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Fusion gene ID: 41205 |
FusionGeneSummary for USP7_TMEM186 |
Fusion gene summary |
Fusion gene information | Fusion gene name: USP7_TMEM186 | Fusion gene ID: 41205 | Hgene | Tgene | Gene symbol | USP7 | TMEM186 | Gene ID | 7874 | 25880 |
Gene name | ubiquitin specific peptidase 7 | transmembrane protein 186 | |
Synonyms | HAUSP|TEF1 | C16orf51 | |
Cytomap | 16p13.2 | 16p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | ubiquitin carboxyl-terminal hydrolase 7Herpes virus-associated ubiquitin-specific proteasedeubiquitinating enzyme 7ubiquitin specific peptidase 7 (herpes virus-associated)ubiquitin specific protease 7 (herpes virus-associated)ubiquitin thioesterase 7 | transmembrane protein 186 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q93009 | Q96B77 | |
Ensembl transtripts involved in fusion gene | ENST00000344836, ENST00000381886, ENST00000535863, ENST00000566224, | ENST00000564869, ENST00000333050, | |
Fusion gene scores | * DoF score | 2 X 2 X 3=12 | 1 X 1 X 2=2 |
# samples | 3 | 2 | |
** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/2*10)=3.32192809488736 | |
Context | PubMed: USP7 [Title/Abstract] AND TMEM186 [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 |
Hgene | USP7 | GO:0016579 | protein deubiquitination | 16964248|21745816|25172512 |
Hgene | USP7 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 11279055 |
Hgene | USP7 | GO:0035520 | monoubiquitinated protein deubiquitination | 26280536 |
Hgene | USP7 | GO:0050821 | protein stabilization | 25172512 |
Hgene | USP7 | GO:0051090 | regulation of DNA binding transcription factor activity | 16964248 |
Hgene | USP7 | GO:1901537 | positive regulation of DNA demethylation | 25944111 |
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 | LD | BRCA | TCGA-OL-A66I-01A | USP7 | chr16 | 8999044 | - | TMEM186 | chr16 | 8875301 | - |
TCGA | LD | COAD | TCGA-DM-A1D8-01A | USP7 | chr16 | 9057064 | - | TMEM186 | chr16 | 8875301 | - |
* 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-5UTR | ENST00000344836 | ENST00000564869 | USP7 | chr16 | 8999044 | - | TMEM186 | chr16 | 8875301 | - |
5CDS-intron | ENST00000344836 | ENST00000333050 | USP7 | chr16 | 8999044 | - | TMEM186 | chr16 | 8875301 | - |
5CDS-5UTR | ENST00000381886 | ENST00000564869 | USP7 | chr16 | 8999044 | - | TMEM186 | chr16 | 8875301 | - |
5CDS-intron | ENST00000381886 | ENST00000333050 | USP7 | chr16 | 8999044 | - | TMEM186 | chr16 | 8875301 | - |
5CDS-5UTR | ENST00000535863 | ENST00000564869 | USP7 | chr16 | 8999044 | - | TMEM186 | chr16 | 8875301 | - |
5CDS-intron | ENST00000535863 | ENST00000333050 | USP7 | chr16 | 8999044 | - | TMEM186 | chr16 | 8875301 | - |
intron-5UTR | ENST00000566224 | ENST00000564869 | USP7 | chr16 | 8999044 | - | TMEM186 | chr16 | 8875301 | - |
intron-intron | ENST00000566224 | ENST00000333050 | USP7 | chr16 | 8999044 | - | TMEM186 | chr16 | 8875301 | - |
5CDS-5UTR | ENST00000344836 | ENST00000564869 | USP7 | chr16 | 9057064 | - | TMEM186 | chr16 | 8875301 | - |
5CDS-intron | ENST00000344836 | ENST00000333050 | USP7 | chr16 | 9057064 | - | TMEM186 | chr16 | 8875301 | - |
intron-5UTR | ENST00000381886 | ENST00000564869 | USP7 | chr16 | 9057064 | - | TMEM186 | chr16 | 8875301 | - |
intron-intron | ENST00000381886 | ENST00000333050 | USP7 | chr16 | 9057064 | - | TMEM186 | chr16 | 8875301 | - |
