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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: 26705

FusionGeneSummary for PEX14_EPHA2

check button Fusion gene summary
Fusion gene informationFusion gene name: PEX14_EPHA2
Fusion gene ID: 26705
HgeneTgene
Gene symbol

PEX14

EPHA2

Gene ID

5195

1969

Gene nameperoxisomal biogenesis factor 14EPH receptor A2
SynonymsNAPP2|PBD13A|Pex14p|dJ734G22.2ARCC2|CTPA|CTPP1|CTRCT6|ECK
Cytomap

1p36.22

1p36.13

Type of geneprotein-codingprotein-coding
Descriptionperoxisomal membrane protein PEX14NF-E2 associated polypeptide 2PTS1 receptor docking proteinperoxin-14peroxisomal membrane anchor protein PEX14peroxisomal membrane anchor protein Pex14pephrin type-A receptor 2epithelial cell receptor protein tyrosine kinasesoluble EPHA2 variant 1tyrosine-protein kinase receptor ECK
Modification date2018052320180523
UniProtAcc

O75381

P29317

Ensembl transtripts involved in fusion geneENST00000356607, ENST00000538836, 
ENST00000492696, 
ENST00000358432, 
ENST00000461614, 
Fusion gene scores* DoF score7 X 5 X 7=2454 X 4 X 4=64
# samples 84
** MAII scorelog2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PEX14 [Title/Abstract] AND EPHA2 [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
HgenePEX14

GO:0016561

protein import into peroxisome matrix, translocation

21525035

HgenePEX14

GO:0032091

negative regulation of protein binding

21976670

HgenePEX14

GO:0034453

microtubule anchoring

21525035

HgenePEX14

GO:0036250

peroxisome transport along microtubule

21525035

HgenePEX14

GO:0043433

negative regulation of DNA binding transcription factor activity

11863372

HgenePEX14

GO:0044721

protein import into peroxisome matrix, substrate release

21976670

HgenePEX14

GO:0045892

negative regulation of transcription, DNA-templated

11863372

HgenePEX14

GO:0051260

protein homooligomerization

12488033

HgenePEX14

GO:0065003

protein-containing complex assembly

21525035

HgenePEX14

GO:1901094

negative regulation of protein homotetramerization

21976670

TgeneEPHA2

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

18339848

TgeneEPHA2

GO:0033628

regulation of cell adhesion mediated by integrin

10655584

TgeneEPHA2

GO:0043491

protein kinase B signaling

19573808

TgeneEPHA2

GO:0048013

ephrin receptor signaling pathway

10655584|20861311

TgeneEPHA2

GO:0051898

negative regulation of protein kinase B signaling

19573808


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
TCGARVUCECTCGA-AJ-A3NH-01APEX14chr1

10555378

+EPHA2chr1

16458934

-
* 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
Frame-shitENST00000356607ENST00000358432PEX14chr1

10555378

+EPHA2chr1

16458934

-
5CDS-intronENST00000356607ENST00000461614PEX14chr1

10555378

+EPHA2chr1

16458934

-
5UTR-3CDSENST00000538836ENST00000358432PEX14chr1

10555378

+EPHA2chr1

16458934

-
5UTR-intronENST00000538836ENST00000461614PEX14chr1

10555378

+EPHA2chr1

16458934

-
intron-3CDSENST00000492696ENST00000358432PEX14chr1

10555378

+EPHA2chr1

16458934

-
intron-intronENST00000492696ENST00000461614PEX14chr1

10555378

+EPHA2chr1

16458934

-

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FusionProtFeatures for PEX14_EPHA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PEX14

O75381

EPHA2

P29317

Peroxisome membrane protein that is an essentialcomponent of the peroxisomal import machinery. Functions as adocking factor for the predominantly cytoplasmic PTS1 receptor(PEX5). Plays a key role for peroxisome movement through a directinteraction with tubulin. {ECO:0000269|PubMed:21525035,ECO:0000269|PubMed:9653144}. Receptor tyrosine kinase which binds promiscuouslymembrane-bound ephrin-A family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling. Activated by the ligand ephrin-A1/EFNA1 regulatesmigration, integrin-mediated adhesion, proliferation anddifferentiation of cells. Regulates cell adhesion anddifferentiation through DSG1/desmoglein-1 and inhibition of theERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May alsoparticipate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration.During development, may function in distinctive aspects of patternformation and subsequently in development of several fetaltissues. Involved for instance in angiogenesis, in early hindbraindevelopment and epithelial proliferation and branchingmorphogenesis during mammary gland development. Engaged by theligand ephrin-A5/EFNA5 may regulate lens fiber cells shape andinteractions and be important for lens transparency developmentand maintenance. With ephrin-A2/EFNA2 may play a role in boneremodeling through regulation of osteoclastogenesis andosteoblastogenesis. {ECO:0000269|PubMed:10655584,ECO:0000269|PubMed:16236711, ECO:0000269|PubMed:18339848,ECO:0000269|PubMed:19573808, ECO:0000269|PubMed:20679435,ECO:0000269|PubMed:20861311, ECO:0000269|PubMed:23358419,ECO:0000269|PubMed:26158630, ECO:0000269|PubMed:27385333}. (Microbial infection) Acts as a receptor for hepatitis Cvirus (HCV) in hepatocytes and facilitates its cell entry.Mediates HCV entry by promoting the formation of the CD81-CLDN1receptor complexes that are essential for HCV entry and byenhancing membrane fusion of cells expressing HCV envelopeglycoproteins. {ECO:0000269|PubMed:21516087}.

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 PEX14_EPHA2


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 PEX14_EPHA2


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
PEX14MED8, ZHX1, SMARCC2, PEX5, PEX19, PEX13, PEX7, PEX14, ABCD3, AGPS, ATAD1, CNOT1, DHRS4, FAR1, GNPAT, HSD17B4, IMPDH2, MAP2K2, PEX10, PEX12, PEX16, PEX3, PEX2, TTC1, ARHGEF2, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, CCT8, CNP, DCTN1, DNM1L, DNM2, DYNC1H1, DYNC1I2, DYNC2H1, IQGAP1, IQGAP2, KIF11, LRPPRC, TUBB8, TCP1, TUBA1A, TUBA4A, TUBB, TUBB2A, TUBB2B, TUBB4B, TUBB3, TUBB4A, TUBB6, TUBG2, SLC27A2, NEU2, PRKCSH, AP2M1, PNPLA3, MIER2, ELAVL3, NUP35, VAPA, IKZF5, CROCC, CCL4, HOMER3, FOXJ1, GPR156, TP63, P4HA3, PNPLA2, NME3, ATRIP, SIRT6, RPL28, MTNR1AEPHA2SLA, SHC1, GRB2, PIK3R1, PTK2, PTPN11, ACP1, ELAVL1, CBL, EPHA2, APP, EEF2, HSP90AA1, GATAD1, KPNA3, RBL1, NUDT9, ADRBK1, CDK17, PSME2, LSM7, ITGA3, ITGB1, ITGB3, ITGB5, ITGAV, CLTC, AP2M1, AP2B1, AP2A1, AP2S1, EPS15, UBE4A, EGFR, SLC25A41, TAS2R7, CCR1, TMEM185A, RD3, PIFO, NTRK1, TMEM17, TMEM216, FANCD2, SSR3, TGFBR1, ZBTB14, VPS4B, SCAMP3, HEXIM1, GOLIM4, NDUFA13, SMARCAD1, MRPS35, MICALL1, TSG101, CDH1, DUSP18, DUSP19, DUPD1, DUSP26, SDC1, CYP2S1, GJB7, LRRIQ1, NCSTN, NTRK3, MAS1, CIR1, SIGLECL1, TARDBP, MRAP2, PPM1L, ILKAP, PTPRR, PTPN7, DUSP14, STYX, TPTE, TPTE2, TES


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 PEX14_EPHA2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEPHA2P29317DB08896RegorafenibEphrin type-A receptor 2small moleculeapproved
TgeneEPHA2P29317DB01254DasatinibEphrin type-A receptor 2small moleculeapproved|investigational

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RelatedDiseases for PEX14_EPHA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePEX14C1832200Peroxisome biogenesis disorders3CTD_human
HgenePEX14C0043459Zellweger Syndrome2CTD_human;ORPHANET
HgenePEX14C0029927Ovarian Cysts1CTD_human
TgeneEPHA2C1861825CATARACT, POSTERIOR POLAR, 12UNIPROT
TgeneEPHA2C0028326Noonan Syndrome1CTD_human
TgeneEPHA2C0175704LEOPARD Syndrome1CTD_human