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 | 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:LRRC8A-FBLN1 (FusionGDB2 ID:50042) |
Fusion Gene Summary for LRRC8A-FBLN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LRRC8A-FBLN1 | Fusion gene ID: 50042 | Hgene | Tgene | Gene symbol | LRRC8A | FBLN1 | Gene ID | 56262 | 2192 |
| Gene name | leucine rich repeat containing 8 VRAC subunit A | fibulin 1 | |
| Synonyms | AGM5|LRRC8|SWELL1 | FBLN|FIBL1 | |
| Cytomap | 9q34.11 | 22q13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | volume-regulated anion channel subunit LRRC8Aleucine rich repeat containing 8 family member Aleucine-rich repeat-containing protein 8Aswelling protein 1 | fibulin-1 | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | Q8IWT6 | P23142 | |
| Ensembl transtripts involved in fusion gene | ENST00000259324, ENST00000372600, ENST00000372599, ENST00000492784, | ENST00000262722, ENST00000327858, ENST00000340923, ENST00000348697, ENST00000402984, ENST00000442170, ENST00000476366, | |
| Fusion gene scores | * DoF score | 7 X 6 X 4=168 | 22 X 22 X 9=4356 |
| # samples | 7 | 27 | |
| ** MAII score | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(27/4356*10)=-4.01197264166608 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LRRC8A [Title/Abstract] AND FBLN1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | LRRC8A(131648400)-FBLN1(45970390), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | FBLN1 | GO:0001933 | negative regulation of protein phosphorylation | 11792823 |
| Tgene | FBLN1 | GO:0007162 | negative regulation of cell adhesion | 11792823 |
| Tgene | FBLN1 | GO:0007229 | integrin-mediated signaling pathway | 11792823 |
| Tgene | FBLN1 | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 11792823 |
| Tgene | FBLN1 | GO:0072378 | blood coagulation, fibrin clot formation | 7642629 |
| Tgene | FBLN1 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 11792823 |
| Tgene | FBLN1 | GO:2000146 | negative regulation of cell motility | 11792823 |
| Tgene | FBLN1 | GO:2000647 | negative regulation of stem cell proliferation | 11238726 |
| Fusion gene breakpoints across LRRC8A (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 FBLN1 (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 | BLCA | TCGA-DK-A3IL | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
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Fusion Gene ORF analysis for LRRC8A-FBLN1 |
| 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 |
| 5UTR-intron | ENST00000259324 | ENST00000262722 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000259324 | ENST00000327858 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000259324 | ENST00000340923 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000259324 | ENST00000348697 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000259324 | ENST00000402984 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000259324 | ENST00000442170 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000259324 | ENST00000476366 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000372600 | ENST00000262722 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000372600 | ENST00000327858 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000372600 | ENST00000340923 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000372600 | ENST00000348697 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000372600 | ENST00000402984 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000372600 | ENST00000442170 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 5UTR-intron | ENST00000372600 | ENST00000476366 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000372599 | ENST00000262722 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000372599 | ENST00000327858 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000372599 | ENST00000340923 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000372599 | ENST00000348697 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000372599 | ENST00000402984 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000372599 | ENST00000442170 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000372599 | ENST00000476366 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000492784 | ENST00000262722 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000492784 | ENST00000327858 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000492784 | ENST00000340923 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000492784 | ENST00000348697 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000492784 | ENST00000402984 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000492784 | ENST00000442170 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| intron-intron | ENST00000492784 | ENST00000476366 | LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + |
| 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 |
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Fusion Genomic Features for LRRC8A-FBLN1 |
| 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) |
| LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + | 5.45E-07 | 0.9999994 |
| LRRC8A | chr9 | 131648400 | + | FBLN1 | chr22 | 45970390 | + | 5.45E-07 | 0.9999994 |
| 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. |
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Fusion Protein Features for LRRC8A-FBLN1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:131648400/:45970390) - 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 |
| LRRC8A | FBLN1 |
| FUNCTION: Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24725410, PubMed:29769723, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24725410, PubMed:30095067, PubMed:24790029, PubMed:26530471, PubMed:26824658, PubMed:28193731). Mediates efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress (PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). In complex with LRRC8C or LRRC8E, acts as a transporter of immunoreactive cyclic dinucleotide GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol: mediates both import and export of 2'-3'-cGAMP, thereby promoting transfer of 2'-3'-cGAMP to bystander cells (PubMed:33171122). In contrast, complexes containing LRRC8D inhibit transport of 2'-3'-cGAMP (PubMed:33171122). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity). Required for myoblast differentiation: VRAC activity promotes membrane hyperpolarization and regulates insulin-stimulated glucose metabolism and oxygen consumption (By similarity). Also acts as a regulator of glucose-sensing in pancreatic beta cells: VRAC currents, generated in response to hypotonicity- or glucose-induced beta cell swelling, depolarize cells, thereby causing electrical excitation, leading to increase glucose sensitivity and insulin secretion (PubMed:29371604). Also plays a role in lysosome homeostasis by forming functional lysosomal VRAC channels in response to low cytoplasmic ionic strength condition: lysosomal VRAC channels are necessary for the formation of large lysosome-derived vacuoles, which store and then expel excess water to maintain cytosolic water homeostasis (PubMed:31270356, PubMed:33139539). {ECO:0000250|UniProtKB:Q80WG5, ECO:0000269|PubMed:14660746, ECO:0000269|PubMed:24725410, ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26530471, ECO:0000269|PubMed:26824658, ECO:0000269|PubMed:28193731, ECO:0000269|PubMed:29371604, ECO:0000269|PubMed:29769723, ECO:0000269|PubMed:30095067, ECO:0000269|PubMed:31270356, ECO:0000269|PubMed:33139539, ECO:0000269|PubMed:33171122}. | FUNCTION: Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP. {ECO:0000269|PubMed:11792823, ECO:0000269|PubMed:9393974, ECO:0000269|PubMed:9466671}. |
| 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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Fusion Gene Sequence for LRRC8A-FBLN1 |
| 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. |
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Fusion Gene PPI Analysis for LRRC8A-FBLN1 |
| 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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Related Drugs for LRRC8A-FBLN1 |
| 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 |
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Related Diseases for LRRC8A-FBLN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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