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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: 26475

FusionGeneSummary for PDHX_EHF

check button Fusion gene summary
Fusion gene informationFusion gene name: PDHX_EHF
Fusion gene ID: 26475
HgeneTgene
Gene symbol

PDHX

EHF

Gene ID

8050

26298

Gene namepyruvate dehydrogenase complex component XETS homologous factor
SynonymsDLDBP|E3BP|OPDX|PDHXD|PDX1|proXESE3|ESE3B|ESEJ
Cytomap

11p13

11p13

Type of geneprotein-codingprotein-coding
Descriptionpyruvate dehydrogenase protein X component, mitochondrialdihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complexlipoyl-containing pyruvate dehydrogenase complex component Xpyruvate dehydrogenase complex, E3-binding protein subuETS homologous factorESE3 transcription factorETS domain-containing transcription factorepithelium-specific Ets transcription factor 3hEHF
Modification date2018052220180523
UniProtAcc

O00330

Q9NZC4

Ensembl transtripts involved in fusion geneENST00000448838, ENST00000227868, 
ENST00000430469, ENST00000477173, 
ENST00000527001, ENST00000257831, 
ENST00000450654, ENST00000530286, 
ENST00000533754, ENST00000531728, 
ENST00000531794, ENST00000527935, 
Fusion gene scores* DoF score9 X 9 X 5=4053 X 3 X 3=27
# samples 124
** MAII scorelog2(12/405*10)=-1.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PDHX [Title/Abstract] AND EHF [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
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 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
TCGARVREADTCGA-AG-3731-01APDHXchr11

34969153

+EHFchr11

34664175

+
* 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
5CDS-3UTRENST00000448838ENST00000527001PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000448838ENST00000257831PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000448838ENST00000450654PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000448838ENST00000530286PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000448838ENST00000533754PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000448838ENST00000531728PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000448838ENST00000531794PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000448838ENST00000527935PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-3UTRENST00000227868ENST00000527001PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000227868ENST00000257831PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000227868ENST00000450654PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000227868ENST00000530286PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000227868ENST00000533754PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000227868ENST00000531728PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000227868ENST00000531794PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000227868ENST00000527935PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-3UTRENST00000430469ENST00000527001PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000430469ENST00000257831PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000430469ENST00000450654PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000430469ENST00000530286PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000430469ENST00000533754PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000430469ENST00000531728PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000430469ENST00000531794PDHXchr11

34969153

+EHFchr11

34664175

+
5CDS-5UTRENST00000430469ENST00000527935PDHXchr11

34969153

+EHFchr11

34664175

+
intron-3UTRENST00000477173ENST00000527001PDHXchr11

34969153

+EHFchr11

34664175

+
intron-5UTRENST00000477173ENST00000257831PDHXchr11

34969153

+EHFchr11

34664175

+
intron-5UTRENST00000477173ENST00000450654PDHXchr11

34969153

+EHFchr11

34664175

+
intron-5UTRENST00000477173ENST00000530286PDHXchr11

34969153

+EHFchr11

34664175

+
intron-5UTRENST00000477173ENST00000533754PDHXchr11

34969153

+EHFchr11

34664175

+
intron-5UTRENST00000477173ENST00000531728PDHXchr11

34969153

+EHFchr11

34664175

+
intron-5UTRENST00000477173ENST00000531794PDHXchr11

34969153

+EHFchr11

34664175

+
intron-5UTRENST00000477173ENST00000527935PDHXchr11

34969153

+EHFchr11

34664175

+

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FusionProtFeatures for PDHX_EHF


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

O00330

EHF

Q9NZC4

Required for anchoring dihydrolipoamide dehydrogenase(E3) to the dihydrolipoamide transacetylase (E2) core of thepyruvate dehydrogenase complexes of eukaryotes. This specificbinding is essential for a functional PDH complex. 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}.

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 PDHX_EHF


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 PDHX_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
PDHXEWSR1, DLAT, PDK2, PDHB, PDHA1, OGDH, EIF3C, SLC25A3, ABCC1, MARC1, ACTN1, LGR4, CDKN1A, AGTRAP, NXF1, EP300, NEUROD1, DLD, PDK1, LGALS3, CS, STAT5A, STAT5B, HDAC6, NF2, HSD17B10, PDK3, FOXD4, MTIF2, PREPLEHFELF3, FRZB, XRCC6, XRCC5, CST6, KPRP, APP, ARG1


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 PDHX_EHF


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 PDHX_EHF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDHXC3714756Intellectual Disability1CTD_human;HPO
TgeneEHFC0033578Prostatic Neoplasms1CTD_human