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Fusion gene ID: 39211 |
FusionGeneSummary for TPI1_PFKL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TPI1_PFKL | Fusion gene ID: 39211 | Hgene | Tgene | Gene symbol | TPI1 | PFKL | Gene ID | 7167 | 5211 |
| Gene name | triosephosphate isomerase 1 | phosphofructokinase, liver type | |
| Synonyms | HEL-S-49|TIM|TPI|TPID | ATP-PFK|PFK-B|PFK-L | |
| Cytomap | 12p13.31 | 21q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | triosephosphate isomeraseepididymis secretory protein Li 49triose-phosphate isomerase | ATP-dependent 6-phosphofructokinase, liver type6-phosphofructokinase type B6-phosphofructokinase, liver typeliver-type 1-phosphofructokinasephosphofructo-1-kinase isozyme Bphosphohexokinase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P60174 | P17858 | |
| Ensembl transtripts involved in fusion gene | ENST00000229270, ENST00000396705, ENST00000488464, ENST00000535434, | ENST00000349048, ENST00000403390, ENST00000496824, | |
| Fusion gene scores | * DoF score | 5 X 5 X 1=25 | 6 X 5 X 5=150 |
| # samples | 5 | 7 | |
| ** MAII score | log2(5/25*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/150*10)=-1.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TPI1 [Title/Abstract] AND PFKL [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | PFKL | GO:0006002 | fructose 6-phosphate metabolic process | 6444532|6444721 |
| Tgene | PFKL | GO:0006096 | glycolytic process | 6227635|6444532|22923583 |
| Tgene | PFKL | GO:0009749 | response to glucose | 22923583 |
| Tgene | PFKL | GO:0030388 | fructose 1,6-bisphosphate metabolic process | 22923583 |
| Tgene | PFKL | GO:0051259 | protein complex oligomerization | 6444721 |
| Fusion gene information from three resources (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 | AF086180 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
| 3UTR-3UTR | ENST00000229270 | ENST00000349048 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| 3UTR-3UTR | ENST00000229270 | ENST00000403390 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| 3UTR-intron | ENST00000229270 | ENST00000496824 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| 3UTR-3UTR | ENST00000396705 | ENST00000349048 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| 3UTR-3UTR | ENST00000396705 | ENST00000403390 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| 3UTR-intron | ENST00000396705 | ENST00000496824 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| intron-3UTR | ENST00000488464 | ENST00000349048 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| intron-3UTR | ENST00000488464 | ENST00000403390 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| intron-intron | ENST00000488464 | ENST00000496824 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| 3UTR-3UTR | ENST00000535434 | ENST00000349048 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| 3UTR-3UTR | ENST00000535434 | ENST00000403390 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
| 3UTR-intron | ENST00000535434 | ENST00000496824 | TPI1 | chr12 | 6979877 | - | PFKL | chr21 | 45747008 | + |
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FusionProtFeatures for TPI1_PFKL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TPI1 | PFKL |
| Catalyzes the phosphorylation of D-fructose 6-phosphateto fructose 1,6-bisphosphate by ATP, the first committing step ofglycolysis (PubMed:22923583). Negatively regulates the phagocyteoxidative burst in response to bacterial infection by controllingcellular NADPH biosynthesis and NADPH oxidase-derived reactiveoxygen species. Upon macrophage activation, drives the metabolicswitch toward glycolysis, thus preventing glucose turnover thatproduces NADPH via pentose phosphate pathway (By similarity).{ECO:0000250|UniProtKB:P12382, ECO:0000255|HAMAP-Rule:MF_03184,ECO:0000269|PubMed:22923583}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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 TPI1_PFKL |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (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 TPI1_PFKL |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TPI1_PFKL |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | TPI1 | P60174 | DB01593 | Zinc | Triosephosphate isomerase | small molecule | approved|investigational |
| Hgene | TPI1 | P60174 | DB11638 | Artenimol | Triosephosphate isomerase | small molecule | approved|investigational |
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RelatedDiseases for TPI1_PFKL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TPI1 | C1860808 | Triosephosphate Isomerase Deficiency | 3 | UNIPROT |
| Hgene | TPI1 | C0025521 | Inborn Errors of Metabolism | 2 | CTD_human |
| Hgene | TPI1 | C0752252 | Neuromuscular Manifestations | 2 | CTD_human |
| Hgene | TPI1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Hgene | TPI1 | C0002878 | Anemia, Hemolytic | 1 | CTD_human;HPO |
| Hgene | TPI1 | C0002882 | Anemia, Hemolytic, Congenital Nonspherocytic | 1 | CTD_human |
| Hgene | TPI1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | TPI1 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Hgene | TPI1 | C0027868 | Neuromuscular Diseases | 1 | CTD_human |
| Hgene | TPI1 | C0029456 | Osteoporosis | 1 | CTD_human |
| Hgene | TPI1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | TPI1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | TPI1 | C0857501 | acute schizophrenia | 1 | PSYGENET |
| Tgene | PFKL | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Tgene | PFKL | C0525045 | Mood Disorders | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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