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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:ELOVL2-SMOC2 (FusionGDB2 ID:HG54898TG64094) |
Fusion Gene Summary for ELOVL2-SMOC2 |
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Fusion gene information | Fusion gene name: ELOVL2-SMOC2 | Fusion gene ID: hg54898tg64094 | Hgene | Tgene | Gene symbol | ELOVL2 | SMOC2 | Gene ID | 54898 | 64094 |
Gene name | ELOVL fatty acid elongase 2 | SPARC related modular calcium binding 2 | |
Synonyms | SSC2 | DTDP1|MST117|MSTP117|MSTP140|SMAP2|bA270C4A.1|bA37D8.1|dJ421D16.1 | |
Cytomap | ('ELOVL2')('SMOC2') 6p24.2 | 6q27 | |
Type of gene | protein-coding | protein-coding | |
Description | elongation of very long chain fatty acids protein 23-keto acyl-CoA synthase ELOVL2ELOVL FA elongase 2elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2very long chain 3-ketoacyl-CoA synthase 2very long chain 3-oxoacyl-CoA | SPARC-related modular calcium-binding protein 2SMAP-2SMOC-2secreted modular calcium-binding protein 2smooth muscle associated protein 2thyroglobulin type-1 repeat containing protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000354666, | ||
Fusion gene scores | * DoF score | 3 X 2 X 2=12 | 10 X 8 X 7=560 |
# samples | 3 | 10 | |
** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/560*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ELOVL2 [Title/Abstract] AND SMOC2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ELOVL2(11044461)-SMOC2(169051361), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | ELOVL2-SMOC2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ELOVL2-SMOC2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. |
* 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 | ELOVL2 | GO:0034626 | fatty acid elongation, polyunsaturated fatty acid | 12371743|20937905 |
Hgene | ELOVL2 | GO:0042761 | very long-chain fatty acid biosynthetic process | 12371743|20937905 |
Tgene | SMOC2 | GO:0010595 | positive regulation of endothelial cell migration | 16774925 |
Tgene | SMOC2 | GO:0035470 | positive regulation of vascular wound healing | 16774925 |
Tgene | SMOC2 | GO:0045743 | positive regulation of fibroblast growth factor receptor signaling pathway | 16774925 |
Tgene | SMOC2 | GO:0045766 | positive regulation of angiogenesis | 16774925 |
Tgene | SMOC2 | GO:0045931 | positive regulation of mitotic cell cycle | 16774925 |
Tgene | SMOC2 | GO:1900748 | positive regulation of vascular endothelial growth factor signaling pathway | 16774925 |
Tgene | SMOC2 | GO:2000573 | positive regulation of DNA biosynthetic process | 16774925 |
![]() * 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 | UCEC | TCGA-AJ-A3IA-01A | ELOVL2 | chr6 | 11044461 | - | SMOC2 | chr6 | 169051361 | + |
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Fusion Gene ORF analysis for ELOVL2-SMOC2 |
![]() * 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-intron | ENST00000354666 | ENST00000477998 | ELOVL2 | chr6 | 11044461 | - | SMOC2 | chr6 | 169051361 | + |
Frame-shift | ENST00000354666 | ENST00000354536 | ELOVL2 | chr6 | 11044461 | - | SMOC2 | chr6 | 169051361 | + |
Frame-shift | ENST00000354666 | ENST00000356284 | ELOVL2 | chr6 | 11044461 | - | SMOC2 | chr6 | 169051361 | + |
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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 ELOVL2-SMOC2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ELOVL2 | chr6 | 11044460 | - | SMOC2 | chr6 | 169051360 | + | 8.23E-07 | 0.99999917 |
ELOVL2 | chr6 | 11044460 | - | SMOC2 | chr6 | 169051360 | + | 8.23E-07 | 0.99999917 |
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Fusion Protein Features for ELOVL2-SMOC2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:11044461/:169051361) - 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 ELOVL2-SMOC2 |
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Fusion Gene PPI Analysis for ELOVL2-SMOC2 |
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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 ELOVL2-SMOC2 |
![]() (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 ELOVL2-SMOC2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ELOVL2 | C0021364 | Male infertility | 1 | CTD_human |
Hgene | ELOVL2 | C0848676 | Subfertility, Male | 1 | CTD_human |
Hgene | ELOVL2 | C0917731 | Male sterility | 1 | CTD_human |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C0399379 | Dentin dysplasia, type 1 | 1 | CTD_human;GENOMICS_ENGLAND |