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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: 25752

FusionGeneSummary for PACSIN2_EPHB1

check button Fusion gene summary
Fusion gene informationFusion gene name: PACSIN2_EPHB1
Fusion gene ID: 25752
HgeneTgene
Gene symbol

PACSIN2

EPHB1

Gene ID

11252

2047

Gene nameprotein kinase C and casein kinase substrate in neurons 2EPH receptor B1
SynonymsSDPIIELK|EPHT2|Hek6|NET
Cytomap

22q13.2

3q22.2

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C and casein kinase substrate in neurons protein 2cytoplasmic phosphoprotein PACSIN2syndapin-2syndapin-IIsyndapin2ephrin type-B receptor 1EK6EPH-like kinase 6eph tyrosine kinase 2neuronally-expressed EPH-related tyrosine kinasesoluble EPHB1 variant 1tyrosine-protein kinase receptor EPH-2
Modification date2018052320180523
UniProtAcc

Q9UNF0

P54762

Ensembl transtripts involved in fusion geneENST00000337959, ENST00000263246, 
ENST00000407585, ENST00000403744, 
ENST00000402229, 
ENST00000398015, 
ENST00000488154, ENST00000493838, 
Fusion gene scores* DoF score16 X 9 X 8=11524 X 4 X 3=48
# samples 174
** MAII scorelog2(17/1152*10)=-2.76053406530461
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PACSIN2 [Title/Abstract] AND EPHB1 [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
HgenePACSIN2

GO:0097320

plasma membrane tubulation

23596323

TgeneEPHB1

GO:0001525

angiogenesis

9499402

TgeneEPHB1

GO:0031589

cell-substrate adhesion

9430661

TgeneEPHB1

GO:0046328

regulation of JNK cascade

9430661

TgeneEPHB1

GO:0046777

protein autophosphorylation

18034775

TgeneEPHB1

GO:0048013

ephrin receptor signaling pathway

12925710|18034775

TgeneEPHB1

GO:0060326

cell chemotaxis

12925710

TgeneEPHB1

GO:0070372

regulation of ERK1 and ERK2 cascade

12925710|18034775


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
ChiTaRS3.1BE148118PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
* 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-intronENST00000337959ENST00000398015PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000337959ENST00000488154PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000337959ENST00000493838PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000263246ENST00000398015PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000263246ENST00000488154PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000263246ENST00000493838PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000407585ENST00000398015PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000407585ENST00000488154PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000407585ENST00000493838PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000403744ENST00000398015PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000403744ENST00000488154PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000403744ENST00000493838PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000402229ENST00000398015PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000402229ENST00000488154PACSIN2chr22

43382994

+EPHB1chr3

134957527

+
intron-intronENST00000402229ENST00000493838PACSIN2chr22

43382994

+EPHB1chr3

134957527

+

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FusionProtFeatures for PACSIN2_EPHB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PACSIN2

Q9UNF0

EPHB1

P54762

Lipid-binding protein that is able to promote thetubulation of the phosphatidic acid-containing membranes itpreferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surfacereceptors like the EGF receptor, contributing to itsinternalization in the absence of EGF stimulus. May also play arole in the formation of caveolae at the cell membrane. RecruitsDNM2 to caveolae, and thereby plays a role in caveola-mediatedendocytosis. {ECO:0000269|PubMed:21610094,ECO:0000269|PubMed:21693584, ECO:0000269|PubMed:23129763,ECO:0000269|PubMed:23236520, ECO:0000269|PubMed:23596323}. 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. Cognate/functional ephrin ligands for this receptorinclude EFNB1, EFNB2 and EFNB3. During nervous system development,regulates retinal axon guidance redirecting ipsilaterallyventrotemporal retinal ganglion cells axons at the optic chiasmmidline. This probably requires repulsive interaction with EFNB2.In the adult nervous system together with EFNB3, regulateschemotaxis, proliferation and polarity of the hippocampus neuralprogenitors. In addition to its role in axon guidance plays alsoan important redundant role with other ephrin-B receptors indevelopment and maturation of dendritic spines and synapseformation. May also regulate angiogenesis. More generally, mayplay a role in targeted cell migration and adhesion. Uponactivation by EFNB1 and probably other ephrin-B ligands activatesthe MAPK/ERK and the JNK signaling cascades to regulate cellmigration and adhesion respectively. Involved in the maintenanceof the pool of satellite cells (muscle stem cells) by promotingtheir self-renewal and reducing their activation anddifferentiation (By similarity). {ECO:0000250|UniProtKB:Q8CBF3,ECO:0000269|PubMed:12223469, ECO:0000269|PubMed:12925710,ECO:0000269|PubMed:18034775, ECO:0000269|PubMed:9430661,ECO:0000269|PubMed:9499402}.

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 PACSIN2_EPHB1


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 PACSIN2_EPHB1


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 PACSIN2_EPHB1


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 PACSIN2_EPHB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePACSIN2C3495559Juvenile arthritis1CTD_human