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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:LAT2-CBLC (FusionGDB2 ID:44198) |
Fusion Gene Summary for LAT2-CBLC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LAT2-CBLC | Fusion gene ID: 44198 | Hgene | Tgene | Gene symbol | LAT2 | CBLC | Gene ID | 23428 | 23624 |
| Gene name | solute carrier family 7 member 8 | Cbl proto-oncogene C | |
| Synonyms | LAT2|LPI-PC1 | CBL-3|CBL-SL|RNF57 | |
| Cytomap | 14q11.2 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | large neutral amino acids transporter small subunit 2L-type amino acid transporter 2integral membrane protein E16Hsolute carrier family 7 (amino acid transporter light chain, L system), member 8solute carrier family 7 (amino acid transporter, L-type), | E3 ubiquitin-protein ligase CBL-CCas-Br-M (murine) ecotropic retroviral transforming sequence cCas-Br-M (murine) ectropic retroviral transforming sequence cCbl proto-oncogene C, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligas | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9GZY6 | Q9ULV8 | |
| Ensembl transtripts involved in fusion gene | ENST00000275635, ENST00000344995, ENST00000398475, ENST00000460943, | ENST00000270279, ENST00000341505, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 7 X 2=56 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(7/56*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: LAT2 [Title/Abstract] AND CBLC [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | LAT2(73638408)-CBLC(45284494), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | LAT2-CBLC seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. LAT2-CBLC seems lost the major protein functional domain in Tgene partner, which is a CGC 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 | LAT2 | GO:0006865 | amino acid transport | 10391915|10574970|15918515 |
| Tgene | CBLC | GO:0006511 | ubiquitin-dependent protein catabolic process | 14661060 |
| Tgene | CBLC | GO:0007175 | negative regulation of epidermal growth factor-activated receptor activity | 10362357 |
| Tgene | CBLC | GO:0016567 | protein ubiquitination | 14661060 |
| Tgene | CBLC | GO:0042059 | negative regulation of epidermal growth factor receptor signaling pathway | 10362357 |
| Tgene | CBLC | GO:0043407 | negative regulation of MAP kinase activity | 10362357 |
| Fusion gene breakpoints across LAT2 (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 CBLC (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 | STAD | TCGA-HU-8238-01A | LAT2 | chr7 | 73638408 | + | CBLC | chr19 | 45284494 | + |
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Fusion Gene ORF analysis for LAT2-CBLC |
| 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 | ENST00000275635 | ENST00000270279 | LAT2 | chr7 | 73638408 | + | CBLC | chr19 | 45284494 | + |
| Frame-shift | ENST00000275635 | ENST00000341505 | LAT2 | chr7 | 73638408 | + | CBLC | chr19 | 45284494 | + |
| Frame-shift | ENST00000344995 | ENST00000270279 | LAT2 | chr7 | 73638408 | + | CBLC | chr19 | 45284494 | + |
| Frame-shift | ENST00000344995 | ENST00000341505 | LAT2 | chr7 | 73638408 | + | CBLC | chr19 | 45284494 | + |
| Frame-shift | ENST00000398475 | ENST00000270279 | LAT2 | chr7 | 73638408 | + | CBLC | chr19 | 45284494 | + |
| Frame-shift | ENST00000398475 | ENST00000341505 | LAT2 | chr7 | 73638408 | + | CBLC | chr19 | 45284494 | + |
| Frame-shift | ENST00000460943 | ENST00000270279 | LAT2 | chr7 | 73638408 | + | CBLC | chr19 | 45284494 | + |
| Frame-shift | ENST00000460943 | ENST00000341505 | LAT2 | chr7 | 73638408 | + | CBLC | chr19 | 45284494 | + |
| 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 LAT2-CBLC |
| 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. |
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Fusion Protein Features for LAT2-CBLC |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:73638408/:45284494) - 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 |
| LAT2 | CBLC |
| FUNCTION: Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2. {ECO:0000269|PubMed:12486104, ECO:0000269|PubMed:12514734, ECO:0000269|PubMed:15010370}. | FUNCTION: Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival. {ECO:0000269|PubMed:10362357, ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:18753381, ECO:0000269|PubMed:20525694, ECO:0000269|PubMed:23145173}. |
| 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 LAT2-CBLC |
| 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 LAT2-CBLC |
| 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 LAT2-CBLC |
| 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 LAT2-CBLC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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