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Fusion gene ID: 29859 |
FusionGeneSummary for R3HDM2_USP15 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: R3HDM2_USP15 | Fusion gene ID: 29859 | Hgene | Tgene | Gene symbol | R3HDM2 | USP15 | Gene ID | 22864 | 9958 |
| Gene name | R3H domain containing 2 | ubiquitin specific peptidase 15 | |
| Synonyms | CAG6|PR01365 | UNPH-2|UNPH4 | |
| Cytomap | 12q13.3 | 12q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | R3H domain-containing protein 2 | ubiquitin carboxyl-terminal hydrolase 15deubiquitinating enzyme 15ubiquitin thioesterase 15ubiquitin thiolesterase 15ubiquitin-specific-processing protease 15 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9Y2K5 | Q9Y4E8 | |
| Ensembl transtripts involved in fusion gene | ENST00000413953, ENST00000347140, ENST00000358907, ENST00000402412, ENST00000441731, ENST00000403821, ENST00000546843, | ENST00000353364, ENST00000280377, ENST00000393654, ENST00000550632, ENST00000312635, | |
| Fusion gene scores | * DoF score | 29 X 12 X 9=3132 | 10 X 8 X 5=400 |
| # samples | 28 | 10 | |
| ** MAII score | log2(28/3132*10)=-3.48358548034607 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/400*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: R3HDM2 [Title/Abstract] AND USP15 [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 | USP15 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 21947082 |
| Tgene | USP15 | GO:0016579 | protein deubiquitination | 16005295|22344298|27368102 |
| Tgene | USP15 | GO:0030509 | BMP signaling pathway | 21947082 |
| Tgene | USP15 | GO:0035520 | monoubiquitinated protein deubiquitination | 21947082 |
| Tgene | USP15 | GO:0035616 | histone H2B conserved C-terminal lysine deubiquitination | 24526689 |
| 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 | SKCM | TCGA-EB-A44Q-06A | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| * 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 |
| intron-3CDS | ENST00000413953 | ENST00000353364 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000413953 | ENST00000280377 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000413953 | ENST00000393654 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3UTR | ENST00000413953 | ENST00000550632 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-intron | ENST00000413953 | ENST00000312635 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-3CDS | ENST00000347140 | ENST00000353364 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-3CDS | ENST00000347140 | ENST00000280377 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-3CDS | ENST00000347140 | ENST00000393654 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-3UTR | ENST00000347140 | ENST00000550632 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-intron | ENST00000347140 | ENST00000312635 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000358907 | ENST00000353364 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000358907 | ENST00000280377 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000358907 | ENST00000393654 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3UTR | ENST00000358907 | ENST00000550632 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-intron | ENST00000358907 | ENST00000312635 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-3CDS | ENST00000402412 | ENST00000353364 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-3CDS | ENST00000402412 | ENST00000280377 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-3CDS | ENST00000402412 | ENST00000393654 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-3UTR | ENST00000402412 | ENST00000550632 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| 5UTR-intron | ENST00000402412 | ENST00000312635 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000441731 | ENST00000353364 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000441731 | ENST00000280377 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000441731 | ENST00000393654 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3UTR | ENST00000441731 | ENST00000550632 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-intron | ENST00000441731 | ENST00000312635 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000403821 | ENST00000353364 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000403821 | ENST00000280377 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000403821 | ENST00000393654 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3UTR | ENST00000403821 | ENST00000550632 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-intron | ENST00000403821 | ENST00000312635 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000546843 | ENST00000353364 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000546843 | ENST00000280377 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3CDS | ENST00000546843 | ENST00000393654 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-3UTR | ENST00000546843 | ENST00000550632 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
