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Fusion gene ID: 37415 |
FusionGeneSummary for TBC1D8B_RNF128 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TBC1D8B_RNF128 | Fusion gene ID: 37415 | Hgene | Tgene | Gene symbol | TBC1D8B | RNF128 | Gene ID | 54885 | 79589 |
| Gene name | TBC1 domain family member 8B | ring finger protein 128, E3 ubiquitin protein ligase | |
| Synonyms | GRAMD8B | GRAIL | |
| Cytomap | Xq22.3 | Xq22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TBC1 domain family member 8BRP11-321G1.1TBC1 domain family, member 8B (with GRAM domain) | E3 ubiquitin-protein ligase RNF128RING-type E3 ubiquitin transferase RNF128gene related to anergy in lymphocytes protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q0IIM8 | Q8TEB7 | |
| Ensembl transtripts involved in fusion gene | ENST00000357242, ENST00000310452, ENST00000481617, ENST00000276175, | ENST00000324342, ENST00000255499, | |
| Fusion gene scores | * DoF score | 1 X 2 X 3=6 | 2 X 4 X 4=32 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/6*10)=2.32192809488736 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TBC1D8B [Title/Abstract] AND RNF128 [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 |
| 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 | BLCA | TCGA-C4-A0F6-01A | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106038810 | + |
| TCGA | LD | OV | TCGA-20-1682-01A | TBC1D8B | chrX | 106046035 | + | RNF128 | chrX | 106034296 | + |
| TCGA | RV | UCS | TCGA-N6-A4V9-01A | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106028295 | + |
| * 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 |
| In-frame | ENST00000357242 | ENST00000324342 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106038810 | + |
| In-frame | ENST00000357242 | ENST00000255499 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106038810 | + |
| In-frame | ENST00000310452 | ENST00000324342 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106038810 | + |
| In-frame | ENST00000310452 | ENST00000255499 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106038810 | + |
| In-frame | ENST00000481617 | ENST00000324342 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106038810 | + |
| In-frame | ENST00000481617 | ENST00000255499 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106038810 | + |
| In-frame | ENST00000276175 | ENST00000324342 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106038810 | + |
| In-frame | ENST00000276175 | ENST00000255499 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106038810 | + |
| 5UTR-3CDS | ENST00000357242 | ENST00000324342 | TBC1D8B | chrX | 106046035 | + | RNF128 | chrX | 106034296 | + |
| 5UTR-3CDS | ENST00000357242 | ENST00000255499 | TBC1D8B | chrX | 106046035 | + | RNF128 | chrX | 106034296 | + |
| 5UTR-3CDS | ENST00000310452 | ENST00000324342 | TBC1D8B | chrX | 106046035 | + | RNF128 | chrX | 106034296 | + |
| 5UTR-3CDS | ENST00000310452 | ENST00000255499 | TBC1D8B | chrX | 106046035 | + | RNF128 | chrX | 106034296 | + |
| 5UTR-3CDS | ENST00000481617 | ENST00000324342 | TBC1D8B | chrX | 106046035 | + | RNF128 | chrX | 106034296 | + |
| 5UTR-3CDS | ENST00000481617 | ENST00000255499 | TBC1D8B | chrX | 106046035 | + | RNF128 | chrX | 106034296 | + |
| intron-3CDS | ENST00000276175 | ENST00000324342 | TBC1D8B | chrX | 106046035 | + | RNF128 | chrX | 106034296 | + |
| intron-3CDS | ENST00000276175 | ENST00000255499 | TBC1D8B | chrX | 106046035 | + | RNF128 | chrX | 106034296 | + |
| Frame-shift | ENST00000357242 | ENST00000324342 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106028295 | + |
| Frame-shift | ENST00000357242 | ENST00000255499 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106028295 | + |
| Frame-shift | ENST00000310452 | ENST00000324342 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106028295 | + |
| Frame-shift | ENST00000310452 | ENST00000255499 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106028295 | + |
| Frame-shift | ENST00000481617 | ENST00000324342 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106028295 | + |
| Frame-shift | ENST00000481617 | ENST00000255499 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106028295 | + |
| Frame-shift | ENST00000276175 | ENST00000324342 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106028295 | + |
| Frame-shift | ENST00000276175 | ENST00000255499 | TBC1D8B | chrX | 106046213 | + | RNF128 | chrX | 106028295 | + |
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FusionProtFeatures for TBC1D8B_RNF128 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TBC1D8B | RNF128 |
| May act as a GTPase-activating protein for Rab familyprotein(s). | E3 ubiquitin-protein ligase that catalyzes 'Lys-48'- and'Lys-63'-linked polyubiquitin chains formation. Functions as aninhibitor of cytokine gene transcription. Inhibits IL2 and IL4transcription, thereby playing an important role in the inductionof the anergic phenotype, a long-term stable state of T-lymphocyteunresponsiveness to antigenic stimulation associated with theblockade of interleukin production. Ubiquitinates ARPC5 with 'Lys-48' linkages and COR1A with 'Lys-63' linkages leading to theirdegradation, down-regulation of these cytosleletal componentsresults in impaired lamellipodium formation and reducedaccumulation of F-actin at the immunological synapse. Functions inthe patterning of the dorsal ectoderm; sensitizes ectoderm torespond to neural-inducing signals. {ECO:0000269|PubMed:12705856,ECO:0000269|PubMed:22016387}. |
| 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 |
| Hgene | >TBC1D8B | chrX:106046213 | chrX:106038810 | ENST00000310452 | + | 1 | 12 | 145_212 | 43 | 633 | Domain | Note=GRAM 1 |
| Hgene | >TBC1D8B | chrX:106046213 | chrX:106038810 | ENST00000310452 | + | 1 | 12 | 285_353 | 43 | 633 | Domain | Note=GRAM 2 |
| Hgene | >TBC1D8B | chrX:106046213 | chrX:106038810 | ENST00000310452 | + | 1 | 12 | 487_674 | 43 | 633 | Domain | Rab-GAP TBC |
| Hgene | >TBC1D8B | chrX:106046213 | chrX:106038810 | ENST00000310452 | + | 1 | 12 | 858_893 | 43 | 633 | Domain | EF-hand |
| Hgene | >TBC1D8B | chrX:106046213 | chrX:106038810 | ENST00000357242 | + | 1 | 21 | 145_212 | 43 | 1121 | Domain | Note=GRAM 1 |
| Hgene | >TBC1D8B | chrX:106046213 | chrX:106038810 | ENST00000357242 | + | 1 | 21 | 285_353 | 43 | 1121 | Domain | Note=GRAM 2 |
| Hgene | >TBC1D8B | chrX:106046213 | chrX:106038810 | ENST00000357242 | + | 1 | 21 | 487_674 | 43 | 1121 | Domain | Rab-GAP TBC |
| Hgene | >TBC1D8B | chrX:106046213 | chrX:106038810 | ENST00000357242 | + | 1 | 21 | 858_893 | 43 | 1121 | Domain | EF-hand |
| Tgene | RNF128 | chrX:106046213 | chrX:106038810 | ENST00000255499 | + | 5 | 7 | 75_183 | 384 | 429 | Domain | Note=PA |
| Tgene | RNF128 | chrX:106046213 | chrX:106038810 | ENST00000324342 | + | 5 | 7 | 75_183 | 358 | 403 | Domain | Note=PA |
| Tgene | RNF128 | chrX:106046213 | chrX:106038810 | ENST00000255499 | + | 5 | 7 | 208_228 | 384 | 429 | Transmembrane | Helical |
| Tgene | RNF128 | chrX:106046213 | chrX:106038810 | ENST00000324342 | + | 5 | 7 | 208_228 | 358 | 403 | Transmembrane | Helical |
| Tgene | RNF128 | chrX:106046213 | chrX:106038810 | ENST00000255499 | + | 5 | 7 | 277_318 | 384 | 429 | Zinc finger | RING-type%3B atypical |
| Tgene | RNF128 | chrX:106046213 | chrX:106038810 | ENST00000324342 | + | 5 | 7 | 277_318 | 358 | 403 | Zinc finger | RING-type%3B atypical |
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FusionGeneSequence for TBC1D8B_RNF128 |
| 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 TBC1D8B_RNF128 |
| 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 |
| TBC1D8B | RNF128 | OTUB1, USP8, UBE2N, CD40LG, UBE2I, UBE2T, RNF128, UBE2E1, UBE2H, UBE2D1, TP53, APPBP2, CEP76, TBK1, CD83 |
| - 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 TBC1D8B_RNF128 |
| 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 TBC1D8B_RNF128 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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