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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:EHF-APOPT1 (FusionGDB2 ID:25541)

Fusion Gene Summary for EHF-APOPT1

check button Fusion gene summary
Fusion gene informationFusion gene name: EHF-APOPT1
Fusion gene ID: 25541
HgeneTgene
Gene symbol

EHF

APOPT1

Gene ID

26298

84334

Gene nameETS homologous factorcytochrome c oxidase assembly factor 8
SynonymsESE3|ESE3B|ESEJAPOP|APOP1|APOPT1|C14orf153
Cytomap

11p13

14q32.33

Type of geneprotein-codingprotein-coding
DescriptionETS homologous factorESE3 transcription factorETS domain-containing transcription factorepithelium-specific Ets transcription factor 3hEHFcytochrome c oxidase assembly factor 8UPF0671 protein C14orf153apoptogenic 1, mitochondrial
Modification date2020032920200313
UniProtAcc

Q9NZC4

.
Ensembl transtripts involved in fusion geneENST00000527001, ENST00000257831, 
ENST00000450654, ENST00000530286, 
ENST00000533754, ENST00000531728, 
ENST00000531794, ENST00000527935, 
ENST00000409074, ENST00000556253, 
ENST00000247618, ENST00000477116, 
Fusion gene scores* DoF score9 X 13 X 4=4682 X 3 X 3=18
# samples 123
** MAII scorelog2(12/468*10)=-1.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EHF [Title/Abstract] AND APOPT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEHF(34642775)-APOPT1(104037960), # 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
HgeneEHF

GO:0045893

positive regulation of transcription, DNA-templated

10644770

HgeneEHF

GO:0045944

positive regulation of transcription by RNA polymerase II

17027647

TgeneAPOPT1

GO:0000302

response to reactive oxygen species

30552096

TgeneAPOPT1

GO:0033617

mitochondrial respiratory chain complex IV assembly

30552096

TgeneAPOPT1

GO:0050821

protein stabilization

30552096

TgeneAPOPT1

GO:1904960

positive regulation of cytochrome-c oxidase activity

30552096


check buttonFusion gene breakpoints across EHF (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 APOPT1 (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
ChimerDB4BLCATCGA-E7-A5KE-01AEHFchr11

34642775

+APOPT1chr14

104037960

+


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Fusion Gene ORF analysis for EHF-APOPT1

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
3UTR-3CDSENST00000527001ENST00000409074EHFchr11

34642775

+APOPT1chr14

104037960

+
3UTR-3CDSENST00000527001ENST00000556253EHFchr11

34642775

+APOPT1chr14

104037960

+
3UTR-3CDSENST00000527001ENST00000247618EHFchr11

34642775

+APOPT1chr14

104037960

+
3UTR-3UTRENST00000527001ENST00000477116EHFchr11

34642775

+APOPT1chr14

104037960

+
5UTR-3CDSENST00000257831ENST00000409074EHFchr11

34642775

+APOPT1chr14

104037960

+
5UTR-3CDSENST00000257831ENST00000556253EHFchr11

34642775

+APOPT1chr14

104037960

+
5UTR-3CDSENST00000257831ENST00000247618EHFchr11

34642775

+APOPT1chr14

104037960

+
5UTR-3UTRENST00000257831ENST00000477116EHFchr11

34642775

+APOPT1chr14

104037960

+
5UTR-3CDSENST00000450654ENST00000409074EHFchr11

34642775

+APOPT1chr14

104037960

+
5UTR-3CDSENST00000450654ENST00000556253EHFchr11

34642775

+APOPT1chr14

104037960

+
5UTR-3CDSENST00000450654ENST00000247618EHFchr11

34642775

+APOPT1chr14

104037960

+
5UTR-3UTRENST00000450654ENST00000477116EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000530286ENST00000409074EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000530286ENST00000556253EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000530286ENST00000247618EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3UTRENST00000530286ENST00000477116EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000533754ENST00000409074EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000533754ENST00000556253EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000533754ENST00000247618EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3UTRENST00000533754ENST00000477116EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000531728ENST00000409074EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000531728ENST00000556253EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000531728ENST00000247618EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3UTRENST00000531728ENST00000477116EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000531794ENST00000409074EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000531794ENST00000556253EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000531794ENST00000247618EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3UTRENST00000531794ENST00000477116EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000527935ENST00000409074EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000527935ENST00000556253EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3CDSENST00000527935ENST00000247618EHFchr11

34642775

+APOPT1chr14

104037960

+
intron-3UTRENST00000527935ENST00000477116EHFchr11

34642775

+APOPT1chr14

104037960

+

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 EHF-APOPT1


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)
EHFchr1134642775+APOPT1chr14104037959+2.28E-070.99999976
EHFchr1134642775+APOPT1chr14104037959+2.28E-070.99999976

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.

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Fusion Protein Features for EHF-APOPT1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q9NZC4

.
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}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 EHF-APOPT1


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 EHF-APOPT1


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 EHF-APOPT1


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 EHF-APOPT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEHFC0033578Prostatic Neoplasms1CTD_human
HgeneEHFC0376358Malignant neoplasm of prostate1CTD_human