| OCEL1 (19p13.11) / SMARCA4 (19p13.2) | PDSS2 (6q21) / SMARCA4 (19p13.2) | SMARCA4 (19p13.2) / C19orf38 (19p13.2) |
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SMARCA4 (19p13.2) / CARM1 (19p13.2) | SMARCA4 (19p13.2) / DHPS (19p13.13) | SMARCA4 (19p13.2) / DNM2 (19p13.2) |
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SMARCA4 (19p13.2) / DOCK6 (19p13.2) | SMARCA4 (19p13.2) / ICAM1 (19p13.2) | SMARCA4 (19p13.2) / MAD1L1 (7p22.3) |
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SMARCA4 (19p13.2) / MYO1D (17q11.2) | SMARCA4 (19p13.2) / PPDPF (20q13.33) | SMARCA4 (19p13.2) / PTMA (2q37.1) |
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SMARCA4 (19p13.2) / SLU7 (5q33.3) | SMARCA4 (19p13.2) / SMARCA4 (19p13.2) | SMARCA4 (19p13.2) / TYK2 (19p13.2) |
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UBB (17p11.2) / SMARCA4 (19p13.2) |
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| 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. |
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 |
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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 |
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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 |
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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 |
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When the SWI/SNF complex remodels...the cell cycle. |
Muchardt C, Yaniv M. |
Oncogene. 2001 May 28;20(24):3067-75. |
PMID 11420722 |
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The SWI/SNF complex--chromatin and cancer. |
Roberts CW, Orkin SH. |
Nat Rev Cancer. 2004 Feb;4(2):133-42. |
PMID 14964309 |
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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 |
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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 |
|
| Nomenclature |
HGNC (Hugo) | SMARCA4 11100 |
LRG (Locus Reference Genomic) | LRG_878 |
| Cards |
Atlas | SMARCA4ID42333ch19p13 |
Entrez_Gene (NCBI) | SMARCA4 "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4" |
Aliases | BAF190; BAF190A; BRG1; CSS4; |
| MRD16; RTPS2; SNF2; SNF2-beta; SNF2L4; SNF2LB; SWI2; hSNF2b |
GeneCards (Weizmann) | SMARCA4 |
Ensembl hg19 (Hinxton) | ENSG00000127616 [Gene_View] |
Ensembl hg38 (Hinxton) | ENSG00000127616 [Gene_View]  ENSG00000127616 [Sequence] chr19:10961030-11062271 [Contig_View] SMARCA4 [Vega] |
ICGC DataPortal | ENSG00000127616 |
TCGA cBioPortal | SMARCA4 |
AceView (NCBI) | SMARCA4 |
Genatlas (Paris) | SMARCA4 |
SOURCE (Princeton) | SMARCA4 |
Genetics Home Reference (NIH) | SMARCA4 |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | SMARCA4 - chr19:10961030-11062271 + 19p13.2 [Description] (hg38-Dec_2013) |
GoldenPath hg19 (UCSC) | SMARCA4 - 19p13.2 [Description] (hg19-Feb_2009) |
GoldenPath | SMARCA4 - 19p13.2 [CytoView hg19] SMARCA4 - 19p13.2 [CytoView hg38] |
ImmunoBase | ENSG00000127616 |
genome Data Viewer NCBI | SMARCA4 [Mapview hg19] |
OMIM | 603254 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_001374457 NM_003072 |
RefSeq genomic (Entrez) | |
Consensus coding sequences : CCDS (NCBI) | SMARCA4 |
Alternative Splicing Gallery | ENSG00000127616 |
Gene Expression | SMARCA4 [ NCBI-GEO ] SMARCA4 [ EBI - ARRAY_EXPRESS ]
SMARCA4 [ SEEK ] SMARCA4 [ MEM ] |
Gene Expression Viewer (FireBrowse) | SMARCA4 [ Firebrowse - Broad ] |
Genevisible | Expression of SMARCA4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]   |
BioGPS (Tissue expression) | 6597 |
GTEX Portal (Tissue expression) | SMARCA4 |
Human Protein Atlas | ENSG00000127616-SMARCA4 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
