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Fusion gene ID: 4303 |
FusionGeneSummary for BOLA2_MTDH |
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Fusion gene information | Fusion gene name: BOLA2_MTDH | Fusion gene ID: 4303 | Hgene | Tgene | Gene symbol | BOLA2 | MTDH | Gene ID | 654483 | 92140 |
Gene name | bolA family member 2B | metadherin | |
Synonyms | BOLA2 | 3D3|AEG-1|AEG1|LYRIC|LYRIC/3D3 | |
Cytomap | 16p11.2 | 8q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | bolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B | protein LYRIC3D3/LYRICastrocyte elevated gene 1astrocyte elevated gene-1 proteinlysine-rich CEACAM1 co-isolated proteinmetastasis adhesion protein | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9H3K6 | Q86UE4 | |
Ensembl transtripts involved in fusion gene | ENST00000330978, | ENST00000336273, ENST00000519934, | |
Fusion gene scores | * DoF score | 24 X 31 X 3=2232 | 3 X 4 X 1=12 |
# samples | 31 | 5 | |
** MAII score | log2(31/2232*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/12*10)=2.05889368905357 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: BOLA2 [Title/Abstract] AND MTDH [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 |
Tgene | MTDH | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15927426 |
Tgene | MTDH | GO:0010508 | positive regulation of autophagy | 21127263 |
Tgene | MTDH | GO:0043066 | negative regulation of apoptotic process | 17704808 |
Tgene | MTDH | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 16452207|18316612 |
Tgene | MTDH | GO:0045766 | positive regulation of angiogenesis | 19940250 |
Tgene | MTDH | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 16452207|18316612 |
Tgene | MTDH | GO:0051897 | positive regulation of protein kinase B signaling | 17704808 |
![]() (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 | AI380636 | BOLA2 | chr16 | 29460998 | - | MTDH | chr8 | 98718877 | - |
* 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 | ENST00000336273 | BOLA2 | chr16 | 29460998 | - | MTDH | chr8 | 98718877 | - |
intron-3CDS | ENST00000330978 | ENST00000519934 | BOLA2 | chr16 | 29460998 | - | MTDH | chr8 | 98718877 | - |
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FusionProtFeatures for BOLA2_MTDH |
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Hgene | Tgene |
BOLA2 | MTDH |
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}. | Downregulates SLC1A2/EAAT2 promoter activity whenexpressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independentgrowth of immortalized melanocytes and astrocytes which is a keycomponent in tumor cell expansion. Promotes lung metastasis andalso has an effect on bone and brain metastasis, possibly byenhancing the seeding of tumor cells to the target organendothelium. Induces chemoresistance.{ECO:0000269|PubMed:15927426, ECO:0000269|PubMed:16452207,ECO:0000269|PubMed:18316612, ECO:0000269|PubMed:19111877}. |
![]() * 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_MTDH |
![]() (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_MTDH |
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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_MTDH |
![]() (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_MTDH |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | MTDH | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | MTDH | C1458155 | Mammary Neoplasms | 1 | CTD_human |