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Fusion gene ID: 31022 |
FusionGeneSummary for RFC1_TEK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RFC1_TEK | Fusion gene ID: 31022 | Hgene | Tgene | Gene symbol | RFC1 | TEK | Gene ID | 6573 | 7010 |
| Gene name | solute carrier family 19 member 1 | TEK receptor tyrosine kinase | |
| Synonyms | CHMD|FOLT|IFC-1|IFC1|REFC|RFC|RFC1 | CD202B|GLC3E|TIE-2|TIE2|VMCM|VMCM1 | |
| Cytomap | 21q22.3 | 9p21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | folate transporter 1intestinal folate carrier 1placental folate transporterreduced folate carrier 1reduced folate carrier proteinsolute carrier family 19 (folate transporter), member 1 | angiopoietin-1 receptorTEK tyrosine kinase, endothelialendothelial tyrosine kinasetunica interna endothelial cell kinasetyrosine kinase with Ig and EGF homology domains-2tyrosine-protein kinase receptor TEKtyrosine-protein kinase receptor TIE-2 | |
| Modification date | 20180527 | 20180525 | |
| UniProtAcc | P35251 | Q02763 | |
| Ensembl transtripts involved in fusion gene | ENST00000349703, ENST00000381897, ENST00000418436, | ENST00000519097, ENST00000380036, ENST00000406359, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 3 X 3 X 2=18 |
| # samples | 7 | 5 | |
| ** MAII score | log2(7/100*10)=-0.514573172829758 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/18*10)=1.47393118833241 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RFC1 [Title/Abstract] AND TEK [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 | RFC1 | GO:0098838 | folate transmembrane transport | 14609557 |
| Tgene | TEK | GO:0001934 | positive regulation of protein phosphorylation | 15284220 |
| Tgene | TEK | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 15284220 |
| Tgene | TEK | GO:0010595 | positive regulation of endothelial cell migration | 15284220 |
| Tgene | TEK | GO:0018108 | peptidyl-tyrosine phosphorylation | 11513602 |
| Tgene | TEK | GO:0045766 | positive regulation of angiogenesis | 15284220 |
| Tgene | TEK | GO:0046777 | protein autophosphorylation | 11513602 |
| Tgene | TEK | GO:0048014 | Tie signaling pathway | 15284220|19223473 |
| Tgene | TEK | GO:0051259 | protein complex oligomerization | 19424712 |
| Tgene | TEK | GO:0051897 | positive regulation of protein kinase B signaling | 19615361 |
| Tgene | TEK | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 19615361 |
| 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 | AI760472 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - | ||
| ChiTaRS3.1 | BF002128 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - | ||
| ChiTaRS3.1 | BF594294 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
| * 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-5UTR | ENST00000349703 | ENST00000519097 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
| intron-5UTR | ENST00000349703 | ENST00000380036 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
| intron-5UTR | ENST00000349703 | ENST00000406359 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
| intron-5UTR | ENST00000381897 | ENST00000519097 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
| intron-5UTR | ENST00000381897 | ENST00000380036 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
| intron-5UTR | ENST00000381897 | ENST00000406359 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
| intron-5UTR | ENST00000418436 | ENST00000519097 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
| intron-5UTR | ENST00000418436 | ENST00000380036 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
| intron-5UTR | ENST00000418436 | ENST00000406359 | RFC1 | chr4 | 39310592 | + | TEK | chr9 | 27109556 | - |
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FusionProtFeatures for RFC1_TEK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RFC1 | TEK |
| The elongation of primed DNA templates by DNA polymerasedelta and epsilon requires the action of the accessory proteinsPCNA and activator 1. This subunit binds to the primer-templatejunction. Binds the PO-B transcription element as well as other GArich DNA sequences. Could play a role in DNA transcriptionregulation as well as DNA replication and/or repair. Can bindsingle- or double-stranded DNA. {ECO:0000269|PubMed:8999859}. Interacts with C-terminus of PCNA. 5' phosphate residueis required for binding of the N-terminal DNA-binding domain toduplex DNA, suggesting a role in recognition of non-primertemplate DNA structures during replication and/or repair.{ECO:0000269|PubMed:8999859}. | Tyrosine-protein kinase that acts as cell-surfacereceptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis,endothelial cell survival, proliferation, migration, adhesion andcell spreading, reorganization of the actin cytoskeleton, but alsomaintenance of vascular quiescence. Has anti-inflammatory effectsby preventing the leakage of proinflammatory plasma proteins andleukocytes from blood vessels. Required for normal angiogenesisand heart development during embryogenesis. Required for post-natal hematopoiesis. After birth, activates or inhibitsangiogenesis, depending on the context. Inhibits angiogenesis andpromotes vascular stability in quiescent vessels, whereendothelial cells have tight contacts. In quiescent vessels,ANGPT1 oligomers recruit TEK to cell-cell contacts, formingcomplexes with TEK molecules from adjoining cells, and this leadsto preferential activation of phosphatidylinositol 3-kinase andthe AKT1 signaling cascades. In migrating endothelial cells thatlack cell-cell adhesions, ANGT1 recruits TEK to contacts with theextracellular matrix, leading to the formation of focal adhesioncomplexes, activation of PTK2/FAK and of the downstream kinasesMAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation ofsprouting angiogenesis. ANGPT1 signaling triggers receptordimerization and autophosphorylation at specific tyrosine residuesthat then serve as binding sites for scaffold proteins andeffectors. Signaling is modulated by ANGPT2 that has loweraffinity for TEK, can promote TEK autophosphorylation in theabsence of ANGPT1, but inhibits ANGPT1-mediated signaling bycompeting for the same binding site. Signaling is also modulatedby formation of heterodimers with TIE1, and by proteolyticprocessing that gives rise to a soluble TEK extracellular domain.The soluble extracellular domain modulates signaling byfunctioning as decoy receptor for angiopoietins. TEKphosphorylates DOK2, GRB7, GRB14, PIK3R1; SHC1 and TIE1.{ECO:0000269|PubMed:12816861, ECO:0000269|PubMed:14665640,ECO:0000269|PubMed:15284220, ECO:0000269|PubMed:15851516,ECO:0000269|PubMed:18366015, ECO:0000269|PubMed:18425119,ECO:0000269|PubMed:18425120, ECO:0000269|PubMed:19223473,ECO:0000269|PubMed:20651738, ECO:0000269|PubMed:9204896}. |
| 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 RFC1_TEK |
| 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 RFC1_TEK |
| 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 |
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RelatedDrugs for RFC1_TEK |
| 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 |
| Tgene | TEK | Q02763 | DB05294 | Vandetanib | Angiopoietin-1 receptor | small molecule | approved |
| Tgene | TEK | Q02763 | DB08896 | Regorafenib | Angiopoietin-1 receptor | small molecule | approved |
| Tgene | TEK | Q02763 | DB08901 | Ponatinib | Angiopoietin-1 receptor | small molecule | approved|investigational |
| Tgene | TEK | Q02763 | DB00415 | Ampicillin | Angiopoietin-1 receptor | small molecule | approved|vet_approved |
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RelatedDiseases for RFC1_TEK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RFC1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | RFC1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | RFC1 | C0029463 | Osteosarcoma | 1 | CTD_human |
| Tgene | TEK | C0014556 | Epilepsy, Temporal Lobe | 1 | CTD_human |
| Tgene | TEK | C0018923 | Hemangiosarcoma | 1 | CTD_human |
| Tgene | TEK | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| Tgene | TEK | C0027686 | Pathologic Neovascularization | 1 | CTD_human |
| Tgene | TEK | C1838437 | VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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