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FusionGeneSummary

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FusionGeneSequence

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Fusion gene ID: 42518

FusionGeneSummary for ZBTB48_ESPN

check button Fusion gene summary
Fusion gene informationFusion gene name: ZBTB48_ESPN
Fusion gene ID: 42518
HgeneTgene
Gene symbol

ZBTB48

ESPN

Gene ID

3104

83715

Gene namezinc finger and BTB domain containing 48espin
SynonymsHKR3|TZAP|ZNF855|pp9964DFNB36|LP2654
Cytomap

1p36.31

1p36.31

Type of geneprotein-codingprotein-coding
Descriptiontelomere 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 855espinautosomal recessive deafness type 36 proteinectoplasmic specialization protein
Modification date2018051920180523
UniProtAcc

P10074

B1AK53

Ensembl transtripts involved in fusion geneENST00000377674, ENST00000377828, 
ENST00000461727, ENST00000475228, 
ENST00000416731, 
Fusion gene scores* DoF score3 X 4 X 3=363 X 2 X 2=12
# samples 33
** MAII scorelog2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ZBTB48 [Title/Abstract] AND ESPN [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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

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
TCGARVGBMTCGA-14-0786-01BZBTB48chr1

6647351

+ESPNchr1

6488286

+
* 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
In-frameENST00000377674ENST00000377828ZBTB48chr1

6647351

+ESPNchr1

6488286

+
5CDS-intronENST00000377674ENST00000461727ZBTB48chr1

6647351

+ESPNchr1

6488286

+
5CDS-intronENST00000377674ENST00000475228ZBTB48chr1

6647351

+ESPNchr1

6488286

+
5CDS-intronENST00000377674ENST00000416731ZBTB48chr1

6647351

+ESPNchr1

6488286

+

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FusionProtFeatures for ZBTB48_ESPN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZBTB48

P10074

ESPN

B1AK53

Telomere-binding protein that acts as a regulator oftelomere length (PubMed:28500257, PubMed:28082411). Directly bindsthe telomeric double-stranded 5'-TTAGGG-3' repeat(PubMed:28500257, PubMed:28082411). Preferentially binds totelomeres that have a low concentration of shelterin complex andacts as a regulator of telomere length by initiating telomeretrimming, a process that prevents the accumulation of aberrantlylong telomeres (PubMed:28082411). Also acts as a transcriptionregulator that binds to promoter regions (PubMed:7969177,PubMed:24382891, PubMed:28500257). Regulates expression of a smallsubset of genes, including MTFP1 (PubMed:28500257). Regulatesexpression the J and/or S elements in MHC II promoter(PubMed:7969177). Acts as a negative regulator of cellproliferation by specifically activating expression of ARF, atumor suppressor isoform of CDKN2A (PubMed:24382891).{ECO:0000269|PubMed:24382891, ECO:0000269|PubMed:28082411,ECO:0000269|PubMed:28500257, ECO:0000269|PubMed:7969177}. Multifunctional actin-bundling protein. Plays a majorrole in regulating the organization, dimension, dynamics andsignaling capacities of the actin filament-rich microvilli in themechanosensory and chemosensory cells. Required for the assemblyand stabilization of the stereociliary parallel actin bundles.Plays a crucial role in the formation and maintenance of inner earhair cell stereocilia. Involved in the elongation of actin instereocilia. In extrastriolar hair cells, required for targetingMYO3B to stereocilia tips, and for regulation of stereociliadiameter and staircase formation. {ECO:0000250|UniProtKB:Q9ET47}.

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
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+61126_89408689DomainBTB
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611291_313408689Zinc fingerC2H2-type 1
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611319_341408689Zinc fingerC2H2-type 2%3B degenerate
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611350_372408689Zinc fingerC2H2-type 3
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611378_401408689Zinc fingerC2H2-type 4
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013756_83098855Coiled coilOntology_term=ECO:0000255
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07756_8300289Coiled coilOntology_term=ECO:0000255
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08756_830-73289Coiled coilOntology_term=ECO:0000255
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013428_73098855Compositional biasNote=Pro-rich
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013768_82598855Compositional biasNote=Glu-rich
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07428_7300289Compositional biasNote=Pro-rich
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07768_8250289Compositional biasNote=Glu-rich
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08428_730-73289Compositional biasNote=Pro-rich
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08768_825-73289Compositional biasNote=Glu-rich
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013651_66898855DomainWH2
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07651_6680289DomainWH2
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08651_668-73289DomainWH2
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013103_13398855RepeatNote=ANK 4
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013137_16798855RepeatNote=ANK 5
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013171_20198855RepeatNote=ANK 6
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013205_23598855RepeatNote=ANK 7
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013239_26898855RepeatNote=ANK 8
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+013271_30098855RepeatNote=ANK 9
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07103_1330289RepeatNote=ANK 4
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07137_1670289RepeatNote=ANK 5
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07171_2010289RepeatNote=ANK 6
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+071_310289RepeatNote=ANK 1
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07205_2350289RepeatNote=ANK 7
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07239_2680289RepeatNote=ANK 8
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+07271_3000289RepeatNote=ANK 9
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+0735_640289RepeatNote=ANK 2
TgeneESPNchr1:6647351chr1:6488286ENST00000416731+0769_990289RepeatNote=ANK 3
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08103_133-73289RepeatNote=ANK 4
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08137_167-73289RepeatNote=ANK 5
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08171_201-73289RepeatNote=ANK 6
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+081_31-73289RepeatNote=ANK 1
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08205_235-73289RepeatNote=ANK 7
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08239_268-73289RepeatNote=ANK 8
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+08271_300-73289RepeatNote=ANK 9
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+0835_64-73289RepeatNote=ANK 2
TgeneESPNchr1:6647351chr1:6488286ENST00000461727+0869_99-73289RepeatNote=ANK 3

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611407_430408689Zinc fingerC2H2-type 5
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611436_459408689Zinc fingerC2H2-type 6
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611465_487408689Zinc fingerC2H2-type 7
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611493_515408689Zinc fingerC2H2-type 8
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611521_544408689Zinc fingerC2H2-type 9
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611550_572408689Zinc fingerC2H2-type 10
HgeneZBTB48chr1:6647351chr1:6488286ENST00000377674+611578_600408689Zinc fingerC2H2-type 11
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+0131_3198855RepeatNote=ANK 1
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+01335_6498855RepeatNote=ANK 2
TgeneESPNchr1:6647351chr1:6488286ENST00000377828+01369_9998855RepeatNote=ANK 3


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FusionGeneSequence for ZBTB48_ESPN


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.
>In-frame_ZBTB48_ENST00000377674_chr1_6647351_+_ESPN_ENST00000377828_chr1_6488286_+_1165aa
MDGSFVQHSVRVLQELNKQREKGQYCDATLDVGGLVFKAHWSVLACCSHFFQSLYGDGSGGSVVLPAGFAEIFGLLLDFFYTGHLALTSG
NRDQVLLAARELRVPEAVELCQSFKPKTSVGQAAGGQSGLGPPASQNVNSHVKEPAGLEEEEVSRTLGLVPRDQEPRGSHSPQRPQLHSP
AQSEGPSSLCGKLKQALKPCPLEDKKPEDCKVPPRPLEAEGAQLQGGSNEWEVVVQVEDDGDGDYMSEPEAVLTRRKSNVIRKPCAAEPA
LSAGSLAAEPAENRKGTAVPVECPTCHKKFLSKYYLKVHNRKHTGEKPFECPKCGKCYFRKENLLEHEARNCMNRSEQVFTCSVCQETFR
RRMELRVHMVSHTGEMPYKCSSCSQQFMQKKDLQSHMIKLHGAPKPHADKDNSGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGAL
PIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLACQEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTD
VSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHC
TRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTTVSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSY
MDMLNPELGLPRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHVETEALKKELSSCDGHDGLRR
QDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHSEEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPK
ASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSG
IGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEE


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ZBTB48_ENST00000377674_chr1_6647351_+_ESPN_ENST00000377828_chr1_6488286_+_3495nt
ATGGACGGCTCCTTCGTCCAGCACAGTGTGAGGGTTCTGCAGGAGCTCAACAAGCAGCGGGAGAAGGGCCAGTACTGCGACGCCACTCTG
GACGTGGGGGGCCTGGTGTTTAAGGCACACTGGAGTGTCCTTGCCTGCTGCAGTCACTTTTTCCAGAGCCTCTACGGGGATGGCTCAGGG
GGCAGTGTCGTCCTCCCTGCTGGCTTCGCTGAGATCTTTGGCCTCTTGTTGGACTTTTTCTACACTGGTCACCTCGCTCTCACCTCAGGG
AACCGGGATCAGGTGCTCCTGGCAGCCAGGGAGTTGCGAGTGCCAGAGGCCGTAGAGCTGTGCCAGAGCTTCAAGCCCAAAACTTCAGTG
GGACAGGCAGCAGGTGGCCAGAGTGGGCTGGGGCCCCCTGCCTCCCAGAATGTGAACAGCCACGTCAAGGAGCCGGCAGGCTTGGAAGAA
GAGGAAGTTTCGAGGACTCTGGGTCTAGTCCCCAGGGATCAGGAGCCCAGAGGCAGTCATAGTCCTCAGAGGCCCCAGCTCCATTCCCCA
GCTCAGAGTGAGGGCCCCTCCTCCCTCTGTGGGAAACTGAAGCAGGCCTTGAAGCCTTGTCCCCTTGAGGACAAGAAACCCGAGGACTGC
AAAGTGCCCCCAAGGCCCTTAGAGGCTGAAGGTGCCCAGCTGCAGGGCGGCAGTAATGAGTGGGAAGTGGTGGTTCAAGTGGAGGATGAT
GGGGATGGCGATTACATGTCTGAGCCTGAGGCTGTGCTGACCAGGAGGAAGTCAAATGTAATCCGAAAGCCCTGTGCAGCTGAGCCAGCC
CTGAGCGCGGGCTCCCTAGCAGCTGAGCCTGCTGAGAACAGAAAAGGTACAGCGGTGCCGGTCGAATGCCCCACATGTCATAAAAAGTTC
CTCAGCAAATATTATCTAAAAGTCCACAACAGGAAACATACTGGGGAGAAACCCTTTGAGTGTCCCAAATGTGGGAAGTGTTACTTTCGG
AAGGAGAACCTCCTGGAGCATGAAGCCCGGAATTGCATGAACCGCTCGGAACAGGTCTTCACGTGCTCTGTGTGCCAGGAGACATTCCGC
CGAAGGATGGAGCTGCGGGTGCACATGGTGTCTCACACAGGGGAGATGCCCTACAAGTGTTCCTCCTGCTCCCAGCAGTTCATGCAGAAG
AAGGACTTGCAGAGCCACATGATCAAACTTCATGGAGCCCCCAAGCCCCATGCAGACAAAGACAATTCTGGTGCCACAGTCTTGCATCTG
GCTGCCCGCTTCGGCCACCCCGAGGTGGTGAACTGGCTCTTGCATCATGGCGGTGGGGACCCCACCGCGGCCACAGACATGGGCGCCCTG
CCTATCCACTACGCTGCCGCCAAAGGAGACTTCCCCTCCCTGAGGCTTCTCGTCGAGCACTACCCTGAGGGAGTGAATGCCCAAACCAAG
AACGGTGCCACGCCCCTGTACCTGGCGTGCCAGGAGGGCCACCTGGAGGTGACCCAGTACCTGGTGCAGGAATGCGGCGCAGACCCGCAC
GCGCGCGCCCACGACGGCATGACCCCGCTGCACGCCGCGGCGCAGATGGGCCACAGCCCAGTCATCGTGTGGTTGGTGAGCTGCACCGAC
GTGAGCCTGTCCGAGCAGGACAAAGACGGCGCCACCGCCATGCACTTCGCGGCGAGCCGCGGCCACACCAAGGTGCTCAGCTGGCTGCTG
CTGCACGGCGGGGAGATCTCGGCTGACCTGTGGGGCGGGACCCCGCTGCACGACGCCGCCGAGAACGGGGAGCTAGAGTGCTGCCAGATC
CTGGTAGTGAACGGCGCGGAGCTGGACGTCCGCGACCGCGACGGGTACACGGCCGCCGACCTGTCGGACTTCAACGGCCACAGCCACTGC
ACCCGCTACCTGCGCACGGTGGAGAACCTGAGCGTGGAGCACCGCGTGCTTTCCCGGGATCCATCCGCAGAGCTGGAGGCTAAGCAGCCG
GATTCAGGCATGTCCTCACCCAATACCACGGTGTCGGTCCAGCCGCTGAACTTTGACCTCAGCTCGCCTACCAGCACCCTCTCCAACTAC
GACTCCTGCTCCTCCAGCCACTCCAGCATCAAGGGCCAGCACCCTCCATGTGGGCTTTCCAGCGCTAGAGCTGCAGACATACAGAGCTAC
ATGGACATGCTGAACCCGGAGCTGGGCCTGCCTCGGGGCACGATTGGGAAGCCCACACCCCCACCACCCCCACCCAGCTTCCCCCCGCCA
CCCCCGCCCCCAGGCACCCAACTGCCCCCACCCCCACCTGGCTACCCAGCTCCCAAGCCTCCTGTAGGACCACAGGCAGCTGACATCTAC
ATGCAGACCAAGAACAAACTCCGCCACGTGGAGACAGAGGCCCTCAAGAAGGAGCTGAGCTCCTGTGACGGCCACGACGGGCTGCGGAGG
CAGGACTCCAGCCGCAAGCCCCGCGCCTTCAGCAAGCAGCCCAGCACGGGGGACTACTACCGGCAGCTGGGCCGCTGCCCCGGCGAGACG
CTGGCCGCACGCCCGGGCATGGCGCACAGCGAGGAGGTGCGTGCCCGCCAGCCCGCGCGCGCCGGCTGCCCGCGCCTCGGCCCTGCCGCC
CGCGGCTCACTCGAAGGCCCCTCCGCTCCCCCGCAGGCGGCGCTGCTTCCTGGGAACCATGTTCCTAACGGCTGCGCCGCGGACCCCAAG
GCGTCCAGGGAGCTGCCACCGCCGCCCCCACCGCCGCCGCCGCCCCTGCCGGAGGCCGCGAGTTCGCCACCGCCGGCCCCGCCTCTGCCC
CTCGAGAGCGCTGGCCCTGGCTGCGGGCAGCGCCGCTCCTCCTCGTCCACCGGCAGCACCAAGTCTTTCAACATGATGTCCCCGACGGGC
GACAACTCGGAGCTACTGGCTGAGATTAAGGCAGGCAAGAGCCTGAAGCCGACGCCCCAGAGCAAGGGGCTGACCACAGTGTTCTCAGGC
ATCGGGCAGCCGGCCTTCCAGCCCGATTCGCCGCTGCCTTCTGTGTCACCTGCACTGTCACCAGTCCGGAGCCCCACACCGCCAGCTGCG
GGGTTTCAGCCGCTGCTCAATGGAAGCTTGGTTCCCGTGCCGCCCACTACTCCTGCGCCGGGAGTGCAGCTGGACGTGGAGGCTCTCATC
CCCACGCACGATGAGCAGGGCCGGCCCATCCCCGAGTGGAAGCGCCAGGTGATGGTGCGCAAGATGCAGCTGAAGATGCAGGAGGAGGAG
GAGCAGAGGCGGAAGGAGGAGGAGGAGGAGGCCCGGCTGGCCAGCATGCCCGCCTGGAGGCGGGACCTCCTGCGGAAGAAGCTGGAAGAA
GAGAGGGAGCAGAAGCGGAAAGAGGAGGAGCGACAGAAGCAGGAGGAGCTGCGGCGGGAGAAGGAACAGTCAGAGAAGCTGCGGACGCTG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ZBTB48_ENST00000377674_chr1_6647351_+_ESPN_ENST00000377828_chr1_6488286_+_4451nt
GGGTACGCATAGCCGGGCACTAGGTTCGTGGGCTGTGGAGGCGACGGAGCAGGGGGCCAGTGGGGCCAGCTCAGGGAGGACCTGCCTGGG
AGCTTTCTCTTGCATACCCTCGCTTAGGCTGGCCGGGGTGTCACTTCTGCCTCCCTGCCCTCCAGACCATGGACGGCTCCTTCGTCCAGC
ACAGTGTGAGGGTTCTGCAGGAGCTCAACAAGCAGCGGGAGAAGGGCCAGTACTGCGACGCCACTCTGGACGTGGGGGGCCTGGTGTTTA
AGGCACACTGGAGTGTCCTTGCCTGCTGCAGTCACTTTTTCCAGAGCCTCTACGGGGATGGCTCAGGGGGCAGTGTCGTCCTCCCTGCTG
GCTTCGCTGAGATCTTTGGCCTCTTGTTGGACTTTTTCTACACTGGTCACCTCGCTCTCACCTCAGGGAACCGGGATCAGGTGCTCCTGG
CAGCCAGGGAGTTGCGAGTGCCAGAGGCCGTAGAGCTGTGCCAGAGCTTCAAGCCCAAAACTTCAGTGGGACAGGCAGCAGGTGGCCAGA
GTGGGCTGGGGCCCCCTGCCTCCCAGAATGTGAACAGCCACGTCAAGGAGCCGGCAGGCTTGGAAGAAGAGGAAGTTTCGAGGACTCTGG
GTCTAGTCCCCAGGGATCAGGAGCCCAGAGGCAGTCATAGTCCTCAGAGGCCCCAGCTCCATTCCCCAGCTCAGAGTGAGGGCCCCTCCT
CCCTCTGTGGGAAACTGAAGCAGGCCTTGAAGCCTTGTCCCCTTGAGGACAAGAAACCCGAGGACTGCAAAGTGCCCCCAAGGCCCTTAG
AGGCTGAAGGTGCCCAGCTGCAGGGCGGCAGTAATGAGTGGGAAGTGGTGGTTCAAGTGGAGGATGATGGGGATGGCGATTACATGTCTG
AGCCTGAGGCTGTGCTGACCAGGAGGAAGTCAAATGTAATCCGAAAGCCCTGTGCAGCTGAGCCAGCCCTGAGCGCGGGCTCCCTAGCAG
CTGAGCCTGCTGAGAACAGAAAAGGTACAGCGGTGCCGGTCGAATGCCCCACATGTCATAAAAAGTTCCTCAGCAAATATTATCTAAAAG
TCCACAACAGGAAACATACTGGGGAGAAACCCTTTGAGTGTCCCAAATGTGGGAAGTGTTACTTTCGGAAGGAGAACCTCCTGGAGCATG
AAGCCCGGAATTGCATGAACCGCTCGGAACAGGTCTTCACGTGCTCTGTGTGCCAGGAGACATTCCGCCGAAGGATGGAGCTGCGGGTGC
ACATGGTGTCTCACACAGGGGAGATGCCCTACAAGTGTTCCTCCTGCTCCCAGCAGTTCATGCAGAAGAAGGACTTGCAGAGCCACATGA
TCAAACTTCATGGAGCCCCCAAGCCCCATGCAGACAAAGACAATTCTGGTGCCACAGTCTTGCATCTGGCTGCCCGCTTCGGCCACCCCG
AGGTGGTGAACTGGCTCTTGCATCATGGCGGTGGGGACCCCACCGCGGCCACAGACATGGGCGCCCTGCCTATCCACTACGCTGCCGCCA
AAGGAGACTTCCCCTCCCTGAGGCTTCTCGTCGAGCACTACCCTGAGGGAGTGAATGCCCAAACCAAGAACGGTGCCACGCCCCTGTACC
TGGCGTGCCAGGAGGGCCACCTGGAGGTGACCCAGTACCTGGTGCAGGAATGCGGCGCAGACCCGCACGCGCGCGCCCACGACGGCATGA
CCCCGCTGCACGCCGCGGCGCAGATGGGCCACAGCCCAGTCATCGTGTGGTTGGTGAGCTGCACCGACGTGAGCCTGTCCGAGCAGGACA
AAGACGGCGCCACCGCCATGCACTTCGCGGCGAGCCGCGGCCACACCAAGGTGCTCAGCTGGCTGCTGCTGCACGGCGGGGAGATCTCGG
CTGACCTGTGGGGCGGGACCCCGCTGCACGACGCCGCCGAGAACGGGGAGCTAGAGTGCTGCCAGATCCTGGTAGTGAACGGCGCGGAGC
TGGACGTCCGCGACCGCGACGGGTACACGGCCGCCGACCTGTCGGACTTCAACGGCCACAGCCACTGCACCCGCTACCTGCGCACGGTGG
AGAACCTGAGCGTGGAGCACCGCGTGCTTTCCCGGGATCCATCCGCAGAGCTGGAGGCTAAGCAGCCGGATTCAGGCATGTCCTCACCCA
ATACCACGGTGTCGGTCCAGCCGCTGAACTTTGACCTCAGCTCGCCTACCAGCACCCTCTCCAACTACGACTCCTGCTCCTCCAGCCACT
CCAGCATCAAGGGCCAGCACCCTCCATGTGGGCTTTCCAGCGCTAGAGCTGCAGACATACAGAGCTACATGGACATGCTGAACCCGGAGC
TGGGCCTGCCTCGGGGCACGATTGGGAAGCCCACACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAAC
TGCCCCCACCCCCACCTGGCTACCCAGCTCCCAAGCCTCCTGTAGGACCACAGGCAGCTGACATCTACATGCAGACCAAGAACAAACTCC
GCCACGTGGAGACAGAGGCCCTCAAGAAGGAGCTGAGCTCCTGTGACGGCCACGACGGGCTGCGGAGGCAGGACTCCAGCCGCAAGCCCC
GCGCCTTCAGCAAGCAGCCCAGCACGGGGGACTACTACCGGCAGCTGGGCCGCTGCCCCGGCGAGACGCTGGCCGCACGCCCGGGCATGG
CGCACAGCGAGGAGGTGCGTGCCCGCCAGCCCGCGCGCGCCGGCTGCCCGCGCCTCGGCCCTGCCGCCCGCGGCTCACTCGAAGGCCCCT
CCGCTCCCCCGCAGGCGGCGCTGCTTCCTGGGAACCATGTTCCTAACGGCTGCGCCGCGGACCCCAAGGCGTCCAGGGAGCTGCCACCGC
CGCCCCCACCGCCGCCGCCGCCCCTGCCGGAGGCCGCGAGTTCGCCACCGCCGGCCCCGCCTCTGCCCCTCGAGAGCGCTGGCCCTGGCT
GCGGGCAGCGCCGCTCCTCCTCGTCCACCGGCAGCACCAAGTCTTTCAACATGATGTCCCCGACGGGCGACAACTCGGAGCTACTGGCTG
AGATTAAGGCAGGCAAGAGCCTGAAGCCGACGCCCCAGAGCAAGGGGCTGACCACAGTGTTCTCAGGCATCGGGCAGCCGGCCTTCCAGC
CCGATTCGCCGCTGCCTTCTGTGTCACCTGCACTGTCACCAGTCCGGAGCCCCACACCGCCAGCTGCGGGGTTTCAGCCGCTGCTCAATG
GAAGCTTGGTTCCCGTGCCGCCCACTACTCCTGCGCCGGGAGTGCAGCTGGACGTGGAGGCTCTCATCCCCACGCACGATGAGCAGGGCC
GGCCCATCCCCGAGTGGAAGCGCCAGGTGATGGTGCGCAAGATGCAGCTGAAGATGCAGGAGGAGGAGGAGCAGAGGCGGAAGGAGGAGG
AGGAGGAGGCCCGGCTGGCCAGCATGCCCGCCTGGAGGCGGGACCTCCTGCGGAAGAAGCTGGAAGAAGAGAGGGAGCAGAAGCGGAAAG
AGGAGGAGCGACAGAAGCAGGAGGAGCTGCGGCGGGAGAAGGAACAGTCAGAGAAGCTGCGGACGCTGGGCTACGATGAGAGCAAGCTGG
CGCCCTGGCAGCGACAGGTCATCCTGAAGAAGGGGGACATCGCTAAGTACTAGAGGCCGCAGACTCCTGTCCGCAGCCTCGCAGCTCCGT
GGGGCCCTCCGCCCCAGCCCCAGCCAGCCAGGCCCTGGTGGAAAGGCTGGGAGCCGCACAGCCCTCCCCTCCTGCGCTGGAAACCCTCCC
TGACCCCCACCCTGGCCCCCCGTATCCCCAGCCCTTGGCAACACTGGAGTGCACACGCCGCCACGGTTGCCCAGAAAAAGTGCCCAAGCT
GCTGACGCAAACAACAACAAATGCTGCTTATTTGCATGCCGACTTACATATATTTGCATGTTCGTTGACTATCAAAGAGTGCAGAGCTCT
CCCCAGCCCCGTGGGTGGTGACTTTGTTTTCCTGCGGGGCTCAGCCCCCTCCAGGATGCAGCCCCCTCCCCCGCACCCCGGAACCGGCGT
CGCTGGCGCATCCTGGGTGGAGGCAGGCCCCGAGCTCGGGGAAGGGGTTTTCCCTTCCTCTCTGACCCAGATCTGCGCGCGGCCTAGCCC
GGGCCTCATTTCTTATCCCCGCCAAGGGTTTCCTCTCAGTCATTTGTTTACCAGAAACATGAAAACTGCCTGTCTGGCCGGGCCGCACTT
GTGGCCCCCGGGACCCCACCTCTGGCCCCACCTCCCTCAAGTCTGCGCCCCGTCCCCAGCCAGACCCACTCGCTGCCGGGACCCTTTCAC
TGCCCCGGTGGAGTGAATAGAGGATGAGGGGCCCTGACCCTGTGTCTCCAACTGCTGCACCCCATCCCGACCCTGTCTCCGCCACCTCGC


