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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:EPT1-CCNI (FusionGDB2 ID:HG85465TG10983)

Fusion Gene Summary for EPT1-CCNI

check button Fusion gene summary
Fusion gene informationFusion gene name: EPT1-CCNI
Fusion gene ID: hg85465tg10983
HgeneTgene
Gene symbol

EPT1

CCNI

Gene ID

85465

10983

Gene nameselenoprotein Icyclin I
SynonymsEPT1|SELI|SEPI|SPG81CCNI1|CYC1|CYI
Cytomap('EPT1')('CCNI')

2p23.3

4q21.1

Type of geneprotein-codingprotein-coding
Descriptionethanolaminephosphotransferase 1ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)hEPT1cyclin-Icyclin ITI
Modification date2020031320200327
UniProtAcc.

Q14094

Ensembl transtripts involved in fusion geneENST00000260585, ENST00000462301, 
Fusion gene scores* DoF score3 X 3 X 3=2717 X 12 X 5=1020
# samples 319
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(19/1020*10)=-2.42449782852791
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPT1 [Title/Abstract] AND CCNI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPT1(26596497)-CCNI(77976533), # 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
HgeneEPT1

GO:0006646

phosphatidylethanolamine biosynthetic process

17132865


check buttonFusion gene breakpoints across EPT1 (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 CCNI (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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-CG-5717-01AEPT1chr2

26596497

+CCNIchr4

77976533

-


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Fusion Gene ORF analysis for EPT1-CCNI

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-intronENST00000260585ENST00000504697EPT1chr2

26596497

+CCNIchr4

77976533

-
In-frameENST00000260585ENST00000237654EPT1chr2

26596497

+CCNIchr4

77976533

-
In-frameENST00000260585ENST00000537948EPT1chr2

26596497

+CCNIchr4

77976533

-
intron-3CDSENST00000462301ENST00000237654EPT1chr2

26596497

+CCNIchr4

77976533

-
intron-3CDSENST00000462301ENST00000537948EPT1chr2

26596497

+CCNIchr4

77976533

-
intron-intronENST00000462301ENST00000504697EPT1chr2

26596497

+CCNIchr4

77976533

-

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)
ENST00000260585EPT1chr226596497+ENST00000237654CCNIchr477976533-24286921191366415
ENST00000260585EPT1chr226596497+ENST00000537948CCNIchr477976533-14516921191366415

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
ENST00000260585ENST00000237654EPT1chr226596497+CCNIchr477976533-0.0010590770.9989409
ENST00000260585ENST00000537948EPT1chr226596497+CCNIchr477976533-0.0039368040.9960632

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Fusion Genomic Features for EPT1-CCNI


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)

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

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Fusion Protein Features for EPT1-CCNI


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/chr2:26596497/chr4:77976533)
- 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
.CCNI

Q14094

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
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+510123_145191398.0TransmembraneHelical
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+510150_172191398.0TransmembraneHelical
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+51047_69191398.0TransmembraneHelical
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+51084_103191398.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+510179_201191398.0TransmembraneHelical
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+510221_243191398.0TransmembraneHelical
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+510256_278191398.0TransmembraneHelical
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+510291_310191398.0TransmembraneHelical
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+510317_339191398.0TransmembraneHelical
HgeneEPT1chr2:26596497chr4:77976533ENST00000260585+510344_366191398.0TransmembraneHelical


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Fusion Gene Sequence for EPT1-CCNI


