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Fusion Protein:LPL-ASAH1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: LPL-ASAH1 | FusionPDB ID: 49545 | FusionGDB2.0 ID: 49545 | Hgene | Tgene | Gene symbol | LPL | ASAH1 | Gene ID | 4023 | 427 |
| Gene name | lipoprotein lipase | N-acylsphingosine amidohydrolase 1 | |
| Synonyms | HDLCQ11|LIPD | AC|ACDase|ASAH|PHP|PHP32|SMAPME | |
| Cytomap | 8p21.3 | 8p22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lipoprotein lipase | acid ceramidaseN-acylethanolamine hydrolase ASAH1N-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart protein | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | P06858 | Q13510 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000311322, ENST00000521994, | ENST00000520051, ENST00000381733, ENST00000262097, ENST00000314146, ENST00000417108, ENST00000520781, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 2 X 2 X 2=8 | 13 X 10 X 8=1040 |
| # samples | 2 | 16 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(16/1040*10)=-2.70043971814109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: LPL [Title/Abstract] AND ASAH1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | LPL(19813594)-ASAH1(17915132), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | LPL-ASAH1 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. LPL-ASAH1 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. LPL-ASAH1 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. LPL-ASAH1 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. LPL-ASAH1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. LPL-ASAH1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. LPL-ASAH1 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 | LPL | GO:0006631 | fatty acid metabolic process | 11342582|27578112 |
| Hgene | LPL | GO:0006633 | fatty acid biosynthetic process | 182536 |
| Hgene | LPL | GO:0019433 | triglyceride catabolic process | 182536|2110364|2340307|3973011|11342582|27578112|30559189 |
| Hgene | LPL | GO:0034372 | very-low-density lipoprotein particle remodeling | 3973011 |
| Tgene | ASAH1 | GO:0046512 | sphingosine biosynthetic process | 12815059 |
| Tgene | ASAH1 | GO:0046513 | ceramide biosynthetic process | 12764132|12815059 |
| Tgene | ASAH1 | GO:0046514 | ceramide catabolic process | 12815059 |
| Fusion gene breakpoints across LPL (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 ASAH1 (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 | THCA | TCGA-H2-A2K9 | LPL | chr8 | 19813594 | + | ASAH1 | chr8 | 17915132 | - |
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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) |
| ENST00000311322 | LPL | chr8 | 19813594 | + | ENST00000262097 | ASAH1 | chr8 | 17915132 | - | 2687 | 1488 | 323 | 1558 | 411 |
| ENST00000311322 | LPL | chr8 | 19813594 | + | ENST00000417108 | ASAH1 | chr8 | 17915132 | - | 2660 | 1488 | 323 | 1558 | 411 |
| ENST00000311322 | LPL | chr8 | 19813594 | + | ENST00000520781 | ASAH1 | chr8 | 17915132 | - | 2660 | 1488 | 323 | 1558 | 411 |
| ENST00000311322 | LPL | chr8 | 19813594 | + | ENST00000314146 | ASAH1 | chr8 | 17915132 | - | 1914 | 1488 | 323 | 1558 | 411 |
| 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 |
| ENST00000311322 | ENST00000262097 | LPL | chr8 | 19813594 | + | ASAH1 | chr8 | 17915132 | - | 0.000238155 | 0.9997619 |
| ENST00000311322 | ENST00000417108 | LPL | chr8 | 19813594 | + | ASAH1 | chr8 | 17915132 | - | 0.000233858 | 0.9997662 |
| ENST00000311322 | ENST00000520781 | LPL | chr8 | 19813594 | + | ASAH1 | chr8 | 17915132 | - | 0.000233858 | 0.9997662 |
| ENST00000311322 | ENST00000314146 | LPL | chr8 | 19813594 | + | ASAH1 | chr8 | 17915132 | - | 0.001020047 | 0.99897987 |
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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 >49545_49545_1_LPL-ASAH1_LPL_chr8_19813594_ENST00000311322_ASAH1_chr8_17915132_ENST00000262097_length(amino acids)=411AA_BP=388 MPTSSCPAIPFKGRLAQRQTAAPALSSLRLSRLISRSAPCSSSRGTRPEMESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKF ALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLV GQDVARFINWMEEEFNYPLDNVHLLGYSLGAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSI GIQKPVGHVDIYPNGGTFQPGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCN -------------------------------------------------------------- >49545_49545_2_LPL-ASAH1_LPL_chr8_19813594_ENST00000311322_ASAH1_chr8_17915132_ENST00000314146_length(amino acids)=411AA_BP=388 MPTSSCPAIPFKGRLAQRQTAAPALSSLRLSRLISRSAPCSSSRGTRPEMESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKF ALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLV GQDVARFINWMEEEFNYPLDNVHLLGYSLGAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSI GIQKPVGHVDIYPNGGTFQPGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCN -------------------------------------------------------------- >49545_49545_3_LPL-ASAH1_LPL_chr8_19813594_ENST00000311322_ASAH1_chr8_17915132_ENST00000417108_length(amino acids)=411AA_BP=388 MPTSSCPAIPFKGRLAQRQTAAPALSSLRLSRLISRSAPCSSSRGTRPEMESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKF ALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLV GQDVARFINWMEEEFNYPLDNVHLLGYSLGAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSI GIQKPVGHVDIYPNGGTFQPGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCN -------------------------------------------------------------- >49545_49545_4_LPL-ASAH1_LPL_chr8_19813594_ENST00000311322_ASAH1_chr8_17915132_ENST00000520781_length(amino acids)=411AA_BP=388 MPTSSCPAIPFKGRLAQRQTAAPALSSLRLSRLISRSAPCSSSRGTRPEMESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKF ALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLV GQDVARFINWMEEEFNYPLDNVHLLGYSLGAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSI GIQKPVGHVDIYPNGGTFQPGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCN -------------------------------------------------------------- |
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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/chr8:19813594/chr8:17915132) - 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 |
| LPL | ASAH1 |
| FUNCTION: Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage (PubMed:8675619, PubMed:11342582, PubMed:27578112). Although it has both phospholipase and triglyceride lipase activities it is primarily a triglyceride lipase with low but detectable phospholipase activity (PubMed:7592706, PubMed:12032167). Mediates margination of triglyceride-rich lipoprotein particles in capillaries (PubMed:24726386). Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans (PubMed:11342582, PubMed:27811232). {ECO:0000269|PubMed:11342582, ECO:0000269|PubMed:12032167, ECO:0000269|PubMed:24726386, ECO:0000269|PubMed:27578112, ECO:0000269|PubMed:27811232, ECO:0000269|PubMed:7592706, ECO:0000269|PubMed:8675619}. | FUNCTION: Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:7744740, PubMed:15655246). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Has also an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821). {ECO:0000250|UniProtKB:Q9WV54, ECO:0000269|PubMed:10610716, ECO:0000269|PubMed:11451951, ECO:0000269|PubMed:12764132, ECO:0000269|PubMed:12815059, ECO:0000269|PubMed:15655246, ECO:0000269|PubMed:17713573, ECO:0000269|PubMed:22261821, ECO:0000269|PubMed:7744740, ECO:0000303|PubMed:10610716}.; FUNCTION: [Isoform 2]: May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity. {ECO:0000305|PubMed:22927646}. |
| 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 |
| - 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 | LPL | chr8:19813594 | chr8:17915132 | ENST00000311322 | + | 6 | 10 | 341_464 | 339.3333333333333 | 476.0 | Domain | PLAT |
| Hgene | LPL | chr8:19813594 | chr8:17915132 | ENST00000311322 | + | 6 | 10 | 430_434 | 339.3333333333333 | 476.0 | Region | Important for heparin binding |
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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 |
| LPL | |
| ASAH1 |
| - 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 |
| Hgene | LPL | chr8:19813594 | chr8:17915132 | ENST00000311322 | + | 6 | 10 | 443_467 | 339.3333333333333 | 476.0 | GPIHBP1 |
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Related Drugs to LPL-ASAH1 |
| 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 LPL-ASAH1 |
| 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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