|
Fusion gene ID: 25752 |
FusionGeneSummary for PACSIN2_EPHB1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PACSIN2_EPHB1 | Fusion gene ID: 25752 | Hgene | Tgene | Gene symbol | PACSIN2 | EPHB1 | Gene ID | 11252 | 2047 |
Gene name | protein kinase C and casein kinase substrate in neurons 2 | EPH receptor B1 | |
Synonyms | SDPII | ELK|EPHT2|Hek6|NET | |
Cytomap | 22q13.2 | 3q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | protein kinase C and casein kinase substrate in neurons protein 2cytoplasmic phosphoprotein PACSIN2syndapin-2syndapin-IIsyndapin2 | ephrin type-B receptor 1EK6EPH-like kinase 6eph tyrosine kinase 2neuronally-expressed EPH-related tyrosine kinasesoluble EPHB1 variant 1tyrosine-protein kinase receptor EPH-2 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9UNF0 | P54762 | |
Ensembl transtripts involved in fusion gene | ENST00000337959, ENST00000263246, ENST00000407585, ENST00000403744, ENST00000402229, | ENST00000398015, ENST00000488154, ENST00000493838, | |
Fusion gene scores | * DoF score | 16 X 9 X 8=1152 | 4 X 4 X 3=48 |
# samples | 17 | 4 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PACSIN2 | GO:0097320 | plasma membrane tubulation | 23596323 |
Tgene | EPHB1 | GO:0001525 | angiogenesis | 9499402 |
Tgene | EPHB1 | GO:0031589 | cell-substrate adhesion | 9430661 |
Tgene | EPHB1 | GO:0046328 | regulation of JNK cascade | 9430661 |
Tgene | EPHB1 | GO:0046777 | protein autophosphorylation | 18034775 |
Tgene | EPHB1 | GO:0048013 | ephrin receptor signaling pathway | 12925710|18034775 |
Tgene | EPHB1 | GO:0060326 | cell chemotaxis | 12925710 |
Tgene | EPHB1 | GO:0070372 | regulation of ERK1 and ERK2 cascade | 12925710|18034775 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BE148118 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000337959 | ENST00000398015 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000337959 | ENST00000488154 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000337959 | ENST00000493838 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000263246 | ENST00000398015 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000263246 | ENST00000488154 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000263246 | ENST00000493838 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000407585 | ENST00000398015 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000407585 | ENST00000488154 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000407585 | ENST00000493838 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000403744 | ENST00000398015 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000403744 | ENST00000488154 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000403744 | ENST00000493838 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000402229 | ENST00000398015 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000402229 | ENST00000488154 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
intron-intron | ENST00000402229 | ENST00000493838 | PACSIN2 | chr22 | 43382994 | + | EPHB1 | chr3 | 134957527 | + |
Top |
FusionProtFeatures for PACSIN2_EPHB1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PACSIN2 | EPHB1 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for PACSIN2_EPHB1 |
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). |
Top |
FusionGenePPI for PACSIN2_EPHB1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for PACSIN2_EPHB1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PACSIN2_EPHB1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PACSIN2 | C3495559 | Juvenile arthritis | 1 | CTD_human |