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Fusion gene ID: 540 |
FusionGeneSummary for ACTC1_SLC25A40 |
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Fusion gene information | Fusion gene name: ACTC1_SLC25A40 | Fusion gene ID: 540 | Hgene | Tgene | Gene symbol | ACTC1 | SLC25A40 | Gene ID | 70 | 55972 |
Gene name | actin, alpha, cardiac muscle 1 | solute carrier family 25 member 40 | |
Synonyms | ACTC|ASD5|CMD1R|CMH11|LVNC4 | MCFP | |
Cytomap | 15q14 | 7q21.12 | |
Type of gene | protein-coding | protein-coding | |
Description | actin, alpha cardiac muscle 1 | solute carrier family 25 member 40mitochondrial carrier family protein | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | P68032 | Q8TBP6 | |
Ensembl transtripts involved in fusion gene | ENST00000290378, ENST00000557860, | ENST00000341119, | |
Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 1 X 1 X 1=1 |
# samples | 3 | 1 | |
** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: ACTC1 [Title/Abstract] AND SLC25A40 [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 | ACTC1 | GO:0030048 | actin filament-based movement | 16611632 |
![]() (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 | N86827 | ACTC1 | chr15 | 35083565 | - | SLC25A40 | chr7 | 87470461 | - |
* 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 |
intron-intron | ENST00000290378 | ENST00000341119 | ACTC1 | chr15 | 35083565 | - | SLC25A40 | chr7 | 87470461 | - |
intron-intron | ENST00000557860 | ENST00000341119 | ACTC1 | chr15 | 35083565 | - | SLC25A40 | chr7 | 87470461 | - |
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FusionProtFeatures for ACTC1_SLC25A40 |
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Hgene | Tgene |
ACTC1 | SLC25A40 |
Actins are highly conserved proteins that are involvedin various types of cell motility and are ubiquitously expressedin all eukaryotic cells. |
![]() * 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 ACTC1_SLC25A40 |
![]() (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 ACTC1_SLC25A40 |
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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 ACTC1_SLC25A40 |
![]() (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 ACTC1_SLC25A40 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACTC1 | C2677506 | Cardiomyopathy, Familial Hypertrophic, 11 | 4 | CTD_human;UNIPROT |
Hgene | ACTC1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Hgene | ACTC1 | C0034951 | Refractive Errors | 1 | CTD_human |
Hgene | ACTC1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | ACTC1 | C2748552 | Atrial Septal Defect 5 | 1 | CTD_human;UNIPROT |
Hgene | ACTC1 | C3150681 | CARDIOMYOPATHY, DILATED, 1R | 1 | UNIPROT |