Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Alias (NCBI)ISWI
SNF2H
WCRF135
hISWI
hSNF2H
HGNC (Hugo) SMARCA5
HGNC Alias symbhSNF2H
hISWI
ISWI
LocusID (NCBI) 8467
Atlas_Id 42334
Location 4q31.21  [Link to chromosome band 4q31]
Location_base_pair Starts at 143513702 and ends at 143557486 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)
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


External links

Nomenclature
HGNC (Hugo)SMARCA5   11101
Cards
Entrez_Gene (NCBI)SMARCA5    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]
Ensembl hg38 (Hinxton)ENSG00000153147 [Gene_View]  ENSG00000153147 [Sequence]  chr4:143513702-143557486 [Contig_View]  SMARCA5 [Vega]
ICGC DataPortalENSG00000153147
TCGA cBioPortalSMARCA5
AceView (NCBI)SMARCA5
Genatlas (Paris)SMARCA5
SOURCE (Princeton)SMARCA5
Genetics Home Reference (NIH)SMARCA5
Genomic and cartography
GoldenPath hg38 (UCSC)SMARCA5  -     chr4:143513702-143557486 +  4q31.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMARCA5  -     4q31.21   [Description]    (hg19-Feb_2009)
GoldenPathSMARCA5 - 4q31.21 [CytoView hg19]  SMARCA5 - 4q31.21 [CytoView hg38]
ImmunoBaseENSG00000153147
genome Data Viewer NCBISMARCA5 [Mapview hg19]  
OMIM603375   
Gene and transcription
Genbank (Entrez)AB010882 AF086544 AK123439 AK302841 AK308424
RefSeq transcript (Entrez)NM_003601
Consensus coding sequences : CCDS (NCBI)SMARCA5
Alternative Splicing GalleryENSG00000153147
Gene ExpressionSMARCA5 [ NCBI-GEO ]   SMARCA5 [ EBI - ARRAY_EXPRESS ]   SMARCA5 [ SEEK ]   SMARCA5 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCA5 [ Firebrowse - Broad ]
GenevisibleExpression of SMARCA5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8467
GTEX Portal (Tissue expression)SMARCA5
Human Protein AtlasENSG00000153147-SMARCA5 [pathology]   [cell]   [tissue]
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
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusO60264
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    SANT (PS51293)   
Domains : Interpro (EBI)Helicase_ATP-bd    Helicase_C    Homeobox-like_sf    ISWI_HAND-dom    ISWI_HAND-dom_sf    P-loop_NTPase    SANT/Myb    SANT_dom    SLIDE    SNF2-like_sf    SNF2_N   
Domain families : Pfam (Sanger)HAND (PF09110)    Helicase_C (PF00271)    SLIDE (PF09111)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam09110    pfam00271    pfam09111    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  SANT (SM00717)  
Conserved Domain (NCBI)SMARCA5
PDB (RSDB)6NE3   
PDB Europe6NE3   
PDB (PDBSum)6NE3   
PDB (IMB)6NE3   
Structural Biology KnowledgeBase6NE3   
SCOP (Structural Classification of Proteins)6NE3   
CATH (Classification of proteins structures)6NE3   
SuperfamilyO60264
AlphaFold pdb e-kbO60264   
Human Protein Atlas [tissue]ENSG00000153147-SMARCA5 [tissue]
HPRD04538
Protein Interaction databases
DIP (DOE-UCLA)O60264
IntAct (EBI)O60264
BioGRIDSMARCA5
STRING (EMBL)SMARCA5
ZODIACSMARCA5
Ontologies - Pathways
QuickGOO60264
Ontology : AmiGOrDNA heterochromatin assembly  condensed chromosome  fibrillar center  DNA binding  DNA binding  helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  chromatin silencing complex  cytosol  double-strand break repair  nucleosome assembly  chromatin remodeling  DNA-templated transcription, initiation  regulation of transcription by RNA polymerase II  ATPase, acting on DNA  nucleosome positioning  nucleosome positioning  NURF complex  hydrolase activity  ATPase  RSF complex  nucleosome binding  CENP-A containing nucleosome assembly  histone binding  ATP-dependent chromatin remodeling  ATP-dependent chromatin remodeling  intracellular membrane-bounded organelle  nuclear replication fork  positive regulation of gene expression, epigenetic  positive regulation of transcription by RNA polymerase II  nucleosome-dependent ATPase activity  cellular response to leukemia inhibitory factor  
Ontology : EGO-EBIrDNA heterochromatin assembly  condensed chromosome  fibrillar center  DNA binding  DNA binding  helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  chromatin silencing complex  cytosol  double-strand break repair  nucleosome assembly  chromatin remodeling  DNA-templated transcription, initiation  regulation of transcription by RNA polymerase II  ATPase, acting on DNA  nucleosome positioning  nucleosome positioning  NURF complex  hydrolase activity  ATPase  RSF complex  nucleosome binding  CENP-A containing nucleosome assembly  histone binding  ATP-dependent chromatin remodeling  ATP-dependent chromatin remodeling  intracellular membrane-bounded organelle  nuclear replication fork  positive regulation of gene expression, epigenetic  positive regulation of transcription by RNA polymerase II  nucleosome-dependent ATPase activity  cellular response to leukemia inhibitory factor  
NDEx NetworkSMARCA5
Atlas of Cancer Signalling NetworkSMARCA5
Wikipedia pathwaysSMARCA5
Orthology - Evolution
OrthoDB8467
GeneTree (enSembl)ENSG00000153147
Phylogenetic Trees/Animal Genes : TreeFamSMARCA5
Homologs : HomoloGeneSMARCA5
Homology/Alignments : Family Browser (UCSC)SMARCA5
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1/SMARCA5 [22q12.2/4q31.21]  
Fusion : MitelmanTBC1D9/SMARCA5 [4q31.21/4q31.21]  
Fusion PortalTBC1D9 4q31.21 SMARCA5 4q31.21 BRCA
Fusion : QuiverSMARCA5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCA5
dbVarSMARCA5
ClinVarSMARCA5
MonarchSMARCA5
1000_GenomesSMARCA5 
Exome Variant ServerSMARCA5
GNOMAD BrowserENSG00000153147
Varsome BrowserSMARCA5
Genomic Variants (DGV)SMARCA5 [DGVbeta]
DECIPHERSMARCA5 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DSMARCA5
Mutations and Diseases : HGMDSMARCA5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
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)
Cancer3DSMARCA5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603375   
Orphanet22490   
DisGeNETSMARCA5
MedgenSMARCA5
Genetic Testing Registry SMARCA5
NextProtO60264 [Medical]
GENETestsSMARCA5
Target ValidationSMARCA5
Huge Navigator SMARCA5 [HugePedia]
ClinGenSMARCA5
Clinical trials, drugs, therapy
MyCancerGenomeSMARCA5
Protein Interactions : CTDSMARCA5
Pharm GKB GenePA35951
PharosO60264
Clinical trialSMARCA5
Miscellaneous
canSAR (ICR)SMARCA5
HarmonizomeSMARCA5
DataMed IndexSMARCA5
Probes
Litterature
PubMed187 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMARCA5
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 : Wed Sep 15 22:37:43 CEST 2021

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