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Fusion gene ID: 34795 |
FusionGeneSummary for SMARCA4_MAD1L1 |
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Fusion gene information | Fusion gene name: SMARCA4_MAD1L1 | Fusion gene ID: 34795 | Hgene | Tgene | Gene symbol | SMARCA4 | MAD1L1 | Gene ID | 6597 | 8379 |
Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | mitotic arrest deficient 1 like 1 | |
Synonyms | BAF190|BAF190A|BRG1|CSS4|MRD16|RTPS2|SNF2|SNF2L4|SNF2LB|SWI2|hSNF2b | MAD1|PIG9|TP53I9|TXBP181 | |
Cytomap | 19p13.2 | 7p22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | transcription activator BRG1ATP-dependent helicase SMARCA4BRG1-associated factor 190ABRM/SWI2-related gene 1SNF2-betaSNF2-like 4brahma protein-like 1global transcription activator homologous sequencehomeotic gene regulatormitotic growth and trans | mitotic spindle assembly checkpoint protein MAD1MAD1 mitotic arrest deficient like 1MAD1-like protein 1mitotic arrest deficient 1-like protein 1mitotic checkpoint MAD1 protein homologmitotic-arrest deficient 1, yeast, homolog-like 1tax-binding prote | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P51532 | Q9Y6D9 | |
Ensembl transtripts involved in fusion gene | ENST00000358026, ENST00000344626, ENST00000429416, ENST00000541122, ENST00000589677, ENST00000444061, ENST00000590574, ENST00000413806, ENST00000450717, ENST00000538456, | ENST00000402746, ENST00000399654, ENST00000406869, ENST00000265854, ENST00000486340, | |
Fusion gene scores | * DoF score | 20 X 20 X 15=6000 | 10 X 12 X 9=1080 |
# samples | 32 | 18 | |
** MAII score | log2(32/6000*10)=-4.22881869049588 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/1080*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SMARCA4 [Title/Abstract] AND MAD1L1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SMARCA4 | GO:0006337 | nucleosome disassembly | 8895581 |
Hgene | SMARCA4 | GO:0006338 | chromatin remodeling | 10943845|11726552 |
Hgene | SMARCA4 | GO:0045892 | negative regulation of transcription, DNA-templated | 12065415 |
Hgene | SMARCA4 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15774904|17938176 |
Hgene | SMARCA4 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 11950834|17938176 |
Hgene | SMARCA4 | GO:1902661 | positive regulation of glucose mediated signaling pathway | 22368283 |
Tgene | MAD1L1 | GO:0090235 | regulation of metaphase plate congression | 20133940 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF195576 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000358026 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000358026 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000358026 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000358026 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000358026 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000344626 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000344626 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000344626 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000344626 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000344626 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000429416 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000429416 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000429416 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000429416 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000429416 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000541122 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000541122 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000541122 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000541122 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000541122 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000589677 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000589677 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000589677 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000589677 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000589677 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000444061 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000444061 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000444061 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000444061 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000444061 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000590574 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000590574 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000590574 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000590574 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000590574 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000413806 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000413806 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000413806 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000413806 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000413806 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000450717 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000450717 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000450717 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000450717 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000450717 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000538456 | ENST00000402746 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000538456 | ENST00000399654 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000538456 | ENST00000406869 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000538456 | ENST00000265854 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
