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Fusion gene ID: 41162 |
FusionGeneSummary for USP4_BBOX1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: USP4_BBOX1 | Fusion gene ID: 41162 | Hgene | Tgene | Gene symbol | USP4 | BBOX1 | Gene ID | 7375 | 8424 |
Gene name | ubiquitin specific peptidase 4 | gamma-butyrobetaine hydroxylase 1 | |
Synonyms | UNP|Unph | BBH|BBOX|G-BBH|gamma-BBH | |
Cytomap | 3p21.31 | 11p14.2 | |
Type of gene | protein-coding | protein-coding | |
Description | ubiquitin 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 4ubiq | gamma-butyrobetaine dioxygenasebutyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q13107 | O75936 | |
Ensembl transtripts involved in fusion gene | ENST00000351842, ENST00000265560, ENST00000488520, ENST00000416417, ENST00000415188, | ENST00000529202, ENST00000263182, ENST00000528583, ENST00000525090, ENST00000527505, | |
Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 4 X 4 X 3=48 |
# samples | 6 | 5 | |
** MAII score | log2(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) |
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 | USP4 | GO:0016579 | protein deubiquitination | 16316627|16339847|16472766 |
Hgene | USP4 | GO:0031647 | regulation of protein stability | 16472766 |
Hgene | USP4 | GO:0034394 | protein localization to cell surface | 16339847 |
Tgene | BBOX1 | GO:0045329 | carnitine biosynthetic process | 9753662|20599753 |
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 | LGG | TCGA-HT-A619-01A | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
* 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 |
Frame-shift | ENST00000351842 | ENST00000529202 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
Frame-shift | ENST00000351842 | ENST00000263182 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
Frame-shift | ENST00000351842 | ENST00000528583 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
Frame-shift | ENST00000351842 | ENST00000525090 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
5CDS-3UTR | ENST00000351842 | ENST00000527505 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
Frame-shift | ENST00000265560 | ENST00000529202 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
Frame-shift | ENST00000265560 | ENST00000263182 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
Frame-shift | ENST00000265560 | ENST00000528583 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
Frame-shift | ENST00000265560 | ENST00000525090 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
5CDS-3UTR | ENST00000265560 | ENST00000527505 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000488520 | ENST00000529202 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000488520 | ENST00000263182 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000488520 | ENST00000528583 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000488520 | ENST00000525090 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3UTR | ENST00000488520 | ENST00000527505 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000416417 | ENST00000529202 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000416417 | ENST00000263182 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000416417 | ENST00000528583 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000416417 | ENST00000525090 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3UTR | ENST00000416417 | ENST00000527505 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000415188 | ENST00000529202 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000415188 | ENST00000263182 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000415188 | ENST00000528583 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3CDS | ENST00000415188 | ENST00000525090 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
intron-3UTR | ENST00000415188 | ENST00000527505 | USP4 | chr3 | 49329943 | - | BBOX1 | chr11 | 27078748 | + |
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FusionProtFeatures for USP4_BBOX1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
USP4 | BBOX1 |
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. |
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 USP4_BBOX1 |
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 USP4_BBOX1 |
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 |
USP4 | TP53BP2, 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, SMAD4 | BBOX1 | HSPB3, BBOX1, KIAA1598, RTFDC1, AZI2, TBK1, TXLNA, ITPR3, CASP2, SSFA2, EIF1AX, ITPR2, CALCOCO2, TANK, POLR3F, PCBP3, PARK2, CIAPIN1 |
- 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 USP4_BBOX1 |
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 | BBOX1 | O75936 | DB00126 | Vitamin C | Gamma-butyrobetaine dioxygenase | small molecule | approved|nutraceutical |
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RelatedDiseases for USP4_BBOX1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | BBOX1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |