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Fusion gene ID: 580 |
FusionGeneSummary for ACTN2_ACTN2 |
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Fusion gene information | Fusion gene name: ACTN2_ACTN2 | Fusion gene ID: 580 | Hgene | Tgene | Gene symbol | ACTN2 | ACTN2 | Gene ID | 88 | 88 |
Gene name | actinin alpha 2 | actinin alpha 2 | |
Synonyms | CMD1AA|CMH23 | CMD1AA|CMH23 | |
Cytomap | 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 | 20180522 | 20180522 | |
UniProtAcc | P35609 | P35609 | |
Ensembl transtripts involved in fusion gene | ENST00000542672, ENST00000366578, ENST00000492634, ENST00000546208, | ENST00000542672, ENST00000366578, ENST00000492634, ENST00000546208, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 1=4 |
# samples | 2 | 2 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: ACTN2 [Title/Abstract] AND ACTN2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* 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:0051289 | protein homotetramerization | 9501083 |
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:0051289 | protein homotetramerization | 9501083 |
Tgene | ACTN2 | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 17110593 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | T12517 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000542672 | ENST00000542672 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-3UTR | ENST00000542672 | ENST00000366578 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-intron | ENST00000542672 | ENST00000492634 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-3UTR | ENST00000542672 | ENST00000546208 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-intron | ENST00000366578 | ENST00000542672 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-3UTR | ENST00000366578 | ENST00000366578 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-intron | ENST00000366578 | ENST00000492634 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-3UTR | ENST00000366578 | ENST00000546208 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
intron-intron | ENST00000492634 | ENST00000542672 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
intron-3UTR | ENST00000492634 | ENST00000366578 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
intron-intron | ENST00000492634 | ENST00000492634 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
intron-3UTR | ENST00000492634 | ENST00000546208 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-intron | ENST00000546208 | ENST00000542672 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-3UTR | ENST00000546208 | ENST00000366578 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-intron | ENST00000546208 | ENST00000492634 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
5CDS-3UTR | ENST00000546208 | ENST00000546208 | ACTN2 | chr1 | 236918382 | + | ACTN2 | chr1 | 236926119 | - |
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FusionProtFeatures for ACTN2_ACTN2 |
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Hgene | Tgene |
ACTN2 | ACTN2 |
F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein. | F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein. |
![]() * 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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FusionGeneSequence for ACTN2_ACTN2 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI 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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RelatedDrugs for ACTN2_ACTN2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ACTN2_ACTN2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACTN2 | C2677338 | Cardiomyopathy, Dilated, 1AA | 4 | CTD_human;UNIPROT |
Tgene | ACTN2 | C2677338 | Cardiomyopathy, Dilated, 1AA | 4 | CTD_human;UNIPROT |