intron-5UTR | ENST00000535863 | ENST00000564869 | USP7 | chr16 | 9057064 | - | TMEM186 | chr16 | 8875301 | - |
intron-intron | ENST00000535863 | ENST00000333050 | USP7 | chr16 | 9057064 | - | TMEM186 | chr16 | 8875301 | - |
intron-5UTR | ENST00000566224 | ENST00000564869 | USP7 | chr16 | 9057064 | - | TMEM186 | chr16 | 8875301 | - |
intron-intron | ENST00000566224 | ENST00000333050 | USP7 | chr16 | 9057064 | - | TMEM186 | chr16 | 8875301 | - |
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FusionProtFeatures for USP7_TMEM186 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
USP7 | TMEM186 |
Hydrolase that deubiquitinates target proteins such asFOXO4, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 andDAXX (PubMed:11923872, PubMed:15053880, PubMed:16964248,PubMed:18716620, PubMed:25283148, PubMed:26678539). Together withDAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligaseactivity of MDM2 towards p53/TP53, thereby promoting p53/TP53ubiquitination and proteasomal degradation (PubMed:15053880,PubMed:16845383, PubMed:18566590, PubMed:20153724).Deubiquitinates p53/TP53, preventing degradation of p53/TP53, andenhances p53/TP53-dependent transcription regulation, cell growthrepression and apoptosis (PubMed:25283148). Deubiquitinatesp53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in thepresence of excess MDM2, and also induces p53/TP53-dependent cellgrowth repression and apoptosis (PubMed:11923872).Deubiquitination of FOXO4 in presence of hydrogen peroxide is notdependent on p53/TP53 and inhibits FOXO4-induced transcriptionalactivity (PubMed:16964248). In association with DAXX, is involvedin the deubiquitination and translocation of PTEN from the nucleusto the cytoplasm, both processes that are counteracted by PML(PubMed:18716620). Deubiquitinates KMT2E/MLL5 preventingKMT2E/MLL5 proteasomal-mediated degradation (PubMed:26678539).Involved in cell proliferation during early embryonic development.Involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage: recruited to DNA damage sitesfollowing interaction with KIAA1530/UVSSA and promotesdeubiquitination of ERCC6, preventing UV-induced degradation ofERCC6 (PubMed:22466611, PubMed:22466612). Involved in maintenanceof DNA methylation via its interaction with UHRF1 and DNMT1: actsby mediating deubiquitination of UHRF1 and DNMT1, preventing theirdegradation and promoting DNA methylation by DNMT1(PubMed:21745816, PubMed:22411829). Deubiquitinates alkylationrepair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilizeALKBH3, thereby promoting the repair of alkylated DNA lesions(PubMed:25944111). Acts as a chromatin regulator via itsassociation with the Polycomb group (PcG) multiprotein PRC1-likecomplex; may act by deubiquitinating components of the PRC1-likecomplex (PubMed:20601937). Able to mediate deubiquitination ofhistone H2B; it is however unsure whether this activity takesplace in vivo (PubMed:20601937). Exhibits a preference towards'Lys-48'-linked ubiquitin chains (PubMed:22689415). Increasesregulatory T-cells (Treg) suppressive capacity by deubiquitinatingand stabilizing the transcription factor FOXP3 which is crucialfor Treg cell function (PubMed:23973222).{ECO:0000269|PubMed:11923872, ECO:0000269|PubMed:15053880,ECO:0000269|PubMed:16845383, ECO:0000269|PubMed:16964248,ECO:0000269|PubMed:18566590, ECO:0000269|PubMed:18716620,ECO:0000269|PubMed:20153724, ECO:0000269|PubMed:20601937,ECO:0000269|PubMed:21745816, ECO:0000269|PubMed:22411829,ECO:0000269|PubMed:22466611, ECO:0000269|PubMed:22466612,ECO:0000269|PubMed:22689415, ECO:0000269|PubMed:23973222,ECO:0000269|PubMed:25283148, ECO:0000269|PubMed:25944111,ECO:0000269|PubMed:26678539}. (Microbial infection) Contributes to the overallstabilization and trans-activation capability of the herpesvirus 1trans-acting transcriptional protein ICP0/VMW110 during HSV-1infection. {ECO:0000269|PubMed:14506283,ECO:0000269|PubMed:16160161, ECO:0000269|PubMed:18590780}. |
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 USP7_TMEM186 |
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 USP7_TMEM186 |
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 |
USP7 | ATXN1, MAGEB2, RUVBL2, RNPS1, TP53, TRAF1, TRAF2, TRAF3, TRAF4, TRAF5, TRAF6, CLSPN, MDM2, PDCD6IP, GMPS, HIST3H2BB, CRKL, DNMT1, EIF4B, GTF2I, MCM4, MCM5, MCM6, NUP98, PPM1G, HLTF, SRP68, ZNF207, USP11, TCEAL1, TCEAL4, CCDC6, AKAP1, RAE1, USP14, BUB3, TRIP12, BRE, HUWE1, SCML2, USP19, KIF3A, FAM175B, DCAF4, BABAM1, RNF220, YLPM1, BRCC3, MCMBP, FBXO38, PPIL4, DOCK7, CHFR, FOXO4, FOXO3, ATG10, KLHDC10, SH3GLB1, PCGF2, BMI1, RING1, RNF2, CBX8, EZH2, SUZ12, EED, MDM4, UHRF1, DNMT3A, TSPYL5, FOXN2, CHEK1, DAXX, HDAC5, KAT5, MARK4, IKBKG, UBC, UBE2S, SMARCAD1, USP7, UVSSA, SIRT7, PCGF1, PCGF3, RYBP, YAF2, PSMA2, PSMA5, PSMA3, PSMB6, PSMB5, PSMB8, PSMB4, PML, MEX3C, CUL3, CUL4A, CUL4B, CDK2, COPS5, ERCC6, TBCB, TRIM22, WWP2, ACD, ARNT2, PLEKHO1, CREB3L3, DNAJA3, EWSR1, RADIL, BEND5, HECW1, HERPUD1, KLHL8, MAGEE1, MARCH7, PEG3, PICK1, ZMYND8, HTRA2, SYVN1, TMPO, TRO, ZNF423, BCOR, NECAB2, PPL, SMAD3, RFFL, PJA1, TRIM63, TRIM55, TRIM54, USP21, USP15, USP28, UQCRFS1, VAMP2, TXNL1, XPOT, ZCCHC8, WDR74, XRCC4, NR1H2, THTPA, HNRNPH1, VPS53, PRR12, UBAC1, UQCRFS1P1, NOTCH1, RELA, RARA, TRIM27, RBCK1, TRIM31, TRIM8, UHRF2, MAGEL2, VPS29, UBE2E1, BIRC2, BIRC3, SOX2, HDAC6, RNF11, MYD88, MAL, PHLDB2, PPARG, PTEN, CLK3, CDC37, COPS6, FKBP5, MAGED2, MMS19, PPP6C, PPP6R3, TRAP1, OGFR, ABL1, RPA3, RPA2, RPA1, RB1, SHFM1, XPC, PEPD, TPP1, PLA2G2A, MBD4, ZEB1, BRCA1, SVIL, ING1, UBA52, SIRT6, ABCE1, ARL6IP4, GAS2L1, RBM11, FAM170A, RBPJ, PHF7, ZBTB44, TRRAP, DARS, CEP112, SF3B3, TMEM87A, LMNA, GIN1, MYNN, CWC22, TNIP2, ZFP2, ZNF394, ZNF594, FBF1, ZC3H11A, MTCH1, CACNA2D1, DDX4, PITPNB, SP110, DICER1, F7, KLC1, GOLGB1, KRT1, UTRN, MYO3A, MYH9, MACF1, DBN1, DYNC1H1, ZNF169, RPS6KB2, POLH, HNRNPF, SNRPD1, DHX9, HSPH1, IQGAP1, PHGDH, PPP1R7, THOC2, NTRK1, IFI16, HIST2H2AC, HIST2H2BE, BCL6, BLMH, ETV6, STIL, TCF20, TMF1, KPNA1, KIF23, PKP4, YBX3, WDR1, FASTKD2, ZNF609, ATP6V1D, BCORL1, DHX40, ACTL8, KIAA2013, RNF169, AR, GLI1, GLI2, GLI3, NCL, PKM, PPP2CA, ANXA1, RAD18, CRY1, CRY2, OTUD4, ALKBH3, RNF168, UBE2D3, TFIP11, KMT2E, OGT, RNF126, NANOG, POU5F1, SUMO2, SNCA, MYC, UBB, PHF8, IRS2, SNAI1, STYX, POTEB3, POTEC, TULP3, ERCC3, LCOR, KHDRBS2, NKAP, PCGF6, CEP83, TSEN15, TCF25, ARHGEF6, UBE2E3, PAK7, NUAK2, IFT43, MEAF6, RSBN1, TRIM35, PLEKHG5, APC, AXIN1, CTNNB1, TRIM25, SUV39H1, IFNAR1 | TMEM186 | ZDHHC17, TM4SF20, TSPAN5, TMEM171, SLC39A4, ZDHHC7, ERGIC3, LPAR1, HTR3C, ECSIT, MPPE1, POTEE, IPPK, SPPL2B, SLC24A5, FADS3, SYP, VIPR2, HEATR3, SDC2, SLC7A1, TUBGCP5, RANBP6, HTR3A |
- 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 USP7_TMEM186 |
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 USP7_TMEM186 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | USP7 | C0005695 | Bladder Neoplasm | 1 | CTD_human |