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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:ASPSCR1-PKN2 (FusionGDB2 ID:HG79058TG5586) |
Fusion Gene Summary for ASPSCR1-PKN2 |
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Fusion gene information | Fusion gene name: ASPSCR1-PKN2 | Fusion gene ID: hg79058tg5586 | Hgene | Tgene | Gene symbol | ASPSCR1 | PKN2 | Gene ID | 79058 | 5586 |
Gene name | ASPSCR1 tether for SLC2A4, UBX domain containing | protein kinase N2 | |
Synonyms | ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9 | PAK2|PRK2|PRKCL2|PRO2042|Pak-2|STK7 | |
Cytomap | ('ASPSCR1')('PKN2') 17q25.3 | 1p22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | tether containing UBX domain for GLUT4ASPSCR1, UBX domain containing tether for SLC2A4UBX domain protein 9UBX domain-containing protein 9alveolar soft part sarcoma chromosomal region candidate gene 1 proteinalveolar soft part sarcoma chromosome regio | serine/threonine-protein kinase N2PKN gammacardiolipin-activated protein kinase Pak2protein kinase C-like 2protein-kinase C-related kinase 2 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q9BZE9 | . | |
Ensembl transtripts involved in fusion gene | ENST00000306729, ENST00000306739, ENST00000580534, ENST00000582404, ENST00000581647, | ||
Fusion gene scores | * DoF score | 9 X 6 X 8=432 | 5 X 3 X 3=45 |
# samples | 12 | 4 | |
** MAII score | log2(12/432*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/45*10)=-0.169925001442312 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ASPSCR1 [Title/Abstract] AND PKN2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ASPSCR1(79975282)-PKN2(89245625), # samples:2 | ||
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 | PKN2 | GO:0006468 | protein phosphorylation | 17332740 |
Tgene | PKN2 | GO:0010631 | epithelial cell migration | 21754995 |
![]() * 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 |
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Fusion Gene ORF analysis for ASPSCR1-PKN2 |
![]() * 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 |
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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 ASPSCR1-PKN2 |
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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 ASPSCR1-PKN2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:79975282/:89245625) - 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 |
ASPSCR1 | . |
FUNCTION: Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT. {ECO:0000250, ECO:0000269|PubMed:23349634}. | 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 ASPSCR1-PKN2 |
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Fusion Gene PPI Analysis for ASPSCR1-PKN2 |
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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 ASPSCR1-PKN2 |
![]() (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 ASPSCR1-PKN2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ASPSCR1 | C4518356 | MiT family translocation renal cell carcinoma | 3 | ORPHANET |
Hgene | ASPSCR1 | C0206657 | Alveolar Soft Part Sarcoma | 1 | CTD_human;ORPHANET |