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SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4)

Written2008-04Pedro P Medina, Montse Sanchez-Cespedes
Department of Molecular, Cellular, Developmental Biology, Yale University, 266 Whitney Ave, KBT 938, 06520. New Haven, CT, USA (PPM); Molecular pathology program, Spanish National Cancer Centre (CNIO), Melchor Fernandez Almagro, 3, 28029 Madrid, Spain (MSC)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesSNF2L4
Alias_symbol (synonym)hSNF2b
BRG1
BAF190
SNF2
SWI2
SNF2-BETA
SNF2LB
FLJ39786
HGNC (Hugo) SMARCA4
LocusID (NCBI) 6597
Atlas_Id 42333
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 11071598 and ends at 11172958 bp from pter ( according to hg19-Feb_2009)  [Mapping SMARCA4.png]
Local_order telomere 
Fusion genes
(updated 2016)
OCEL1 (19p13.11) / SMARCA4 (19p13.2)PDSS2 (6q21) / SMARCA4 (19p13.2)SMARCA4 (19p13.2) / C19orf38 (19p13.2)
SMARCA4 (19p13.2) / CARM1 (19p13.2)SMARCA4 (19p13.2) / DNM2 (19p13.2)SMARCA4 (19p13.2) / DOCK6 (19p13.2)
SMARCA4 (19p13.2) / ICAM1 (19p13.2)SMARCA4 (19p13.2) / MAD1L1 (7p22.3)SMARCA4 (19p13.2) / MYO1D (17q11.2)
SMARCA4 (19p13.2) / PPDPF (20q13.33)SMARCA4 (19p13.2) / PTMA (2q37.1)SMARCA4 (19p13.2) / SLU7 (5q33.3)
SMARCA4 (19p13.2) / SMARCA4 (19p13.2)UBB (17p11.2) / SMARCA4 (19p13.2)

DNA/RNA

 
  Relative size of the 33 coding exons of SMARCA4. The entire exon 1 is UTR (untranslated region). Exon numeration corresponds to the prevalent transcript (matching the EST EU430759).
Description The SMARCA4 is also known as BRG1 (hSWI/SNF brahma-related gene). It spans a total genomic size of 101347 bp and it is composed of 33 coding exons of varying lengths and 1 non-coding exon (exon 1).
Transcription The human SMARCA4 transcript has approximately 5500 bp and contains an open reading frame of 4845 bp, predicting a protein of 1614 amino acid residues. There are different transcripts arising from two alternative splicing sites within intron 28 and exon 30, which predict the translation of four different BRG1 protein isoforms. In addition, between exon 26 and 27 and exon 29 and 30 there are two additional exons that may constitute tissue specific transcripts.

Protein

 
  SMARCA4 conserved domains. Proline rich region, containing more than 25% of proline residues in the aminoacid sequence. HSA and BRK domains, containing motifs that may predict binding to DNA. ATPase/helicase domain, contains motifs present in the DEAD helicases superfamily, a diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. Bromodomain, 110 aminoacid domain, found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine.
Description SMARCA4 has a molecular mass of 181349 Da. SMARCA4 is the catalytic subunit of the chromatin-remodelling complex SWI-SNF and influences transcriptional regulation by disrupting histone-DNA contacts in an ATP-dependent manner. In addition to an ATPase, the SWI/SNF complex is composed of a variety of accessory proteins, termed BAFs (BRG-1-associated factors).
Expression Widely expressed.
Localisation SMARCA4 localizes in the nucleus.
Function The SMARCA4 harbours the ATPase activity required for the chromatin remodelling activity of the SWI/SNF complex. This complex uses the energy of ATP hydrolysis to modify the interactions among histones leading to modifications of the chromatin structure and to the regulation of gene expression. The SWI/SNF complex plays a role in differentiation, development and cell cycle control. SMARCA4 binds to or it is related to important tumor suppressor proteins, including BRCA2, LKB1, RB and FANCA. Moreover, the SWI/SNF complex has been shown to modulate the transcriptional activity of steroid receptors (e.g. glucocorticoids receptors, retinoic acid receptors, androgen and estrogen receptors), CMYC and RB. SMARCA4 acts as a tumor suppressor because:
  • i) it induces cell-growth arrest after ectopic expression in deficient tumor cells;
  • ii) SMARCA4-heterozygous mice have an increased predisposition to tumor development and
  • iii) it is biallelically inactivated by homozygous deletions or combinations of deletions and mutations in several types of tumors, specially in lung cancer.
  • Homology The mammalian SWI/SNF complex contains either SMARCA4 or SMARCA2 as its central ATPase subunit. Both ATPases share 80% homology in their aminoacid sequence. However, differences in expression patterns and in the phenotypes of Brm and Brg1 knockout mice suggest specific biological roles between both ATPases.
    SMARCA2 and SMARCA4 are orthologous to the snf2/swi2 gene from S. cerevisiae and to the "brahma" (brm) gene from Drosophila. These encode proteins that are highly conserved along evolution, especially in the ATPase/helicase domain. Actually, SMARCA2 is 56% identical and 72% homologous to the Drosophila brm.

