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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: 29243

FusionGeneSummary for PSPH_EFNB2

check button Fusion gene summary
Fusion gene informationFusion gene name: PSPH_EFNB2
Fusion gene ID: 29243
HgeneTgene
Gene symbol

PSPH

EFNB2

Gene ID

5723

1948

Gene namephosphoserine phosphataseephrin B2
SynonymsPSP|PSPHDEPLG5|HTKL|Htk-L|LERK5
Cytomap

7p11.2

13q33.3

Type of geneprotein-codingprotein-coding
Descriptionphosphoserine phosphataseL-3-phosphoserine phosphataseO-phosphoserine phosphohydrolasePSPaseephrin-B2HTK ligandLERK-5eph-related receptor tyrosine kinase ligand 5ligand of eph-related kinase 5
Modification date2018052320180523
UniProtAcc

P78330

P52799

Ensembl transtripts involved in fusion geneENST00000275605, ENST00000395471, 
ENST00000459834, 
ENST00000245323, 
Fusion gene scores* DoF score7 X 9 X 2=1263 X 4 X 1=12
# samples 115
** MAII scorelog2(11/126*10)=-0.195920209975257
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/12*10)=2.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PSPH [Title/Abstract] AND EFNB2 [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
HgenePSPH

GO:0006563

L-serine metabolic process

15291819

TgeneEFNB2

GO:0002042

cell migration involved in sprouting angiogenesis

12734395

TgeneEFNB2

GO:0007155

cell adhesion

12734395

TgeneEFNB2

GO:0010977

negative regulation of neuron projection development

10066262

TgeneEFNB2

GO:0048013

ephrin receptor signaling pathway

12734395

TgeneEFNB2

GO:0050920

regulation of chemotaxis

12734395

TgeneEFNB2

GO:1901216

positive regulation of neuron death

10066262


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
ChiTaRS3.1BE766917PSPHchr7

56078961

+EFNB2chr13

107163894

+
ChiTaRS3.1BE766933PSPHchr7

56078961

+EFNB2chr13

107163894

+
* 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-intronENST00000275605ENST00000245323PSPHchr7

56078961

+EFNB2chr13

107163894

+
intron-intronENST00000395471ENST00000245323PSPHchr7

56078961

+EFNB2chr13

107163894

+
intron-intronENST00000459834ENST00000245323PSPHchr7

56078961

+EFNB2chr13

107163894

+

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FusionProtFeatures for PSPH_EFNB2


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

P78330

EFNB2

P52799

Catalyzes the last step in the biosynthesis of serinefrom carbohydrates. The reaction mechanism proceeds via theformation of a phosphoryl-enzyme intermediates.{ECO:0000269|PubMed:12777757}. Cell surface transmembrane ligand for Eph receptors, afamily of receptor tyrosine kinases which are crucial formigration, repulsion and adhesion during neuronal, vascular andepithelial development. Binds promiscuously Eph receptors residingon adjacent cells, leading to contact-dependent bidirectionalsignaling into neighboring cells. The signaling pathway downstreamof the receptor is referred to as forward signaling while thesignaling pathway downstream of the ephrin ligand is referred toas reverse signaling. Binds to receptor tyrosine kinase includingEPHA4, EPHA3 and EPHB4. Together with EPHB4 plays a central rolein heart morphogenesis and angiogenesis through regulation of celladhesion and cell migration. EPHB4-mediated forward signalingcontrols cellular repulsion and segregation from EFNB2-expressingcells. May play a role in constraining the orientation oflongitudinally projecting axons. {ECO:0000269|PubMed:12734395}. (Microbial infection) Acts as a receptor for Hendravirus and Nipah virus. {ECO:0000269|PubMed:15998730,ECO:0000269|PubMed:16007075, ECO:0000269|PubMed:16477309,ECO:0000269|PubMed:17376907}.

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 PSPH_EFNB2


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 PSPH_EFNB2


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 PSPH_EFNB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePSPHP78330DB01593ZincPhosphoserine phosphatasesmall moleculeapproved|investigational

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RelatedDiseases for PSPH_EFNB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSPHC0002514Amino Acid Metabolism, Inborn Errors1CTD_human
HgenePSPHC1291463Deficiency of phosphoserine phosphatase1ORPHANET;UNIPROT
TgeneEFNB2C0023903Liver neoplasms1CTD_human
TgeneEFNB2C0032927Precancerous Conditions1CTD_human
TgeneEFNB2C0035126Reperfusion Injury1CTD_human
TgeneEFNB2C0036341Schizophrenia1PSYGENET