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Fusion gene ID: 34838 |
FusionGeneSummary for SMARCD1_ATP2C2 |
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Fusion gene information | Fusion gene name: SMARCD1_ATP2C2 | Fusion gene ID: 34838 | Hgene | Tgene | Gene symbol | SMARCD1 | ATP2C2 | Gene ID | 6602 | 9914 |
Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 | ATPase secretory pathway Ca2+ transporting 2 | |
Synonyms | BAF60A|CRACD1|Rsc6p | SPCA2 | |
Cytomap | 12q13.12 | 16q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 160 kDa BRG-1/Brm-associated factor subunit ABRG1-associated factor 60ASWI/SNF complex 60 kDa subunit ASwp73-like proteinchromatin remodeling complex BAF60A s | calcium-transporting ATPase type 2C member 2ATPase 2C2ATPase, Ca++ transporting, type 2C, member 2secretory pathway Ca(2+)-ATPase 2secretory pathway calcium ATPase 2 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q96GM5 | O75185 | |
Ensembl transtripts involved in fusion gene | ENST00000394963, ENST00000381513, ENST00000548573, ENST00000549526, | ENST00000262429, ENST00000416219, ENST00000420010, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 5 X 2=30 |
# samples | 1 | 5 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SMARCD1 [Title/Abstract] AND ATP2C2 [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 | SMARCD1 | GO:0006337 | nucleosome disassembly | 8895581 |
Hgene | SMARCD1 | GO:0006338 | chromatin remodeling | 11726552 |
![]() (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 | AW389291 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
* 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 |
Frame-shift | ENST00000394963 | ENST00000262429 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
Frame-shift | ENST00000394963 | ENST00000416219 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
5CDS-3UTR | ENST00000394963 | ENST00000420010 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
Frame-shift | ENST00000381513 | ENST00000262429 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
Frame-shift | ENST00000381513 | ENST00000416219 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
5CDS-3UTR | ENST00000381513 | ENST00000420010 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
Frame-shift | ENST00000548573 | ENST00000262429 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
Frame-shift | ENST00000548573 | ENST00000416219 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
5CDS-3UTR | ENST00000548573 | ENST00000420010 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
intron-3CDS | ENST00000549526 | ENST00000262429 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
intron-3CDS | ENST00000549526 | ENST00000416219 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
intron-3UTR | ENST00000549526 | ENST00000420010 | SMARCD1 | chr12 | 50484310 | + | ATP2C2 | chr16 | 84456272 | + |
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FusionProtFeatures for SMARCD1_ATP2C2 |
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Hgene | Tgene |
SMARCD1 | ATP2C2 |
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 (PubMed:8804307). 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 (By similarity). Has a stronginfluence on vitamin D-mediated transcriptional activity from anenhancer vitamin D receptor element (VDRE). May be a link betweenmammalian SWI-SNF-like chromatin remodeling complexes and thevitamin D receptor (VDR) heterodimer (PubMed:14698202). Mediatescritical interactions between nuclear receptors and theBRG1/SMARCA4 chromatin-remodeling complex for transactivation(PubMed:12917342). {ECO:0000250|UniProtKB:Q61466,ECO:0000269|PubMed:12917342, ECO:0000269|PubMed:14698202,ECO:0000269|PubMed:8804307, ECO:0000303|PubMed:22952240,ECO:0000303|PubMed:26601204}. | This magnesium-dependent enzyme catalyzes the hydrolysisof ATP coupled with the transport of calcium. {ECO:0000250}. |
![]() * 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 SMARCD1_ATP2C2 |
![]() (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 SMARCD1_ATP2C2 |
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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 SMARCD1_ATP2C2 |
![]() (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 SMARCD1_ATP2C2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |