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Fusion gene ID: 5774 |
FusionGeneSummary for CCDC117_UXT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CCDC117_UXT | Fusion gene ID: 5774 | Hgene | Tgene | Gene symbol | CCDC117 | UXT | Gene ID | 150275 | 8409 |
| Gene name | coiled-coil domain containing 117 | ubiquitously expressed prefoldin like chaperone | |
| Synonyms | dJ366L4.1 | ART-27|STAP1 | |
| Cytomap | 22q12.1 | Xp11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | coiled-coil domain-containing protein 117 | protein UXTSKP2-associated alpha PFD 1androgen receptor trapped clone 27 proteinubiquitously expressed transcript protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8IWD4 | Q9UBK9 | |
| Ensembl transtripts involved in fusion gene | ENST00000249064, ENST00000448492, ENST00000421503, ENST00000443309, | ENST00000333119, ENST00000460840, ENST00000335890, | |
| Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 1 X 1 X 1=1 |
| # samples | 7 | 1 | |
| ** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CCDC117 [Title/Abstract] AND UXT [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 | UXT | GO:0000122 | negative regulation of transcription by RNA polymerase II | 21730289 |
| 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 | BF433106 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| * 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 |
| 3UTR-intron | ENST00000249064 | ENST00000333119 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| 3UTR-intron | ENST00000249064 | ENST00000460840 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| 3UTR-intron | ENST00000249064 | ENST00000335890 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| intron-intron | ENST00000448492 | ENST00000333119 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| intron-intron | ENST00000448492 | ENST00000460840 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| intron-intron | ENST00000448492 | ENST00000335890 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| intron-intron | ENST00000421503 | ENST00000333119 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| intron-intron | ENST00000421503 | ENST00000460840 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| intron-intron | ENST00000421503 | ENST00000335890 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| intron-intron | ENST00000443309 | ENST00000333119 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| intron-intron | ENST00000443309 | ENST00000460840 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
| intron-intron | ENST00000443309 | ENST00000335890 | CCDC117 | chr22 | 29185161 | + | UXT | chrX | 47511195 | + |
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FusionProtFeatures for CCDC117_UXT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CCDC117 | UXT |
| Involved in gene transcription regulation(PubMed:28106301, PubMed:21730289). Acts in concert with thecorepressor URI1 to regulate androgen receptor AR-mediatedtranscription (PubMed:11854421, PubMed:21730289). Together withURI1, associates with chromatin to the NKX3-1 promoter region(PubMed:21730289). Negatively regulates the transcriptionalactivity of the estrogen receptor ESR1 by inducing itstranslocation into the cytoplasm (PubMed:28106301). May act asnuclear chaperone that facilitates the formation of the NF-kappa-Benhanceosome and thus positively regulates NF-kappa-Btranscription activity (PubMed:17620405, PubMed:21307340).Potential component of mitochondrial-associated LRPPRC, amultidomain organizer that potentially integrates mitochondria andthe microtubular cytoskeleton with chromosome remodeling(PubMed:17554592). Increasing concentrations of UXT contributes toprogressive aggregation of mitochondria and cell death potentiallythrough its association with LRPPRC (PubMed:17554592). Suppressescell transformation and it might mediate this function byinteraction and inhibition of the biological activity of cellproliferation and survival stimulatory factors like MECOM(PubMed:17635584). {ECO:0000269|PubMed:11827465,ECO:0000269|PubMed:11854421, ECO:0000269|PubMed:16221885,ECO:0000269|PubMed:17554592, ECO:0000269|PubMed:17620405,ECO:0000269|PubMed:17635584, ECO:0000269|PubMed:21307340,ECO:0000269|PubMed:21730289, ECO:0000269|PubMed:28106301}. Isoform 1: Plays a role in protecting cells against TNF-alpha-induced apoptosis by preventing the recruitment of FADD andcaspase 8 to the apoptotic complex I, composed of TRADD, TRAF2 andRIPK1/RIP. {ECO:0000269|PubMed:21307340}. |
| 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 CCDC117_UXT |
| 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 CCDC117_UXT |
| 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 CCDC117_UXT |
| 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 CCDC117_UXT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | UXT | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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