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Fusion gene ID: 9783 |
FusionGeneSummary for DESI2_TBC1D1 |
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Fusion gene information | Fusion gene name: DESI2_TBC1D1 | Fusion gene ID: 9783 | Hgene | Tgene | Gene symbol | DESI2 | TBC1D1 | Gene ID | 51029 | 23216 |
Gene name | desumoylating isopeptidase 2 | TBC1 domain family member 1 | |
Synonyms | C1orf121|CGI-146|DESI|DESI1|DeSI-2|FAM152A|PNAS-4|PPPDE1 | TBC|TBC1 | |
Cytomap | 1q44 | 4p14 | |
Type of gene | protein-coding | protein-coding | |
Description | deubiquitinase DESI2desumoylating isopeptidase 2PPPDE peptidase domain-containing protein 1desumoylating isopeptidase 1family with sequence similarity 152, member A | TBC1 domain family member 1TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9BSY9 | Q86TI0 | |
Ensembl transtripts involved in fusion gene | ENST00000302550, ENST00000263831, ENST00000484738, | ENST00000508802, ENST00000261439, ENST00000402522, ENST00000407365, | |
Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 8 X 7 X 4=224 |
# samples | 5 | 9 | |
** MAII score | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/224*10)=-1.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: DESI2 [Title/Abstract] AND TBC1D1 [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 |
![]() (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 | DA672747 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
* 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 |
Frame-shift | ENST00000302550 | ENST00000508802 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
Frame-shift | ENST00000302550 | ENST00000261439 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
5CDS-intron | ENST00000302550 | ENST00000402522 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
5CDS-intron | ENST00000302550 | ENST00000407365 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
Frame-shift | ENST00000263831 | ENST00000508802 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
Frame-shift | ENST00000263831 | ENST00000261439 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
5CDS-intron | ENST00000263831 | ENST00000402522 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
5CDS-intron | ENST00000263831 | ENST00000407365 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
3UTR-3CDS | ENST00000484738 | ENST00000508802 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
3UTR-3CDS | ENST00000484738 | ENST00000261439 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
3UTR-intron | ENST00000484738 | ENST00000402522 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
3UTR-intron | ENST00000484738 | ENST00000407365 | DESI2 | chr1 | 244816657 | + | TBC1D1 | chr4 | 38091552 | + |
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FusionProtFeatures for DESI2_TBC1D1 |
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Hgene | Tgene |
DESI2 | TBC1D1 |
Has deubiquitinating activity towards 'Lys-48'- and'Lys-63'-linked polyubiquitin chains. Deubiquitinates 'Lys-48'-linked polyubiquitination of RPS7 leading to its stabilization(PubMed:28483520). {ECO:0000269|PubMed:28483520}. | May act as a GTPase-activating protein for Rab familyprotein(s). May play a role in the cell cycle and differentiationof various tissues. Involved in the trafficking and translocationof GLUT4-containing vesicles and insulin-stimulated glucose uptakeinto cells (By similarity). {ECO:0000250}. |
![]() * 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 DESI2_TBC1D1 |
![]() (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 DESI2_TBC1D1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
DESI2 | ELAVL1 | TBC1D1 | YWHAG, MAP1LC3A, GABARAPL1, BARD1, ROR1, YWHAE, SMAD2, YWHAB, HSPB1, ZFC3H1, KCTD3, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, CBY1 |
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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 DESI2_TBC1D1 |
![]() (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 DESI2_TBC1D1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DESI2 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Tgene | TBC1D1 | C0028754 | Obesity | 3 | CTD_human |