    Implicated in

    Note
    Entity Various cancers
    Note SMARCA4 somatic mutations have been identified in some cancer cell lines including those from the lung, prostate, breast, pancreas and colon. While somatic mutations have been detected in a small subset of lung primary tumors, about one third of the lung cancer cell lines of the non-small cell lung cancer type harbour inactivating SMARCA4 somatic mutations. All mutations are homozygous and most of them predict truncated proteins. The type of mutations commonly observed include nonsense, indels and large deletions. Although less frequently, missense mutations have also been reported. Four of the aminoacid substitutions found in human lung and colorectal cancer, the p.W764R, p.G1160R, p.L1163P and p.S1176C represent changes in highly conserved residues within the ATPase/helicase domain. In vitro generated mutations of some highly conserved aminoacid within this motif lead to a seriously diminished catalytic activity of SMARCA4.
    SMARCA4 germ-line mutations have not been reported so far.
    Prognosis The lost of either SMARCA4 or SMARCA2, detected by immunostaining, predicts decreased survival in some cancer patients.
      

    To be noted

    SMARCA4 is somatically mutated in a significant proportion of tumors, in particular lung cancer. Thus, SMARCA4 is a bona fide tumor suppressor gene and is clearly implicated in cancer development.
    SMARCB1, encoding another subunit of the SWI/SNF complex, is subject to bi-allelic mutations (germinal and somatic) in rhabdoid tumours, a very aggressive form of paediatric cancers.

    Bibliography

    A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes.
    Bultman S, Gebuhr T, Yee D, La Mantia C, Nicholson J, Gilliam A, Randazzo F, Metzger D, Chambon P, Crabtree G, Magnuson T.
    Mol Cell. 2000 Dec;6(6):1287-95.
    PMID 11163203
     
    A Brg1 mutation that uncouples ATPase activity from chromatin remodeling reveals an essential role for SWI/SNF-related complexes in beta-globin expression and erythroid development.
    Bultman SJ, Gebuhr TC, Magnuson T.
    Genes Dev. 2005 Dec 1;19(23):2849-61.
    PMID 16287714
     
    Alteration of hSNF5/INI1/BAF47 detected in rhabdoid cell lines and primary rhabdomyosarcomas but not Wilms' tumors.
    DeCristofaro MF, Betz BL, Wang W, Weissman BE.
    Oncogene. 1999 Dec 9; 18(52): 7559-65.
    PMID 10602515
     
    Characterization of SWI/SNF protein expression in human breast cancer cell lines and other malignancies.
    Decristofaro MF, Betz BL, Rorie CJ, Reisman DN, Wang W, Weissman BE.
    J Cell Physiol. 2001 Jan;186(1):136-45.
    PMID 11147808
     
    Chromatin remodeling factors and BRM/BRG1 expression as prognostic indicators in non-small cell lung cancer.
    Fukuoka J, Fujii T, Shih JH, Dracheva T, Meerzaman D, Player A, Hong K, Settnek S, Gupta A, Buetow K, Hewitt S, Travis WD, Jen J.
    Clin Cancer Res. 2004 Jul 1;10(13):4314-24.
    PMID 15240517
     
    BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription.
    Khavari PA, Peterson CL, Tamkun JW, Mendel DB, Crabtree GR.
    Nature. 1993 Nov 11;366(6451):170-4.
    PMID 8232556
     
    Transcriptional targets of the chromatin-remodelling factor SMARCA4/BRG1 in lung cancer cells.
    Medina PP, Carretero J, Ballestar E, Angulo B, Lopez-Rios F, Esteller M, Sanchez-Cespedes M.
    Hum Mol Genet. 2005 Apr 1;14(7):973-82.
    PMID 15731117
     
    Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines.
    Medina PP, Romero OA, Kohno T, Montuenga LM, Pio R, Yokota J, Sanchez-Cespedes M.
    Hum Mutat. 2008 May;29(5):617-22.
    PMID 18386774
     
