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Fusion gene ID: 39913 |
FusionGeneSummary for TTBK2_UBR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TTBK2_UBR1 | Fusion gene ID: 39913 | Hgene | Tgene | Gene symbol | TTBK2 | UBR1 | Gene ID | 146057 | 197131 |
| Gene name | tau tubulin kinase 2 | ubiquitin protein ligase E3 component n-recognin 1 | |
| Synonyms | SCA11|TTBK | JBS | |
| Cytomap | 15q15.2 | 15q15.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tau-tubulin kinase 2 | E3 ubiquitin-protein ligase UBR1E3a ligaseN-recognin-1RING-type E3 ubiquitin transferase UBR1ubiquitin ligase E3 alpha-Iubiquitin-protein ligase E3-alphaubiquitin-protein ligase E3-alpha-1ubiquitin-protein ligase E3-alpha-I | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q6IQ55 | Q8IWV7 | |
| Ensembl transtripts involved in fusion gene | ENST00000267890, ENST00000567840, ENST00000567274, ENST00000567485, | ENST00000290650, ENST00000382177, ENST00000568782, | |
| Fusion gene scores | * DoF score | 6 X 4 X 6=144 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TTBK2 [Title/Abstract] AND UBR1 [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 |
| Hgene | TTBK2 | GO:0007026 | negative regulation of microtubule depolymerization | 26323690 |
| Hgene | TTBK2 | GO:0018105 | peptidyl-serine phosphorylation | 21548880|26323690 |
| Hgene | TTBK2 | GO:1904527 | negative regulation of microtubule binding | 26323690 |
| Tgene | UBR1 | GO:0071233 | cellular response to leucine | 20298436 |
| 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 | LUSC | TCGA-56-7822-01A | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| * 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 | ENST00000267890 | ENST00000290650 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| 5CDS-3UTR | ENST00000267890 | ENST00000382177 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| 5CDS-intron | ENST00000267890 | ENST00000568782 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| Frame-shift | ENST00000567840 | ENST00000290650 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| 5CDS-3UTR | ENST00000567840 | ENST00000382177 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| 5CDS-intron | ENST00000567840 | ENST00000568782 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| Frame-shift | ENST00000567274 | ENST00000290650 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| 5CDS-3UTR | ENST00000567274 | ENST00000382177 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| 5CDS-intron | ENST00000567274 | ENST00000568782 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| intron-3CDS | ENST00000567485 | ENST00000290650 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| intron-3UTR | ENST00000567485 | ENST00000382177 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
| intron-intron | ENST00000567485 | ENST00000568782 | TTBK2 | chr15 | 43075617 | - | UBR1 | chr15 | 43309379 | - |
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FusionProtFeatures for TTBK2_UBR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TTBK2 | UBR1 |
| Serine/threonine kinase that acts as a key regulator ofciliogenesis: controls the initiation of ciliogenesis by bindingto the distal end of the basal body and promoting the removal ofCCP110, which caps the mother centriole, leading to therecruitment of IFT proteins, which build the ciliary axoneme. Hassome substrate preference for proteins that are alreadyphosphorylated on a Tyr residue at the +2 position relative to thephosphorylation site. Able to phosphorylate tau on serines invitro. {ECO:0000269|PubMed:21548880, ECO:0000269|PubMed:23141541}. | E3 ubiquitin-protein ligase which is a component of theN-end rule pathway. Recognizes and binds to proteins bearingspecific N-terminal residues that are destabilizing according tothe N-end rule, leading to their ubiquitination and subsequentdegradation. May be involved in pancreatic homeostasis. Bindsleucine and is a negative regulator of the leucine-mTOR signalingpathway, thereby controlling cell growth.{ECO:0000269|PubMed:15548684, ECO:0000269|PubMed:16311597,ECO:0000269|PubMed:20298436, ECO:0000269|PubMed:20835242}. |
| 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 TTBK2_UBR1 |
| 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 TTBK2_UBR1 |
| 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 |
| TTBK2 | TTBK1, ZWINT, PTEN, COPS5, CEP164, KLHL12, FKBP15, MCM2 | UBR1 | ARL15, NDUFA4L2, TAC3, ANXA3, ARL3, BTBD2, CDC42, DLEU1, DNAJB11, FTH1, LAMA4, PTPRS, TP53I3, ARL4D, SERPINB9, UBE2B, HNRNPA1, FOS, NSFL1C, FAF2, FAF1, UBXN7, UBXN1, UBE2Z, TIRAP, GSK3B, NUDT3, BCL2L1, SPRY2, UBE2A, LAMTOR3, GADD45A, RECQL4, CUL2, USP5, ZNF593, PFAS, VCL, UCHL3, CSE1L, XPO1, ATP6V1A, DNPH1, CBX8, SHFM1, UBE2D1, UBC, CDC6, NXF1, ITM2B, NXPH2, FGL1, ADAMTS12, SCML4, MRM1, LIPT1, TGFB1, CCDC130, DMTN, PSG1, BMP7, LDLRAD4, NTRK1, NES, NPB, PPP1R32, PDGFD, NRP1, CRH, INSL5, GFAP, CROCC, SPATA24, RABGEF1, VIM, EPN3, SIL1, CLCC1, POLDIP3, PNLIPRP1, CRHBP, SPINK2, PRSS23, BRCA1 |
| - 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 TTBK2_UBR1 |
| 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 TTBK2_UBR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TTBK2 | C0087012 | Ataxia, Spinocerebellar | 1 | CTD_human |
| Tgene | UBR1 | C0175692 | Johanson-Blizzard syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
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