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Fusion gene ID: 4289 |
FusionGeneSummary for BOLA2_ACTA1 |
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Fusion gene information | Fusion gene name: BOLA2_ACTA1 | Fusion gene ID: 4289 | Hgene | Tgene | Gene symbol | BOLA2 | ACTA1 | Gene ID | 654483 | 58 |
Gene name | bolA family member 2B | actin, alpha 1, skeletal muscle | |
Synonyms | BOLA2 | ACTA|ASMA|CFTD|CFTD1|CFTDM|MPFD|NEM1|NEM2|NEM3|SHPM | |
Cytomap | 16p11.2 | 1q42.13 | |
Type of gene | protein-coding | protein-coding | |
Description | bolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B | actin, alpha skeletal musclenemaline myopathy type 3 | |
Modification date | 20180519 | 20180520 | |
UniProtAcc | Q9H3K6 | P68133 | |
Ensembl transtripts involved in fusion gene | ENST00000330978, | ENST00000366684, ENST00000366683, | |
Fusion gene scores | * DoF score | 24 X 31 X 3=2232 | 2 X 2 X 1=4 |
# samples | 31 | 2 | |
** MAII score | log2(31/2232*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: BOLA2 [Title/Abstract] AND ACTA1 [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 | BOLA2 | GO:0044571 | [2Fe-2S] cluster assembly | 27519415 |
Hgene | BOLA2 | GO:0097428 | protein maturation by iron-sulfur cluster transfer | 27519415 |
![]() (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 | CF552597 | BOLA2 | chr16 | 30080868 | + | ACTA1 | chr1 | 229567339 | - |
* 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-3CDS | ENST00000330978 | ENST00000366684 | BOLA2 | chr16 | 30080868 | + | ACTA1 | chr1 | 229567339 | - |
intron-3CDS | ENST00000330978 | ENST00000366683 | BOLA2 | chr16 | 30080868 | + | ACTA1 | chr1 | 229567339 | - |
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FusionProtFeatures for BOLA2_ACTA1 |
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Hgene | Tgene |
BOLA2 | ACTA1 |
Acts as a cytosolic iron-sulfur (Fe-S) cluster assemblyfactor that facilitates [2Fe-2S] cluster insertion into a subsetof cytosolic proteins (PubMed:26613676, PubMed:27519415). Actstogether with the monothiol glutaredoxin GLRX3 (PubMed:26613676,PubMed:27519415). {ECO:0000269|PubMed:26613676,ECO:0000269|PubMed:27519415}. | 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 BOLA2_ACTA1 |
![]() (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 BOLA2_ACTA1 |
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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 BOLA2_ACTA1 |
![]() (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 BOLA2_ACTA1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | ACTA1 | C1834336 | Nemaline myopathy 3 | 13 | CTD_human;ORPHANET;UNIPROT |
Tgene | ACTA1 | C0546264 | Congenital Fiber Type Disproportion | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | ACTA1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Tgene | ACTA1 | C4225181 | MYOPATHY, SCAPULOHUMEROPERONEAL | 1 | ORPHANET;UNIPROT |