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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 25617

FusionGeneSummary for OTUB1_GBA

check button Fusion gene summary
Fusion gene informationFusion gene name: OTUB1_GBA
Fusion gene ID: 25617
HgeneTgene
Gene symbol

OTUB1

GBA

Gene ID

55611

2629

Gene nameOTU deubiquitinase, ubiquitin aldehyde binding 1glucosylceramidase beta
SynonymsHSPC263|OTB1|OTU1GBA1|GCB|GLUC
Cytomap

11q13.1

1q22

Type of geneprotein-codingprotein-coding
Descriptionubiquitin 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-proglucosylceramidaseD-glucosyl-N-acylsphingosine glucohydrolaseacid beta-glucosidasealglucerasebeta-GCbeta-glucocerebrosidaseglucosidase, beta, acidglucosylceramidase-like proteinimigluceraselysosomal glucocerebrosidase
Modification date2018052320180527
UniProtAcc

Q96FW1

P04062

Ensembl transtripts involved in fusion geneENST00000541478, ENST00000535715, 
ENST00000422031, ENST00000428192, 
ENST00000538426, ENST00000543004, 
ENST00000536443, ENST00000543988, 
ENST00000368373, ENST00000327247, 
ENST00000427500, ENST00000536770, 
ENST00000428024, ENST00000493842, 
Fusion gene scores* DoF score5 X 4 X 4=804 X 3 X 4=48
# samples 54
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneOTUB1

GO:0006974

cellular response to DNA damage stimulus

20725033

HgeneOTUB1

GO:0071108

protein K48-linked deubiquitination

18954305|19211026|23827681

HgeneOTUB1

GO:1901315

negative regulation of histone H2A K63-linked ubiquitination

20725033

TgeneGBA

GO:0032463

negative regulation of protein homooligomerization

26392287

TgeneGBA

GO:0032715

negative regulation of interleukin-6 production

19279008

TgeneGBA

GO:0043243

positive regulation of protein complex disassembly

26392287


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDHNSCTCGA-D6-8568-01AOTUB1chr11

63768992

+GBAchr1

155208441

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000541478ENST00000368373OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000541478ENST00000327247OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000541478ENST00000427500OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000541478ENST00000536770OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000541478ENST00000428024OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-5UTRENST00000541478ENST00000493842OTUB1chr11

63768992

+GBAchr1

155208441

-
Frame-shitENST00000535715ENST00000368373OTUB1chr11

63768992

+GBAchr1

155208441

-
Frame-shitENST00000535715ENST00000327247OTUB1chr11

63768992

+GBAchr1

155208441

-
Frame-shitENST00000535715ENST00000427500OTUB1chr11

63768992

+GBAchr1

155208441

-
Frame-shitENST00000535715ENST00000536770OTUB1chr11

63768992

+GBAchr1

155208441

-
Frame-shitENST00000535715ENST00000428024OTUB1chr11

63768992

+GBAchr1

155208441

-
5CDS-5UTRENST00000535715ENST00000493842OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000422031ENST00000368373OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000422031ENST00000327247OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000422031ENST00000427500OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000422031ENST00000536770OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000422031ENST00000428024OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-5UTRENST00000422031ENST00000493842OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000428192ENST00000368373OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000428192ENST00000327247OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000428192ENST00000427500OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000428192ENST00000536770OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000428192ENST00000428024OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-5UTRENST00000428192ENST00000493842OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000538426ENST00000368373OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000538426ENST00000327247OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000538426ENST00000427500OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000538426ENST00000536770OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000538426ENST00000428024OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-5UTRENST00000538426ENST00000493842OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543004ENST00000368373OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543004ENST00000327247OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543004ENST00000427500OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543004ENST00000536770OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543004ENST00000428024OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-5UTRENST00000543004ENST00000493842OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000536443ENST00000368373OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000536443ENST00000327247OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000536443ENST00000427500OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000536443ENST00000536770OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000536443ENST00000428024OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-5UTRENST00000536443ENST00000493842OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543988ENST00000368373OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543988ENST00000327247OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543988ENST00000427500OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543988ENST00000536770OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-3CDSENST00000543988ENST00000428024OTUB1chr11

63768992

+GBAchr1

155208441

-
intron-5UTRENST00000543988ENST00000493842OTUB1chr11

63768992

+GBAchr1

155208441

-

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FusionProtFeatures for OTUB1_GBA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OTUB1

Q96FW1

GBA

P04062

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for OTUB1_GBA


check button 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 OTUB1_GBA


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
OTUB1RNF128, 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, IL1RL2GBANEDD4, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for OTUB1_GBA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGBAP04062DB06720Velaglucerase alfaGlucosylceramidasebiotechapproved|investigational

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RelatedDiseases for OTUB1_GBA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGBAC1961835Gaucher Disease, Type 140ORPHANET;UNIPROT
TgeneGBAC0268250Gaucher Disease, Type 2 (disorder)12ORPHANET;UNIPROT
TgeneGBAC0017205Gaucher Disease5CTD_human
TgeneGBAC0030567Parkinson Disease2CTD_human
TgeneGBAC0020542Pulmonary Hypertension1CTD_human;HPO
TgeneGBAC0242422Parkinsonian Disorders1CTD_human
TgeneGBAC0268251Gaucher Disease, Type 3 (disorder)1ORPHANET;UNIPROT
TgeneGBAC0752347Lewy Body Disease1CTD_human