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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:AVIL-TSFM (FusionGDB2 ID:HG10677TG10102) |
Fusion Gene Summary for AVIL-TSFM |
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Fusion gene information | Fusion gene name: AVIL-TSFM | Fusion gene ID: hg10677tg10102 | Hgene | Tgene | Gene symbol | AVIL | TSFM | Gene ID | 10677 | 10102 |
Gene name | advillin | Ts translation elongation factor, mitochondrial | |
Synonyms | ADVIL|DOC6|NPHS21|p92 | EFTS|EFTSMT | |
Cytomap | ('AVIL')('TSFM') 12q14.1 | 12q14.1 | |
Type of gene | protein-coding | protein-coding | |
Description | advillin | elongation factor Ts, mitochondrialEF-TsEF-TsMtmitochondrial elongation factor Ts | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | O75366 | . | |
Ensembl transtripts involved in fusion gene | ENST00000257861, ENST00000537081, ENST00000550083, | ENST00000257861, ENST00000537081, ENST00000550083, | |
Fusion gene scores | * DoF score | 4 X 5 X 4=80 | 6 X 5 X 4=120 |
# samples | 5 | 9 | |
** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/120*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AVIL [Title/Abstract] AND TSFM [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | AVIL(58197029)-TSFM(58186768), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | AVIL-TSFM seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. AVIL-TSFM seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. AVIL-TSFM seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. AVIL-TSFM seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. TSFM-AVIL seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. TSFM-AVIL seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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 |
Tgene | TSFM | GO:0070129 | regulation of mitochondrial translation | 27677415 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 | LUSC | TCGA-43-2581 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
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Fusion Gene ORF analysis for AVIL-TSFM |
![]() * 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-3UTR | ENST00000257861 | ENST00000497617 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
5CDS-3UTR | ENST00000537081 | ENST00000497617 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
5CDS-intron | ENST00000257861 | ENST00000323833 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
5CDS-intron | ENST00000257861 | ENST00000350762 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
5CDS-intron | ENST00000257861 | ENST00000540550 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
5CDS-intron | ENST00000537081 | ENST00000323833 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
5CDS-intron | ENST00000537081 | ENST00000350762 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
5CDS-intron | ENST00000537081 | ENST00000540550 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
In-frame | ENST00000257861 | ENST00000454289 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
In-frame | ENST00000257861 | ENST00000543727 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
In-frame | ENST00000257861 | ENST00000548851 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
In-frame | ENST00000257861 | ENST00000550559 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
In-frame | ENST00000537081 | ENST00000454289 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
In-frame | ENST00000537081 | ENST00000543727 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
In-frame | ENST00000537081 | ENST00000548851 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
In-frame | ENST00000537081 | ENST00000550559 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
intron-3CDS | ENST00000550083 | ENST00000454289 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
intron-3CDS | ENST00000550083 | ENST00000543727 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
intron-3CDS | ENST00000550083 | ENST00000548851 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
intron-3CDS | ENST00000550083 | ENST00000550559 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
intron-3UTR | ENST00000550083 | ENST00000497617 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
intron-intron | ENST00000550083 | ENST00000323833 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
intron-intron | ENST00000550083 | ENST00000350762 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
intron-intron | ENST00000550083 | ENST00000540550 | AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + |
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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 AVIL-TSFM |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + | 2.35E-06 | 0.9999976 |
AVIL | chr12 | 58197029 | - | TSFM | chr12 | 58186768 | + | 2.35E-06 | 0.9999976 |
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Fusion Protein Features for AVIL-TSFM |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:58197029/chr12:58186768) - 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 |
AVIL | . |
FUNCTION: Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling (PubMed:29058690). May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis. In podocytes, controls lamellipodia formation through the regulation of EGF-induced diacylglycerol generation by PLCE1 and ARP2/3 complex assembly (PubMed:29058690). {ECO:0000269|PubMed:20393563, ECO:0000269|PubMed:29058690}. | 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 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 109_116 | 654 | 820.0 | Region | Polyphosphoinositide binding |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 135_143 | 654 | 820.0 | Region | Polyphosphoinositide binding |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 109_116 | 647 | 813.0 | Region | Polyphosphoinositide binding |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 135_143 | 647 | 813.0 | Region | Polyphosphoinositide binding |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 145_185 | 654 | 820.0 | Repeat | Note=Gelsolin-like 2 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 24_73 | 654 | 820.0 | Repeat | Note=Gelsolin-like 1 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 262_306 | 654 | 820.0 | Repeat | Note=Gelsolin-like 3 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 403_454 | 654 | 820.0 | Repeat | Note=Gelsolin-like 4 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 525_565 | 654 | 820.0 | Repeat | Note=Gelsolin-like 5 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 145_185 | 647 | 813.0 | Repeat | Note=Gelsolin-like 2 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 24_73 | 647 | 813.0 | Repeat | Note=Gelsolin-like 1 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 262_306 | 647 | 813.0 | Repeat | Note=Gelsolin-like 3 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 403_454 | 647 | 813.0 | Repeat | Note=Gelsolin-like 4 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 525_565 | 647 | 813.0 | Repeat | Note=Gelsolin-like 5 |
- 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 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 753_819 | 654 | 820.0 | Domain | HP |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 753_819 | 647 | 813.0 | Domain | HP |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 1_731 | 654 | 820.0 | Region | Core |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 731_819 | 654 | 820.0 | Region | Headpiece |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 1_731 | 647 | 813.0 | Region | Core |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 731_819 | 647 | 813.0 | Region | Headpiece |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000257861 | - | 15 | 19 | 628_669 | 654 | 820.0 | Repeat | Note=Gelsolin-like 6 |
Hgene | AVIL | chr12:58197029 | chr12:58186768 | ENST00000537081 | - | 15 | 19 | 628_669 | 647 | 813.0 | Repeat | Note=Gelsolin-like 6 |
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Fusion Gene Sequence for AVIL-TSFM |
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Fusion Gene PPI Analysis for AVIL-TSFM |
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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 AVIL-TSFM |
![]() (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 AVIL-TSFM |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C1864840 | Combined Oxidative Phosphorylation Deficiency 3 | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0036572 | Seizures | 1 | GENOMICS_ENGLAND |