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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11158

FusionGeneSummary for EHF_APOPT1

check button Fusion gene summary
Fusion gene informationFusion gene name: EHF_APOPT1
Fusion gene ID: 11158
HgeneTgene
Gene symbol

EHF

APOPT1

Gene ID

26298

84334

Gene nameETS homologous factorapoptogenic 1, mitochondrial
SynonymsESE3|ESE3B|ESEJAPOP|APOP1|C14orf153
Cytomap

11p13

14q32.33

Type of geneprotein-codingprotein-coding
DescriptionETS homologous factorESE3 transcription factorETS domain-containing transcription factorepithelium-specific Ets transcription factor 3hEHFapoptogenic protein 1, mitochondrialUPF0671 protein C14orf153
Modification date2018052320180523
UniProtAcc

Q9NZC4

Q96IL0

Ensembl transtripts involved in fusion geneENST00000527001, ENST00000257831, 
ENST00000450654, ENST00000530286, 
ENST00000533754, ENST00000531728, 
ENST00000531794, ENST00000527935, 
ENST00000409074, ENST00000556253, 
ENST00000247618, ENST00000477116, 
Fusion gene scores* DoF score8 X 9 X 4=2882 X 3 X 5=30
# samples 95
** MAII scorelog2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/30*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]

Functional or gene categories assigned by FusionGDB annotation
* 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


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBLCATCGA-E7-A5KE-01AEHFchr11

34642775

+APOPT1chr14

104037960

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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

+

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FusionProtFeatures for EHF_APOPT1


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

Q9NZC4

APOPT1

Q96IL0

Transcriptional activator that may play a role inregulating epithelial cell differentiation and proliferation. Mayact as a repressor for a specific subset of ETS/AP-1-responsivegenes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNAsequences 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 todevelopment and carcinogenesis by acting as a tumor suppressorgene or anti-oncogene. {ECO:0000269|PubMed:10527851,ECO:0000269|PubMed:10644770, ECO:0000269|PubMed:11259407,ECO:0000269|PubMed:12444029, ECO:0000269|PubMed:17027647}. Plays a role in the regulation of apoptosis. Mediatesmitochondria-induced cell death in vascular smooth muscle cellsthrough the release of cytochrome c from mitochondria, followed bythe activation of the caspase cascade.{ECO:0000250|UniProtKB:Q9CQW7}.

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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FusionGeneSequence for EHF_APOPT1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
EHFELF3, FRZB, XRCC6, XRCC5, CST6, KPRP, APP, ARG1APOPT1BAG3, CLUH


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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RelatedDrugs for EHF_APOPT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EHF_APOPT1


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