Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:EPC1-SKI (FusionGDB2 ID:HG80314TG6497)

Fusion Gene Summary for EPC1-SKI

check button Fusion gene summary
Fusion gene informationFusion gene name: EPC1-SKI
Fusion gene ID: hg80314tg6497
HgeneTgene
Gene symbol

EPC1

SKI

Gene ID

80314

6497

Gene nameenhancer of polycomb homolog 1SKI proto-oncogene
SynonymsEpl1SGS|SKV
Cytomap('EPC1')('SKI')

10p11.22

1p36.33-p36.32

Type of geneprotein-codingprotein-coding
Descriptionenhancer of polycomb homolog 1ski oncogeneproto-oncogene c-Skiski oncoproteinv-ski avian sarcoma viral oncogene homolog
Modification date2020031320200329
UniProtAcc

Q9H2F5

.
Ensembl transtripts involved in fusion geneENST00000263062, ENST00000319778, 
ENST00000480402, ENST00000375110, 
Fusion gene scores* DoF score17 X 14 X 8=190417 X 5 X 6=510
# samples 2017
** MAII scorelog2(20/1904*10)=-3.25096157353322
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/510*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPC1 [Title/Abstract] AND SKI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPC1(32635691)-SKI(2234417), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneEPC1

GO:0000122

negative regulation of transcription by RNA polymerase II

10976108

HgeneEPC1

GO:0043967

histone H4 acetylation

14966270

HgeneEPC1

GO:0043968

histone H2A acetylation

14966270

HgeneEPC1

GO:0045814

negative regulation of gene expression, epigenetic

10976108

HgeneEPC1

GO:0045892

negative regulation of transcription, DNA-templated

10976108

HgeneEPC1

GO:0045944

positive regulation of transcription by RNA polymerase II

10976108

TgeneSKI

GO:0000122

negative regulation of transcription by RNA polymerase II

17469184

TgeneSKI

GO:0008285

negative regulation of cell proliferation

11430826

TgeneSKI

GO:0014902

myotube differentiation

19008232

TgeneSKI

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

17469184

TgeneSKI

GO:0030514

negative regulation of BMP signaling pathway

14699069

TgeneSKI

GO:0032926

negative regulation of activin receptor signaling pathway

14699069

TgeneSKI

GO:0043388

positive regulation of DNA binding

15107821

TgeneSKI

GO:0045668

negative regulation of osteoblast differentiation

14699069

TgeneSKI

GO:0060395

SMAD protein signal transduction

12874272


check buttonFusion gene breakpoints across EPC1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across SKI (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-A4IY-01AEPC1chr10

32635691

-SKIchr1

2234417

+


Top

Fusion Gene ORF analysis for EPC1-SKI

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
5CDS-3UTRENST00000263062ENST00000478223EPC1chr10

32635691

-SKIchr1

2234417

+
5CDS-3UTRENST00000319778ENST00000478223EPC1chr10

32635691

-SKIchr1

2234417

+
5UTR-3CDSENST00000480402ENST00000378536EPC1chr10

32635691

-SKIchr1

2234417

+
5UTR-3UTRENST00000480402ENST00000478223EPC1chr10

32635691

-SKIchr1

2234417

+
In-frameENST00000263062ENST00000378536EPC1chr10

32635691

-SKIchr1

2234417

+
In-frameENST00000319778ENST00000378536EPC1chr10

32635691

-SKIchr1

2234417

+
intron-3CDSENST00000375110ENST00000378536EPC1chr10

32635691

-SKIchr1

2234417

+
intron-3UTRENST00000375110ENST00000478223EPC1chr10

32635691

-SKIchr1

2234417

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000319778EPC1chr1032635691-ENST00000378536SKIchr12234417+50284563031673456
ENST00000263062EPC1chr1032635691-ENST00000378536SKIchr12234417+49954232701640456

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000319778ENST00000378536EPC1chr1032635691-SKIchr12234417+0.0023224240.9976776
ENST00000263062ENST00000378536EPC1chr1032635691-SKIchr12234417+0.0023082130.99769187

Top

Fusion Genomic Features for EPC1-SKI


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
EPC1chr1032635690-SKIchr12234416+8.08E-091
EPC1chr1032635690-SKIchr12234416+8.08E-091

