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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: 11821

FusionGeneSummary for EPHB2_PDZD4

check button Fusion gene summary
Fusion gene informationFusion gene name: EPHB2_PDZD4
Fusion gene ID: 11821
HgeneTgene
Gene symbol

EPHB2

PDZD4

Gene ID

2048

57595

Gene nameEPH receptor B2PDZ domain containing 4
SynonymsCAPB|DRT|EK5|EPHT3|ERK|Hek5|PCBC|Tyro5LNX5|LU1|PDZK4|PDZRN4L
Cytomap

1p36.12

Xq28

Type of geneprotein-codingprotein-coding
Descriptionephrin type-B receptor 2EPH-like kinase 5developmentally-regulated Eph-related tyrosine kinaseelk-related tyrosine kinaseeph tyrosine kinase 3protein-tyrosine kinase HEK5renal carcinoma antigen NY-REN-47tyrosine-protein kinase TYRO5tyrosine-proteiPDZ domain-containing protein 4PDZ domain-containing RING finger protein 4-like protein
Modification date2018052320180523
UniProtAcc

P29323

Q76G19

Ensembl transtripts involved in fusion geneENST00000544305, ENST00000374630, 
ENST00000400191, ENST00000374632, 
ENST00000374627, ENST00000465676, 
ENST00000164640, ENST00000393758, 
ENST00000544474, ENST00000475140, 
Fusion gene scores* DoF score7 X 4 X 6=1682 X 1 X 2=4
# samples 72
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: EPHB2 [Title/Abstract] AND PDZD4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) 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

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
TCGARVLGGTCGA-KT-A7W1-01AEPHB2chr1

23111569

+PDZD4chrX

153074050

-
* 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-shitENST00000544305ENST00000164640EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000544305ENST00000393758EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-intronENST00000544305ENST00000544474EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000544305ENST00000475140EPHB2chr1

23111569

+PDZD4chrX

153074050

-
Frame-shitENST00000374630ENST00000164640EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000374630ENST00000393758EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-intronENST00000374630ENST00000544474EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000374630ENST00000475140EPHB2chr1

23111569

+PDZD4chrX

153074050

-
Frame-shitENST00000400191ENST00000164640EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000400191ENST00000393758EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-intronENST00000400191ENST00000544474EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000400191ENST00000475140EPHB2chr1

23111569

+PDZD4chrX

153074050

-
Frame-shitENST00000374632ENST00000164640EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000374632ENST00000393758EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-intronENST00000374632ENST00000544474EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000374632ENST00000475140EPHB2chr1

23111569

+PDZD4chrX

153074050

-
Frame-shitENST00000374627ENST00000164640EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000374627ENST00000393758EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-intronENST00000374627ENST00000544474EPHB2chr1

23111569

+PDZD4chrX

153074050

-
5CDS-5UTRENST00000374627ENST00000475140EPHB2chr1

23111569

+PDZD4chrX

153074050

-
intron-3CDSENST00000465676ENST00000164640EPHB2chr1

23111569

+PDZD4chrX

153074050

-
intron-5UTRENST00000465676ENST00000393758EPHB2chr1

23111569

+PDZD4chrX

153074050

-
intron-intronENST00000465676ENST00000544474EPHB2chr1

23111569

+PDZD4chrX

153074050

-
intron-5UTRENST00000465676ENST00000475140EPHB2chr1

23111569

+PDZD4chrX

153074050

-

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FusionProtFeatures for EPHB2_PDZD4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPHB2

P29323

PDZD4

Q76G19

Receptor tyrosine kinase which binds promiscuouslytransmembrane ephrin-B 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. Functions in axon guidance during development. Involvedin the guidance of commissural axons, that form a majorinterhemispheric connection between the 2 temporal lobes of thecerebral cortex. Also involved in guidance of contralateral innerear efferent growth cones at the midline and of retinal ganglioncell axons to the optic disk. In addition to axon guidance, alsoregulates dendritic spines development and maturation andstimulates the formation of excitatory synapses. Upon activationby EFNB1, abolishes the ARHGEF15-mediated negative regulation onexcitatory synapse formation. Controls other aspects ofdevelopment including angiogenesis, palate development and ininner ear development through regulation of endolymph production.Forward and reverse signaling through the EFNB2/EPHB2 complexregulate movement and adhesion of cells that tubularize theurethra and septate the cloaca. May function as a tumorsuppressor. {ECO:0000269|PubMed:15300251}.

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 EPHB2_PDZD4


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 EPHB2_PDZD4


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
EPHB2SRC, STK26, ACP1, RASA1, RYK, MLLT4, ITSN1, CRK, EPHB2, EFNB2, YES1, PLCG1, ABL1, ABL2, ALK, HMMR, SPSB2, KDM4A, MTMR14PDZD4GFI1B, APP, APIP


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 EPHB2_PDZD4


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 EPHB2_PDZD4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPHB2C0376358Malignant neoplasm of prostate3UNIPROT
HgeneEPHB2C0014474Ependymoma1CTD_human