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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: 11165

FusionGeneSummary for EHF_PDK4

check button Fusion gene summary
Fusion gene informationFusion gene name: EHF_PDK4
Fusion gene ID: 11165
HgeneTgene
Gene symbol

EHF

PDK4

Gene ID

26298

5166

Gene nameETS homologous factorpyruvate dehydrogenase kinase 4
SynonymsESE3|ESE3B|ESEJ-
Cytomap

11p13

7q21.3

Type of geneprotein-codingprotein-coding
DescriptionETS homologous factorESE3 transcription factorETS domain-containing transcription factorepithelium-specific Ets transcription factor 3hEHFpyruvate dehydrogenase kinase, isozyme 4[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 4, mitochondrialpyruvate dehydrogenase kinase, isoenzyme 4pyruvate dehydrogenase,
Modification date2018052320180519
UniProtAcc

Q9NZC4

Q16654

Ensembl transtripts involved in fusion geneENST00000527001, ENST00000257831, 
ENST00000450654, ENST00000530286, 
ENST00000533754, ENST00000531728, 
ENST00000531794, ENST00000527935, 
ENST00000005178, 
Fusion gene scores* DoF score8 X 9 X 4=2881 X 1 X 1=1
# samples 91
** MAII scorelog2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: EHF [Title/Abstract] AND PDK4 [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

TgenePDK4

GO:0009267

cellular response to starvation

14966024


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
ChiTaRS3.1AW992900EHFchr11

34684241

-PDK4chr7

95214085

+
* 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
intron-3UTRENST00000527001ENST00000005178EHFchr11

34684241

-PDK4chr7

95214085

+
intron-3UTRENST00000257831ENST00000005178EHFchr11

34684241

-PDK4chr7

95214085

+
intron-3UTRENST00000450654ENST00000005178EHFchr11

34684241

-PDK4chr7

95214085

+
intron-3UTRENST00000530286ENST00000005178EHFchr11

34684241

-PDK4chr7

95214085

+
intron-3UTRENST00000533754ENST00000005178EHFchr11

34684241

-PDK4chr7

95214085

+
intron-3UTRENST00000531728ENST00000005178EHFchr11

34684241

-PDK4chr7

95214085

+
intron-3UTRENST00000531794ENST00000005178EHFchr11

34684241

-PDK4chr7

95214085

+
intron-3UTRENST00000527935ENST00000005178EHFchr11

34684241

-PDK4chr7

95214085

+

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FusionProtFeatures for EHF_PDK4


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

Q9NZC4

PDK4

Q16654

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}. Kinase that plays a key role in regulation of glucoseand fatty acid metabolism and homeostasis via phosphorylation ofthe pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibitspyruvate dehydrogenase activity, and thereby regulates metaboliteflux through the tricarboxylic acid cycle, down-regulates aerobicrespiration and inhibits the formation of acetyl-coenzyme A frompyruvate. Inhibition of pyruvate dehydrogenase decreases glucoseutilization and increases fat metabolism in response to prolongedfasting and starvation. Plays an important role in maintainingnormal blood glucose levels under starvation, and is involved inthe insulin signaling cascade. Via its regulation of pyruvatedehydrogenase activity, plays an important role in maintainingnormal blood pH and in preventing the accumulation of ketonebodies under starvation. In the fed state, mediates cellularresponses to glucose levels and to a high-fat diet. Regulates bothfatty acid oxidation and de novo fatty acid biosynthesis. Plays arole in the generation of reactive oxygen species. Protectsdetached epithelial cells against anoikis. Plays a role in cellproliferation via its role in regulating carbohydrate and fattyacid metabolism. {ECO:0000269|PubMed:15955060,ECO:0000269|PubMed:18658136, ECO:0000269|PubMed:21816445,ECO:0000269|PubMed:21852536}.

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_PDK4


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_PDK4


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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RelatedDrugs for EHF_PDK4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePDK4Q16654DB00755Tretinoin[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrialsmall moleculeapproved|investigational|nutraceutical

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RelatedDiseases for EHF_PDK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEHFC0033578Prostatic Neoplasms1CTD_human
TgenePDK4C0011853Diabetes Mellitus, Experimental1CTD_human
TgenePDK4C0151744Myocardial Ischemia1CTD_human
TgenePDK4C4277682Chemical and Drug Induced Liver Injury1CTD_human