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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:ELF2-CCNI (FusionGDB2 ID:HG1998TG10983)

Fusion Gene Summary for ELF2-CCNI

check button Fusion gene summary
Fusion gene informationFusion gene name: ELF2-CCNI
Fusion gene ID: hg1998tg10983
HgeneTgene
Gene symbol

ELF2

CCNI

Gene ID

1998

10983

Gene nameE74 like ETS transcription factor 2cyclin I
SynonymsEU32|NERF|NERF-1A|NERF-1B|NERF-1a,b|NERF-2CCNI1|CYC1|CYI
Cytomap('ELF2')('CCNI')

4q31.1

4q21.1

Type of geneprotein-codingprotein-coding
DescriptionETS-related transcription factor Elf-2E74-like factor 2 (ets domain transcription factor)ets family transcription factor ELF2Cnew Ets-related factorcyclin-Icyclin ITI
Modification date2020031320200327
UniProtAcc.

Q14094

Ensembl transtripts involved in fusion geneENST00000394235, ENST00000265495, 
ENST00000358635, ENST00000379549, 
ENST00000379550, ENST00000510408, 
ENST00000515489, 
Fusion gene scores* DoF score11 X 10 X 8=88017 X 12 X 5=1020
# samples 1219
** MAII scorelog2(12/880*10)=-2.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: ELF2 [Title/Abstract] AND CCNI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointELF2(140098121)-CCNI(77979788), # 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
HgeneELF2

GO:0006357

regulation of transcription by RNA polymerase II

8756667

HgeneELF2

GO:0045893

positive regulation of transcription, DNA-templated

8756667



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
ChimerDB4Non-CancerERR315420ELF2chr4

140098121

-CCNIchr4

77979788

-


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Fusion Gene ORF analysis for ELF2-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
5UTR-3CDSENST00000394235ENST00000237654ELF2chr4

140098121

-CCNIchr4

77979788

-
5UTR-3CDSENST00000394235ENST00000537948ELF2chr4

140098121

-CCNIchr4

77979788

-
5UTR-5UTRENST00000394235ENST00000504697ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000265495ENST00000237654ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000265495ENST00000537948ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000358635ENST00000237654ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000358635ENST00000537948ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000379549ENST00000237654ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000379549ENST00000537948ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000379550ENST00000237654ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000379550ENST00000537948ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000510408ENST00000237654ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000510408ENST00000537948ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000515489ENST00000237654ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-3CDSENST00000515489ENST00000537948ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-5UTRENST00000265495ENST00000504697ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-5UTRENST00000358635ENST00000504697ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-5UTRENST00000379549ENST00000504697ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-5UTRENST00000379550ENST00000504697ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-5UTRENST00000510408ENST00000504697ELF2chr4

140098121

-CCNIchr4

77979788

-
intron-5UTRENST00000515489ENST00000504697ELF2chr4

140098121

-CCNIchr4

77979788

-

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)

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

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Fusion Genomic Features for ELF2-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)


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Fusion Protein Features for ELF2-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/:140098121/:77979788)
- 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

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


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Fusion Gene Sequence for ELF2-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.

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Fusion Gene PPI Analysis for ELF2-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 ELF2-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 ELF2-CCNI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneELF2C0087031Juvenile-Onset Still Disease1CTD_human
HgeneELF2C3495559Juvenile arthritis1CTD_human
HgeneELF2C3714758Juvenile psoriatic arthritis1CTD_human
HgeneELF2C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneELF2C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human