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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:CD83-EHF (FusionGDB2 ID:HG9308TG26298)

Fusion Gene Summary for CD83-EHF

check button Fusion gene summary
Fusion gene informationFusion gene name: CD83-EHF
Fusion gene ID: hg9308tg26298
HgeneTgene
Gene symbol

CD83

EHF

Gene ID

9308

26298

Gene nameCD83 moleculeETS homologous factor
SynonymsBL11|HB15ESE3|ESE3B|ESEJ
Cytomap('CD83')('EHF')

6p23

11p13

Type of geneprotein-codingprotein-coding
DescriptionCD83 antigenB-cell activation proteinCD83 antigen (activated B lymphocytes, immunoglobulin superfamily)cell surface protein HB15cell-surface glycoproteinhCD83ETS homologous factorESE3 transcription factorETS domain-containing transcription factorepithelium-specific Ets transcription factor 3hEHF
Modification date2020031320200329
UniProtAcc

Q01151

.
Ensembl transtripts involved in fusion geneENST00000379153, 
Fusion gene scores* DoF score4 X 4 X 4=6410 X 10 X 7=700
# samples 414
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/700*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD83 [Title/Abstract] AND EHF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD83(14118296)-EHF(34664175), # samples:3
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
TgeneEHF

GO:0045893

positive regulation of transcription, DNA-templated

10644770

TgeneEHF

GO:0045944

positive regulation of transcription by RNA polymerase II

17027647



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
ChimerDB4SARCTCGA-DX-AB2V-01ACD83chr6

14118296

+EHFchr11

34664175

+
ChimerDB4SARCTCGA-SI-A71Q-01ACD83chr6

14118296

-EHFchr11

34664175

+
ChimerDB4SARCTCGA-SI-A71Q-01ACD83chr6

14118296

+EHFchr11

34664175

+


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Fusion Gene ORF analysis for CD83-EHF

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-3UTRENST00000379153ENST00000527001CD83chr6

14118296

+EHFchr11

34664175

+
5CDS-5UTRENST00000379153ENST00000257831CD83chr6

14118296

+EHFchr11

34664175

+
5CDS-5UTRENST00000379153ENST00000450654CD83chr6

14118296

+EHFchr11

34664175

+
5CDS-5UTRENST00000379153ENST00000527935CD83chr6

14118296

+EHFchr11

34664175

+
5CDS-5UTRENST00000379153ENST00000530286CD83chr6

14118296

+EHFchr11

34664175

+
5CDS-5UTRENST00000379153ENST00000531728CD83chr6

14118296

+EHFchr11

34664175

+
5CDS-5UTRENST00000379153ENST00000531794CD83chr6

14118296

+EHFchr11

34664175

+
5CDS-5UTRENST00000379153ENST00000533754CD83chr6

14118296

+EHFchr11

34664175

+

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 CD83-EHF


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)
CD83chr614118296+EHFchr1134664173+2.48E-050.9999752
CD83chr614118296+EHFchr1134664173+2.48E-050.9999752
CD83chr614118296+EHFchr1134664173+2.48E-050.9999752
CD83chr614118296+EHFchr1134664173+2.48E-050.9999752


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%

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Fusion Protein Features for CD83-EHF


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/:14118296/:34664175)
- 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
CD83

Q01151

.
FUNCTION: May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation.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 CD83-EHF


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 CD83-EHF


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 CD83-EHF


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 CD83-EHF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD83C0003873Rheumatoid Arthritis1CTD_human
HgeneCD83C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCD83C0037274Dermatologic disorders1CTD_human
HgeneCD83C0087031Juvenile-Onset Still Disease1CTD_human
HgeneCD83C0274861Arsenic Poisoning, Inorganic1CTD_human
HgeneCD83C0274862Nervous System, Organic Arsenic Poisoning1CTD_human
HgeneCD83C0311375Arsenic Poisoning1CTD_human
HgeneCD83C0751851Arsenic Encephalopathy1CTD_human
HgeneCD83C0751852Arsenic Induced Polyneuropathy1CTD_human
HgeneCD83C3495559Juvenile arthritis1CTD_human
HgeneCD83C3714758Juvenile psoriatic arthritis1CTD_human
HgeneCD83C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneCD83C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human