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.
>27121_27121_1_EPT1-CCNI_EPT1_chr2_26596497_ENST00000260585_CCNI_chr4_77976533_ENST00000237654_length(transcript)=2428nt_BP=692nt
CTCCTACCTTCTCGGGCAGCCCAGTCTTTGCCATCCTTGCCCAGCCGGTGTGGTGCTTGTGTGTCACAGCCTTGTAGCCGGGAGTCGCTG
CCGAGTGGGCGCTCAGTTTTCGGGTCGTCATGGCTGGCTACGAATACGTGAGCCCGGAGCAGCTGGCTGGCTTTGATAAGTACAAGTACA
GTGCTGTGGATACCAATCCACTTTCTCTGTATGTCATGCATCCATTCTGGAACACTATAGTAAAGGTATTTCCTACTTGGCTGGCGCCCA
ATCTGATAACTTTTTCTGGCTTTCTGCTGGTCGTATTCAATTTTCTGCTAATGGCATACTTTGATCCTGACTTTTATGCCTCAGCACCAG
GTCACAAGCACGTGCCTGACTGGGTTTGGATTGTAGTGGGCATCCTCAACTTCGTAGCCTACACTCTAGATGGTGTGGACGGAAAGCAAG
CTCGCAGAACCAATTCTAGCACTCCCTTAGGGGAGCTTTTTGATCATGGCCTGGATAGTTGGTCATGTGTTTACTTTGTTGTGACTGTTT
ATTCCATCTTTGGAAGAGGATCAACTGGTGTCAGTGTTTTTGTTCTTTATCTCCTGCTATGGGTAGTTTTGTTTTCTTTCATCCTGTCCC
ACTGGGAAAAGTATAACACAGGGATTCTTTTCCTGCCATGGGGATATGACATTAGCCAGGTGTTCCATGCCATTGCAGTGTCAACTAGGC
CTCAGTTACTTTTCAGTTTGCCCAAATTGAGCCCATCTCAACATTTGGCAGTCCTTACCAAGCAACTACTTCACTGTATGGCCTGCAACC
AACTTCTGCAATTCAGAGGATCCATGCTTGCTCTGGCCATGGTTAGTCTGGAAATGGAGAAACTCATTCCTGATTGGCTTTCTCTTACAA
TTGAACTGCTTCAGAAAGCACAGATGGATAGCTCCCAGTTGATCCATTGTCGGGAGCTTGTGGCACATCACCTTTCTACTCTGCAGTCTT
CCCTGCCTCTGAATTCCGTTTATGTCTACCGTCCCCTCAAGCACACCCTGGTGACCTGTGACAAAGGAGTGTTCAGATTACATCCCTCCT
CTGTCCCAGGCCCAGACTTCTCCAAGGACAACAGCAAGCCAGAAGTGCCAGTCAGAGGTACAGCAGCCTTTTACCATCATCTCCCAGCTG
CCAGTGGGTGCAAGCAGACCTCTACTAAACGCAAAGTAGAGGAAATGGAAGTGGATGACTTCTATGATGGAATCAAACGGCTCTATAATG
AAGATAATGTCTCAGAAAATGTGGGTTCTGTGTGTGGCACTGATTTATCAAGACAAGAGGGACATGCTTCCCCTTGTCCACCTTTGCAGC
CTGTTTCTGTCATGTAGTTTCAACAAGTGCTACCTTTGAGTGTAAACTAAGGTAGACTACTTTGGGAATGAGAACATGCAAAATCAGGAA
AGGCTGTAGAAGGAAATATACCTTAACAGGCTGATTTGGAGTGAGCCAGAAAAAAAAAATAAAACTCTCATTATTTGTGTGGCTAATTAT
AATTCAGCGTTATTTAAGCACATAAAGACCAAAAAAAAAAAAAAGAAATCCAAAAGATCCAAACTTTTTTTAAACTTAAAAAATCTCTTT
GTAGTATGTCAGTTGCACTTTTTTTCTGCCATAATGTAACGTAGCTTGCCCCGTCAAAAATTCAATTAAAATTCATGGCCAGCAATCCTG
TTCCCCCTCAGCATCCTGATTTAATTTTCCTGTTGCTTTTGCTTGCTTCTCCATTTAATAGTTACTGAACTTTATGCATGTTGATCTATA
TTGATTTTCACTGCAGTTGAATGAACAAATTATTTCAGTGTGACAGCCATGACTCAAGTTCCAATTAGTCTGAAAAGGGTACTTTGGAAT
TGTCCCATATTAATCAGAGATGGCAAAAGAAAAAGTTCTCATATTACCAGGTTGATTTTGTGTCTCATTTCAAATTTTAATTTAAAATTA
TGGTTTTCATTTTTGTTTACCTTAAAGTGATGCTTAAAAGTGGCATGTAATTAGGACACTTAGGTTTGTTGAAAGCATTTTCGACATTTG
TATAAAAGAATTTGTGATAAATATATCCAGGTGCTCACCAAAGAAACATGTATTAACAACTTAAATTAGATTTTTCTAACTGATAGTTTT
CACTCATTTATAATCAGTAGGAGAGACTGTCTAGATGTTGGGGCAGCTCTATGATTTAAGTCTGTAACATGTTATAACTGAATTTAGTAC
CCTAGTTTTGTTAAGCTATTAGGATTTTCTAATAGAACTTACTCCCCCTGCCTCCCCAGCCTTATGTTTCTTTTAATGACTTCTGGATCC

>27121_27121_1_EPT1-CCNI_EPT1_chr2_26596497_ENST00000260585_CCNI_chr4_77976533_ENST00000237654_length(amino acids)=415AA_BP=191
MAGYEYVSPEQLAGFDKYKYSAVDTNPLSLYVMHPFWNTIVKVFPTWLAPNLITFSGFLLVVFNFLLMAYFDPDFYASAPGHKHVPDWVW
IVVGILNFVAYTLDGVDGKQARRTNSSTPLGELFDHGLDSWSCVYFVVTVYSIFGRGSTGVSVFVLYLLLWVVLFSFILSHWEKYNTGIL
FLPWGYDISQVFHAIAVSTRPQLLFSLPKLSPSQHLAVLTKQLLHCMACNQLLQFRGSMLALAMVSLEMEKLIPDWLSLTIELLQKAQMD
SSQLIHCRELVAHHLSTLQSSLPLNSVYVYRPLKHTLVTCDKGVFRLHPSSVPGPDFSKDNSKPEVPVRGTAAFYHHLPAASGCKQTSTK

--------------------------------------------------------------
>27121_27121_2_EPT1-CCNI_EPT1_chr2_26596497_ENST00000260585_CCNI_chr4_77976533_ENST00000537948_length(transcript)=1451nt_BP=692nt
CTCCTACCTTCTCGGGCAGCCCAGTCTTTGCCATCCTTGCCCAGCCGGTGTGGTGCTTGTGTGTCACAGCCTTGTAGCCGGGAGTCGCTG
CCGAGTGGGCGCTCAGTTTTCGGGTCGTCATGGCTGGCTACGAATACGTGAGCCCGGAGCAGCTGGCTGGCTTTGATAAGTACAAGTACA
GTGCTGTGGATACCAATCCACTTTCTCTGTATGTCATGCATCCATTCTGGAACACTATAGTAAAGGTATTTCCTACTTGGCTGGCGCCCA
ATCTGATAACTTTTTCTGGCTTTCTGCTGGTCGTATTCAATTTTCTGCTAATGGCATACTTTGATCCTGACTTTTATGCCTCAGCACCAG
GTCACAAGCACGTGCCTGACTGGGTTTGGATTGTAGTGGGCATCCTCAACTTCGTAGCCTACACTCTAGATGGTGTGGACGGAAAGCAAG
CTCGCAGAACCAATTCTAGCACTCCCTTAGGGGAGCTTTTTGATCATGGCCTGGATAGTTGGTCATGTGTTTACTTTGTTGTGACTGTTT
ATTCCATCTTTGGAAGAGGATCAACTGGTGTCAGTGTTTTTGTTCTTTATCTCCTGCTATGGGTAGTTTTGTTTTCTTTCATCCTGTCCC
ACTGGGAAAAGTATAACACAGGGATTCTTTTCCTGCCATGGGGATATGACATTAGCCAGGTGTTCCATGCCATTGCAGTGTCAACTAGGC
CTCAGTTACTTTTCAGTTTGCCCAAATTGAGCCCATCTCAACATTTGGCAGTCCTTACCAAGCAACTACTTCACTGTATGGCCTGCAACC
AACTTCTGCAATTCAGAGGATCCATGCTTGCTCTGGCCATGGTTAGTCTGGAAATGGAGAAACTCATTCCTGATTGGCTTTCTCTTACAA
TTGAACTGCTTCAGAAAGCACAGATGGATAGCTCCCAGTTGATCCATTGTCGGGAGCTTGTGGCACATCACCTTTCTACTCTGCAGTCTT
CCCTGCCTCTGAATTCCGTTTATGTCTACCGTCCCCTCAAGCACACCCTGGTGACCTGTGACAAAGGAGTGTTCAGATTACATCCCTCCT
CTGTCCCAGGCCCAGACTTCTCCAAGGACAACAGCAAGCCAGAAGTGCCAGTCAGAGGTACAGCAGCCTTTTACCATCATCTCCCAGCTG
CCAGTGGGTGCAAGCAGACCTCTACTAAACGCAAAGTAGAGGAAATGGAAGTGGATGACTTCTATGATGGAATCAAACGGCTCTATAATG
AAGATAATGTCTCAGAAAATGTGGGTTCTGTGTGTGGCACTGATTTATCAAGACAAGAGGGACATGCTTCCCCTTGTCCACCTTTGCAGC
CTGTTTCTGTCATGTAGTTTCAACAAGTGCTACCTTTGAGTGTAAACTAAGGTAGACTACTTTGGGAATGAGAACATGCAAAATCAGGAA

>27121_27121_2_EPT1-CCNI_EPT1_chr2_26596497_ENST00000260585_CCNI_chr4_77976533_ENST00000537948_length(amino acids)=415AA_BP=191
MAGYEYVSPEQLAGFDKYKYSAVDTNPLSLYVMHPFWNTIVKVFPTWLAPNLITFSGFLLVVFNFLLMAYFDPDFYASAPGHKHVPDWVW
IVVGILNFVAYTLDGVDGKQARRTNSSTPLGELFDHGLDSWSCVYFVVTVYSIFGRGSTGVSVFVLYLLLWVVLFSFILSHWEKYNTGIL
FLPWGYDISQVFHAIAVSTRPQLLFSLPKLSPSQHLAVLTKQLLHCMACNQLLQFRGSMLALAMVSLEMEKLIPDWLSLTIELLQKAQMD
SSQLIHCRELVAHHLSTLQSSLPLNSVYVYRPLKHTLVTCDKGVFRLHPSSVPGPDFSKDNSKPEVPVRGTAAFYHHLPAASGCKQTSTK

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

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Fusion Gene PPI Analysis for EPT1-CCNI


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


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Related Drugs for EPT1-CCNI


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

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Related Diseases for EPT1-CCNI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource