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Fusion gene ID: 40968 |
FusionGeneSummary for USP12_NXF3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: USP12_NXF3 | Fusion gene ID: 40968 | Hgene | Tgene | Gene symbol | USP12 | NXF3 | Gene ID | 219333 | 56000 |
| Gene name | ubiquitin specific peptidase 12 | nuclear RNA export factor 3 | |
| Synonyms | UBH1|USP12L1 | - | |
| Cytomap | 13q12.13 | Xq22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ubiquitin carboxyl-terminal hydrolase 12deubiquitinating enzyme 12ubiquitin specific protease 12 like 1ubiquitin thioesterase 12ubiquitin thiolesterase 12ubiquitin-hydrolyzing enzyme 1ubiquitin-specific-processing protease 12 | nuclear RNA export factor 3TAP-like protein 3TAPL-3 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O75317 | Q9H4D5 | |
| Ensembl transtripts involved in fusion gene | ENST00000282344, | ENST00000395065, ENST00000425644, ENST00000425463, | |
| Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 4 X 2 X 2=16 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: USP12 [Title/Abstract] AND NXF3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | USP12 | GO:0016579 | protein deubiquitination | 19075014|24145035 |
| Tgene | NXF3 | GO:0006406 | mRNA export from nucleus | 11545741 |
| 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 | SARC | TCGA-DX-A3LY-01B | USP12 | chr13 | 27664020 | - | NXF3 | chrX | 102339423 | - |
| * 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 | ENST00000282344 | ENST00000395065 | USP12 | chr13 | 27664020 | - | NXF3 | chrX | 102339423 | - |
| 5CDS-5UTR | ENST00000282344 | ENST00000425644 | USP12 | chr13 | 27664020 | - | NXF3 | chrX | 102339423 | - |
| 5CDS-5UTR | ENST00000282344 | ENST00000425463 | USP12 | chr13 | 27664020 | - | NXF3 | chrX | 102339423 | - |
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FusionProtFeatures for USP12_NXF3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| USP12 | NXF3 |
| Deubiquitinating enzyme. Has almost no deubiquitinatingactivity by itself and requires the interaction with WDR20 andWDR48 to have a high activity (PubMed:19075014, PubMed:27373336).Not involved in deubiquitination of monoubiquitinated FANCD2(PubMed:19075014). In complex with WDR48, acts as a potentialtumor suppressor by positively regulating PHLPP1 stability(PubMed:24145035). {ECO:0000269|PubMed:19075014,ECO:0000269|PubMed:24145035, ECO:0000269|PubMed:27373336}. | May function as a tissue-specific nuclear mRNA exportfactor. |
