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Fusion gene ID: 33184 |
FusionGeneSummary for SENP1_MSRB3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SENP1_MSRB3 | Fusion gene ID: 33184 | Hgene | Tgene | Gene symbol | SENP1 | MSRB3 | Gene ID | 29843 | 253827 |
| Gene name | SUMO specific peptidase 1 | methionine sulfoxide reductase B3 | |
| Synonyms | SuPr-2 | DFNB74 | |
| Cytomap | 12q13.11 | 12q14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sentrin-specific protease 1SUMO1/sentrin specific peptidase 1SUMO1/sentrin specific protease 1sentrin/SUMO-specific protease SENP1 | methionine-R-sulfoxide reductase B3methionine-R-sulfoxide reductase B3, mitochondrial | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9P0U3 | Q8IXL7 | |
| Ensembl transtripts involved in fusion gene | ENST00000339976, ENST00000004980, ENST00000448372, ENST00000551330, ENST00000549518, ENST00000549595, ENST00000547886, | ENST00000355192, ENST00000308259, ENST00000540804, ENST00000535664, ENST00000538725, | |
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 11 X 6 X 6=396 |
| # samples | 6 | 10 | |
| ** MAII score | log2(6/50*10)=0.263034405833794 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/396*10)=-1.98550043030488 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SENP1 [Title/Abstract] AND MSRB3 [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 | MSRB3 | GO:0030091 | protein repair | 14699060 |
| 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 | CK902687 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + | ||
| ChiTaRS3.1 | BU785369 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| * 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 | ENST00000339976 | ENST00000355192 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000339976 | ENST00000308259 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000339976 | ENST00000540804 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000339976 | ENST00000535664 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-3UTR | ENST00000339976 | ENST00000538725 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000004980 | ENST00000355192 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000004980 | ENST00000308259 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000004980 | ENST00000540804 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000004980 | ENST00000535664 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-3UTR | ENST00000004980 | ENST00000538725 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000448372 | ENST00000355192 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000448372 | ENST00000308259 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000448372 | ENST00000540804 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000448372 | ENST00000535664 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-3UTR | ENST00000448372 | ENST00000538725 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000551330 | ENST00000355192 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000551330 | ENST00000308259 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000551330 | ENST00000540804 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000551330 | ENST00000535664 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-3UTR | ENST00000551330 | ENST00000538725 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000549518 | ENST00000355192 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000549518 | ENST00000308259 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000549518 | ENST00000540804 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000549518 | ENST00000535664 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-3UTR | ENST00000549518 | ENST00000538725 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000549595 | ENST00000355192 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000549595 | ENST00000308259 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-intron | ENST00000549595 | ENST00000540804 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-5UTR | ENST00000549595 | ENST00000535664 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| 5CDS-3UTR | ENST00000549595 | ENST00000538725 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| intron-intron | ENST00000547886 | ENST00000355192 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| intron-5UTR | ENST00000547886 | ENST00000308259 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| intron-intron | ENST00000547886 | ENST00000540804 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| intron-5UTR | ENST00000547886 | ENST00000535664 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
| intron-3UTR | ENST00000547886 | ENST00000538725 | SENP1 | chr12 | 48495252 | - | MSRB3 | chr12 | 65702308 | + |
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FusionProtFeatures for SENP1_MSRB3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SENP1 | MSRB3 |
| Protease that catalyzes two essential functions in theSUMO pathway (PubMed:10652325, PubMed:15199155, PubMed:16253240,PubMed:16553580, PubMed:21829689, PubMed:21965678,PubMed:23160374, PubMed:24943844, PubMed:25406032,PubMed:29506078). The first is the hydrolysis of an alpha-linkedpeptide bond at the C-terminal end of the small ubiquitin-likemodifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to themature form of the proteins. The second is the deconjugation ofSUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving anepsilon-linked peptide bond between the C-terminal glycine of themature SUMO and the lysine epsilon-amino group of the targetprotein. Deconjugates SUMO1 from HIPK2 (PubMed:16253240).Deconjugates SUMO1 from HDAC1 and BHLHE40/DEC1, which decreasesits transcriptional repression activity (PubMed:21829689).Deconjugates SUMO1 from CLOCK, which decreases its transcriptionalactivation activity (PubMed:23160374). Deconjugates SUMO2 fromMTA1 (PubMed:21965678). Deconjugates SUMO1 from METTL3(PubMed:29506078). Desumoylates CCAR2 which decreases itsinteraction with SIRT1 (PubMed:25406032). Deconjugates SUMO1 fromGPS2 (PubMed:24943844). {ECO:0000269|PubMed:10652325,ECO:0000269|PubMed:15199155, ECO:0000269|PubMed:16253240,ECO:0000269|PubMed:16553580, ECO:0000269|PubMed:21829689,ECO:0000269|PubMed:21965678, ECO:0000269|PubMed:23160374,ECO:0000269|PubMed:24943844, ECO:0000269|PubMed:25406032,ECO:0000269|PubMed:29506078}. | Catalyzes the reduction of free and protein-boundmethionine sulfoxide to methionine. Isoform 2 is essential forhearing. {ECO:0000269|PubMed:14699060,ECO:0000269|PubMed:21185009}. |
| 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 SENP1_MSRB3 |
| 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 SENP1_MSRB3 |
| 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 |
| SENP1 | SENP1, HDAC4, PARP1, RUVBL2, HDAC1, GCM1, ELAVL1, HDAC2, RANBP2, ISG15, HIPK2, APP, LMNA, BAG3, RANGAP1, SUMO1, SUMO2, PRDM1, USP25, SUMO3, RABGAP1, SP100, TP53, CAV3, UBE2K, PML, SCARA3, ZNF420, ARRB2, NUP43, NUP107, HERC2, APC, KPNB1, NUP153, NACC1, PHF12, ARL11, PROZ, BLK, F9, IL13RA2, LRP1, SKP2, TRMT1, SIRT6 | MSRB3 | GOLGA2, TCF4, TRIP6, PRDM4, MOV10, NXF1, AZIN1, GAPDH, MAPK8IP2, LNX2, KLHL7, RBP4, SPOP, DCUN1D4, C1QL1, BTBD9, STIM2, IFNA21 |
| - 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 SENP1_MSRB3 |
| 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 SENP1_MSRB3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MSRB3 | C1384666 | hearing impairment | 1 | CTD_human |
| Tgene | MSRB3 | C2239351 | DEAFNESS, AUTOSOMAL RECESSIVE 74 | 1 | CTD_human;UNIPROT |
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