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Fusion Protein:ZBTB48-ESPN |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: ZBTB48-ESPN | FusionPDB ID: 100448 | FusionGDB2.0 ID: 100448 | Hgene | Tgene | Gene symbol | ZBTB48 | ESPN | Gene ID | 3104 | 83715 |
Gene name | zinc finger and BTB domain containing 48 | espin | |
Synonyms | HKR3|TZAP|ZNF855|pp9964 | DFNB36|LP2654|USH1M | |
Cytomap | 1p36.31 | 1p36.31 | |
Type of gene | protein-coding | protein-coding | |
Description | telomere zinc finger-associated proteinGLI-Kruppel family member HKR3krueppel-related zinc finger protein 3telomeric zinc finger-associated proteinzinc finger and BTB domain-containing protein 48zinc finger protein 855 | espinautosomal recessive deafness type 36 proteinectoplasmic specialization protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q6ZVH7 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000377674, | ENST00000416731, ENST00000461727, ENST00000475228, ENST00000377828, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 4 X 5 X 3=60 | 5 X 4 X 3=60 |
# samples | 4 | 5 | |
** MAII score | log2(4/60*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: ZBTB48 [Title/Abstract] AND ESPN [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ZBTB48(6647351)-ESPN(6488286), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ZBTB48-ESPN seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ZBTB48-ESPN seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ZBTB48-ESPN seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ZBTB48-ESPN seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | GBM | TCGA-14-0786-01B | ZBTB48 | chr1 | 6647351 | - | ESPN | chr1 | 6488286 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000377674 | ZBTB48 | chr1 | 6647351 | - | ENST00000377828 | ESPN | chr1 | 6488286 | + | 4451 | 1382 | 32 | 3652 | 1206 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000377674 | ENST00000377828 | ZBTB48 | chr1 | 6647351 | - | ESPN | chr1 | 6488286 | + | 0.010428677 | 0.98957133 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >100448_100448_1_ZBTB48-ESPN_ZBTB48_chr1_6647351_ENST00000377674_ESPN_chr1_6488286_ENST00000377828_length(amino acids)=1206AA_BP=450 MWRRRSRGPVGPAQGGPAWELSLAYPRLGWPGCHFCLPALQTMDGSFVQHSVRVLQELNKQREKGQYCDATLDVGGLVFKAHWSVLACCS HFFQSLYGDGSGGSVVLPAGFAEIFGLLLDFFYTGHLALTSGNRDQVLLAARELRVPEAVELCQSFKPKTSVGQAAGGQSGLGPPASQNV NSHVKEPAGLEEEEVSRTLGLVPRDQEPRGSHSPQRPQLHSPAQSEGPSSLCGKLKQALKPCPLEDKKPEDCKVPPRPLEAEGAQLQGGS NEWEVVVQVEDDGDGDYMSEPEAVLTRRKSNVIRKPCAAEPALSAGSLAAEPAENRKGTAVPVECPTCHKKFLSKYYLKVHNRKHTGEKP FECPKCGKCYFRKENLLEHEARNCMNRSEQVFTCSVCQETFRRRMELRVHMVSHTGEMPYKCSSCSQQFMQKKDLQSHMIKLHGAPKPHA DKDNSGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLACQEGHLEVT QYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHD AAENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTTVSVQPLNF DLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGLPRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAP KPPVGPQAADIYMQTKNKLRHVETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHSEEVRARQP ARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTG STKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTP APGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELR -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:6647351/chr1:6488286) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | ESPN |
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing. {ECO:0000250|UniProtKB:Q3UYR4}. |
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- 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 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 26_89 | 408.0 | 689.0 | Domain | BTB |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 291_313 | 408.0 | 689.0 | Zinc finger | C2H2-type 1 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 319_341 | 408.0 | 689.0 | Zinc finger | C2H2-type 2%3B degenerate |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 350_372 | 408.0 | 689.0 | Zinc finger | C2H2-type 3 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 378_401 | 408.0 | 689.0 | Zinc finger | C2H2-type 4 |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 756_830 | 98.0 | 855.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 756_830 | 0.0 | 289.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 756_830 | 0 | 289.