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Fusion gene ID: 18731 |
FusionGeneSummary for KIAA1551_UCHL3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KIAA1551_UCHL3 | Fusion gene ID: 18731 | Hgene | Tgene | Gene symbol | KIAA1551 | UCHL3 | Gene ID | 55196 | 7347 |
| Gene name | KIAA1551 | ubiquitin C-terminal hydrolase L3 | |
| Synonyms | C12orf35|GET|UTA2-1 | UCH-L3 | |
| Cytomap | 12p11.21 | 13q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | uncharacterized protein KIAA1551gonad expressed transcriptuncharacterized protein C12orf35 | ubiquitin carboxyl-terminal hydrolase isozyme L3testicular tissue protein Li 221ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)ubiquitin thioesterase L3ubiquitin thiolesterase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9HCM1 | P15374 | |
| Ensembl transtripts involved in fusion gene | ENST00000312561, ENST00000535596, | ENST00000377595, ENST00000606347, | |
| Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 5 X 3 X 5=75 |
| # samples | 5 | 5 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KIAA1551 [Title/Abstract] AND UCHL3 [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 | UCHL3 | GO:0016579 | protein deubiquitination | 9521656 |
| Tgene | UCHL3 | GO:0030163 | protein catabolic process | 21762696 |
| 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 | AW389901 | KIAA1551 | chr12 | 32135006 | + | UCHL3 | chr13 | 76170634 | + |
| * 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 | ENST00000312561 | ENST00000377595 | KIAA1551 | chr12 | 32135006 | + | UCHL3 | chr13 | 76170634 | + |
| 5CDS-intron | ENST00000312561 | ENST00000606347 | KIAA1551 | chr12 | 32135006 | + | UCHL3 | chr13 | 76170634 | + |
| intron-intron | ENST00000535596 | ENST00000377595 | KIAA1551 | chr12 | 32135006 | + | UCHL3 | chr13 | 76170634 | + |
| intron-intron | ENST00000535596 | ENST00000606347 | KIAA1551 | chr12 | 32135006 | + | UCHL3 | chr13 | 76170634 | + |
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FusionProtFeatures for KIAA1551_UCHL3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KIAA1551 | UCHL3 |
| Deubiquitinating enzyme (DUB) that controls levels ofcellular ubiquitin through processing of ubiquitin precursors andubiquitinated proteins. Thiol protease that recognizes andhydrolyzes a peptide bond at the C-terminal glycine of eitherubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys atposition P3", and exhibits a preference towards 'Lys-48'-linkedubiquitin chains. Deubiquitinates ENAC in apical compartments,thereby regulating apical membrane recycling. Indirectly increasesthe phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. Maybe involved in working memory. Can hydrolyze UBB(+1), a mutatedform of ubiquitin which is not effectively degraded by theproteasome and is associated with neurogenerative disorders.{ECO:0000269|PubMed:19154770, ECO:0000269|PubMed:21762696,ECO:0000269|PubMed:22689415, ECO:0000269|PubMed:2530630,ECO:0000269|PubMed:9790970}. |
| 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 KIAA1551_UCHL3 |
| 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 KIAA1551_UCHL3 |
| 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 KIAA1551_UCHL3 |
| 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 KIAA1551_UCHL3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | UCHL3 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
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