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Fusion gene ID: 37356 |
FusionGeneSummary for TBC1D1_PGM2 |
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Fusion gene information | Fusion gene name: TBC1D1_PGM2 | Fusion gene ID: 37356 | Hgene | Tgene | Gene symbol | TBC1D1 | PGM2 | Gene ID | 23216 | 55276 |
Gene name | TBC1 domain family member 1 | phosphoglucomutase 2 | |
Synonyms | TBC|TBC1 | MSTP006 | |
Cytomap | 4p14 | 4p14 | |
Type of gene | protein-coding | protein-coding | |
Description | TBC1 domain family member 1TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 | phosphoglucomutase-2PGM 2glucose phosphomutase 2phosphodeoxyribomutase | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q86TI0 | Q96G03 | |
Ensembl transtripts involved in fusion gene | ENST00000508802, ENST00000261439, ENST00000402522, ENST00000407365, | ENST00000381967, ENST00000544359, ENST00000537241, | |
Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 2 X 2 X 2=8 |
# samples | 7 | 2 | |
** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: TBC1D1 [Title/Abstract] AND PGM2 [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 |
TCGA | RV | ESCA | TCGA-R6-A8W5-01B | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
* 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 |
In-frame | ENST00000508802 | ENST00000381967 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
5CDS-5UTR | ENST00000508802 | ENST00000544359 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
5CDS-5UTR | ENST00000508802 | ENST00000537241 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
In-frame | ENST00000261439 | ENST00000381967 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
5CDS-5UTR | ENST00000261439 | ENST00000544359 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
5CDS-5UTR | ENST00000261439 | ENST00000537241 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
In-frame | ENST00000402522 | ENST00000381967 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
5CDS-5UTR | ENST00000402522 | ENST00000544359 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
5CDS-5UTR | ENST00000402522 | ENST00000537241 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
intron-3CDS | ENST00000407365 | ENST00000381967 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
intron-5UTR | ENST00000407365 | ENST00000544359 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
intron-5UTR | ENST00000407365 | ENST00000537241 | TBC1D1 | chr4 | 37904133 | + | PGM2 | chr4 | 37831586 | + |
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FusionProtFeatures for TBC1D1_PGM2 |
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Hgene | Tgene |
TBC1D1 | PGM2 |
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}. | Catalyzes the conversion of the nucleoside breakdownproducts ribose-1-phosphate and deoxyribose-1-phosphate to thecorresponding 5-phosphopentoses. May also catalyze theinterconversion of glucose-1-phosphate and glucose-6-phosphate.Has low glucose 1,6-bisphosphate synthase activity.{ECO:0000269|PubMed:17804405}. |
![]() * 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 |
Tgene | >PGM2 | chr4:37904133 | chr4:37831586 | ENST00000381967 | + | 0 | 14 | 165_166 | 27 | 613 | Region | Substrate binding |
Tgene | >PGM2 | chr4:37904133 | chr4:37831586 | ENST00000381967 | + | 0 | 14 | 326_327 | 27 | 613 | Region | Substrate binding |
Tgene | >PGM2 | chr4:37904133 | chr4:37831586 | ENST00000381967 | + | 0 | 14 | 424_426 | 27 | 613 | Region | Substrate binding |
- 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 |
Hgene | >TBC1D1 | chr4:37904133 | chr4:37831586 | ENST00000261439 | + | 2 | 20 | 246_404 | 139 | 1169 | Domain | PID |
Hgene | >TBC1D1 | chr4:37904133 | chr4:37831586 | ENST00000261439 | + | 2 | 20 | 800_994 | 139 | 1169 | Domain | Rab-GAP TBC |
Hgene | >TBC1D1 | chr4:37904133 | chr4:37831586 | ENST00000508802 | + | 2 | 21 | 246_404 | 139 | 1160 | Domain | PID |
Hgene | >TBC1D1 | chr4:37904133 | chr4:37831586 | ENST00000508802 | + | 2 | 21 | 800_994 | 139 | 1160 | Domain | Rab-GAP TBC |
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FusionGeneSequence for TBC1D1_PGM2 |
![]() (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 TBC1D1_PGM2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TBC1D1 | YWHAG, MAP1LC3A, GABARAPL1, BARD1, ROR1, YWHAE, SMAD2, YWHAB, HSPB1, ZFC3H1, KCTD3, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, CBY1 | PGM2 | TERF1, TINF2, ACD, POT1, PGM1, BAG3, HSPB1, C11orf54, ABAT, ALDH4A1, MDH1, TKT, TPI1, NTRK1 |
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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 TBC1D1_PGM2 |
![]() (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 TBC1D1_PGM2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TBC1D1 | C0028754 | Obesity | 3 | CTD_human |