| 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 |
| Tgene | >NXF3 | chr13:27664020 | chrX:102339423 | ENST00000395065 | - | 1 | 20 | 296_302 | 65 | 516 | Compositional bias | Note=Leu-rich |
| Tgene | >NXF3 | chr13:27664020 | chrX:102339423 | ENST00000395065 | - | 1 | 20 | 481_484 | 65 | 516 | Compositional bias | Note=Poly-Ser |
| Tgene | >NXF3 | chr13:27664020 | chrX:102339423 | ENST00000395065 | - | 1 | 20 | 113_192 | 65 | 516 | Domain | Note=RRM |
| Tgene | >NXF3 | chr13:27664020 | chrX:102339423 | ENST00000395065 | - | 1 | 20 | 344_494 | 65 | 516 | Domain | NTF2 |
| - 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 | >USP12 | chr13:27664020 | chrX:102339423 | ENST00000282344 | - | 6 | 9 | 39_369 | 244 | 371 | Domain | Note=USP |
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FusionGeneSequence for USP12_NXF3 |
| 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. |
| >In-frame_USP12_ENST00000282344_chr13_27664020_-_NXF3_ENST00000395065_chrX_102339423_-_711aa MEILMTVSKFASICTMGANASALEKEIGPEQFPVNEHYFGLVNFGNTCYCNSVLQALYFCRPFREKVLAYKSQPRKKESLLTCLADLFHS IATQKKKVGVIPPKKFITRLRKENELFDNYMQQDAHEFLNYLLNTIADILQEERKQEKQNGRLPNGNIDNENNNSTPDPTWVHEIFQGTL TNETRCLTCETISSKDEDFLDLSVDVEQNTSITHCLRGFSNTETLCSEYKYYCEECRSKQEAHKRTPYTISPYNRKGSFRKQDQTHVNME REQKPPERRMEGNMPDGTLGSWFKITVPFGIKYNEKWLLNLIQNECSVPFVPVEFHYENMHASFFVENASIAYALKNVSGKIWDEDNEKI SIFVNPAGIPHFVHRELKSEKVEQIKLAMNQQCDVSQEALDIQRLPFYPDMVNRDTKMASNPRKCMAASLDVHEENIPTVMSAGEMDKWK GIEPGEKCADRSPVCTTFSDTSSNINSILELFPKLLCLDGQQSPRATLCGTEAHKRLPTCKGSFFGSEMLKNLVLQFLQQYYLIYDSGDR QGLLSAYHDEACFSLSIPFNPEDSAPSSFCKFFKDSRNIKILKDPYLRGELLKHTKLDIVDSLSALPKTQHDLSSFLVDMWYQTEWMLCF |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_USP12_ENST00000282344_chr13_27664020_-_NXF3_ENST00000395065_chrX_102339423_-_2133nt ATGGAAATCCTAATGACAGTCTCCAAATTCGCCTCCATCTGTACCATGGGCGCCAATGCTTCGGCATTAGAGAAAGAGATTGGTCCAGAA CAGTTTCCGGTCAATGAGCACTATTTTGGATTAGTCAATTTTGGGAATACCTGCTACTGCAATTCAGTTCTTCAAGCACTTTATTTTTGT CGTCCATTTCGGGAAAAAGTTCTTGCGTATAAGAGTCAACCTAGGAAAAAGGAGAGCCTTCTTACATGCTTAGCAGATCTCTTCCATAGC ATAGCCACTCAGAAGAAAAAGGTTGGAGTAATACCCCCTAAGAAGTTCATCACAAGATTACGGAAAGAAAATGAGCTTTTTGACAACTAC ATGCAACAAGATGCCCATGAATTCTTAAATTACCTACTAAATACAATTGCTGATATTTTACAAGAAGAGAGAAAGCAGGAAAAACAAAAT GGTCGTTTACCTAATGGTAATATTGATAATGAAAATAATAACAGCACACCAGACCCAACGTGGGTTCATGAGATTTTTCAGGGAACATTA ACTAATGAAACCAGATGTCTTACTTGTGAAACTATAAGCAGCAAAGATGAAGATTTTTTAGACCTTTCTGTTGACGTGGAACAAAATACA TCAATTACTCACTGCTTAAGGGGTTTCAGCAACACAGAAACTCTGTGCAGTGAATACAAGTATTACTGTGAAGAGTGTCGCAGCAAACAG GAAGCACACAAACGCACTCCCTATACTATTTCACCCTATAATCGGAAAGGCAGTTTTCGTAAACAAGACCAAACCCACGTTAACATGGAG AGAGAGCAAAAACCTCCAGAGAGAAGAATGGAGGGGAACATGCCGGATGGGACCTTAGGGAGCTGGTTCAAGATCACAGTTCCCTTTGGC ATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGTTTCACTATGAAAACATG CATGCCAGCTTCTTTGTGGAGAATGCCAGCATCGCCTATGCACTGAAGAATGTCAGTGGCAAGATTTGGGATGAGGATAATGAAAAGATA TCAATCTTTGTCAACCCTGCTGGCATACCCCACTTTGTGCACAGGGAGCTGAAGTCAGAAAAGGTGGAGCAGATAAAGCTGGCCATGAAC CAACAGTGTGATGTCTCCCAGGAAGCTCTTGATATCCAGAGACTCCCATTTTACCCAGACATGGTGAACCGTGATACTAAGATGGCATCG AATCCTAGAAAGTGCATGGCTGCCTCCCTGGACGTCCATGAAGAGAACATACCTACAGTGATGTCTGCAGGGGAGATGGACAAGTGGAAA GGGATAGAGCCAGGAGAGAAGTGTGCGGACAGAAGCCCAGTGTGCACGACCTTCTCGGATACCTCCAGCAACATAAACTCCATCCTGGAA TTGTTCCCCAAATTATTATGCCTGGATGGCCAGCAGTCACCCAGAGCAACTTTATGTGGTACTGAAGCCCACAAGAGGTTACCAACCTGT AAGGGAAGCTTCTTTGGATCTGAGATGTTGAAGAATCTGGTCCTGCAATTCCTGCAGCAGTATTACTTGATCTATGACTCTGGAGATCGA CAGGGTCTCCTTAGTGCTTACCACGATGAGGCCTGCTTCTCCCTGAGCATTCCCTTCAATCCTGAGGACTCAGCCCCGAGCAGCTTCTGC AAGTTCTTCAAGGATAGCAGGAATATAAAAATTCTCAAGGACCCCTACCTTCGGGGGGAGCTGCTGAAGCACACAAAACTTGATATTGTG GACTCCCTCAGTGCGTTGCCTAAAACTCAGCATGACCTCAGCTCCTTCCTGGTGGACATGTGGTACCAGACGGAATGGATGCTCTGCTTT TCTGTCAACGGGGTGTTCAAGGAAGTGGAAGGACAGTCTCAGGGTTCTGTTCTCGCCTTCACCCGGACCTTCATTGCTACCCCTGGCAGC AGTTCCAGTCTGTGCATCGTGAATGACAAGCTCTTTGTGCGGGATACCAGCCACCAAGGGACCCAGAGTGCCTTGTTCACCCTAGTGCCC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_USP12_ENST00000282344_chr13_27664020_-_NXF3_ENST00000395065_chrX_102339423_-_2630nt CGGAGGCAGCGGCTGCGCCCTGCGCCGGGGCGGAGCCGGGGGCGGGCCGGCGGCCGGCAGGCGGGGGCTGGGGCCCGAGGCCGGGAGTGC CTGAGCGCCGGCGGCGACGACGGCAGCGGCGGCCCAGCGGGCTCGGTGGTTGGGTCCGCGGCGGCTCGGGGTCCGCCCGCGGGCTGCGGT GCGAGCGGGCGGCCCGGCTCCCCTCCTCCCCCGCCCGCCGCCGCCGCTGTGATTGGGTGGAAGATGGCGCTGGCCGGATGGAAATCCTAA TGACAGTCTCCAAATTCGCCTCCATCTGTACCATGGGCGCCAATGCTTCGGCATTAGAGAAAGAGATTGGTCCAGAACAGTTTCCGGTCA ATGAGCACTATTTTGGATTAGTCAATTTTGGGAATACCTGCTACTGCAATTCAGTTCTTCAAGCACTTTATTTTTGTCGTCCATTTCGGG AAAAAGTTCTTGCGTATAAGAGTCAACCTAGGAAAAAGGAGAGCCTTCTTACATGCTTAGCAGATCTCTTCCATAGCATAGCCACTCAGA AGAAAAAGGTTGGAGTAATACCCCCTAAGAAGTTCATCACAAGATTACGGAAAGAAAATGAGCTTTTTGACAACTACATGCAACAAGATG CCCATGAATTCTTAAATTACCTACTAAATACAATTGCTGATATTTTACAAGAAGAGAGAAAGCAGGAAAAACAAAATGGTCGTTTACCTA ATGGTAATATTGATAATGAAAATAATAACAGCACACCAGACCCAACGTGGGTTCATGAGATTTTTCAGGGAACATTAACTAATGAAACCA GATGTCTTACTTGTGAAACTATAAGCAGCAAAGATGAAGATTTTTTAGACCTTTCTGTTGACGTGGAACAAAATACATCAATTACTCACT