|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 25617 |
FusionGeneSummary for OTUB1_GBA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: OTUB1_GBA | Fusion gene ID: 25617 | Hgene | Tgene | Gene symbol | OTUB1 | GBA | Gene ID | 55611 | 2629 |
| Gene name | OTU deubiquitinase, ubiquitin aldehyde binding 1 | glucosylceramidase beta | |
| Synonyms | HSPC263|OTB1|OTU1 | GBA1|GCB|GLUC | |
| Cytomap | 11q13.1 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ubiquitin thioesterase OTUB1OTU domain, ubiquitin aldehyde binding 1OTU domain-containing ubiquitin aldehyde-binding protein 1OTU-domain Ubal-binding 1deubiquitinating enzyme OTUB1otubain-1ubiquitin-specific protease otubain 1ubiquitin-specific-pro | glucosylceramidaseD-glucosyl-N-acylsphingosine glucohydrolaseacid beta-glucosidasealglucerasebeta-GCbeta-glucocerebrosidaseglucosidase, beta, acidglucosylceramidase-like proteinimigluceraselysosomal glucocerebrosidase | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q96FW1 | P04062 | |
| Ensembl transtripts involved in fusion gene | ENST00000541478, ENST00000535715, ENST00000422031, ENST00000428192, ENST00000538426, ENST00000543004, ENST00000536443, ENST00000543988, | ENST00000368373, ENST00000327247, ENST00000427500, ENST00000536770, ENST00000428024, ENST00000493842, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 4 X 3 X 4=48 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: OTUB1 [Title/Abstract] AND GBA [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 | OTUB1 | GO:0006974 | cellular response to DNA damage stimulus | 20725033 |
| Hgene | OTUB1 | GO:0071108 | protein K48-linked deubiquitination | 18954305|19211026|23827681 |
| Hgene | OTUB1 | GO:1901315 | negative regulation of histone H2A K63-linked ubiquitination | 20725033 |
| Tgene | GBA | GO:0032463 | negative regulation of protein homooligomerization | 26392287 |
| Tgene | GBA | GO:0032715 | negative regulation of interleukin-6 production | 19279008 |
| Tgene | GBA | GO:0043243 | positive regulation of protein complex disassembly | 26392287 |
| 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 | HNSC | TCGA-D6-8568-01A | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| * 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 | ENST00000541478 | ENST00000368373 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000541478 | ENST00000327247 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000541478 | ENST00000427500 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000541478 | ENST00000536770 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000541478 | ENST00000428024 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-5UTR | ENST00000541478 | ENST00000493842 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| Frame-shift | ENST00000535715 | ENST00000368373 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| Frame-shift | ENST00000535715 | ENST00000327247 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| Frame-shift | ENST00000535715 | ENST00000427500 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| Frame-shift | ENST00000535715 | ENST00000536770 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| Frame-shift | ENST00000535715 | ENST00000428024 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| 5CDS-5UTR | ENST00000535715 | ENST00000493842 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000422031 | ENST00000368373 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000422031 | ENST00000327247 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000422031 | ENST00000427500 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000422031 | ENST00000536770 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000422031 | ENST00000428024 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-5UTR | ENST00000422031 | ENST00000493842 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000428192 | ENST00000368373 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000428192 | ENST00000327247 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000428192 | ENST00000427500 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000428192 | ENST00000536770 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000428192 | ENST00000428024 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-5UTR | ENST00000428192 | ENST00000493842 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000538426 | ENST00000368373 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000538426 | ENST00000327247 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000538426 | ENST00000427500 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000538426 | ENST00000536770 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000538426 | ENST00000428024 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-5UTR | ENST00000538426 | ENST00000493842 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543004 | ENST00000368373 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543004 | ENST00000327247 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543004 | ENST00000427500 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543004 | ENST00000536770 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543004 | ENST00000428024 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-5UTR | ENST00000543004 | ENST00000493842 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000536443 | ENST00000368373 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000536443 | ENST00000327247 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000536443 | ENST00000427500 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000536443 | ENST00000536770 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000536443 | ENST00000428024 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-5UTR | ENST00000536443 | ENST00000493842 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543988 | ENST00000368373 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543988 | ENST00000327247 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543988 | ENST00000427500 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543988 | ENST00000536770 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-3CDS | ENST00000543988 | ENST00000428024 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
