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Fusion gene ID: 40694 |
FusionGeneSummary for UFSP2_EPHA4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UFSP2_EPHA4 | Fusion gene ID: 40694 | Hgene | Tgene | Gene symbol | UFSP2 | EPHA4 | Gene ID | 55325 | 2043 |
| Gene name | UFM1 specific peptidase 2 | EPH receptor A4 | |
| Synonyms | BHD|C4orf20|SEMDDR | EK8|HEK8|SEK|TYRO1 | |
| Cytomap | 4q35.1 | 2q36.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ufm1-specific protease 2 | ephrin type-A receptor 4EPH-like kinase 8TYRO1 protein tyrosine kinasereceptor protein-tyrosine kinase HEK8tyrosine-protein kinase TYRO1tyrosine-protein kinase receptor SEK | |
| Modification date | 20180526 | 20180529 | |
| UniProtAcc | Q9NUQ7 | P54764 | |
| Ensembl transtripts involved in fusion gene | ENST00000264689, ENST00000502282, | ENST00000281821, ENST00000409854, ENST00000409938, ENST00000392071, ENST00000469354, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: UFSP2 [Title/Abstract] AND EPHA4 [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 |
| Tgene | EPHA4 | GO:0018108 | peptidyl-tyrosine phosphorylation | 12775584 |
| Tgene | EPHA4 | GO:0046777 | protein autophosphorylation | 12775584 |
| Tgene | EPHA4 | GO:2001108 | positive regulation of Rho guanyl-nucleotide exchange factor activity | 12775584 |
| 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 |
| TCGA | RV | HNSC | TCGA-T2-A6X0-01A | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| * 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 |
| Frame-shift | ENST00000264689 | ENST00000281821 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| Frame-shift | ENST00000264689 | ENST00000409854 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| Frame-shift | ENST00000264689 | ENST00000409938 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| Frame-shift | ENST00000264689 | ENST00000392071 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| 5CDS-intron | ENST00000264689 | ENST00000469354 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| intron-3CDS | ENST00000502282 | ENST00000281821 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| intron-3CDS | ENST00000502282 | ENST00000409854 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| intron-3CDS | ENST00000502282 | ENST00000409938 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| intron-3CDS | ENST00000502282 | ENST00000392071 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| intron-intron | ENST00000502282 | ENST00000469354 | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
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FusionProtFeatures for UFSP2_EPHA4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UFSP2 | EPHA4 |
| Thiol protease which recognizes and hydrolyzes thepeptide bond at the C-terminal Gly of UFM1, a ubiquitin-likemodifier protein bound to a number of target proteins. Does nothydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4deufmylation may regulate intracellular nuclear receptorstransactivation and thereby regulate cell proliferation anddifferentiation. {ECO:0000269|PubMed:25219498}. | Receptor tyrosine kinase which binds membrane-boundephrin family ligands residing on adjacent cells, leading tocontact-dependent bidirectional signaling into neighboring cells.The signaling pathway downstream of the receptor is referred to asforward signaling while the signaling pathway downstream of theephrin ligand is referred to as reverse signaling. Highlypromiscuous, it has the unique property among Eph receptors tobind and to be physiologically activated by both GPI-anchoredephrin-A and transmembrane ephrin-B ligands including EFNA1 andEFNB3. Upon activation by ephrin ligands, modulates cellmorphology and integrin-dependent cell adhesion through regulationof the Rac, Rap and Rho GTPases activity. Plays an important rolein the development of the nervous system controlling differentsteps of axonal guidance including the establishment of thecorticospinal projections. May also control the segregation ofmotor and sensory axons during neuromuscular circuit development.In addition to its role in axonal guidance plays a role insynaptic plasticity. Activated by EFNA1 phosphorylates CDK5 at'Tyr-15' which in turn phosphorylates NGEF regulating RHOA anddendritic spine morphogenesis. In the nervous system, plays also arole in repair after injury preventing axonal regeneration and inangiogenesis playing a role in central nervous system vascularformation. Additionally, its promiscuity makes it available toparticipate in a variety of cell-cell signaling regulating forinstance the development of the thymic epithelium.{ECO:0000269|PubMed:17143272}. |
| 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 |
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FusionGeneSequence for UFSP2_EPHA4 |
| 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 UFSP2_EPHA4 |
| 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 |
| UFSP2 | LIG4, ASCC1, FAS, HLA-C, CD244, SLAMF1, FAM177A1, SORT1, SYNCRIP, CDHR5, ASIC1, ARFGAP1, AMIGO3, CD79A, KCNJ6, ASIC4, CPD, NAPG, VAT1L, PLXDC2, PCDHA4, KIR3DL2, SIGLEC12, VASN, TMX1, SLC16A11, SIGLEC5, C1orf27 | EPHA4 | ARHGEF15, EFNA1, NGEF, EFNB3, FYN, SRC, IKBKG, RYK, VHL, ANAPC2, FZR1, HSP90AA1, TSPAN3, HLA-DPA1, GPN3, CEACAM21, GNAZ, GNAT2, RIPK3, TUBB2B, TBC1D22A, FGFR1, IARS2, RSPH14, CPA5, TUBB, RFC4, FABP1, CYP1A2, EPHA7, OS9, KLRG2, HDAC10, FAM118B, GBP5, UMPS, ARMC6, MMP26, SLC1A1, TNS3 |
| - 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 |
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RelatedDrugs for UFSP2_EPHA4 |
| 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 |
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RelatedDiseases for UFSP2_EPHA4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | UFSP2 | C1840572 | HIP DYSPLASIA, BEUKES TYPE | 1 | ORPHANET;UNIPROT |
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