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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:PIEZO1-CBFA2T3 (FusionGDB2 ID:HG9780TG863) |
Fusion Gene Summary for PIEZO1-CBFA2T3 |
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Fusion gene information | Fusion gene name: PIEZO1-CBFA2T3 | Fusion gene ID: hg9780tg863 | Hgene | Tgene | Gene symbol | PIEZO1 | CBFA2T3 | Gene ID | 9780 | 863 |
Gene name | piezo type mechanosensitive ion channel component 1 | CBFA2/RUNX1 partner transcriptional co-repressor 3 | |
Synonyms | DHS|FAM38A|LMPH3|LMPHM6|Mib | ETO2|MTG16|MTGR2|RUNX1T3|ZMYND4 | |
Cytomap | ('FAM38A','PIEZO1')('CBFA2T3','CBFA2T3') 16q24.3 | 16q24.3 | |
Type of gene | protein-coding | protein-coding | |
Description | piezo-type mechanosensitive ion channel component 1family with sequence similarity 38, member Amembrane protein induced by beta-amyloid treatment | protein CBFA2T3CBFA2/RUNX1 translocation partner 3MTG8-related gene 2MTG8-related protein 2core-binding factor, runt domain, alpha subunit 2; translocated to, 3myeloid translocation gene 8 and 16bmyeloid translocation gene on chromosome 16 proteinz | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000301015, ENST00000327397, | ||
Fusion gene scores | * DoF score | 15 X 14 X 10=2100 | 6 X 6 X 4=144 |
# samples | 21 | 6 | |
** MAII score | log2(21/2100*10)=-3.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: PIEZO1 [Title/Abstract] AND CBFA2T3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | PIEZO1(88815791)-CBFA2T3(88968064), # samples:3 FAM38A(88798114)-CBFA2T3(88968064), # samples:1 FAM38A(88815792)-CBFA2T3(88949169), # samples:1 FAM38A(88815792)-CBFA2T3(88968064), # samples:1 FAM38A(88851309)-CBFA2T3(88958893), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
Tgene | CBFA2T3 | GO:0001666 | response to hypoxia | 23840896 |
Tgene | CBFA2T3 | GO:0008285 | negative regulation of cell proliferation | 23840896 |
Tgene | CBFA2T3 | GO:0030851 | granulocyte differentiation | 15231665 |
Tgene | CBFA2T3 | GO:0045820 | negative regulation of glycolytic process | 23840896 |
Tgene | CBFA2T3 | GO:0045892 | negative regulation of transcription, DNA-templated | 23840896|25974097 |
Tgene | CBFA2T3 | GO:1903715 | regulation of aerobic respiration | 23840896 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | CESC | TCGA-DS-A1O9-01A | FAM38A | chr16 | 88815792 | - | CBFA2T3 | chr16 | 88949169 | - |
ChimerDB4 | ESCA | TCGA-2H-A9GG | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
ChimerDB4 | ESCA | TCGA-L5-A4OQ-01A | FAM38A | chr16 | 88815792 | - | CBFA2T3 | chr16 | 88968064 | - |
ChimerDB4 | ESCA | TCGA-L5-A4OQ | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
ChimerDB4 | OV | TCGA-57-1586-01A | FAM38A | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
ChimerDB4 | OV | TCGA-57-1586-01A | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
ChimerDB4 | SKCM | TCGA-Z2-AA3V-06A | FAM38A | chr16 | 88851309 | - | CBFA2T3 | chr16 | 88958893 | - |
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Fusion Gene ORF analysis for PIEZO1-CBFA2T3 |
![]() * 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 |
5CDS-5UTR | ENST00000301015 | ENST00000268679 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
5CDS-5UTR | ENST00000301015 | ENST00000268679 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
5CDS-5UTR | ENST00000301015 | ENST00000327483 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
5CDS-5UTR | ENST00000301015 | ENST00000327483 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
5CDS-5UTR | ENST00000301015 | ENST00000360302 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
5CDS-5UTR | ENST00000301015 | ENST00000360302 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
5CDS-5UTR | ENST00000301015 | ENST00000436887 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
5CDS-5UTR | ENST00000301015 | ENST00000436887 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
5CDS-intron | ENST00000301015 | ENST00000448839 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
5CDS-intron | ENST00000301015 | ENST00000448839 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-5UTR | ENST00000327397 | ENST00000268679 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-5UTR | ENST00000327397 | ENST00000268679 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-5UTR | ENST00000327397 | ENST00000327483 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-5UTR | ENST00000327397 | ENST00000327483 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-5UTR | ENST00000327397 | ENST00000360302 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-5UTR | ENST00000327397 | ENST00000360302 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-5UTR | ENST00000327397 | ENST00000436887 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-5UTR | ENST00000327397 | ENST00000436887 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-intron | ENST00000327397 | ENST00000448839 | PIEZO1 | chr16 | 88815791 | - | CBFA2T3 | chr16 | 88968064 | - |
intron-intron | ENST00000327397 | ENST00000448839 | PIEZO1 | chr16 | 88798114 | - | CBFA2T3 | chr16 | 88968064 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for PIEZO1-CBFA2T3 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for PIEZO1-CBFA2T3 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:88815791/:88968064) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is 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, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is 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, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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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Fusion Gene Sequence for PIEZO1-CBFA2T3 |
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Fusion Gene PPI Analysis for PIEZO1-CBFA2T3 |
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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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Related Drugs for PIEZO1-CBFA2T3 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for PIEZO1-CBFA2T3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PIEZO1 | C4551512 | DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA | 7 | GENOMICS_ENGLAND;UNIPROT |
Hgene | PIEZO1 | C4225184 | LYMPHATIC MALFORMATION 6 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | PIEZO1 | C0272051 | Xerocytosis | 3 | GENOMICS_ENGLAND;ORPHANET |
Hgene | PIEZO1 | C0272048 | stomatocytic anemia | 2 | GENOMICS_ENGLAND |
Hgene | PIEZO1 | C0677598 | Stomatocytosis Result | 2 | GENOMICS_ENGLAND |