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 428_730 | 98.0 | 855.0 | Compositional bias | Note=Pro-rich | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 768_825 | 98.0 | 855.0 | Compositional bias | Note=Glu-rich | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 428_730 | 0.0 | 289.0 | Compositional bias | Note=Pro-rich | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 768_825 | 0.0 | 289.0 | Compositional bias | Note=Glu-rich | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 428_730 | 0 | 289.0 | Compositional bias | Note=Pro-rich | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 768_825 | 0 | 289.0 | Compositional bias | Note=Glu-rich | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 651_668 | 98.0 | 855.0 | Domain | WH2 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 651_668 | 0.0 | 289.0 | Domain | WH2 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 651_668 | 0 | 289.0 | Domain | WH2 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 103_133 | 98.0 | 855.0 | Repeat | Note=ANK 4 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 137_167 | 98.0 | 855.0 | Repeat | Note=ANK 5 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 171_201 | 98.0 | 855.0 | Repeat | Note=ANK 6 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 205_235 | 98.0 | 855.0 | Repeat | Note=ANK 7 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 239_268 | 98.0 | 855.0 | Repeat | Note=ANK 8 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 271_300 | 98.0 | 855.0 | Repeat | Note=ANK 9 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 103_133 | 0.0 | 289.0 | Repeat | Note=ANK 4 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 137_167 | 0.0 | 289.0 | Repeat | Note=ANK 5 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 171_201 | 0.0 | 289.0 | Repeat | Note=ANK 6 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 1_31 | 0.0 | 289.0 | Repeat | Note=ANK 1 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 205_235 | 0.0 | 289.0 | Repeat | Note=ANK 7 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 239_268 | 0.0 | 289.0 | Repeat | Note=ANK 8 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 271_300 | 0.0 | 289.0 | Repeat | Note=ANK 9 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 35_64 | 0.0 | 289.0 | Repeat | Note=ANK 2 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000416731 | 0 | 7 | 69_99 | 0.0 | 289.0 | Repeat | Note=ANK 3 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 103_133 | 0 | 289.0 | Repeat | Note=ANK 4 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 137_167 | 0 | 289.0 | Repeat | Note=ANK 5 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 171_201 | 0 | 289.0 | Repeat | Note=ANK 6 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 1_31 | 0 | 289.0 | Repeat | Note=ANK 1 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 205_235 | 0 | 289.0 | Repeat | Note=ANK 7 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 239_268 | 0 | 289.0 | Repeat | Note=ANK 8 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 271_300 | 0 | 289.0 | Repeat | Note=ANK 9 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 35_64 | 0 | 289.0 | Repeat | Note=ANK 2 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000461727 | 0 | 8 | 69_99 | 0 | 289.0 | Repeat | Note=ANK 3 |
- 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 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 407_430 | 408.0 | 689.0 | Zinc finger | C2H2-type 5 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 436_459 | 408.0 | 689.0 | Zinc finger | C2H2-type 6 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 465_487 | 408.0 | 689.0 | Zinc finger | C2H2-type 7 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 493_515 | 408.0 | 689.0 | Zinc finger | C2H2-type 8 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 521_544 | 408.0 | 689.0 | Zinc finger | C2H2-type 9 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 550_572 | 408.0 | 689.0 | Zinc finger | C2H2-type 10 |
Hgene | ZBTB48 | chr1:6647351 | chr1:6488286 | ENST00000377674 | - | 6 | 11 | 578_600 | 408.0 | 689.0 | Zinc finger | C2H2-type 11 |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 1_31 | 98.0 | 855.0 | Repeat | Note=ANK 1 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 35_64 | 98.0 | 855.0 | Repeat | Note=ANK 2 | |
Tgene | ESPN | chr1:6647351 | chr1:6488286 | ENST00000377828 | 0 | 13 | 69_99 | 98.0 | 855.0 | Repeat | Note=ANK 3 |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
ZBTB48 | |
ESPN |
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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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Related Drugs to ZBTB48-ESPN |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ZBTB48-ESPN |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |