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Fusion gene ID: 14173 |
FusionGeneSummary for FZR1_TBC1D17 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FZR1_TBC1D17 | Fusion gene ID: 14173 | Hgene | Tgene | Gene symbol | FZR1 | TBC1D17 | Gene ID | 51343 | 79735 |
| Gene name | fizzy and cell division cycle 20 related 1 | TBC1 domain family member 17 | |
| Synonyms | CDC20C|CDH1|FZR|FZR2|HCDH|HCDH1 | - | |
| Cytomap | 19p13.3 | 19q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fizzy-related protein homologCDC20 homolog 1CDC20-like 1bCDC20-like protein 1cdh1/Hct1 homologfizzy/cell division cycle 20 related 1 | TBC1 domain family member 17 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9UM11 | Q9HA65 | |
| Ensembl transtripts involved in fusion gene | ENST00000441788, ENST00000313639, ENST00000395095, | ENST00000221543, ENST00000535102, ENST00000598789, | |
| Fusion gene scores | * DoF score | 7 X 5 X 7=245 | 6 X 5 X 5=150 |
| # samples | 8 | 6 | |
| ** MAII score | log2(8/245*10)=-1.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FZR1 [Title/Abstract] AND TBC1D17 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| Hgene | FZR1 | GO:0031145 | anaphase-promoting complex-dependent catabolic process | 18662541|21596315 |
| Hgene | FZR1 | GO:0072425 | signal transduction involved in G2 DNA damage checkpoint | 18662541 |
| Hgene | FZR1 | GO:1904668 | positive regulation of ubiquitin protein ligase activity | 11459826 |
| 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 |
| TCGA | RV | LGG | TCGA-TM-A7CF-01A | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| TCGA | RV | LGG | TCGA-TM-A7CF-02A | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| * 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 |
| Frame-shift | ENST00000441788 | ENST00000221543 | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| Frame-shift | ENST00000441788 | ENST00000535102 | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| 5CDS-intron | ENST00000441788 | ENST00000598789 | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| Frame-shift | ENST00000313639 | ENST00000221543 | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| Frame-shift | ENST00000313639 | ENST00000535102 | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| 5CDS-intron | ENST00000313639 | ENST00000598789 | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| Frame-shift | ENST00000395095 | ENST00000221543 | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| Frame-shift | ENST00000395095 | ENST00000535102 | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
| 5CDS-intron | ENST00000395095 | ENST00000598789 | FZR1 | chr19 | 3532648 | + | TBC1D17 | chr19 | 50390733 | + |
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FusionProtFeatures for FZR1_TBC1D17 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FZR1 | TBC1D17 |
| Probable GTPase-activating protein for Rab8; itstransient association with Rab8 is mediated by OPTN. InhibitsRab8-mediated endocytic trafficking, such as of transferrinreceptor (TfR) and reduces Rab8 recruitnment to tubules emanatingfrom the endocytic recycling compartment (ERC). Involved inregulation of autophagy. Mediates inhibition of autophagy causedby the OPTN variant GLC1E LYS-50; the function requires itscatalytic activity, however, the involved Rab is not known.{ECO:0000269|PubMed:22854040, ECO:0000269|PubMed:24752605}. |
| 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 FZR1_TBC1D17 |
| 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 FZR1_TBC1D17 |
| 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 |
| FZR1 | CDC27, SKIL, CDC14A, FBXO5, CDT1, MAD2L2, TPX2, ANAPC2, CDC20, CCNA2, IST1, CSF3R, SKP2, HSF2, SETD8, UBE2S, TK1, CDC6, CCNB1, GRIA1, EPHA4, TAS2R13, PIM1, CCNA1, CDK2, CDK5, E2F1, MAPK8, CDK1, RB1, ID1, NINL, SIX1, CLSPN, CDC25A, FOXM1, E2F3, MAK, RNF34, CKAP2, CKS1B, MOAP1, AURKB, USP37, PTTG1, GMNN, EMILIN1, DDB1, BRSK2, SPRTN, UBE2C, UBE2D1, UBE2D3, UBE2K, SMURF1, MDC1, ARHGAP32, DAXX, EYA1, BUB1B, ANAPC11, CDC14B, PTEN, VHL, SIRT2, CUEDC2, PHF8, CUL1, BTRC, PLK1, SOX2, HECW2, RACGAP1, STAU1, ANAPC4, TP53, ZC3HC1, CDR2, RBBP8, USP1, FANCD2, DCPS, DNM1L, ANAPC1, CDC26, ANAPC7, ANAPC5, CDC16, CDC23, ANAPC10, TACC3, TTK, NEDD9, TRIM33, NEK2, HCCS, CDCA3, LRRC46, RRM2, SENP2, FMR1, BEX1, BLID, CCL5, CYP17A1, DKK3, EPSTI1, MTA3, NAT2, PSMC3IP, THRSP, ANAPC15, PARK2, PRKDC, PAX3, KIAA0101, CCND1, PRR36, ANAPC13, CTGF, C16orf87, SRP68, CKS2, RRM2B, GLB1, HSPA2, HSP90AA1, CHEK2, CHEK1, WEE1, TRIM25, MCPH1, RNF157, CCNF, NUP98, HOXD13, LNP1, HHEX | TBC1D17 | CDKN2D, OPTN, CCT5, FBL, RAB1A, CALCOCO1, TAX1BP1, ASCC2, GTF3C1, MAP1LC3B, MAP1LC3A, GABARAPL1, CUL2, RAB5A, RAB5B, RAB5C, PARVA, CORO1B, OSBP, ZRANB2, LGR4, RAB8A, UBAC2, STX12, CCDC121, XPO1, UBXN8, TBC1D15, ZBBX, TES |
| - 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 FZR1_TBC1D17 |
| 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 |
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RelatedDiseases for FZR1_TBC1D17 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FZR1 | C0032578 | Polyploidy | 1 | CTD_human |
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