|
||||||
|
 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:UFSP2-EPHA4 (FusionGDB2 ID:95959) |
Fusion Gene Summary for UFSP2-EPHA4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UFSP2-EPHA4 | Fusion gene ID: 95959 | 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 | 20200313 | 20200313 | |
| UniProtAcc | . | P54764 | |
| Ensembl transtripts involved in fusion gene | ENST00000264689, ENST00000502282, | ENST00000281821, ENST00000409854, ENST00000409938, ENST00000392071, ENST00000469354, | |
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 3 X 3 X 2=18 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/144*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: UFSP2 [Title/Abstract] AND EPHA4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | UFSP2(186347020)-EPHA4(222365892), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | UFSP2-EPHA4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. UFSP2-EPHA4 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF. UFSP2-EPHA4 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. UFSP2-EPHA4 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * 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 breakpoints across UFSP2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across EPHA4 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | HNSC | TCGA-T2-A6X0-01A | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
| ChimerDB4 | HNSC | TCGA-T2-A6X0-01A | UFSP2 | chr4 | 186347020 | - | EPHA4 | chr2 | 222365892 | - |
Top |
Fusion Gene ORF analysis for UFSP2-EPHA4 |
| 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 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for UFSP2-EPHA4 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
Top |
Fusion Protein Features for UFSP2-EPHA4 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | EPHA4 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI-anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3. Upon activation by ephrin ligands, modulates cell morphology and integrin-dependent cell adhesion through regulation of the Rac, Rap and Rho GTPases activity. Plays an important role in the development of the nervous system controlling different steps of axonal guidance including the establishment of the corticospinal projections. May also control the segregation of motor and sensory axons during neuromuscular circuit development. In addition to its role in axonal guidance plays a role in synaptic plasticity. Activated by EFNA1 phosphorylates CDK5 at 'Tyr-15' which in turn phosphorylates NGEF regulating RHOA and dendritic spine morphogenesis. In the nervous system, plays also a role in repair after injury preventing axonal regeneration and in angiogenesis playing a role in central nervous system vascular formation. Additionally, its promiscuity makes it available to participate in a variety of cell-cell signaling regulating for instance the development of the thymic epithelium. During development of the cochlear organ of Corti, regulates pillar cell separation by forming a ternary complex with ADAM10 and CADH1 which facilitates the cleavage of CADH1 by ADAM10 and disruption of adherens junctions (By similarity). {ECO:0000250|UniProtKB:Q03137, 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 |
Top |
Fusion Gene Sequence for UFSP2-EPHA4 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
Top |
Fusion Gene PPI Analysis 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 |
| - 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 |
Related Drugs for UFSP2-EPHA4 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | EPHA4 | P54764 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | EPHA4 | P54764 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | EPHA4 | P54764 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | EPHA4 | P54764 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Top |
Related Diseases 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 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | UFSP2 | C4693799 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE | 1 | UNIPROT |
| Tgene | EPHA4 | C0002736 | Amyotrophic Lateral Sclerosis | 1 | ORPHANET |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies