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Fusion gene ID: 40568 |
FusionGeneSummary for UBP1_CMTM6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UBP1_CMTM6 | Fusion gene ID: 40568 | Hgene | Tgene | Gene symbol | UBP1 | CMTM6 | Gene ID | 7342 | 54918 |
| Gene name | upstream binding protein 1 | CKLF like MARVEL transmembrane domain containing 6 | |
| Synonyms | LBP-1B|LBP-1a|LBP1A|LBP1B | CKLFSF6|PRO2219 | |
| Cytomap | 3p22.3 | 3p22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | upstream-binding protein 1transcription factor LBP-1 | CKLF-like MARVEL transmembrane domain-containing protein 6chemokine-like factor super family 6chemokine-like factor superfamily 6chemokine-like factor superfamily member 6 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NZI7 | Q9NX76 | |
| Ensembl transtripts involved in fusion gene | ENST00000283629, ENST00000447368, ENST00000283628, ENST00000486388, | ENST00000205636, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 3 X 4 X 3=36 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: UBP1 [Title/Abstract] AND CMTM6 [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 | LD | GBM | TCGA-06-A7TL-01A | UBP1 | chr3 | 33467082 | - | CMTM6 | chr3 | 32533378 | - |
| * 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 | ENST00000283629 | ENST00000205636 | UBP1 | chr3 | 33467082 | - | CMTM6 | chr3 | 32533378 | - |
| Frame-shift | ENST00000447368 | ENST00000205636 | UBP1 | chr3 | 33467082 | - | CMTM6 | chr3 | 32533378 | - |
| Frame-shift | ENST00000283628 | ENST00000205636 | UBP1 | chr3 | 33467082 | - | CMTM6 | chr3 | 32533378 | - |
| intron-3CDS | ENST00000486388 | ENST00000205636 | UBP1 | chr3 | 33467082 | - | CMTM6 | chr3 | 32533378 | - |
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FusionProtFeatures for UBP1_CMTM6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UBP1 | CMTM6 |
| Functions as a transcriptional activator in a promotercontext-dependent manner. Modulates the placental expression ofCYP11A1. Involved in regulation of the alpha-globin gene inerythroid cells. Activation of the alpha-globin promoter inerythroid cells is via synergistic interaction with TFCP2 (Bysimilarity). Involved in regulation of the alpha-globin gene inerythroid cells. Binds strongly to sequences around the HIV-1initiation site and weakly over the TATA-box. Represses HIV-1transcription by inhibiting the binding of TFIID to the TATA-box.{ECO:0000250, ECO:0000269|PubMed:10644752,ECO:0000269|PubMed:2006421, ECO:0000269|PubMed:8114710}. | Master regulator of recycling and plasma membraneexpression of PD-L1/CD274, an immune inhibitory ligand criticalfor immune tolerance to self and antitumor immunity. Associateswith both constitutive and IFNG-induced PD-L1/CD274 at recyclingendosomes, where it protects PD-L1/CD274 from being targeted forlysosomal degradation, likely by preventing its STUB1-mediatedubiquitination. May stabilize PD-L1/CD274 expression on antigenpresenting cells and potentiates inhibitory signaling byPDCD1/CD279, its receptor on T-cells, ultimately triggering T-cellanergy. {ECO:0000269|PubMed:28813410,ECO:0000269|PubMed:28813417}. |
| 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 UBP1_CMTM6 |
| 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 UBP1_CMTM6 |
| 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 |
| UBP1 | TFCP2, WWP2, ELAVL1, TFAP4, WDR4, USP5, TRIM28, GLYCTK, ZNF184, JAK2, ANKRD29, PRMT6, XPO1, FOXA1, FOXC1, FOXC2, FOXD3, FOXE1, FOXN1, FOXP1, FOXP3, STK35, EVL, FAM19A3, GK, MTHFD2 | CMTM6 | DUSP10, XRCC6, SUMO2, ATP13A2, DNMT3B, PPBP, ELAVL1, FAM9B, SPINT2, GLIPR1, PMF1, KIR2DS2, P2RY12, LPAR1, SCARA3, PMEL, PTPRN, TMEM237 |
| - 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 UBP1_CMTM6 |
| 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 UBP1_CMTM6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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