UniProt/SwissProt | P51532 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
NextProt | P51532 [Sequence] [Exons] [Medical] [Publications] |
With graphics : InterPro | P51532 |
Splice isoforms : SwissVar | P51532 |
Catalytic activity : Enzyme | 3.6.4.- [ Enzyme-Expasy ] 3.6.4.-3.6.4.- [ IntEnz-EBI ] 3.6.4.- [ BRENDA ] 3.6.4.- [ KEGG ] [ MEROPS ] |
PhosPhoSitePlus | P51532 |
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 BRK_sf Bromodomain Bromodomain-like_sf Bromodomain_CS Gln-Leu-Gln_QLQ Helicase_ATP-bd Helicase_C HSA_dom P-loop_NTPase SnAC SNF2-like_sf 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) SnAC (SM01314) |
Conserved Domain (NCBI) | SMARCA4 |
Blocks (Seattle) | SMARCA4 |
PDB (RSDB) | 2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2 |
PDB Europe | 2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2 |
PDB (PDBSum) | 2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2 |
PDB (IMB) | 2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2 |
Structural Biology KnowledgeBase | 2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2 |
SCOP (Structural Classification of Proteins) | 2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2 |
CATH (Classification of proteins structures) | 2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2 |
Superfamily | P51532 |
Human Protein Atlas [tissue] | ENSG00000127616-SMARCA4 [tissue] |
Peptide Atlas | P51532 |
HPRD | 04459 |
IPI | IPI00293426 IPI00923468 IPI00900269 IPI00900338 IPI00900285 IPI01016040 IPI00900328 IPI01015598 |
| Protein Interaction databases |
DIP (DOE-UCLA) | P51532 |
IntAct (EBI) | P51532 |
Complex Portal (EBI) | P51532 "CPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant |
| P51532 CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant |
| P51532 CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant |
| P51532 CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant |
| P51532 CPX-1199 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant |
| P51532 CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant |
| P51532 CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant |
| P51532 CPX-1195 Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex |
| P51532 CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant |
| P51532 CPX-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant |
| P51532 CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant |
| P51532 CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant |
| P51532 CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant |
| P51532 CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant |
| P51532 CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant |
| P51532 CPX-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant |
| P51532 CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant |
| P51532 CPX-4225 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant |
| P51532 CPX-4226 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant |
| P51532 CPX-4206 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA4 variant |
| P51532 CPX-4207 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA4 variant" |
BioGRID | SMARCA4 |
STRING (EMBL) | SMARCA4 |
ZODIAC | SMARCA4 |
| Ontologies - Pathways |
QuickGO | P51532 |
Ontology : AmiGO | "negative regulation of transcription by RNA polymerase II nuclear chromatin nuclear chromatin RNA polymerase II proximal promoter sequence-specific DNA binding RNA polymerase I CORE element sequence-specific DNA binding RNA polymerase I preinitiation complex assembly p53 binding neural retina development DNA binding transcription coactivator activity transcription coactivator activity transcription coactivator activity transcription corepressor activity RNA binding helicase activity protein binding ATP binding extracellular space nucleus nucleus nucleoplasm nucleolus chromatin organization nucleosome disassembly chromatin remodeling chromatin remodeling chromatin remodeling regulation of transcription by RNA polymerase II nervous system development DNA-dependent ATPase activity DNA-dependent ATPase activity transcription factor binding transcription factor binding membrane SWI/SNF complex positive regulation of Wnt signaling pathway negative regulation of cell growth Tat protein binding nucleosomal DNA binding protein-containing complex interleukin-7-mediated signaling pathway ATP-dependent chromatin remodeling ATP-dependent chromatin remodeling 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 by RNA polymerase II positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II protein N-terminus binding androgen receptor binding positive regulation of 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 nucleolar large rRNA by RNA polymerase I positive regulation of glucose mediated signaling pathway positive regulation of pri-miRNA transcription by RNA polymerase II beta-catenin-TCF complex assembly" |
Ontology : EGO-EBI | "negative regulation of transcription by RNA polymerase II nuclear chromatin nuclear chromatin RNA polymerase II proximal promoter sequence-specific DNA binding RNA polymerase I CORE element sequence-specific DNA binding RNA polymerase I preinitiation complex assembly p53 binding neural retina development DNA binding transcription coactivator activity transcription coactivator activity transcription coactivator activity transcription corepressor activity RNA binding helicase activity protein binding ATP binding extracellular space nucleus nucleus nucleoplasm nucleolus chromatin organization nucleosome disassembly chromatin remodeling chromatin remodeling chromatin remodeling regulation of transcription by RNA polymerase II nervous system development DNA-dependent ATPase activity DNA-dependent ATPase activity transcription factor binding transcription factor binding membrane SWI/SNF complex positive regulation of Wnt signaling pathway negative regulation of cell growth Tat protein binding nucleosomal DNA binding protein-containing complex interleukin-7-mediated signaling pathway ATP-dependent chromatin remodeling ATP-dependent chromatin remodeling 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 by RNA polymerase II positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II protein N-terminus binding androgen receptor binding positive regulation of 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 nucleolar large rRNA by RNA polymerase I positive regulation of glucose mediated signaling pathway positive regulation of pri-miRNA transcription by RNA polymerase II beta-catenin-TCF complex assembly" |
REACTOME | P51532 [protein] |
REACTOME Pathways | R-HSA-8939243 [pathway] |
NDEx Network | SMARCA4 |
Atlas of Cancer Signalling Network | SMARCA4 |
Wikipedia pathways | SMARCA4 |
| Orthology - Evolution |
OrthoDB | 6597 |
GeneTree (enSembl) | ENSG00000127616 |
Phylogenetic Trees/Animal Genes : TreeFam | SMARCA4 |
HOGENOM | P51532 |
Homologs : HomoloGene | SMARCA4 |
Homology/Alignments : Family Browser (UCSC) | SMARCA4 |
| Gene fusions - Rearrangements |
Fusion : Mitelman | OCEL1/SMARCA4 [19p13.11/19p13.2]   |
Fusion : Mitelman | PDSS2/SMARCA4 [6q21/19p13.2]   |
Fusion : Mitelman | SMARCA4/C19orf38 [19p13.2/19p13.2]   |
Fusion : Mitelman | SMARCA4/CARM1 [19p13.2/19p13.2]   |
Fusion : Mitelman | SMARCA4/DNM2 [19p13.2/19p13.2]   |
Fusion : Mitelman | SMARCA4/DOCK6 [19p13.2/19p13.2]   |
Fusion : Mitelman | SMARCA4/ICAM1 [19p13.2/19p13.2]   |
Fusion Portal | OCEL1 19p13.11 SMARCA4 19p13.2 BRCA |
Fusion Portal | PDSS2 6q21 SMARCA4 19p13.2 BRCA |
Fusion Portal | SMARCA4 19p13.2 C19orf38 19p13.2 LUSC |
Fusion Portal | SMARCA4 19p13.2 CARM1 19p13.2 BRCA |
Fusion Portal | SMARCA4 19p13.2 DNM2 19p13.2 BRCA |
Fusion Portal | SMARCA4 19p13.2 DOCK6 19p13.2 LUAD |
Fusion Portal | SMARCA4 19p13.2 ICAM1 19p13.2 BRCA |
Fusion : Fusion_Hub | AC020656.1--SMARCA4 ATN1--SMARCA4 C19ORF38--SMARCA4 CARM1--SMARCA4 CDC123--SMARCA4 DHPS--SMARCA4 DNM2--SMARCA4 ECSIT--SMARCA4 EEF2--SMARCA4 FN1--SMARCA4 IL27RA--SMARCA4 ILKAP--SMARCA4 LAPTM5--SMARCA4 LDLR--SMARCA4 LHFPL2--SMARCA4 |
| MAF--SMARCA4 NCKAP1L--SMARCA4 NUPL1--SMARCA4 OCEL1--SMARCA4 OSTF1--SMARCA4 PDSS2--SMARCA4 PTPRZ1--SMARCA4 RABAC1--SMARCA4 RP11-1143G9.4--SMARCA4 RPS16--SMARCA4 RYR1--SMARCA4 SLC25A42--SMARCA4 SMARCA2--SMARCA4 SMARCA4--C19ORF38 SMARCA4--CARM1 |
| SMARCA4--DNM2 SMARCA4--DOCK6 SMARCA4--DUS3L SMARCA4--GNAS SMARCA4--HSP90AB1 SMARCA4--ICAM1 SMARCA4--KDM4B SMARCA4--LDLR SMARCA4--LINC00598 SMARCA4--MAD1L1 SMARCA4--MRPL20 SMARCA4--MYH11 SMARCA4--MYO1D SMARCA4--PPDPF SMARCA4--PTMA |
| SMARCA4--RGL3 SMARCA4--RNF216 SMARCA4--SH2D6 SMARCA4--SLC44A2 SMARCA4--SLU7 SMARCA4--SMARCA2 SMARCA4--SMARCA4 SMARCA4--TG SMARCA4--TIMM29 SMARCA4--TYK2 SMARCA4--WDR27 SMARCA4--ZNF254 STARD3--SMARCA4 TINAGL1--SMARCA4 TMED1--SMARCA4 |
| TMEM184B--SMARCA4 UBB--SMARCA4 |
Fusion : Quiver | SMARCA4 |
| Polymorphisms : SNP and Copy number variants |
NCBI Variation Viewer | SMARCA4 [hg38] |
dbVar | SMARCA4 |
ClinVar | SMARCA4 |
Monarch | SMARCA4 |
1000_Genomes | SMARCA4 |
Exome Variant Server | SMARCA4 |
GNOMAD Browser | ENSG00000127616 |
Varsome Browser | SMARCA4 |
Genomic Variants (DGV) | SMARCA4 [DGVbeta] |
DECIPHER | SMARCA4 [patients] [syndromes] [variants] [genes] |
CONAN: Copy Number Analysis | SMARCA4 |
| Mutations |
ICGC Data Portal | SMARCA4 |
TCGA Data Portal | SMARCA4 |
Broad Tumor Portal | SMARCA4 |
OASIS Portal | SMARCA4 [ Somatic mutations - Copy number] |
Cancer Gene: Census | SMARCA4 |
Somatic Mutations in Cancer : COSMIC | SMARCA4 [overview] [genome browser] [tissue] [distribution] |
Somatic Mutations in Cancer : COSMIC3D | SMARCA4 |
Mutations and Diseases : HGMD | SMARCA4 |
intOGen Portal | SMARCA4 |
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 |
BioMuta | search 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) |
intoGen | SMARCA4 |
OncoKB | SMARCA4 |
NCG6 (London) | select SMARCA4 |
Cancer3D | SMARCA4(select the gene name) |
Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
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OMIM | 603254 613325 614609 |
Orphanet | 321 19153 22495 |
DisGeNET | SMARCA4 |
Medgen | SMARCA4 |
Genetic Testing Registry | SMARCA4
|
NextProt | P51532 [Medical] |
GENETests | SMARCA4 |
Target Validation | SMARCA4 |
Huge Navigator |
SMARCA4 [HugePedia] |
ClinGen | SMARCA4 (curated) |
| Clinical trials, drugs, therapy |
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MyCancerGenome | SMARCA4 |
Protein Interactions : CTD | |
Pharm GKB Gene | PA35950 |
Pharos | P51532 |
Drug Sensitivity | SMARCA4 |
Clinical trial | SMARCA4 |
| Miscellaneous |
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canSAR (ICR) | SMARCA4 (select the gene name) |
Harmonizome | SMARCA4 |
DataMed Index | SMARCA4 |
Other database | http://cancergenome.broadinstitute.org/index.php?tgene=SMARCA4 |
| Probes |
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| Litterature |
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PubMed | 499 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
EVEX | SMARCA4 |