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Fusion gene ID: 37048 |
FusionGeneSummary for TACC3_TMEM129 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TACC3_TMEM129 | Fusion gene ID: 37048 | Hgene | Tgene | Gene symbol | TACC3 | TMEM129 | Gene ID | 10460 | 92305 |
| Gene name | transforming acidic coiled-coil containing protein 3 | transmembrane protein 129 | |
| Synonyms | ERIC-1|ERIC1 | D4S2561E | |
| Cytomap | 4p16.3 | 4p16.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transforming acidic coiled-coil-containing protein 3 | E3 ubiquitin-protein ligase TM129RING-type E3 ubiquitin transferase TM129transmembrane protein 129, E3 ubiquitin protein ligase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y6A5 | A0AVI4 | |
| Ensembl transtripts involved in fusion gene | ENST00000313288, | ENST00000303277, ENST00000382936, ENST00000536901, | |
| Fusion gene scores | * DoF score | 2 X 5 X 5=50 | 2 X 1 X 2=4 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/50*10)=0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: TACC3 [Title/Abstract] AND TMEM129 [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 | TMEM129 | GO:0000209 | protein polyubiquitination | 24807418 |
| 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 | SKCM | TCGA-D3-A8GR-06A | TACC3 | chr4 | 1739429 | + | TMEM129 | chr4 | 1720353 | - |
| * 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 | ENST00000313288 | ENST00000303277 | TACC3 | chr4 | 1739429 | + | TMEM129 | chr4 | 1720353 | - |
| Frame-shift | ENST00000313288 | ENST00000382936 | TACC3 | chr4 | 1739429 | + | TMEM129 | chr4 | 1720353 | - |
| Frame-shift | ENST00000313288 | ENST00000536901 | TACC3 | chr4 | 1739429 | + | TMEM129 | chr4 | 1720353 | - |
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FusionProtFeatures for TACC3_TMEM129 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TACC3 | TMEM129 |
| Plays a role in the microtubule-dependent coupling ofthe nucleus and the centrosome. Involved in the processes thatregulate centrosome-mediated interkinetic nuclear migration (INM)of neural progenitors (By similarity). Acts as component of theTACC3/ch-TOG/clathrin complex proposed to contribute tostabilization of kinetochore fibers of the mitotic spindle byacting as inter-microtubule bridge. The TACC3/ch-TOG/clathrincomplex is required for the maintenance of kinetochore fibertension (PubMed:21297582, PubMed:23532825). May be involved in thecontrol of cell growth and differentiation. May contribute tocancer (PubMed:14767476). {ECO:0000250|UniProtKB:Q9JJ11,ECO:0000269|PubMed:14767476, ECO:0000269|PubMed:21297582,ECO:0000269|PubMed:23532825}. | E3 ubiquitin-protein ligase involved in ER-associatedprotein degradation, preferentially associates with the E2 enzymeUBE2J2. Exploited by viral US11 proteins to mediate HLA class Iproteins degradation. {ECO:0000269|PubMed:24807418}. |
| 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 TACC3_TMEM129 |
| 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 TACC3_TMEM129 |
| 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 |
| TACC3 | AKAP9, TTF2, NDEL1, MBD2, CKAP5, KAT2A, KAT2B, RAE1, AHCYL1, SRXN1, SEC23A, RAD23B, CPLX1, UBA2, RAD23A, RAB14, SSSCA1, PAICS, SEC24A, AURKA, ARNT2, VPS37C, TBC1D22B, KIZ, ASPSCR1, CIB3, SNX20, FZR1, SNAP29, PLEKHO2, C17orf59, MRE11A, NTRK1, ADAR, CALD1, CUX1, KIF11, PCDH7, VASP, SLBP, NFS1, XPR1, DHRS2, ZER1, SLAIN2, ARX, BOD1L1, ORC3, ENAH, METTL14, RNF123, PDF, PANK2, RNF135, KIAA1804, PRMT9, DEPDC7, RNF168, WDR90, C2orf69, PRR14L, FRYL, FAM111B, MIA3, CRISP2, CORO6, SPERT, EVL, HSPA8, MVK, HSPBP1, OIP5, GTF2E2, ZFC3H1, CDC27 | TMEM129 | PSMD4, UBE2D3, UBE2J2, DERL1, DERL2, VIMP, VCP, SEL1L, SYVN1, HLA-A, TMEM129, UBE2D1 |
| - 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 TACC3_TMEM129 |
| 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 TACC3_TMEM129 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TACC3 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | TACC3 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
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