    When the SWI/SNF complex remodels...the cell cycle.
    Muchardt C, Yaniv M.
    Oncogene. 2001 May 28;20(24):3067-75.
    PMID 11420722
     
    The SWI/SNF complex--chromatin and cancer.
    Roberts CW, Orkin SH.
    Nat Rev Cancer. 2004 Feb;4(2):133-42.
    PMID 14964309
     
    A conserved Swi2/Snf2 ATPase motif couples ATP hydrolysis to chromatin remodeling.
    Smith CL, Peterson CL.
    Mol Cell Biol. 2005 Jul;25(14):5880-92.
    PMID 15988005
     
    BRG-1 is required for RB-mediated cell cycle arrest.
    Strobeck MW, Knudsen KE, Fribourg AF, DeCristofaro MF, Weissman BE, Imbalzano AN, Knudsen ES.
    Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):7748-53.
    PMID 10884406
     
    Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.
    Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O.
    Nature. 1998 Jul 9;394(6689):203-6.
    PMID 9671307
     
    BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines.
    Wong AK, Shanahan F, Chen Y, Lian L, Ha P, Hendricks K, Ghaffari S, Iliev D, Penn B, Woodland AM, Smith R, Salada G, Carillo A, Laity K, Gupte J, Swedlund B, Tavtigian SV, Teng DH, Lees E.
    Cancer Res. 2000 Nov 1;60(21):6171-7.
    PMID 11085541
     

    Citation

    This paper should be referenced as such :
    Medina, PP ; Sanchez-Cespedes, M
    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4)
    Atlas Genet Cytogenet Oncol Haematol. 2009;13(3):215-217.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/SMARCA4ID42333ch19p13.html


    Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
      Rhabdoid predisposition syndrome


