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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:ABTB2-EHF (FusionGDB2 ID:572)

Fusion Gene Summary for ABTB2-EHF

check button Fusion gene summary
Fusion gene informationFusion gene name: ABTB2-EHF
Fusion gene ID: 572
HgeneTgene
Gene symbol

ABTB2

EHF

Gene ID

25841

26298

Gene nameankyrin repeat and BTB domain containing 2ETS homologous factor
SynonymsABTB2A|BTBD22ESE3|ESE3B|ESEJ
Cytomap

11p13

11p13

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and BTB/POZ domain-containing protein 2ankyrin repeat and BTB (POZ) domain containing 2ETS homologous factorESE3 transcription factorETS domain-containing transcription factorepithelium-specific Ets transcription factor 3hEHF
Modification date2020031320200329
UniProtAcc.

Q9NZC4

Ensembl transtripts involved in fusion geneENST00000298992, ENST00000435224, 
ENST00000530814, 		ENST00000527001, 
ENST00000257831, ENST00000450654, 
ENST00000527935, ENST00000530286, 
ENST00000531728, ENST00000531794, 
ENST00000533754, 
Fusion gene scores* DoF score13 X 10 X 3=39010 X 10 X 7=700
# samples 1614
** MAII scorelog2(16/390*10)=-1.28540221886225
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: ABTB2 [Title/Abstract] AND EHF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABTB2(34378247)-EHF(34664174), # samples:1
ABTB2(34378248)-EHF(34664175), # 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
TgeneEHF

GO:0045893

positive regulation of transcription, DNA-templated

10644770

TgeneEHF

GO:0045944

positive regulation of transcription by RNA polymerase II

17027647


check buttonFusion gene breakpoints across ABTB2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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-VQ-A922-01AABTB2chr11

34378248

-EHFchr11

34664175

+
ChimerDB4STADTCGA-VQ-A922ABTB2chr11

34378247

-EHFchr11

34664174

+


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Fusion Gene ORF analysis for ABTB2-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-3UTRENST00000298992ENST00000527001ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-3UTRENST00000298992ENST00000527001ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-3UTRENST00000435224ENST00000527001ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-3UTRENST00000435224ENST00000527001ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000298992ENST00000257831ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000298992ENST00000257831ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000298992ENST00000450654ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000298992ENST00000450654ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000298992ENST00000527935ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000298992ENST00000527935ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000298992ENST00000530286ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000298992ENST00000530286ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000298992ENST00000531728ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000298992ENST00000531728ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000298992ENST00000531794ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000298992ENST00000531794ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000298992ENST00000533754ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000298992ENST00000533754ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000435224ENST00000257831ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000435224ENST00000257831ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000435224ENST00000450654ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000435224ENST00000450654ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000435224ENST00000527935ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000435224ENST00000527935ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000435224ENST00000530286ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000435224ENST00000530286ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000435224ENST00000531728ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000435224ENST00000531728ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000435224ENST00000531794ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000435224ENST00000531794ABTB2chr11

34378247

-EHFchr11

34664174

+
5CDS-5UTRENST00000435224ENST00000533754ABTB2chr11

34378248

-EHFchr11

34664175

+
5CDS-5UTRENST00000435224ENST00000533754ABTB2chr11

34378247

-EHFchr11

34664174

+
intron-3UTRENST00000530814ENST00000527001ABTB2chr11

34378248

-EHFchr11

34664175

+
intron-3UTRENST00000530814ENST00000527001ABTB2chr11

34378247

-EHFchr11

34664174

+
intron-5UTRENST00000530814ENST00000257831ABTB2chr11

34378248

-EHFchr11

34664175

+
intron-5UTRENST00000530814ENST00000257831ABTB2chr11

34378247

-EHFchr11

34664174

+
intron-5UTRENST00000530814ENST00000450654ABTB2chr11

34378248

-EHFchr11

34664175

+
intron-5UTRENST00000530814ENST00000450654ABTB2chr11

34378247

-EHFchr11

34664174

+
intron-5UTRENST00000530814ENST00000527935ABTB2chr11

34378248

-EHFchr11

34664175

+
intron-5UTRENST00000530814ENST00000527935ABTB2chr11

34378247

-EHFchr11

34664174

+
intron-5UTRENST00000530814ENST00000530286ABTB2chr11

34378248

-EHFchr11

34664175

+
intron-5UTRENST00000530814ENST00000530286ABTB2chr11

34378247

-EHFchr11

34664174

+
intron-5UTRENST00000530814ENST00000531728ABTB2chr11

34378248

-EHFchr11

34664175

+
intron-5UTRENST00000530814ENST00000531728ABTB2chr11

34378247

-EHFchr11

34664174

+
intron-5UTRENST00000530814ENST00000531794ABTB2chr11

34378248

-EHFchr11

34664175

+
intron-5UTRENST00000530814ENST00000531794ABTB2chr11

34378247

-EHFchr11

34664174

+
intron-5UTRENST00000530814ENST00000533754ABTB2chr11

34378248

-EHFchr11

34664175

+
intron-5UTRENST00000530814ENST00000533754ABTB2chr11

34378247

-EHFchr11

34664174

+

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 ABTB2-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)
ABTB2chr1134378247-EHFchr1134664173+3.41E-060.99999654
ABTB2chr1134378247-EHFchr1134664173+3.41E-060.99999654
ABTB2chr1134378247-EHFchr1134664173+3.41E-060.99999654
ABTB2chr1134378247-EHFchr1134664173+3.41E-060.99999654

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.

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 ABTB2-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/:34378247/:34664174)
- 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
.EHF

Q9NZC4

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}.FUNCTION: Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene. {ECO:0000269|PubMed:10527851, ECO:0000269|PubMed:10644770, ECO:0000269|PubMed:11259407, ECO:0000269|PubMed:12444029, ECO:0000269|PubMed:17027647}.

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 ABTB2-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 ABTB2-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 ABTB2-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 ABTB2-EHF


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