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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:SPPL2B-LGALS9 (FusionGDB2 ID:85994) |
Fusion Gene Summary for SPPL2B-LGALS9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPPL2B-LGALS9 | Fusion gene ID: 85994 | Hgene | Tgene | Gene symbol | SPPL2B | LGALS9 | Gene ID | 56928 | 3965 |
| Gene name | signal peptide peptidase like 2B | galectin 9 | |
| Synonyms | IMP-4|IMP4|PSH4|PSL1 | HUAT|LGALS9A | |
| Cytomap | 19p13.3 | 17q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | signal peptide peptidase-like 2BSPP-like 2Bintramembrane protease 4presenilin homologous protein 4presenilin-like protein 1 | galectin-9ecalectingal-9lectin, galactoside-binding, soluble, 9tumor antigen HOM-HD-21urate transporter/channel protein | |
| Modification date | 20200313 | 20200315 | |
| UniProtAcc | Q8TCT7 | Q3B8N2 | |
| Ensembl transtripts involved in fusion gene | ENST00000452401, | ENST00000302228, ENST00000310394, ENST00000313648, ENST00000395473, ENST00000413914, ENST00000448970, | |
| Fusion gene scores | * DoF score | 10 X 8 X 6=480 | 8 X 8 X 5=320 |
| # samples | 11 | 9 | |
| ** MAII score | log2(11/480*10)=-2.12553088208386 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/320*10)=-1.83007499855769 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SPPL2B [Title/Abstract] AND LGALS9 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SPPL2B(2337624)-LGALS9(25972340), # 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 |
| Hgene | SPPL2B | GO:0006509 | membrane protein ectodomain proteolysis | 16829951|17965014 |
| Hgene | SPPL2B | GO:0031293 | membrane protein intracellular domain proteolysis | 16829951|19114711 |
| Hgene | SPPL2B | GO:0033619 | membrane protein proteolysis | 2313285 |
| Tgene | LGALS9 | GO:0006954 | inflammatory response | 23817958 |
| Tgene | LGALS9 | GO:0007565 | female pregnancy | 23242525 |
| Tgene | LGALS9 | GO:0010628 | positive regulation of gene expression | 16116184 |
| Tgene | LGALS9 | GO:0010629 | negative regulation of gene expression | 23408620 |
| Tgene | LGALS9 | GO:0032673 | regulation of interleukin-4 production | 16116184 |
| Tgene | LGALS9 | GO:0032674 | regulation of interleukin-5 production | 16116184 |
| Tgene | LGALS9 | GO:0032689 | negative regulation of interferon-gamma production | 23408620 |
| Tgene | LGALS9 | GO:0032753 | positive regulation of interleukin-4 production | 20209097 |
| Tgene | LGALS9 | GO:0032834 | positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response | 20209097 |
| Tgene | LGALS9 | GO:0034134 | toll-like receptor 2 signaling pathway | 16116184 |
| Tgene | LGALS9 | GO:0034142 | toll-like receptor 4 signaling pathway | 16116184 |
| Tgene | LGALS9 | GO:0038066 | p38MAPK cascade | 16116184 |
| Tgene | LGALS9 | GO:0045953 | negative regulation of natural killer cell mediated cytotoxicity | 23408620 |
| Tgene | LGALS9 | GO:0046598 | positive regulation of viral entry into host cell | 21670307 |
| Tgene | LGALS9 | GO:0050718 | positive regulation of interleukin-1 beta secretion | 20209097 |
| Tgene | LGALS9 | GO:0060135 | maternal process involved in female pregnancy | 25578313 |
| Tgene | LGALS9 | GO:0070241 | positive regulation of activated T cell autonomous cell death | 20209097 |
| Tgene | LGALS9 | GO:0070371 | ERK1 and ERK2 cascade | 16116184 |
| Tgene | LGALS9 | GO:0070555 | response to interleukin-1 | 23817958 |
| Tgene | LGALS9 | GO:0071346 | cellular response to interferon-gamma | 23817958 |
| Tgene | LGALS9 | GO:0071636 | positive regulation of transforming growth factor beta production | 20209097 |
| Tgene | LGALS9 | GO:1902715 | positive regulation of interferon-gamma secretion | 20209097 |
| Tgene | LGALS9 | GO:1904469 | positive regulation of tumor necrosis factor secretion | 20209097 |
| Tgene | LGALS9 | GO:2000562 | negative regulation of CD4-positive, alpha-beta T cell proliferation | 20209097 |
| Tgene | LGALS9 | GO:2000563 | positive regulation of CD4-positive, alpha-beta T cell proliferation | 16116184 |
| Tgene | LGALS9 | GO:2000667 | positive regulation of interleukin-13 secretion | 20209097 |
| Tgene | LGALS9 | GO:2000670 | positive regulation of dendritic cell apoptotic process | 16116184 |
| Tgene | LGALS9 | GO:2001181 | positive regulation of interleukin-10 secretion | 16116184|20209097 |
| Tgene | LGALS9 | GO:2001190 | positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell | 16116184 |
| Fusion gene breakpoints across SPPL2B (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 LGALS9 (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-EQ-A4SO-01A | SPPL2B | chr19 | 2337624 | + | LGALS9 | chr17 | 25972340 | + |
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Fusion Gene ORF analysis for SPPL2B-LGALS9 |
| 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 |
| 3UTR-intron | ENST00000452401 | ENST00000302228 | SPPL2B | chr19 | 2337624 | + | LGALS9 | chr17 | 25972340 | + |
| 3UTR-intron | ENST00000452401 | ENST00000310394 | SPPL2B | chr19 | 2337624 | + | LGALS9 | chr17 | 25972340 | + |
| 3UTR-intron | ENST00000452401 | ENST00000313648 | SPPL2B | chr19 | 2337624 | + | LGALS9 | chr17 | 25972340 | + |
| 3UTR-intron | ENST00000452401 | ENST00000395473 | SPPL2B | chr19 | 2337624 | + | LGALS9 | chr17 | 25972340 | + |
| 3UTR-intron | ENST00000452401 | ENST00000413914 | SPPL2B | chr19 | 2337624 | + | LGALS9 | chr17 | 25972340 | + |
| 3UTR-intron | ENST00000452401 | ENST00000448970 | SPPL2B | chr19 | 2337624 | + | LGALS9 | chr17 | 25972340 | + |
| 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 SPPL2B-LGALS9 |
| 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) |
| SPPL2B | chr19 | 2337624 | + | LGALS9 | chr17 | 25972339 | + | 0.21390322 | 0.78609675 |
| SPPL2B | chr19 | 2337624 | + | LGALS9 | chr17 | 25972339 | + | 0.21390322 | 0.78609675 |
| 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 SPPL2B-LGALS9 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:2337624/:25972340) - 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 |
| SPPL2B | LGALS9 |
| FUNCTION: Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing (PubMed:16829952, PubMed:16829951, PubMed:17965014, PubMed:19114711, PubMed:22194595). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829952, PubMed:16829951). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus processed leader peptide gp18 of the envelope glycoprotein gp130 dependently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852). {ECO:0000269|PubMed:16829951, ECO:0000269|PubMed:16829952, ECO:0000269|PubMed:17965014, ECO:0000269|PubMed:19114711, ECO:0000269|PubMed:22194595, ECO:0000269|PubMed:23132852}. | FUNCTION: Binds galactosides. {ECO:0000250}. |
| 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 SPPL2B-LGALS9 |
| 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 SPPL2B-LGALS9 |
| 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 SPPL2B-LGALS9 |
| 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 SPPL2B-LGALS9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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