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for EPC1-SKI


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:32635691/chr1:2234417)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPC1

Q9H2F5

.
FUNCTION: Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. {ECO:0000269|PubMed:14966270}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneSKIchr10:32635691chr1:2234417ENST0000037853607536_710323729.0Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for EPC1-SKI


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>26899_26899_1_EPC1-SKI_EPC1_chr10_32635691_ENST00000263062_SKI_chr1_2234417_ENST00000378536_length(transcript)=4995nt_BP=423nt
GAATGGCTGGGGTTGGCTGAAGAGCGCACAGTGGAGTTTTAATGTCCGCCATGTTGGCCATGGCGTATTGAAGAGAGCGAGCGAGAGAGG
AGCGGAGCGGCACAGCCTCCCACCCTCCCGGCTGGTGTTAGTGCCCGGACGGCGGGCTCTGCGCTCCGCCCCTCAAGTCCCCGGCAGCGG
TTGGCGAGTGGGGACCGAACCCCCGGTTCTCCATGATCCCGCTGGCCGGGGCCGTTTCCCCAGAGCGGAGAGGTATCTGCTGCGCCTGAG
ATGAGTAAACTGTCGTTTCGGGCGCGGGCGCTAGACGCCTCGAAGCCGCTGCCGGTTTTCCGCTGTGAGGATCTGCCCGACCTGCACGAA
TACGCCTCGATAAACAGGGCCGTGCCGCAGATGCCCACCGGAATGGAGAAGGAAGAGGAGTCGGTCTCCTCTGAGCCTCCGGCCTCCATA
AGACCCAAAACAGATGACACCTCTTCCCAGTCCCCCGCGCCTTCCGAAAAGGACAAGCCGTCCAGCTGGCTGCGGACCTTGGCCGGCTCT
TCCAATAAGAGCCTGGGCTGTGTTCACCCTCGCCAGCGCCTCTCTGCTTTCCGACCCTGGTCCCCCGCAGTGTCAGCGAGTGAGAAAGAG
CTCTCCCCACACCTCCCGGCCCTCATCCGAGACAGCTTCTACTCCTACAAGAGCTTTGAGACAGCCGTGGCGCCCAACGTGGCCCTCGCA
CCGCCGGCCCAGCAGAAGGTTGTGAGCAGCCCTCCGTGTGCCGCCGCCGTCTCCCGGGCCCCCGAGCCTCTCGCCACTTGCACCCAGCCT
CGGAAGCGGAAGCTGACTGTGGACACCCCAGGAGCCCCAGAGACGCTGGCGCCCGTGGCTGCCCCAGAGGAGGACAAGGACTCGGAGGCG
GAGGTGGAAGTTGAAAGCAGGGAGGAATTCACCTCCTCCTTGTCCTCGCTCTCTTCCCCGTCCTTTACCTCATCCAGCTCCGCCAAGGAC
CTGGGCTCCCCGGGTGCGCGTGCCCTGCCCTCGGCCGTCCCTGATGCTGCGGCCCCTGCCGACGCCCCCAGTGGGCTGGAGGCGGAGCTG
GAGCACCTGCGGCAGGCACTGGAGGGCGGCCTGGACACCAAGGAAGCCAAAGAGAAGTTCCTGCATGAGGTGGTCAAGATGCGCGTGAAG
CAGGAGGAGAAGCTCAGCGCAGCCCTGCAGGCCAAGCGCAGCCTCCACCAGGAGCTGGAGTTCCTACGCGTGGCCAAGAAGGAGAAGCTG
CGGGAGGCCACGGAGGCCAAGCGTAACCTGCGGAAGGAGATCGAGCGTCTCCGCGCCGAGAACGAGAAGAAGATGAAAGAGGCCAACGAG
TCACGGCTGCGCCTGAAGCGGGAGCTGGAGCAGGCGCGGCAGGCCCGGGTGTGCGACAAGGGCTGCGAGGCGGGCCGCCTGCGCGCCAAG
TACTCGGCCCAGATCGAAGACCTGCAGGTGAAGCTGCAGCACGCGGAGGCGGACCGGGAGCAGCTGCGGGCCGACCTGCTGCGGGAGCGC
GAGGCCCGGGAGCACCTGGAGAAGGTGGTGAAGGAGCTGCAGGAACAGCTGTGGCCGCGGGCCCGCCCCGAGGCTGCGGGCAGCGAGGGC
GCTGCGGAGCTGGAGCCGTAGATTCCGTGCCTGCCGCCGCAGCGCCGCCGACAACGCGGGTGCAGGGGGGCGCGGCTGGGCGGTGCAGCT
CCGCCCGGCTCCGCCCCTGCAGCCCACACAGCACAACGTCTTACCGTGCCTATTACCAAGCGAGTGTTTGTAACCATGTAGTTTTGGAAC
CCACTGCAAAATTTTCTACTGGCCAAGTTCAAGTGAGTAAGCCGCGTCCCCCAACTACAGCTGGAGACGGGGCCAGCTCGGCGGCCTGCT
GGTCCTCTGCTTGCTGGAACATTCTAACATTTACACTTTTGTTATAAGCTATTTAAAACCAGTAAGGAGACTTGAAATTCAGAAAATCAA
CACATTTTTAAATGACTAACTTCTAAAAGCCCCAACACATGACGCCATCTGAAGACCCGCAACGGAGTGGGGGTGGCGGCCGCCCCACCC
TCCCCACCCGGGGAAGCCATCACAGCTCATCTGCCCGCGGCTGCGTGAGGACAGCAGGGGTTTTTCTTCAGAGTCTATTTTTTCAGCGAC
AAGGACCCAGGTCTTCCTGCTGCTGCCAGGGAGAGCAGGGACAGTGCCGCGTGCGAGATGAGCTCGAACACTGCCCGCCTTACTGCCGCC
TACCCCGCCCGCCACGCCGCCGTCGATGCCAGCGCTGTCCCCACGGGTACCAGGAAGTGCAGAGCCGCACAGGAGCTGCCCCGGAGCTGA
GGGGACGGTCTTCGGCTCCTCTGCACCCCGTGATTCTGCCCACGCTCCTCCACCACGAGGCACTGACCTGCGTCGGGTGGTGACCGTGGC
TGGCGGTCACGCCCTCAGCCCCTCCGGGCACACGTGCCGCCTGACCGGGCGACCCTTTTCAGTTCGGCAAACGTCGCTCCCTTCATTTTG
GGACTGAGGCTGCAGCATTGGAACAAAAGAGCATTATTTCAATTTTTCTTTCTTTTTTTTTGTTCGTTCATTTAAACGTATATTTAGAAC
TGCACTTTGTCCACAACCTTCCCTTCTCTTTCTATTCCCCAGTGAACTGAGGTTTTTACCGATTTATAGAGCAGTCAAATCCGAAGTGCT
CGAGTGCTTAGAAACCCCCTCTGGTGCTTGGTTGAACAAGGGAATCACAAGAAAACGAAAATGCAAAAACTGAACTTCGGGGGTCGTTCT
GTGCCTTCCAGCATCTTGTACAGCAAATCCTGACTCGTGTCTTTTTACCCCCAAGATATCTGTCTTCAGTAGCGACTGAATCTGCCACTC
TCAGAATAAGTTCCTTGCATTTATTCCAAATAATCTCGTTTACTCTCACCTGTTTATGCAAATTGTATAAGGTTTCTTATGCCCAAGCTT
GAAAAATGATTTCCCAGTAGACAAGAGGCGGCTACCTATCCTACAGTTACGGTATTTATTTACATAAGAAGATCTTACAGGAGTTCTTTG
CTTGAATCCGTTCTAACACCCGCGGCAGCTGCACGCGCTCACAGAAGGTGGAGGTTACTTGCCCAGGTACAGACGACCTCGGGGCAGTGA
CGAGCAAAGACCAGAGACTGCTGAGCCCTCGCATCTGGGTGGCGGAATTGCCTGCGGGGTTTTGCCCTTGGTTTACTGAGGGGGGTCTTG
GTTGCTGCTGAAGCCCCCCACCCCTTCTAAAGTGCAATGCAAAAGGGACATCATGTATATGCAGCGTTTGTTTGGAATTTTCTTTGCTTT
TGTTTTCTTTGCGGTTGTTCTGTGTGCATGGATTCCACACCTCTGCCGTAGGTAGATCCGTCAGCGGGCATTATTACCGTGTCTTGTAAA
GGGTCGGTTTTGTTATGCAACATGCAGAATGCTGTTTTTAGCCTTGTTTTACCAGAGTTGTTTTTTTTTTCAGTTATTTCTTCAAGGGAA
ACTAAATGATTTAGTTGGAGCAAAGCTTTAAGTGTGTTGGCGTGCTTCTGTGTGGCTGTCCTGTGTCGCCAGGTCGAAGATCACAGTGAG
GTAGAGGCCCTGCCCCATCCCCAGGGCCGCCAGGCTTGCTCCGTTTGCTTTGAGTTTTTAGACCCCAGAGGGAGATGAGCTTTTCCAAGC
TGTGTCTGGGCCAGAGCCTCTCCTTGCCCTTGCTCCATCCCGACGGTCACCGTTGGGTCCACGCCTCCACCGCCCCATCTTGCCCCAAAC
GGAAAGCGCTGTATCTGCAGTGGCAGCCCTTCCCCACTTCGGCTCTGGGAGGGTCCAGCCAGTGTCACCTGGGCCCACCCTTTCCTGCAG
CTGCCAGGCCCGTGCGGTCAGTGGGACCCGGACGTGGGCAGGCGAGCTCGGGACCCTCCCAGGCAGTTCCCACAGCTCTTGCCTCGGCTC
ACCAGGGTCACTTCCACTGTCAGGGGCCTGAGGGGGCAGCTGTGGCTGCAGGGCTGCTCTGGACTGAGGGGTCCCAGGCCCCGAGGGGTG
CACGCCTGGCTCCCCTTGGCACAGGTGCGAGTCCGTTTCTTTTCAGCAGAAGGGGGAAGAGGTGTCCGCTGTGTGGGCTGCTGACTCCTC
TGTGTGTGAGGCCCTTCATCTAAGTGATTGTGTATTCAGTTTAATTCTCATTATATTTCTATACTGAAAGAAGATTTTTAACGAAGGGAA
AAACAACAGCAATAACATTCATATCTCTGGAGCAGCTAACTCATACACGTAATGTCTGCTTTTCGTACAGAACTAGCCAATGTAAAAACA
GTTCACCTGTAAATACTTTTTCCTTTTTCACCGTTGTATTATACATGTATATGCTGGGTCCTTTTTCAGAAACTCTTTTCTTACCTGAGA
GTTGTCTTGTTTTCTGGGCTGTTTTTAACTGAGGAAAAAAAAAATGCTTTCCTGCCGGGGGGCAGGGGAGACGGAGAAACCCATGTGCGT
TTCCCATGTGACCCCCTCCTCCCTGTGGGTCTGAGCCCCGGCCCCCCCCACCTCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACC
CCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGTCCGATCCCCGGCCCCCCCCACCCCCTCCTCCCTGT
GGGTCCGAACCCCGGCCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCTCCCTCAGCCCACCAGGGTCCA
GGGAGATGTTCGTTCTCGCTTTAAGTCAGGAGTCACAAATGACTTTTTTTTTTCAATTAAGGAAAAAGCTCCATCTCTACCTTTAACATC
ACCCAGACCCCCGCCCCTGCCCGTGCCCCACGCTGCTGCTAACGACAGTATGATGCTTACTCTGCTACTCGGAAACTATTTTTATGTAAT

>26899_26899_1_EPC1-SKI_EPC1_chr10_32635691_ENST00000263062_SKI_chr1_2234417_ENST00000378536_length(amino acids)=456AA_BP=51
MSKLSFRARALDASKPLPVFRCEDLPDLHEYASINRAVPQMPTGMEKEEESVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLAGS
SNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVALAPPAQQKVVSSPPCAAAVSRAPEPLATCTQP
RKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEAEL
EHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKEKLREATEAKRNLRKEIERLRAENEKKMKEANE
SRLRLKRELEQARQARVCDKGCEAGRLRAKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEKVVKELQEQLWPRARPEAAGSEG

--------------------------------------------------------------
>26899_26899_2_EPC1-SKI_EPC1_chr10_32635691_ENST00000319778_SKI_chr1_2234417_ENST00000378536_length(transcript)=5028nt_BP=456nt
GCGTGCCCGCGCCGCTGCGCGATGCAGTGTGGGGAATGGCTGGGGTTGGCTGAAGAGCGCACAGTGGAGTTTTAATGTCCGCCATGTTGG
CCATGGCGTATTGAAGAGAGCGAGCGAGAGAGGAGCGGAGCGGCACAGCCTCCCACCCTCCCGGCTGGTGTTAGTGCCCGGACGGCGGGC
TCTGCGCTCCGCCCCTCAAGTCCCCGGCAGCGGTTGGCGAGTGGGGACCGAACCCCCGGTTCTCCATGATCCCGCTGGCCGGGGCCGTTT
CCCCAGAGCGGAGAGGTATCTGCTGCGCCTGAGATGAGTAAACTGTCGTTTCGGGCGCGGGCGCTAGACGCCTCGAAGCCGCTGCCGGTT
TTCCGCTGTGAGGATCTGCCCGACCTGCACGAATACGCCTCGATAAACAGGGCCGTGCCGCAGATGCCCACCGGAATGGAGAAGGAAGAG
GAGTCGGTCTCCTCTGAGCCTCCGGCCTCCATAAGACCCAAAACAGATGACACCTCTTCCCAGTCCCCCGCGCCTTCCGAAAAGGACAAG
CCGTCCAGCTGGCTGCGGACCTTGGCCGGCTCTTCCAATAAGAGCCTGGGCTGTGTTCACCCTCGCCAGCGCCTCTCTGCTTTCCGACCC
TGGTCCCCCGCAGTGTCAGCGAGTGAGAAAGAGCTCTCCCCACACCTCCCGGCCCTCATCCGAGACAGCTTCTACTCCTACAAGAGCTTT
GAGACAGCCGTGGCGCCCAACGTGGCCCTCGCACCGCCGGCCCAGCAGAAGGTTGTGAGCAGCCCTCCGTGTGCCGCCGCCGTCTCCCGG
GCCCCCGAGCCTCTCGCCACTTGCACCCAGCCTCGGAAGCGGAAGCTGACTGTGGACACCCCAGGAGCCCCAGAGACGCTGGCGCCCGTG
GCTGCCCCAGAGGAGGACAAGGACTCGGAGGCGGAGGTGGAAGTTGAAAGCAGGGAGGAATTCACCTCCTCCTTGTCCTCGCTCTCTTCC
CCGTCCTTTACCTCATCCAGCTCCGCCAAGGACCTGGGCTCCCCGGGTGCGCGTGCCCTGCCCTCGGCCGTCCCTGATGCTGCGGCCCCT
GCCGACGCCCCCAGTGGGCTGGAGGCGGAGCTGGAGCACCTGCGGCAGGCACTGGAGGGCGGCCTGGACACCAAGGAAGCCAAAGAGAAG
TTCCTGCATGAGGTGGTCAAGATGCGCGTGAAGCAGGAGGAGAAGCTCAGCGCAGCCCTGCAGGCCAAGCGCAGCCTCCACCAGGAGCTG
GAGTTCCTACGCGTGGCCAAGAAGGAGAAGCTGCGGGAGGCCACGGAGGCCAAGCGTAACCTGCGGAAGGAGATCGAGCGTCTCCGCGCC
GAGAACGAGAAGAAGATGAAAGAGGCCAACGAGTCACGGCTGCGCCTGAAGCGGGAGCTGGAGCAGGCGCGGCAGGCCCGGGTGTGCGAC
AAGGGCTGCGAGGCGGGCCGCCTGCGCGCCAAGTACTCGGCCCAGATCGAAGACCTGCAGGTGAAGCTGCAGCACGCGGAGGCGGACCGG
GAGCAGCTGCGGGCCGACCTGCTGCGGGAGCGCGAGGCCCGGGAGCACCTGGAGAAGGTGGTGAAGGAGCTGCAGGAACAGCTGTGGCCG
CGGGCCCGCCCCGAGGCTGCGGGCAGCGAGGGCGCTGCGGAGCTGGAGCCGTAGATTCCGTGCCTGCCGCCGCAGCGCCGCCGACAACGC
GGGTGCAGGGGGGCGCGGCTGGGCGGTGCAGCTCCGCCCGGCTCCGCCCCTGCAGCCCACACAGCACAACGTCTTACCGTGCCTATTACC
AAGCGAGTGTTTGTAACCATGTAGTTTTGGAACCCACTGCAAAATTTTCTACTGGCCAAGTTCAAGTGAGTAAGCCGCGTCCCCCAACTA
CAGCTGGAGACGGGGCCAGCTCGGCGGCCTGCTGGTCCTCTGCTTGCTGGAACATTCTAACATTTACACTTTTGTTATAAGCTATTTAAA
ACCAGTAAGGAGACTTGAAATTCAGAAAATCAACACATTTTTAAATGACTAACTTCTAAAAGCCCCAACACATGACGCCATCTGAAGACC
CGCAACGGAGTGGGGGTGGCGGCCGCCCCACCCTCCCCACCCGGGGAAGCCATCACAGCTCATCTGCCCGCGGCTGCGTGAGGACAGCAG
GGGTTTTTCTTCAGAGTCTATTTTTTCAGCGACAAGGACCCAGGTCTTCCTGCTGCTGCCAGGGAGAGCAGGGACAGTGCCGCGTGCGAG
ATGAGCTCGAACACTGCCCGCCTTACTGCCGCCTACCCCGCCCGCCACGCCGCCGTCGATGCCAGCGCTGTCCCCACGGGTACCAGGAAG
TGCAGAGCCGCACAGGAGCTGCCCCGGAGCTGAGGGGACGGTCTTCGGCTCCTCTGCACCCCGTGATTCTGCCCACGCTCCTCCACCACG
AGGCACTGACCTGCGTCGGGTGGTGACCGTGGCTGGCGGTCACGCCCTCAGCCCCTCCGGGCACACGTGCCGCCTGACCGGGCGACCCTT
TTCAGTTCGGCAAACGTCGCTCCCTTCATTTTGGGACTGAGGCTGCAGCATTGGAACAAAAGAGCATTATTTCAATTTTTCTTTCTTTTT
TTTTGTTCGTTCATTTAAACGTATATTTAGAACTGCACTTTGTCCACAACCTTCCCTTCTCTTTCTATTCCCCAGTGAACTGAGGTTTTT
ACCGATTTATAGAGCAGTCAAATCCGAAGTGCTCGAGTGCTTAGAAACCCCCTCTGGTGCTTGGTTGAACAAGGGAATCACAAGAAAACG
AAAATGCAAAAACTGAACTTCGGGGGTCGTTCTGTGCCTTCCAGCATCTTGTACAGCAAATCCTGACTCGTGTCTTTTTACCCCCAAGAT
ATCTGTCTTCAGTAGCGACTGAATCTGCCACTCTCAGAATAAGTTCCTTGCATTTATTCCAAATAATCTCGTTTACTCTCACCTGTTTAT
GCAAATTGTATAAGGTTTCTTATGCCCAAGCTTGAAAAATGATTTCCCAGTAGACAAGAGGCGGCTACCTATCCTACAGTTACGGTATTT
ATTTACATAAGAAGATCTTACAGGAGTTCTTTGCTTGAATCCGTTCTAACACCCGCGGCAGCTGCACGCGCTCACAGAAGGTGGAGGTTA
CTTGCCCAGGTACAGACGACCTCGGGGCAGTGACGAGCAAAGACCAGAGACTGCTGAGCCCTCGCATCTGGGTGGCGGAATTGCCTGCGG
GGTTTTGCCCTTGGTTTACTGAGGGGGGTCTTGGTTGCTGCTGAAGCCCCCCACCCCTTCTAAAGTGCAATGCAAAAGGGACATCATGTA
TATGCAGCGTTTGTTTGGAATTTTCTTTGCTTTTGTTTTCTTTGCGGTTGTTCTGTGTGCATGGATTCCACACCTCTGCCGTAGGTAGAT
CCGTCAGCGGGCATTATTACCGTGTCTTGTAAAGGGTCGGTTTTGTTATGCAACATGCAGAATGCTGTTTTTAGCCTTGTTTTACCAGAG
TTGTTTTTTTTTTCAGTTATTTCTTCAAGGGAAACTAAATGATTTAGTTGGAGCAAAGCTTTAAGTGTGTTGGCGTGCTTCTGTGTGGCT
GTCCTGTGTCGCCAGGTCGAAGATCACAGTGAGGTAGAGGCCCTGCCCCATCCCCAGGGCCGCCAGGCTTGCTCCGTTTGCTTTGAGTTT
TTAGACCCCAGAGGGAGATGAGCTTTTCCAAGCTGTGTCTGGGCCAGAGCCTCTCCTTGCCCTTGCTCCATCCCGACGGTCACCGTTGGG
TCCACGCCTCCACCGCCCCATCTTGCCCCAAACGGAAAGCGCTGTATCTGCAGTGGCAGCCCTTCCCCACTTCGGCTCTGGGAGGGTCCA
GCCAGTGTCACCTGGGCCCACCCTTTCCTGCAGCTGCCAGGCCCGTGCGGTCAGTGGGACCCGGACGTGGGCAGGCGAGCTCGGGACCCT
CCCAGGCAGTTCCCACAGCTCTTGCCTCGGCTCACCAGGGTCACTTCCACTGTCAGGGGCCTGAGGGGGCAGCTGTGGCTGCAGGGCTGC
TCTGGACTGAGGGGTCCCAGGCCCCGAGGGGTGCACGCCTGGCTCCCCTTGGCACAGGTGCGAGTCCGTTTCTTTTCAGCAGAAGGGGGA
AGAGGTGTCCGCTGTGTGGGCTGCTGACTCCTCTGTGTGTGAGGCCCTTCATCTAAGTGATTGTGTATTCAGTTTAATTCTCATTATATT
TCTATACTGAAAGAAGATTTTTAACGAAGGGAAAAACAACAGCAATAACATTCATATCTCTGGAGCAGCTAACTCATACACGTAATGTCT
GCTTTTCGTACAGAACTAGCCAATGTAAAAACAGTTCACCTGTAAATACTTTTTCCTTTTTCACCGTTGTATTATACATGTATATGCTGG
GTCCTTTTTCAGAAACTCTTTTCTTACCTGAGAGTTGTCTTGTTTTCTGGGCTGTTTTTAACTGAGGAAAAAAAAAATGCTTTCCTGCCG
GGGGGCAGGGGAGACGGAGAAACCCATGTGCGTTTCCCATGTGACCCCCTCCTCCCTGTGGGTCTGAGCCCCGGCCCCCCCCACCTCCTC
CTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCCCCTCCTCCCTGTGGGTCC
GATCCCCGGCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGC
CCCCCCACCCCTCCCTCAGCCCACCAGGGTCCAGGGAGATGTTCGTTCTCGCTTTAAGTCAGGAGTCACAAATGACTTTTTTTTTTCAAT
TAAGGAAAAAGCTCCATCTCTACCTTTAACATCACCCAGACCCCCGCCCCTGCCCGTGCCCCACGCTGCTGCTAACGACAGTATGATGCT

>26899_26899_2_EPC1-SKI_EPC1_chr10_32635691_ENST00000319778_SKI_chr1_2234417_ENST00000378536_length(amino acids)=456AA_BP=51
MSKLSFRARALDASKPLPVFRCEDLPDLHEYASINRAVPQMPTGMEKEEESVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLAGS
SNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVALAPPAQQKVVSSPPCAAAVSRAPEPLATCTQP
RKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEAEL
EHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKEKLREATEAKRNLRKEIERLRAENEKKMKEANE
SRLRLKRELEQARQARVCDKGCEAGRLRAKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEKVVKELQEQLWPRARPEAAGSEG

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for EPC1-SKI


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


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

Related Drugs for EPC1-SKI


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for EPC1-SKI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1321551Shprintzen-Goldberg syndrome4CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1842870Chromosome 1p36 Deletion Syndrome2ORPHANET
TgeneC0003486Aortic Aneurysm1CTD_human
TgeneC0011999Diastematomyelia1CTD_human
TgeneC0027794Neural Tube Defects1CTD_human
TgeneC0027806Neurenteric Cyst1CTD_human
TgeneC0080218Tethered Cord Syndrome1CTD_human
TgeneC0151491Congenital musculoskeletal anomalies1CTD_human
TgeneC0152234Iniencephaly1CTD_human
TgeneC0152426Craniorachischisis1CTD_human
TgeneC0266453Exencephaly1CTD_human
TgeneC0344479Spinal Cord Myelodysplasia1CTD_human
TgeneC0376634Craniofacial Abnormalities1CTD_human
TgeneC0702169Acrania1CTD_human