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Fusion gene ID: 39713 |
FusionGeneSummary for TSC22D1_BOLA2 |
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Fusion gene information | Fusion gene name: TSC22D1_BOLA2 | Fusion gene ID: 39713 | Hgene | Tgene | Gene symbol | TSC22D1 | BOLA2 | Gene ID | 8848 | 654483 |
Gene name | TSC22 domain family member 1 | bolA family member 2B | |
Synonyms | Ptg-2|TGFB1I4|TSC22 | BOLA2 | |
Cytomap | 13q14.11 | 16p11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | TSC22 domain family protein 1TGFB-stimulated clone 22 homologTGFbeta-stimulated clone 22cerebral protein 2regulatory protein TSC-22transcriptional regulator TSC-22transforming growth factor beta-1-induced transcript 4 proteintransforming growth fac | bolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q15714 | Q9H3K6 | |
Ensembl transtripts involved in fusion gene | ENST00000458659, ENST00000501704, ENST00000261489, ENST00000460842, | ENST00000330978, | |
Fusion gene scores | * DoF score | 13 X 12 X 7=1092 | 19 X 26 X 1=494 |
# samples | 16 | 28 | |
** MAII score | log2(16/1092*10)=-2.77082904603249 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(28/494*10)=-0.819084214639711 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TSC22D1 [Title/Abstract] AND BOLA2 [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 |
Tgene | BOLA2 | GO:0044571 | [2Fe-2S] cluster assembly | 27519415 |
Tgene | 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 | BI046797 | TSC22D1 | chr13 | 45008318 | + | BOLA2 | chr16 | 30080184 | - |
* 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 | ENST00000458659 | ENST00000330978 | TSC22D1 | chr13 | 45008318 | + | BOLA2 | chr16 | 30080184 | - |
intron-intron | ENST00000501704 | ENST00000330978 | TSC22D1 | chr13 | 45008318 | + | BOLA2 | chr16 | 30080184 | - |
intron-intron | ENST00000261489 | ENST00000330978 | TSC22D1 | chr13 | 45008318 | + | BOLA2 | chr16 | 30080184 | - |
intron-intron | ENST00000460842 | ENST00000330978 | TSC22D1 | chr13 | 45008318 | + | BOLA2 | chr16 | 30080184 | - |
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FusionProtFeatures for TSC22D1_BOLA2 |
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Hgene | Tgene |
TSC22D1 | BOLA2 |
Transcriptional repressor. Acts on the C-typenatriuretic peptide (CNP) promoter. | 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}. |
![]() * 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 TSC22D1_BOLA2 |
![]() (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 TSC22D1_BOLA2 |
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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 TSC22D1_BOLA2 |
![]() (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 TSC22D1_BOLA2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TSC22D1 | C0023904 | Liver Neoplasms, Experimental | 2 | CTD_human |
Hgene | TSC22D1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | TSC22D1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | TSC22D1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | TSC22D1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |