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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: 13182

FusionGeneSummary for FBXO42_EPHA2

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXO42_EPHA2
Fusion gene ID: 13182
HgeneTgene
Gene symbol

FBXO42

EPHA2

Gene ID

54455

1969

Gene nameF-box protein 42EPH receptor A2
SynonymsFbx42|JFKARCC2|CTPA|CTPP1|CTRCT6|ECK
Cytomap

1p36.13

1p36.13

Type of geneprotein-codingprotein-coding
DescriptionF-box only protein 42just one F-box and Kelch domain-containing proteinephrin type-A receptor 2epithelial cell receptor protein tyrosine kinasesoluble EPHA2 variant 1tyrosine-protein kinase receptor ECK
Modification date2018051920180523
UniProtAcc

Q6P3S6

P29317

Ensembl transtripts involved in fusion geneENST00000375592, ENST00000478089, 
ENST00000358432, ENST00000461614, 
Fusion gene scores* DoF score8 X 8 X 8=5124 X 4 X 4=64
# samples 124
** MAII scorelog2(12/512*10)=-2.09310940439148
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: FBXO42 [Title/Abstract] AND EPHA2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Tumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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
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
TCGALDCESCTCGA-VS-A8QC-01AFBXO42chr1

16632298

-EPHA2chr1

16451815

-
* 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-shitENST00000375592ENST00000358432FBXO42chr1

16632298

-EPHA2chr1

16451815

-
5CDS-intronENST00000375592ENST00000461614FBXO42chr1

16632298

-EPHA2chr1

16451815

-
5UTR-3CDSENST00000478089ENST00000358432FBXO42chr1

16632298

-EPHA2chr1

16451815

-
5UTR-intronENST00000478089ENST00000461614FBXO42chr1

16632298

-EPHA2chr1

16451815

-

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FusionProtFeatures for FBXO42_EPHA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXO42

Q6P3S6

EPHA2

P29317

Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specificallyrecognizes p53/TP53, promoting its ubiquitination and degradation.{ECO:0000269|PubMed:19509332}. 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 FBXO42_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 FBXO42_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
FBXO42TP53, CUL1, SKP1, RBX1, COPS6, SMURF1, RBPJ, GSK3A, ROCK2, RAB28, CCDC6, CST1, KLK6EPHA2SLA, 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 FBXO42_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 FBXO42_EPHA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEPHA2C1861825CATARACT, POSTERIOR POLAR, 12UNIPROT
TgeneEPHA2C0028326Noonan Syndrome1CTD_human
TgeneEPHA2C0175704LEOPARD Syndrome1CTD_human