FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 41162

FusionGeneSummary for USP4_BBOX1

check button Fusion gene summary
Fusion gene informationFusion gene name: USP4_BBOX1
Fusion gene ID: 41162
HgeneTgene
Gene symbol

USP4

BBOX1

Gene ID

7375

8424

Gene nameubiquitin specific peptidase 4gamma-butyrobetaine hydroxylase 1
SynonymsUNP|UnphBBH|BBOX|G-BBH|gamma-BBH
Cytomap

3p21.31

11p14.2

Type of geneprotein-codingprotein-coding
Descriptionubiquitin carboxyl-terminal hydrolase 4deubiquitinating enzyme 4ubiquitin carboxyl-terminal esterase 4ubiquitin specific peptidase 4 (proto-oncogene)ubiquitin specific protease 4 (proto-oncogene)ubiquitin thioesterase 4ubiquitin thiolesterase 4ubiqgamma-butyrobetaine dioxygenasebutyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1gamma-butyrobetaine,2-oxoglutarate dioxygenase 1
Modification date2018052220180523
UniProtAcc

Q13107

O75936

Ensembl transtripts involved in fusion geneENST00000351842, ENST00000265560, 
ENST00000488520, ENST00000416417, 
ENST00000415188, 
ENST00000529202, 
ENST00000263182, ENST00000528583, 
ENST00000525090, ENST00000527505, 
Fusion gene scores* DoF score6 X 5 X 5=1504 X 4 X 3=48
# samples 65
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: USP4 [Title/Abstract] AND BBOX1 [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
HgeneUSP4

GO:0016579

protein deubiquitination

16316627|16339847|16472766

HgeneUSP4

GO:0031647

regulation of protein stability

16472766

HgeneUSP4

GO:0034394

protein localization to cell surface

16339847

TgeneBBOX1

GO:0045329

carnitine biosynthetic process

9753662|20599753


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
TCGARVLGGTCGA-HT-A619-01AUSP4chr3

49329943

-BBOX1chr11

27078748

+
* 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
Frame-shiftENST00000351842ENST00000529202USP4chr3

49329943

-BBOX1chr11

27078748

+
Frame-shiftENST00000351842ENST00000263182USP4chr3

49329943

-BBOX1chr11

27078748

+
Frame-shiftENST00000351842ENST00000528583USP4chr3

49329943

-BBOX1chr11

27078748

+
Frame-shiftENST00000351842ENST00000525090USP4chr3

49329943

-BBOX1chr11

27078748

+
5CDS-3UTRENST00000351842ENST00000527505USP4chr3

49329943

-BBOX1chr11

27078748

+
Frame-shiftENST00000265560ENST00000529202USP4chr3

49329943

-BBOX1chr11

27078748

+
Frame-shiftENST00000265560ENST00000263182USP4chr3

49329943

-BBOX1chr11

27078748

+
Frame-shiftENST00000265560ENST00000528583USP4chr3

49329943

-BBOX1chr11

27078748

+
Frame-shiftENST00000265560ENST00000525090USP4chr3

49329943

-BBOX1chr11

27078748

+
5CDS-3UTRENST00000265560ENST00000527505USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000488520ENST00000529202USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000488520ENST00000263182USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000488520ENST00000528583USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000488520ENST00000525090USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3UTRENST00000488520ENST00000527505USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000416417ENST00000529202USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000416417ENST00000263182USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000416417ENST00000528583USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000416417ENST00000525090USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3UTRENST00000416417ENST00000527505USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000415188ENST00000529202USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000415188ENST00000263182USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000415188ENST00000528583USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3CDSENST00000415188ENST00000525090USP4chr3

49329943

-BBOX1chr11

27078748

+
intron-3UTRENST00000415188ENST00000527505USP4chr3

49329943

-BBOX1chr11

27078748

+

Top

FusionProtFeatures for USP4_BBOX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
USP4

Q13107

BBOX1

O75936

Hydrolase that deubiquitinates target proteins such asthe receptor ADORA2A, PDPK1 and TRIM21. Deubiquitination ofADORA2A increases the amount of functional receptor at the cellsurface. May regulate mRNA splicing through deubiquitination ofthe U4 spliceosomal protein PRPF3. This may prevent itsrecognition by the U5 component PRPF8 thereby destabilizinginteractions within the U4/U6.U5 snRNP. May also play a role inthe regulation of quality control in the ER.{ECO:0000269|PubMed:16316627, ECO:0000269|PubMed:16339847,ECO:0000269|PubMed:16472766, ECO:0000269|PubMed:20595234,ECO:0000269|PubMed:7784062}. Catalyzes the formation of L-carnitine from gamma-butyrobetaine.

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


Top

FusionGeneSequence for USP4_BBOX1


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).

Top

FusionGenePPI for USP4_BBOX1


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
USP4TP53BP2, RB1, RBL1, RBL2, TRIM21, ADSL, USP11, USP1, PRPF4, PRPF3, AKAP7, EIF4E2, PPIH, LSM6, LSM4, PRPF31, LSM7, LSM8, DCP1A, MEPCE, LSM2, TUT1, EDC3, USP32, DCP1B, SART3, IGKV2D-29, UBC, USP4, TRAF2, TRAF6, TK1, CDKN1A, SMN1, RCC1, ANXA7, HUWE1, PDK1, MAP3K7, IKBKB, RIPK1, TNFRSF1A, TGFBR1, AKT1, YWHAH, SFN, USP15, USP19, CUL4B, NLK, LGALS1, PSMD11, FAM96B, PSAP, ATP1B3, LAMA5, NPC2, PSMA6, ATP1B1, PLOD1, PPIA, ASS1, PGM1, PSMC5, TRIM63, TRIM55, TRIM54, USP21, USP28, BRAP, DDX58, PTEN, PLA2G2A, PRPF19, PCNA, CT55, OBFC1, TCEAL1, ELMO1, NTRK1, TCF7L2, RORC, HDAC2, RAD50, MRE11A, RBBP8, PTP4A3, CTNNB1, RNPS1, TCP10L, CABP1, JUNB, RNF19B, RAB30, FAM196A, MAP3K6, BSPRY, LGALS7, TRMT1, ENSA, RIPPLY2, ATP6V0D1, EXOC1, C6orf141, SLX1A, FAM46A, SRP9, IRF8, SMAD4BBOX1HSPB3, BBOX1, KIAA1598, RTFDC1, AZI2, TBK1, TXLNA, ITPR3, CASP2, SSFA2, EIF1AX, ITPR2, CALCOCO2, TANK, POLR3F, PCBP3, PARK2, CIAPIN1


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


Top

RelatedDrugs for USP4_BBOX1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneBBOX1O75936DB00126Vitamin CGamma-butyrobetaine dioxygenasesmall moleculeapproved|nutraceutical

Top

RelatedDiseases for USP4_BBOX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBBOX1C0023893Liver Cirrhosis, Experimental1CTD_human