| intron-intron | ENST00000546843 | ENST00000312635 | R3HDM2 | chr12 | 57789532 | - | USP15 | chr12 | 62749112 | + |
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FusionProtFeatures for R3HDM2_USP15 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| R3HDM2 | USP15 |
| Hydrolase that removes conjugated ubiquitin from targetproteins and regulates various pathways such as the TGF-betareceptor signaling, NF-kappa-B and RNF41/NRDP1-PRKN pathways(PubMed:21947082, PubMed:22344298, PubMed:24852371,PubMed:16005295, PubMed:17318178, PubMed:19826004,PubMed:19576224). Acts as a key regulator of TGF-beta receptorsignaling pathway, but the precise mechanism is still unclear:according to a report, acts by promoting deubiquitination ofmonoubiquitinated R-SMADs (SMAD1, SMAD2 and/or SMAD3), therebyalleviating inhibition of R-SMADs and promoting activation of TGF-beta target genes (PubMed:21947082). According to another reports,regulates the TGF-beta receptor signaling pathway by mediatingdeubiquitination and stabilization of TGFBR1, leading to anenhanced TGF-beta signal (PubMed:22344298). Able to mediatedeubiquitination of monoubiquitinated substrates as well as 'Lys-48'-linked polyubiquitin chains, protecting them againstproteasomal degradation. May also regulate gene expression and/orDNA repair through the deubiquitination of histone H2B(PubMed:24526689). Acts as an inhibitor of mitophagy bycounteracting the action of parkin (PRKN): hydrolyzes cleavage of'Lys-48'- and 'Lys-63'-linked polyubiquitin chains attached byparkin on target proteins such as MFN2, thereby reducing parkin'sability to drive mitophagy (PubMed:24852371). Acts as anassociated component of COP9 signalosome complex (CSN) andregulates different pathways via this association: regulates NF-kappa-B by mediating deubiquitination of NFKBIA anddeubiquitinates substrates bound to VCP (PubMed:16005295,PubMed:17318178, PubMed:19826004, PubMed:19576224). Involved inendosome organization by mediating deubiquitination of SQSTM1:ubiquitinated SQSTM1 forms a molecular bridge that restrainscognate vesicles in the perinuclear region and itsdeubiquitination releases target vesicles for fast transport intothe cell periphery (PubMed:27368102).{ECO:0000269|PubMed:16005295, ECO:0000269|PubMed:17318178,ECO:0000269|PubMed:19576224, ECO:0000269|PubMed:19826004,ECO:0000269|PubMed:21947082, ECO:0000269|PubMed:22344298,ECO:0000269|PubMed:24526689, ECO:0000269|PubMed:24852371,ECO:0000269|PubMed:27368102}. (Microbial infection) Protects APC and humanpapillomavirus type 16 protein E6 against degradation via theubiquitin proteasome pathway. {ECO:0000269|PubMed:19553310}. |
| 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 R3HDM2_USP15 |
| 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 R3HDM2_USP15 |
| 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 |
| R3HDM2 | ELAVL1, ATXN1, YWHAB, REL, SPRY1, RBPMS, FAM168A, KRTAP3-2, C1orf94, KRTAP10-8, KRTAP10-3, NOTCH2NL, STAT5A | USP15 | CD40, PHB2, UBE2G2, DFFA, ADSL, ALDOA, CALML3, CKB, CSTF1, FABP4, KRT31, KRT33B, KRT34, KRT35, KRT81, KRT85, LGALS7, MYH2, MYH4, PGAM2, PSMD11, SELENBP1, PRPF4, PRPF3, RNF40, PPIH, LSM6, LSM4, PRPF31, LSM8, MEPCE, LSM2, TUT1, LRRC15, VSIG8, SART3, PSMD7, USP11, UBC, TERF2, USP15, SMAD1, SMAD2, SMAD3, SMAD4, UBE2S, TRAF6, FHL1, USP4, SMAD7, SMURF2, TGFBR1, CUL3, CUL4B, COPS5, CAND1, STK33, GRK5, SHC1, TRIM63, TRIM54, USP21, USP20, USP51, USP7, OTUB1, JOSD1, UCHL3, USP8, USP33, SENP8, USP14, STAM, BAP1, YOD1, UCHL1, SENP3, USP28, WAPAL, USP10, ZC3H13, HMG20B, ZMYM2, NOTCH1, BRAP, TRIM21, RBCK1, TRIM17, PHF7, RNF126, TRIM46, TRIM5, RNF144B, TRIM74, SMURF1, FN1, BIRC2, BIRC3, NPM1, SOX2, LMNA, NUSAP1, PLOD2, UGP2, HIST2H2BE, HIST2H2AC, RNF20, TRIM25, TRAF4, SMAD6, BMPR1A, ACVR1, BMPR1B, SHFM1, HUWE1, PLA2G2A, MAD1L1, SPDL1, CARD9, CCDC57, NXF1, ECHS1, BCAT1, EEF2KMT, SNUPN, OBFC1, TRPV5, PSMB9, DDX58, NTRK1, MED4, MKNK2, ID1, SORT1, ATL3, SGTB, TMEM132A, TCEAL4, FERMT3, BAG6, POU5F1, CTNNB1, ANAPC1, AXIN1, BTRC, GLTSCR2, TP53, MDM2, NFE2L1, WWP2, RORC, COPS7A, COPS7B, KEAP1, IRS2, CDH1, UBE2E3, UBE2E2, RNF19B, RHPN1, SPAG9, MCM2, MCM4, MCM6, IVNS1ABP, EPS15L1, GTF3C4, SMC1A, GAPVD1, ANK3, SBNO1, SMC3, CDK11A, SOX4, BCR, PPP4R2, HSF1, KIAA1468, MCM7, PLK1, ATG2B, SMEK1, WEE1, GTF3C2, CYLD, RNF26, YAP1 |
| - 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 R3HDM2_USP15 |
| 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 R3HDM2_USP15 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | R3HDM2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | R3HDM2 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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