/Animal Genes : TreeFamSMARCA5
HOVERGENO60264
HOGENOMO60264
Homologs : HomoloGeneSMARCA5
Homology/Alignments : Family Browser (UCSC)SMARCA5
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1/SMARCA5 [22q12.2/4q31.21]  [t(4;22)(q31;q12)]  
Fusion : MitelmanTBC1D9/SMARCA5 [4q31.21/4q31.21]  [t(4;4)(q31;q31)]  
Fusion: TCGATBC1D9 4q31.21 SMARCA5 4q31.21 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCA5
dbVarSMARCA5
ClinVarSMARCA5
1000_GenomesSMARCA5 
Exome Variant ServerSMARCA5
ExAC (Exome Aggregation Consortium)SMARCA5 (select the gene name)
Genetic variants : HAPMAP8467
Genomic Variants (DGV)SMARCA5 [DGVbeta]
DECIPHER (Syndromes)4:144434616-144478642  ENSG00000153147
CONAN: Copy Number AnalysisSMARCA5 
Mutations
ICGC Data PortalSMARCA5 
TCGA Data PortalSMARCA5 
Broad Tumor PortalSMARCA5
OASIS PortalSMARCA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMARCA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMARCA5
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 SMARCA5
DgiDB (Drug Gene Interaction Database)SMARCA5
DoCM (Curated mutations)SMARCA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMARCA5 (select a term)
intoGenSMARCA5
Cancer3DSMARCA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603375   
Orphanet22490   
MedgenSMARCA5
Genetic Testing Registry SMARCA5
NextProtO60264 [Medical]
TSGene8467
GENETestsSMARCA5
Huge Navigator SMARCA5 [HugePedia]
snp3D : Map Gene to Disease8467
BioCentury BCIQSMARCA5
ClinGenSMARCA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8467
Chemical/Pharm GKB GenePA35951
Clinical trialSMARCA5
Miscellaneous
canSAR (ICR)SMARCA5 (select the gene name)
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMARCA5
EVEXSMARCA5
GoPubMedSMARCA5
iHOPSMARCA5
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 : Tue Mar 14 13:28:14 CET 2017

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