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FusionGenePPI for ZBTB48_ESPN


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
ZBTB48C7orf34, DVL3, ZBTB8A, NUDT21, ILK, PNRC2, CDKN1A, TNFRSF14, RGS2, CDK2AP2, C11orf58, UPF2, EP300, ZBTB7A, ZBTB48, NME7, GPATCH2L, KRTAP10-5, PTTG1, DVL2, TRIM41, RET, CDC23, NCBP2, FBXO7, ETAA1, HIST1H1C, NSD1, HIST1H1A, ZNF121, ZC3HAV1, MRPS34, RRP7A, MRPS35, FBXO11, APOBEC3C, NOL6, RPL26L1, PTCD3, MRPS5, RPL36AL, HIRA, MRPS31, MRPS18C, ZNF777, LTV1, DAP3, ZBTB24, MRPS11, ZSCAN25, BMS1, DDX24, TPD52, DGCR8, MRPS9, CEBPZ, MRPS2, MRPS33, RBM34, FTSJ3, RPL5, CENPB, RBM28, RPS3A, RPL3, MRPS7, PBRM1, TSR1, DDX54, GZF1, SCAF1, DKC1, SRBD1, GNL2, DHX57, LRP2, GTPBP4, RBM19, ZNF771, NSA2, MRPS24, TEX10, RPF2, MRPS10, UTP23, RPL32, MAK16, RPS15, PPAN-P2RY11, CTCF, RPS3ESPN


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 ZBTB48_ESPN


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

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RelatedDiseases for ZBTB48_ESPN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneESPNC0011053Deafness2CTD_human
TgeneESPNC0042594Vestibular Diseases1CTD_human
TgeneESPNC1837007DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT1CTD_human;UNIPROT