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Fusion Protein:ELAVL1-BSG |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ELAVL1-BSG | FusionPDB ID: 26135 | FusionGDB2.0 ID: 26135 | Hgene | Tgene | Gene symbol | ELAVL1 | BSG | Gene ID | 1994 | 682 |
| Gene name | ELAV like RNA binding protein 1 | basigin (Ok blood group) | |
| Synonyms | ELAV1|HUR|Hua|MelG | 5F7|CD147|EMMPRIN|EMPRIN|OK|SLC7A11|TCSF | |
| Cytomap | 19p13.2 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ELAV-like protein 1ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)Hu antigen Rembryonic lethal, abnormal vision, drosophila, homolog-like 1hu-antigen R | basiginOK blood group antigencollagenase stimulatory factorextracellular matrix metalloproteinase inducerleukocyte activation antigen M6tumor cell-derived collagenase stimulatory factor | |
| Modification date | 20200313 | 20200315 | |
| UniProtAcc | Q15717 | P35613 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000351593, ENST00000407627, ENST00000593807, ENST00000596459, | ENST00000333511, ENST00000353555, ENST00000545507, ENST00000574970, ENST00000346916, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 4 X 4 X 4=64 | 9 X 12 X 6=648 |
| # samples | 4 | 14 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/648*10)=-2.21056698593966 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ELAVL1 [Title/Abstract] AND BSG [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ELAVL1(8045966)-BSG(580378), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ELAVL1-BSG seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ELAVL1-BSG seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ELAVL1-BSG seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ELAVL1-BSG seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ELAVL1-BSG seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ELAVL1-BSG seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ELAVL1-BSG seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ELAVL1-BSG 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 |
| Hgene | ELAVL1 | GO:0045727 | positive regulation of translation | 21613615 |
| Hgene | ELAVL1 | GO:0048255 | mRNA stabilization | 21613615|31358969 |
| Hgene | ELAVL1 | GO:0051260 | protein homooligomerization | 26595526 |
| Hgene | ELAVL1 | GO:0070935 | 3'-UTR-mediated mRNA stabilization | 14517288|26489465|29180010 |
| Fusion gene breakpoints across ELAVL1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across BSG (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 | ESCA | TCGA-L5-A8NV | ELAVL1 | chr19 | 8045966 | - | BSG | chr19 | 580378 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000407627 | ELAVL1 | chr19 | 8045966 | - | ENST00000346916 | BSG | chr19 | 580378 | + | 1741 | 406 | 461 | 991 | 176 |
| 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 |
| ENST00000407627 | ENST00000346916 | ELAVL1 | chr19 | 8045966 | - | BSG | chr19 | 580378 | + | 0.002797107 | 0.9972029 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >26135_26135_1_ELAVL1-BSG_ELAVL1_chr19_8045966_ENST00000407627_BSG_chr19_580378_ENST00000346916_length(amino acids)=176AA_BP= MGTANIQLHGPPRVKAVKSSEHINEGETAMLVCKSESVPPVTDWAWYKITDSEDKALMNGSESRFFVSSSQGRSELHIENLNMEADPGQY -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:8045966/chr19:580378) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ELAVL1 | BSG |
| FUNCTION: RNA-binding protein that binds to the 3'-UTR region of mRNAs and increases their stability (PubMed:14517288, PubMed:18285462, PubMed:31358969). Involved in embryonic stem cells (ESCs) differentiation: preferentially binds mRNAs that are not methylated by N6-methyladenosine (m6A), stabilizing them, promoting ESCs differentiation (By similarity). Binds to poly-U elements and AU-rich elements (AREs) in the 3'-UTR of target mRNAs (PubMed:8626503, PubMed:17632515, PubMed:18285462, PubMed:23519412, PubMed:14731398). Binds avidly to the AU-rich element in FOS and IL3/interleukin-3 mRNAs. In the case of the FOS AU-rich element, binds to a core element of 27 nucleotides that contain AUUUA, AUUUUA, and AUUUUUA motifs. Binds preferentially to the 5'-UUUU[AG]UUU-3' motif in vitro (PubMed:8626503). With ZNF385A, binds the 3'-UTR of p53/TP53 mRNA to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti-proliferative activity. May also bind with ZNF385A the CCNB1 mRNA (By similarity). Increases the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3' UTR (PubMed:29180010). {ECO:0000250|UniProtKB:P70372, ECO:0000269|PubMed:14517288, ECO:0000269|PubMed:14731398, ECO:0000269|PubMed:17632515, ECO:0000269|PubMed:18285462, ECO:0000269|PubMed:19029303, ECO:0000269|PubMed:23519412, ECO:0000269|PubMed:29180010, ECO:0000269|PubMed:31358969, ECO:0000269|PubMed:8626503}. | FUNCTION: [Isoform 1]: Essential for normal retinal maturation and development (By similarity). Acts as a retinal cell surface receptor for NXNL1 and plays an important role in NXNL1-mediated survival of retinal cone photoreceptors (PubMed:25957687). In association with glucose transporter SLC16A1/GLUT1 and NXNL1, promotes retinal cone survival by enhancing aerobic glycolysis and accelerating the entry of glucose into photoreceptors (PubMed:25957687). May act as a potent stimulator of IL6 secretion in multiple cell lines that include monocytes (PubMed:21620857). {ECO:0000250|UniProtKB:P18572, ECO:0000269|PubMed:21620857, ECO:0000269|PubMed:25957687}.; FUNCTION: [Isoform 2]: Signaling receptor for cyclophilins, essential for PPIA/CYPA and PPIB/CYPB-dependent signaling related to chemotaxis and adhesion of immune cells (PubMed:11943775, PubMed:11688976). Plays an important role in targeting monocarboxylate transporters SLC16A1/GLUT1, SLC16A11 and SLC16A12 to the plasma membrane (PubMed:17127621, PubMed:21778275, PubMed:28666119). Acts as a coreceptor for vascular endothelial growth factor receptor 2 (KDR/VEGFR2) in endothelial cells enhancing its VEGFA-mediated activation and downstream signaling (PubMed:25825981). Promotes angiogenesis through EPAS1/HIF2A-mediated up-regulation of VEGFA (isoform VEGF-165 and VEGF-121) and KDR/VEGFR2 in endothelial cells (PubMed:19837976). Plays a key role in regulating tumor growth, invasion, metastasis and neoangiogenesis by stimulating the production and release of extracellular matrix metalloproteinases and KDR/VEGFR2 by both tumor cells and stromal cells (fibroblasts and endothelial cells) (PubMed:12553375, PubMed:11992541, PubMed:15833850). {ECO:0000269|PubMed:11688976, ECO:0000269|PubMed:11943775, ECO:0000269|PubMed:11992541, ECO:0000269|PubMed:12553375, ECO:0000269|PubMed:15833850, ECO:0000269|PubMed:17127621, ECO:0000269|PubMed:19837976, ECO:0000269|PubMed:21778275, ECO:0000269|PubMed:25825981, ECO:0000269|PubMed:28666119}.; FUNCTION: [Isoform 1]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7 and Dd2. {ECO:0000269|PubMed:22080952}.; FUNCTION: [Isoform 2]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7, Dd2, 7G8 and HB3 (PubMed:22080952, PubMed:26195724). Binding of P.falciparum RH5 results in BSG dimerization which triggers an increase in intracellular Ca(2+) in the erythrocyte (PubMed:28409866). This essential step leads to a rearrangement of the erythrocyte cytoskeleton required for the merozoite invasion (PubMed:28409866). {ECO:0000269|PubMed:22080952, ECO:0000269|PubMed:26195724, ECO:0000269|PubMed:28409866}.; FUNCTION: [Isoform 2]: (Microbial infection) Can facilitate human SARS coronavirus (SARS-CoV-1) infection via its interaction with virus-associated PPIA/CYPA. {ECO:0000269|PubMed:15688292}.; FUNCTION: [Isoform 2]: (Microbial infection) Can facilitate HIV-1 infection via its interaction with virus-associated PPIA/CYPA. {ECO:0000269|PubMed:11353871}.; FUNCTION: [Isoform 2]: (Microbial infection) First described as a receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), it is not required for SARS-CoV-2 infection. {ECO:0000269|PubMed:33432067, ECO:0000303|PubMed:32307653}.; FUNCTION: [Isoform 2]: (Microbial infection) Acts as a receptor for measles virus. {ECO:0000269|PubMed:20147391}.; FUNCTION: [Isoform 2]: (Microbial infection) Promotes entry of pentamer-expressing human cytomegalovirus (HCMV) into epithelial and endothelial cells. {ECO:0000269|PubMed:29739904}. |
| 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. |
| - 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 |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000333511 | 2 | 9 | 356_359 | 190.66666666666666 | 587.3333333333334 | Compositional bias | Note=Poly-Asp | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000346916 | 0 | 7 | 356_359 | 10.666666666666666 | 359.6666666666667 | Compositional bias | Note=Poly-Asp | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000353555 | 1 | 8 | 356_359 | 74.66666666666667 | 476.6666666666667 | Compositional bias | Note=Poly-Asp | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000545507 | 1 | 8 | 356_359 | 0 | 333.3333333333333 | Compositional bias | Note=Poly-Asp | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000333511 | 2 | 9 | 221_315 | 190.66666666666666 | 587.3333333333334 | Domain | Ig-like V-type | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000346916 | 0 | 7 | 138_219 | 10.666666666666666 | 359.6666666666667 | Domain | Ig-like C2-type | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000346916 | 0 | 7 | 221_315 | 10.666666666666666 | 359.6666666666667 | Domain | Ig-like V-type | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000346916 | 0 | 7 | 37_120 | 10.666666666666666 | 359.6666666666667 | Domain | Ig-like | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000353555 | 1 | 8 | 138_219 | 74.66666666666667 | 476.6666666666667 | Domain | Ig-like C2-type | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000353555 | 1 | 8 | 221_315 | 74.66666666666667 | 476.6666666666667 | Domain | Ig-like V-type | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000545507 | 1 | 8 | 138_219 | 0 | 333.3333333333333 | Domain | Ig-like C2-type | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000545507 | 1 | 8 | 221_315 | 0 | 333.3333333333333 | Domain | Ig-like V-type | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000545507 | 1 | 8 | 37_120 | 0 | 333.3333333333333 | Domain | Ig-like | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000333511 | 2 | 9 | 345_385 | 190.66666666666666 | 587.3333333333334 | Topological domain | Cytoplasmic | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000346916 | 0 | 7 | 138_323 | 10.666666666666666 | 359.6666666666667 | Topological domain | Extracellular | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000346916 | 0 | 7 | 345_385 | 10.666666666666666 | 359.6666666666667 | Topological domain | Cytoplasmic | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000353555 | 1 | 8 | 138_323 | 74.66666666666667 | 476.6666666666667 | Topological domain | Extracellular | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000353555 | 1 | 8 | 345_385 | 74.66666666666667 | 476.6666666666667 | Topological domain | Cytoplasmic | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000545507 | 1 | 8 | 138_323 | 0 | 333.3333333333333 | Topological domain | Extracellular | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000545507 | 1 | 8 | 345_385 | 0 | 333.3333333333333 | Topological domain | Cytoplasmic | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000333511 | 2 | 9 | 324_344 | 190.66666666666666 | 587.3333333333334 | Transmembrane | Helical | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000346916 | 0 | 7 | 324_344 | 10.666666666666666 | 359.6666666666667 | Transmembrane | Helical | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000353555 | 1 | 8 | 324_344 | 74.66666666666667 | 476.6666666666667 | Transmembrane | Helical | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000545507 | 1 | 8 | 324_344 | 0 | 333.3333333333333 | Transmembrane | Helical |
| - 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 |
| Hgene | ELAVL1 | chr19:8045966 | chr19:580378 | ENST00000407627 | - | 3 | 6 | 106_186 | 92.0 | 327.0 | Domain | RRM 2 |
| Hgene | ELAVL1 | chr19:8045966 | chr19:580378 | ENST00000407627 | - | 3 | 6 | 20_98 | 92.0 | 327.0 | Domain | RRM 1 |
| Hgene | ELAVL1 | chr19:8045966 | chr19:580378 | ENST00000407627 | - | 3 | 6 | 244_322 | 92.0 | 327.0 | Domain | RRM 3 |
| Hgene | ELAVL1 | chr19:8045966 | chr19:580378 | ENST00000596459 | - | 3 | 6 | 106_186 | 92.0 | 327.0 | Domain | RRM 2 |
| Hgene | ELAVL1 | chr19:8045966 | chr19:580378 | ENST00000596459 | - | 3 | 6 | 20_98 | 92.0 | 327.0 | Domain | RRM 1 |
| Hgene | ELAVL1 | chr19:8045966 | chr19:580378 | ENST00000596459 | - | 3 | 6 | 244_322 | 92.0 | 327.0 | Domain | RRM 3 |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000333511 | 2 | 9 | 138_219 | 190.66666666666666 | 587.3333333333334 | Domain | Ig-like C2-type | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000333511 | 2 | 9 | 37_120 | 190.66666666666666 | 587.3333333333334 | Domain | Ig-like | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000353555 | 1 | 8 | 37_120 | 74.66666666666667 | 476.6666666666667 | Domain | Ig-like | |
| Tgene | BSG | chr19:8045966 | chr19:580378 | ENST00000333511 | 2 | 9 | 138_323 | 190.66666666666666 | 587.3333333333334 | Topological domain | Extracellular |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| ELAVL1 | |
| BSG |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to ELAVL1-BSG |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ELAVL1-BSG |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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