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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:ACTN2-ACTN2 (FusionGDB2 ID:HG88TG88) |
Fusion Gene Summary for ACTN2-ACTN2 |
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Fusion gene information | Fusion gene name: ACTN2-ACTN2 | Fusion gene ID: hg88tg88 | Hgene | Tgene | Gene symbol | ACTN2 | ACTN2 | Gene ID | 88 | 88 |
Gene name | actinin alpha 2 | actinin alpha 2 | |
Synonyms | CMD1AA|CMH23|MPD6|MYOCOZ | CMD1AA|CMH23|MPD6|MYOCOZ | |
Cytomap | ('ACTN2')('ACTN2') 1q43 | 1q43 | |
Type of gene | protein-coding | protein-coding | |
Description | alpha-actinin-2F-actin cross-linking proteinalpha-actinin skeletal muscle | alpha-actinin-2F-actin cross-linking proteinalpha-actinin skeletal muscle | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | P35609 | P35609 | |
Ensembl transtripts involved in fusion gene | ENST00000366578, ENST00000542672, ENST00000546208, ENST00000492634, | ENST00000366578, ENST00000546208, ENST00000492634, ENST00000542672, | |
Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 2 X 2 X 1=4 |
# samples | 6 | 2 | |
** MAII score | log2(6/50*10)=0.263034405833794 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: ACTN2 [Title/Abstract] AND ACTN2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ACTN2(236918382)-ACTN2(236926119), # 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 |
Hgene | ACTN2 | GO:0030035 | microspike assembly | 12356918 |
Hgene | ACTN2 | GO:0043268 | positive regulation of potassium ion transport | 17110593 |
Hgene | ACTN2 | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 17110593 |
Tgene | ACTN2 | GO:0030035 | microspike assembly | 12356918 |
Tgene | ACTN2 | GO:0043268 | positive regulation of potassium ion transport | 17110593 |
Tgene | ACTN2 | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 17110593 |
![]() * 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 ACTN2-ACTN2 |
![]() * 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 ACTN2-ACTN2 |
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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 ACTN2-ACTN2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:236918382/:236926119) - 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 |
ACTN2 | ACTN2 |
FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. | FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. |
![]() * 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 ACTN2-ACTN2 |
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Fusion Gene PPI Analysis for ACTN2-ACTN2 |
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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 ACTN2-ACTN2 |
![]() (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 ACTN2-ACTN2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACTN2 | C2677338 | Cardiomyopathy, Dilated, 1AA | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTN2 | C0340427 | Familial dilated cardiomyopathy | 2 | ORPHANET |
Tgene | C2677338 | Cardiomyopathy, Dilated, 1AA | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0340427 | Familial dilated cardiomyopathy | 2 | ORPHANET |