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Fusion gene ID: 41167 |
FusionGeneSummary for USP53_MYOZ2 |
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Fusion gene information | Fusion gene name: USP53_MYOZ2 | Fusion gene ID: 41167 | Hgene | Tgene | Gene symbol | USP53 | MYOZ2 | Gene ID | 54532 | 51778 |
Gene name | ubiquitin specific peptidase 53 | myozenin 2 | |
Synonyms | - | C4orf5|CMH16|CS-1|FATZ-2 | |
Cytomap | 4q26 | 4q26 | |
Type of gene | protein-coding | protein-coding | |
Description | inactive ubiquitin carboxyl-terminal hydrolase 53inactive ubiquitin-specific peptidase 53ubiquitin specific protease 53ubiquitin specific proteinase 53 | myozenin-2FATZ-related protein 2calcineurin-binding protein calsarcin-1muscle-specific protein | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q70EK8 | Q9NPC6 | |
Ensembl transtripts involved in fusion gene | ENST00000274030, ENST00000450251, ENST00000510737, | ENST00000307128, | |
Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 3 X 3 X 3=27 |
# samples | 4 | 4 | |
** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: USP53 [Title/Abstract] AND MYOZ2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | OV | TCGA-23-1120-01A | USP53 | chr4 | 120138828 | + | MYOZ2 | chr4 | 120107121 | + |
TCGA | RV | SKCM | TCGA-EE-A2M5-06A | USP53 | chr4 | 120138828 | + | MYOZ2 | chr4 | 120107121 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-3CDS | ENST00000274030 | ENST00000307128 | USP53 | chr4 | 120138828 | + | MYOZ2 | chr4 | 120107121 | + |
intron-3CDS | ENST00000450251 | ENST00000307128 | USP53 | chr4 | 120138828 | + | MYOZ2 | chr4 | 120107121 | + |
3UTR-3CDS | ENST00000510737 | ENST00000307128 | USP53 | chr4 | 120138828 | + | MYOZ2 | chr4 | 120107121 | + |
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FusionProtFeatures for USP53_MYOZ2 |
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Hgene | Tgene |
USP53 | MYOZ2 |
Tight junction-associated protein that is involved inthe survival of auditory hair cells and hearing. Maybe bymodulating the barrier properties and mechanical stability oftight junctions (By similarity). Has no peptidase activity(PubMed:14715245). {ECO:0000250|UniProtKB:P15975,ECO:0000269|PubMed:14715245}. | Myozenins may serve as intracellular binding proteinsinvolved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurinsignaling to the sarcomere. Plays an important role in themodulation of calcineurin signaling. May play a role inmyofibrillogenesis. |
![]() * 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 USP53_MYOZ2 |
![]() (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 USP53_MYOZ2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
USP53 | TRAF2, ANXA2P2, ARG1, AZGP1, BLMH, CAT, CSTA, DSG1, FLNC, HCFC1, PPP2R1B, PSMA6, RPL26, TGM3, RAD50, CASP14, CPNE7, YAE1D1, KRT77, GRB2, DDB2, IREB2, PVRL2, DAB1, ZEB1, TRIM25 | MYOZ2 | EWSR1, ACTN4, TCAP, FLNC, PPP3CA, MYB, ACTN1, ACTN2, RBPMS, DRICH1, ZDHHC17, HSPB2, CRK |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for USP53_MYOZ2 |
![]() (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 USP53_MYOZ2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | MYOZ2 | C3151204 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 | 1 | UNIPROT |