intron-intron | ENST00000538456 | ENST00000486340 | SMARCA4 | chr19 | 11151952 | - | MAD1L1 | chr7 | 2137638 | + |
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FusionProtFeatures for SMARCA4_MAD1L1 |
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Hgene | Tgene |
SMARCA4 | MAD1L1 |
Involved in transcriptional activation and repression ofselect genes by chromatin remodeling (alteration of DNA-nucleosometopology). Component of SWI/SNF chromatin remodeling complexesthat carry out key enzymatic activities, changing chromatinstructure by altering DNA-histone contacts within a nucleosome inan ATP-dependent manner. Component of the CREST-BRG1 complex, amultiprotein complex that regulates promoter activation byorchestrating the calcium-dependent release of a repressor complexand the recruitment of an activator complex. In resting neurons,transcription of the c-FOS promoter is inhibited by SMARCA4-dependent recruitment of a phospho-RB1-HDAC repressor complex.Upon calcium influx, RB1 is dephosphorylated by calcineurin, whichleads to release of the repressor complex. At the same time, thereis increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation.The CREST-BRG1 complex also binds to the NR2B promoter, andactivity-dependent induction of NR2B expression involves therelease of HDAC1 and recruitment of CREBBP. Belongs to the neuralprogenitors-specific chromatin remodeling complex (npBAF complex)and the neuron-specific chromatin remodeling complex (nBAFcomplex). During neural development, a switch from astem/progenitor to a postmitotic chromatin remodeling mechanismoccurs as neurons exit the cell cycle and become committed totheir adult state. The transition from proliferating neuralstem/progenitor cells to postmitotic neurons requires a switch insubunit composition of the npBAF and nBAF complexes. As neuralprogenitors exit mitosis and differentiate into neurons, npBAFcomplexes which contain ACTL6A/BAF53A and PHF10/BAF45A, areexchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45Bor DPF3/BAF45C subunits in neuron-specific complexes (nBAF). ThenpBAF complex is essential for the self-renewal/proliferativecapacity of the multipotent neural stem cells. The nBAF complexalong with CREST plays a role regulating the activity of genesessential for dendrite growth. SMARCA4/BAF190A may promote neuralstem cell self-renewal/proliferation by enhancing Notch-dependentproliferative signals, while concurrently making the neural stemcell insensitive to SHH-dependent differentiating cues (Bysimilarity). Acts as a corepressor of ZEB1 to regulate E-cadherintranscription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1. Binds via DLX1 to enhancerslocated in the intergenic region between DLX5 and DLX6 and thisbinding is stabilized by the long non-coding RNA (lncRNA) Evf2 (Bysimilarity). Binds to RNA in a promiscuous manner (By similarity).Binding to RNAs including lncRNA Evf2 leads to inhibition ofSMARCA4 ATPase and chromatin remodeling activities (Bysimilarity). {ECO:0000250|UniProtKB:Q3TKT4,ECO:0000269|PubMed:19571879, ECO:0000269|PubMed:20418909,ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}. | Component of the spindle-assembly checkpoint thatprevents the onset of anaphase until all chromosomes are properlyaligned at the metaphase plate. May recruit MAD2L1 to unattachedkinetochores. Has a role in the correct positioning of the septum.Required for anchoring MAD2L1 to the nuclear periphery. Binds tothe TERT promoter and represses telomerase expression, possibly byinterfering with MYC binding. {ECO:0000269|PubMed:10049595,ECO:0000269|PubMed:12837246, ECO:0000269|PubMed:20133940}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SMARCA4_MAD1L1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for SMARCA4_MAD1L1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SMARCA4_MAD1L1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SMARCA4_MAD1L1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SMARCA4 | C0262584 | Carcinoma, Small Cell | 4 | CTD_human |
Hgene | SMARCA4 | C0919267 | ovarian neoplasm | 4 | CTD_human |
Hgene | SMARCA4 | C0006413 | Burkitt Lymphoma | 1 | CTD_human |
Hgene | SMARCA4 | C0036920 | Sezary Syndrome | 1 | CTD_human |
Hgene | SMARCA4 | C0039981 | Thoracic Neoplasms | 1 | CTD_human |
Hgene | SMARCA4 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
Hgene | SMARCA4 | C0265338 | Coffin-Siris syndrome | 1 | CTD_human;ORPHANET |
Hgene | SMARCA4 | C1261473 | Sarcoma | 1 | CTD_human |
Hgene | SMARCA4 | C3553249 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 | 1 | UNIPROT |
Tgene | MAD1L1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | MAD1L1 | C1336708 | Testicular Germ Cell Tumor | 1 | CTD_human |
Tgene | MAD1L1 | C3495559 | Juvenile arthritis | 1 | CTD_human |