GCTTAAGGGGTTTCAGCAACACAGAAACTCTGTGCAGTGAATACAAGTATTACTGTGAAGAGTGTCGCAGCAAACAGGAAGCACACAAAC GCACTCCCTATACTATTTCACCCTATAATCGGAAAGGCAGTTTTCGTAAACAAGACCAAACCCACGTTAACATGGAGAGAGAGCAAAAAC CTCCAGAGAGAAGAATGGAGGGGAACATGCCGGATGGGACCTTAGGGAGCTGGTTCAAGATCACAGTTCCCTTTGGCATAAAATACAATG AGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGTTTCACTATGAAAACATGCATGCCAGCTTCT TTGTGGAGAATGCCAGCATCGCCTATGCACTGAAGAATGTCAGTGGCAAGATTTGGGATGAGGATAATGAAAAGATATCAATCTTTGTCA ACCCTGCTGGCATACCCCACTTTGTGCACAGGGAGCTGAAGTCAGAAAAGGTGGAGCAGATAAAGCTGGCCATGAACCAACAGTGTGATG TCTCCCAGGAAGCTCTTGATATCCAGAGACTCCCATTTTACCCAGACATGGTGAACCGTGATACTAAGATGGCATCGAATCCTAGAAAGT GCATGGCTGCCTCCCTGGACGTCCATGAAGAGAACATACCTACAGTGATGTCTGCAGGGGAGATGGACAAGTGGAAAGGGATAGAGCCAG GAGAGAAGTGTGCGGACAGAAGCCCAGTGTGCACGACCTTCTCGGATACCTCCAGCAACATAAACTCCATCCTGGAATTGTTCCCCAAAT TATTATGCCTGGATGGCCAGCAGTCACCCAGAGCAACTTTATGTGGTACTGAAGCCCACAAGAGGTTACCAACCTGTAAGGGAAGCTTCT TTGGATCTGAGATGTTGAAGAATCTGGTCCTGCAATTCCTGCAGCAGTATTACTTGATCTATGACTCTGGAGATCGACAGGGTCTCCTTA GTGCTTACCACGATGAGGCCTGCTTCTCCCTGAGCATTCCCTTCAATCCTGAGGACTCAGCCCCGAGCAGCTTCTGCAAGTTCTTCAAGG ATAGCAGGAATATAAAAATTCTCAAGGACCCCTACCTTCGGGGGGAGCTGCTGAAGCACACAAAACTTGATATTGTGGACTCCCTCAGTG CGTTGCCTAAAACTCAGCATGACCTCAGCTCCTTCCTGGTGGACATGTGGTACCAGACGGAATGGATGCTCTGCTTTTCTGTCAACGGGG TGTTCAAGGAAGTGGAAGGACAGTCTCAGGGTTCTGTTCTCGCCTTCACCCGGACCTTCATTGCTACCCCTGGCAGCAGTTCCAGTCTGT GCATCGTGAATGACAAGCTCTTTGTGCGGGATACCAGCCACCAAGGGACCCAGAGTGCCTTGTTCACCCTAGTGCCCACAGCCTTCTCCA GCTCCGTGCCTGCCTTCTCCCAGGAGCAGCAGAAAATGCTGCCTTCGTAACAACCAGTGTGACTACGTCAGAGCTCCTCATGTTCTTGCA TGGCCCAAGATGTATTTCCCTGTGACTGAACCAGGAGATCTGGCTGGGGCTAAGAAGCCGAAGCCCAACTCACAGGGCTGACTCTCATCC TTCCAAAGGGGCCAGTTGTTCTGTGCACTTGTCCACCCCTGTTACCCCCAGGATCTCTGTTCCTTTTCACAATAAAGTATGGTGTCTTGT |
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FusionGenePPI for USP12_NXF3 |
| 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 |
| USP12 | DHX8, DMWD, MMP2, PAIP1, RAD51AP1, USP39, PHLPP2, PHLPP1, NUP160, SDF4, UCHL5, WDR48, WDR20, USP46, HIST2H2AC, WDR26, WDR77, HIST2H2BE, ITCH, APP, AR, UBC, NOTCH1, VSX2, CBLB, ZAP70, LAT, GRB2, TRAT1, TSPYL6, GORASP1, RNF19B, GPR161, VSX1, HSPB9 | NXF3 | XPO1, NXT1, NXT2, NXF1, SKIL |
| - 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 USP12_NXF3 |
| 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 USP12_NXF3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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