| intron-5UTR | ENST00000543988 | ENST00000493842 | OTUB1 | chr11 | 63768992 | + | GBA | chr1 | 155208441 | - |
Top |
FusionProtFeatures for OTUB1_GBA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| OTUB1 | GBA |
| Hydrolase that can specifically remove 'Lys-48'-linkedconjugated ubiquitin from proteins and plays an importantregulatory role at the level of protein turnover by preventingdegradation. Regulator of T-cell anergy, a phenomenon that occurswhen T-cells are rendered unresponsive to antigen rechallenge andno longer respond to their cognate antigen. Acts via itsinteraction with RNF128/GRAIL, a crucial inductor of CD4 T-cellanergy. Isoform 1 destabilizes RNF128, leading to prevent anergy.In contrast, isoform 2 stabilizes RNF128 and promotes anergy.Surprisingly, it regulates RNF128-mediated ubiquitination, butdoes not deubiquitinate polyubiquitinated RNF128. Deubiquitinatesestrogen receptor alpha (ESR1). Mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains, but not 'Lys-63'-linkedpolyubiquitin chains. Not able to cleave di-ubiquitin. Alsocapable of removing NEDD8 from NEDD8 conjugates, but with a muchlower preference compared to 'Lys-48'-linked ubiquitin. Plays a key non-catalytic role in DNA repair regulationby inhibiting activity of RNF168, an E3 ubiquitin-protein ligasethat promotes accumulation of 'Lys-63'-linked histone H2A and H2AXat DNA damage sites. Inhibits RNF168 independently of ubiquitinthioesterase activity by binding and inhibiting UBE2N/UBC13, theE2 partner of RNF168, thereby limiting spreading of 'Lys-63'-linked histone H2A and H2AX marks. Inhibition occurs by binding tofree ubiquitin: free ubiquitin acts as an allosteric regulatorthat increases affinity for UBE2N/UBC13 and disrupts interactionwith UBE2V1. The OTUB1-UBE2N/UBC13-free ubiquitin complex adopts aconfiguration that mimics a cleaved 'Lys48'-linked di-ubiquitinchain. |
| 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 |
Top |
FusionGeneSequence for OTUB1_GBA |
| 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). |
Top |
FusionGenePPI for OTUB1_GBA |
| 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 |
| OTUB1 | RNF128, USP8, DDX5, GNB2L1, NPM1, EBNA1BP2, EIF4A3, DDX54, DDX23, PCNA, NAT10, DDX24, FUS, MSH2, UBE2D2, UBE2N, STAMBP, CASP14, CPNE7, OTUD6B, STAMBPL1, UBC, RHOA, TRAF3, TRAF6, MAVS, ESR1, TP53, UBE2D1, H2AFX, ANXA1, CDKN1A, TTR, ANXA7, TSC22D1, UBE2S, UBE2V2, RFFL, PJA1, TRIM63, TRIM55, TRIM54, USP21, USP15, USP28, DSTN, ECT2, RNF126, ACTB, SMAD9, BIRC2, BIRC3, TNFSF12, SMAD2, SMAD3, SMAD4, KDM1A, NMRAL1, ERN1, UBE2D3, UBE2D4, RNF2, NEDD8, NFKBIA, CYP1A1, CSNK2A1, ACVR1, BMPR1A, ACVR1B, TGFBR1, BMPR1B, SERBP1, VPS29, NTRK1, EWSR1, FOXM1, AURKA, HIF1AN, MAZ, RCC1, CCNB1, SRPRB, YTHDF2, LUC7L2, NOSIP, NUDC, RPL26L1, MAGED2, STUB1, ZBTB21, SLC25A13, CHORDC1, RCC2, QPCTL, FARSB, TOMM22, OSGEP, MCCC2, UBTD1, CXorf56, ILKAP, C19orf43, DNAJC7, UBE2E2, USMG5, ZC3HAV1L, KCTD12, FAM136A, UBE2W, UBE2E3, CKAP2, C2orf47, SNRNP27, RP9, ABCF1, PNKD, NUP93, ABCF2, SLC27A4, UBL4A, AGK, HSD17B12, IMMT, TCEB1, PCBP1, PPA1, KARS, NOLC1, LAGE3, PIN1, AIMP2, TARDBP, PRDX1, CALD1, SLC25A11, SLC25A3, UBE2L3, UBE2G2, SEC61B, MTPN, CSE1L, SLC16A1, SLC25A1, UBE2E1, SSR4, SRP9, GCLM, BAG6, CRKL, RANBP1, TXLNA, HSPA9, GPX4, ATP5C1, BSG, CBS, HSPA4, PRDX2, DNAJA1, SDHA, PRDX5, ERP29, MPG, MAPK1, CAD, RRM1, TCEA1, SDHB, CTPS1, HSPA6, CBR1, HSPA8, HSPA5, TXN, ASNS, SLC3A2, HSPA1A, UQCRH, SLC25A5, COL1A1, AIFM1, BAG2, TDP2, UTS2, IKBKAP, CTNND1, IDH3B, ASNA1, PHGDH, PFAS, IRS4, NDUFA4, PGRMC1, SLIT3, FLYWCH2, RFX7, PFN2, CSRP2, VDAC3, MAP4, ADSL, EPM2A, ARCN1, PRSS38, SSH3, ZNF746, DUSP13, DUSP8, USP47, FGB, DLD, HSD17B10, IL1RL2 | GBA | NEDD4, HSP90AA1, HSPA4, TCP1, PARK2, CBL, FBXO6, SNCA, ATP6V1B1, ITCH, NUDCD1, PCBP2, NTRK1, ATP5J, CANX, DHCR24, FMR1, HSPD1, RPS6KA3, HSP90B1, CCT3, TOP3B, SCAMP3, INADL, HYOU1, CCT8, ZMYND11, B4GALT7, SKIV2L2, IMP3, BMP2K, ZCCHC8, FGD6, RNF20, JPH1, ZFP91, RAB27B, HCCS, COMT, RAB14, RAB21, POMK, ARL8B, RDH11, ESYT1 |
| - 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 |
Top |
RelatedDrugs for OTUB1_GBA |
| 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 |
| Tgene | GBA | P04062 | DB06720 | Velaglucerase alfa | Glucosylceramidase | biotech | approved|investigational |
Top |
RelatedDiseases for OTUB1_GBA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GBA | C1961835 | Gaucher Disease, Type 1 | 40 | ORPHANET;UNIPROT |
| Tgene | GBA | C0268250 | Gaucher Disease, Type 2 (disorder) | 12 | ORPHANET;UNIPROT |
| Tgene | GBA | C0017205 | Gaucher Disease | 5 | CTD_human |
| Tgene | GBA | C0030567 | Parkinson Disease | 2 | CTD_human |
| Tgene | GBA | C0020542 | Pulmonary Hypertension | 1 | CTD_human;HPO |
| Tgene | GBA | C0242422 | Parkinsonian Disorders | 1 | CTD_human |
| Tgene | GBA | C0268251 | Gaucher Disease, Type 3 (disorder) | 1 | ORPHANET;UNIPROT |
| Tgene | GBA | C0752347 | Lewy Body Disease | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|