    External links

    Nomenclature
    HGNC (Hugo)SMARCA4   11100
    LRG (Locus Reference Genomic)LRG_878
    Cards
    AtlasSMARCA4ID42333ch19p13
    Entrez_Gene (NCBI)SMARCA4  6597  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
    AliasesBAF190; BAF190A; BRG1; MRD16; 
    RTPS2; SNF2; SNF2L4; SNF2LB; SWI2; hSNF2b
    GeneCards (Weizmann)SMARCA4
    Ensembl hg19 (Hinxton)ENSG00000127616 [Gene_View]  chr19:11071598-11172958 [Contig_View]  SMARCA4 [Vega]
    Ensembl hg38 (Hinxton)ENSG00000127616 [Gene_View]  chr19:11071598-11172958 [Contig_View]  SMARCA4 [Vega]
    ICGC DataPortalENSG00000127616
    TCGA cBioPortalSMARCA4
    AceView (NCBI)SMARCA4
    Genatlas (Paris)SMARCA4
    WikiGenes6597
    SOURCE (Princeton)SMARCA4
    Genetics Home Reference (NIH)SMARCA4
    Genomic and cartography
    GoldenPath hg19 (UCSC)SMARCA4  -     chr19:11071598-11172958 +  19p13.3   [Description]    (hg19-Feb_2009)
    GoldenPath hg38 (UCSC)SMARCA4  -     19p13.3   [Description]    (hg38-Dec_2013)
    EnsemblSMARCA4 - 19p13.3 [CytoView hg19]  SMARCA4 - 19p13.3 [CytoView hg38]
    Mapping of homologs : NCBISMARCA4 [Mapview hg19]  SMARCA4 [Mapview hg38]
    OMIM603254   613325   614609   
    Gene and transcription
    Genbank (Entrez)AB209313 AI695800 AK026573 AK055168 AK097105
    RefSeq transcript (Entrez)NM_001128844 NM_001128845 NM_001128846 NM_001128847 NM_001128848 NM_001128849 NM_003072
    RefSeq genomic (Entrez)NC_000019 NC_018930 NG_011556 NT_011295 NW_004929414
    Consensus coding sequences : CCDS (NCBI)SMARCA4
    Cluster EST : UnigeneHs.327527 [ NCBI ]
    CGAP (NCI)Hs.327527
    Alternative Splicing GalleryENSG00000127616
    Gene ExpressionSMARCA4 [ NCBI-GEO ]   SMARCA4 [ EBI - ARRAY_EXPRESS ]   SMARCA4 [ SEEK ]   SMARCA4 [ MEM ]
    Gene Expression Viewer (FireBrowse)SMARCA4 [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)6597
    GTEX Portal (Tissue expression)SMARCA4
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtP51532   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtP51532  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProP51532
    Splice isoforms : SwissVarP51532
    Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
    PhosPhoSitePlusP51532
    Domaine pattern : Prosite (Expaxy)BROMODOMAIN_1 (PS00633)    BROMODOMAIN_2 (PS50014)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    HSA (PS51204)    QLQ (PS51666)   
    Domains : Interpro (EBI)BRG1    BRK_domain    Bromodomain    Bromodomain_CS    Gln-Leu-Gln_QLQ    Helicase_ATP-bd    Helicase_C    HSA_dom    P-loop_NTPase    SnAC    SNF2_N   
    Domain families : Pfam (Sanger)BRK (PF07533)    Bromodomain (PF00439)    Helicase_C (PF00271)    HSA (PF07529)    QLQ (PF08880)    SnAC (PF14619)    SNF2_N (PF00176)   
    Domain families : Pfam (NCBI)pfam07533    pfam00439    pfam00271    pfam07529    pfam08880    pfam14619    pfam00176   
    Domain families : Smart (EMBL)BRK (SM00592)  BROMO (SM00297)  DEXDc (SM00487)  HELICc (SM00490)  HSA (SM00573)  QLQ (SM00951)  
    Conserved Domain (NCBI)SMARCA4
    DMDM Disease mutations6597
    Blocks (Seattle)SMARCA4
    PDB (SRS)2GRC    2H60    3UVD    5DKD   
    PDB (PDBSum)2GRC    2H60    3UVD    5DKD   
    PDB (IMB)2GRC    2H60    3UVD    5DKD   
    PDB (RSDB)2GRC    2H60    3UVD    5DKD   
    Structural Biology KnowledgeBase2GRC    2H60    3UVD    5DKD   
    SCOP (Structural Classification of Proteins)2GRC    2H60    3UVD    5DKD   
    CATH (Classification of proteins structures)2GRC    2H60    3UVD    5DKD   
    SuperfamilyP51532
    Human Protein AtlasENSG00000127616
    Peptide AtlasP51532
    HPRD04459
    IPIIPI00293426   IPI00923468   IPI00900269   IPI00900338   IPI00900285   IPI01016040   IPI00900328   IPI01015598   
    Protein Interaction databases
    DIP (DOE-UCLA)P51532
    IntAct (EBI)P51532
    FunCoupENSG00000127616
    BioGRIDSMARCA4
    STRING (EMBL)SMARCA4
    ZODIACSMARCA4
    Ontologies - Pathways
    QuickGOP51532
    Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription coactivator activity  RNA polymerase I CORE element sequence-specific DNA binding  p53 binding  neural retina development  transcription coactivator activity  transcription coactivator activity  transcription corepressor activity  helicase activity  protein binding  ATP binding  extracellular space  nucleus  nucleoplasm  nucleolus  nucleosome disassembly  chromatin remodeling  chromatin remodeling  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter during mitosis  spermatid development  nervous system development  DNA-dependent ATPase activity  transcription factor binding  membrane  SWI/SNF complex  positive regulation of Wnt signaling pathway  negative regulation of cell growth  Tat protein binding  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein complex  positive regulation by host of viral transcription  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  androgen receptor binding  positive regulation of sequence-specific DNA binding transcription factor activity  negative regulation of androgen receptor signaling pathway  DNA polymerase binding  lysine-acetylated histone binding  npBAF complex  npBAF complex  nBAF complex  positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  positive regulation of glucose mediated signaling pathway  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  beta-catenin-TCF complex assembly  negative regulation of G1/S transition of mitotic cell cycle  
    Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription coactivator activity  RNA polymerase I CORE element sequence-specific DNA binding  p53 binding  neural retina development  transcription coactivator activity  transcription coactivator activity  transcription corepressor activity  helicase activity  protein binding  ATP binding  extracellular space  nucleus  nucleoplasm  nucleolus  nucleosome disassembly  chromatin remodeling  chromatin remodeling  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter during mitosis  spermatid development  nervous system development  DNA-dependent ATPase activity  transcription factor binding  membrane  SWI/SNF complex  positive regulation of Wnt signaling pathway  negative regulation of cell growth  Tat protein binding  nucleosomal DNA binding  ATP-dependent chromatin remodeling  protein complex  positive regulation by host of viral transcription  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  androgen receptor binding  positive regulation of sequence-specific DNA binding transcription factor activity  negative regulation of androgen receptor signaling pathway  DNA polymerase binding  lysine-acetylated histone binding  npBAF complex  npBAF complex  nBAF complex  positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  positive regulation of glucose mediated signaling pathway  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  beta-catenin-TCF complex assembly  negative regulation of G1/S transition of mitotic cell cycle  
    Pathways : BIOCARTAControl of Gene Expression by Vitamin D Receptor [Genes]    Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes]   
    REACTOMEP51532 [protein]
    REACTOME PathwaysR-HSA-201722 formation of the beta-catenin:TCF transactivating complex [pathway]
    REACTOME PathwaysR-HSA-3214858 RMTs methylate histone arginines [pathway]
    NDEx NetworkSMARCA4
    Atlas of Cancer Signalling NetworkSMARCA4
    Wikipedia pathwaysSMARCA4
    Orthology - Evolution
    OrthoDB6597
    GeneTree (enSembl)ENSG00000127616
    Phylogenetic Trees/Animal Genes : TreeFamSMARCA4
    HOVERGENP51532
    HOGENOMP51532
    Homologs : HomoloGeneSMARCA4
    Homology/Alignments : Family Browser (UCSC)SMARCA4
    Gene fusions - Rearrangements
    Fusion : MitelmanOCEL1/SMARCA4 [19p13.11/19p13.2]  [t(19;19)(p13;p13)]  
    Fusion : MitelmanPDSS2/SMARCA4 [6q21/19p13.2]  [t(6;19)(q21;p13)]  
    Fusion : MitelmanSMARCA4/C19orf38 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
    Fusion : MitelmanSMARCA4/CARM1 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
    Fusion : MitelmanSMARCA4/DNM2 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
    Fusion : MitelmanSMARCA4/DOCK6 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
    Fusion : MitelmanSMARCA4/ICAM1 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
    Fusion: TCGAOCEL1 19p13.11 SMARCA4 19p13.2 BRCA
    Fusion: TCGAPDSS2 6q21 SMARCA4 19p13.2 BRCA
    Fusion: TCGASMARCA4 19p13.2 C19orf38 19p13.2 LUSC
    Fusion: TCGASMARCA4 19p13.2 CARM1 19p13.2 BRCA
    Fusion: TCGASMARCA4 19p13.2 DNM2 19p13.2 BRCA
    Fusion: TCGASMARCA4 19p13.2 DOCK6 19p13.2 LUAD
    Fusion: TCGASMARCA4 19p13.2 ICAM1 19p13.2 BRCA
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerSMARCA4 [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)SMARCA4
    dbVarSMARCA4
    ClinVarSMARCA4
    1000_GenomesSMARCA4 
    Exome Variant ServerSMARCA4
    ExAC (Exome Aggregation Consortium)SMARCA4 (select the gene name)
    Genetic variants : HAPMAP6597
    Genomic Variants (DGV)SMARCA4 [DGVbeta]
    DECIPHER (Syndromes)19:11071598-11172958  ENSG00000127616
    CONAN: Copy Number AnalysisSMARCA4 
    Mutations
    ICGC Data PortalSMARCA4 
    TCGA Data PortalSMARCA4 
    Broad Tumor PortalSMARCA4
    OASIS PortalSMARCA4 [ Somatic mutations - Copy number]
    Cancer Gene: CensusSMARCA4 
    Somatic Mutations in Cancer : COSMICSMARCA4  [overview]  [genome browser]  [tissue]  [distribution]  
    Mutations and Diseases : HGMDSMARCA4
    intOGen PortalSMARCA4
    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)Mendelian genes
    BioMutasearch SMARCA4
    DgiDB (Drug Gene Interaction Database)SMARCA4
    DoCM (Curated mutations)SMARCA4 (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)SMARCA4 (select a term)
    intoGenSMARCA4
    NCG5 (London)SMARCA4
    Cancer3DSMARCA4(select the gene name)
    Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM603254    613325    614609   
    Orphanet321    19153    22495   
    MedgenSMARCA4
    Genetic Testing Registry SMARCA4
    NextProtP51532 [Medical]
    TSGene6597
    GENETestsSMARCA4
    Huge Navigator SMARCA4 [HugePedia]
    snp3D : Map Gene to Disease6597
    BioCentury BCIQSMARCA4
    ClinGenSMARCA4 (curated)
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD6597
    Chemical/Pharm GKB GenePA35950
    Drug Sensitivity SMARCA4
    Clinical trialSMARCA4
    Miscellaneous
    canSAR (ICR)SMARCA4 (select the gene name)
    Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=SMARCA4
    Probes
    Litterature
    PubMed347 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineSMARCA4
    EVEXSMARCA4
    GoPubMedSMARCA4
    iHOPSMARCA4
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    indexed on : Fri Nov 18 20:00:26 CET 2016

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