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Fusion gene ID: 30644 |
FusionGeneSummary for RBCK1_TCTEX1D2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBCK1_TCTEX1D2 | Fusion gene ID: 30644 | Hgene | Tgene | Gene symbol | RBCK1 | TCTEX1D2 | Gene ID | 10616 | 255758 |
| Gene name | RANBP2-type and C3HC4-type zinc finger containing 1 | Tctex1 domain containing 2 | |
| Synonyms | C20orf18|HOIL-1|HOIL1|PBMEI|PGBM1|RBCK2|RNF54|UBCE7IP3|XAP3|XAP4|ZRANB4 | SRTD17 | |
| Cytomap | 20p13 | 3q29 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ranBP-type and C3HC4-type zinc finger-containing protein 1HBV-associated factor 4RBCC protein interacting with PKC1RING finger protein 54RING-type E3 ubiquitin transferase HOIL-1heme-oxidized IRP2 ubiquitin ligase 1hepatitis B virus X-associated pro | tctex1 domain-containing protein 2 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q9BYM8 | Q8WW35 | |
| Ensembl transtripts involved in fusion gene | ENST00000356286, ENST00000353660, ENST00000382181, ENST00000475269, ENST00000400245, ENST00000400247, | ENST00000491186, ENST00000325318, | |
| Fusion gene scores | * DoF score | 7 X 4 X 6=168 | 7 X 5 X 6=210 |
| # samples | 6 | 9 | |
| ** MAII score | log2(6/168*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/210*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RBCK1 [Title/Abstract] AND TCTEX1D2 [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 | RBCK1 | GO:0000209 | protein polyubiquitination | 12629548|17006537 |
| Hgene | RBCK1 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 17449468 |
| Hgene | RBCK1 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 19136968|21455173 |
| Hgene | RBCK1 | GO:0050852 | T cell receptor signaling pathway | 20005846 |
| Hgene | RBCK1 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 19136968 |
| Hgene | RBCK1 | GO:0097039 | protein linear polyubiquitination | 21455173|21455180|21455181|23453807 |
| 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 | BF943534 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| * 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 |
| 5CDS-intron | ENST00000356286 | ENST00000491186 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| 5CDS-intron | ENST00000356286 | ENST00000325318 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| 5CDS-intron | ENST00000353660 | ENST00000491186 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| 5CDS-intron | ENST00000353660 | ENST00000325318 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| 5UTR-intron | ENST00000382181 | ENST00000491186 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| 5UTR-intron | ENST00000382181 | ENST00000325318 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| intron-intron | ENST00000475269 | ENST00000491186 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| intron-intron | ENST00000475269 | ENST00000325318 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| intron-intron | ENST00000400245 | ENST00000491186 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| intron-intron | ENST00000400245 | ENST00000325318 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| intron-intron | ENST00000400247 | ENST00000491186 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
| intron-intron | ENST00000400247 | ENST00000325318 | RBCK1 | chr20 | 398240 | - | TCTEX1D2 | chr3 | 196027334 | - |
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FusionProtFeatures for RBCK1_TCTEX1D2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBCK1 | TCTEX1D2 |
| E3 ubiquitin-protein ligase, which accepts ubiquitinfrom specific E2 ubiquitin-conjugating enzymes, such asUBE2L3/UBCM4, and then transfers it to substrates. Functions as anE3 ligase for oxidized IREB2 and both heme and oxygen arenecessary for IREB2 ubiquitination. Promotes ubiquitination ofTAB2 and IRF3 and their degradation by the proteasome. Componentof the LUBAC complex which conjugates linear ('Met-1'-linked)polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBACconjugates linear polyubiquitin to IKBKG and RIPK1 and is involvedin activation of the canonical NF-kappa-B and the JNK signalingpathways. Linear ubiquitination mediated by the LUBAC complexinterferes with TNF-induced cell death and thereby preventsinflammation. LUBAC is proposed to be recruited to the TNF-R1signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linearpolyubiquitin to IKBKG and possibly other components contributingto the stability of the complex. Together with FAM105B/otulin, theLUBAC complex regulates the canonical Wnt signaling duringangiogenesis. Binds polyubiquitin of different linkage types.{ECO:0000269|PubMed:12629548, ECO:0000269|PubMed:17006537,ECO:0000269|PubMed:17449468, ECO:0000269|PubMed:18711448,ECO:0000269|PubMed:19136968, ECO:0000269|PubMed:20005846,ECO:0000269|PubMed:21455173, ECO:0000269|PubMed:21455180,ECO:0000269|PubMed:21455181}. | Required for proper retrograde ciliary transport.{ECO:0000269|PubMed:26044572}. |
| 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 RBCK1_TCTEX1D2 |
| 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 RBCK1_TCTEX1D2 |
| 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 RBCK1_TCTEX1D2 |
| 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 RBCK1_TCTEX1D2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RBCK1 | C0018800 | Cardiomegaly | 1 | CTD_human |
| Hgene | RBCK1 | C4014605 | POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY | 1 | ORPHANET;UNIPROT |
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