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Fusion gene ID: 2889 |
FusionGeneSummary for ASAH2_SGMS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ASAH2_SGMS1 | Fusion gene ID: 2889 | Hgene | Tgene | Gene symbol | ASAH2 | SGMS1 | Gene ID | 56624 | 259230 |
| Gene name | N-acylsphingosine amidohydrolase 2 | sphingomyelin synthase 1 | |
| Synonyms | BCDase|HNAC1|LCDase|N-CDase|NCDase | MOB|MOB1|SMS1|TMEM23|hmob33 | |
| Cytomap | 10q11.23 | 10q11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neutral ceramidaseN-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2acylsphingosine deacylase 2mitochondrial ceramidaseneutral/alkaline ceramidasenon-lysosomal ceramidase | phosphatidylcholine:ceramide cholinephosphotransferase 1medulla oblongata-derived proteinprotein Mobtransmembrane protein 23 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NR71 | Q86VZ5 | |
| Ensembl transtripts involved in fusion gene | ENST00000395526, ENST00000443575, ENST00000447815, ENST00000329428, | ENST00000361781, ENST00000429490, ENST00000492601, ENST00000361543, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 4 X 5=120 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ASAH2 [Title/Abstract] AND SGMS1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | ASAH2 | GO:0006670 | sphingosine metabolic process | 26190575 |
| Hgene | ASAH2 | GO:0006672 | ceramide metabolic process | 26190575 |
| Tgene | SGMS1 | GO:0006686 | sphingomyelin biosynthetic process | 14685263|14976195 |
| Tgene | SGMS1 | GO:0046513 | ceramide biosynthetic process | 25605874 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | STAD | TCGA-CG-4443-01A | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 5CDS-5UTR | ENST00000395526 | ENST00000361781 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-intron | ENST00000395526 | ENST00000429490 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-5UTR | ENST00000395526 | ENST00000492601 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-intron | ENST00000395526 | ENST00000361543 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| intron-5UTR | ENST00000443575 | ENST00000361781 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| intron-intron | ENST00000443575 | ENST00000429490 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| intron-5UTR | ENST00000443575 | ENST00000492601 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| intron-intron | ENST00000443575 | ENST00000361543 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-5UTR | ENST00000447815 | ENST00000361781 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-intron | ENST00000447815 | ENST00000429490 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-5UTR | ENST00000447815 | ENST00000492601 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-intron | ENST00000447815 | ENST00000361543 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-5UTR | ENST00000329428 | ENST00000361781 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-intron | ENST00000329428 | ENST00000429490 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-5UTR | ENST00000329428 | ENST00000492601 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
| 5CDS-intron | ENST00000329428 | ENST00000361543 | ASAH2 | chr10 | 52002962 | - | SGMS1 | chr10 | 52104105 | - |
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FusionProtFeatures for ASAH2_SGMS1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ASAH2 | SGMS1 |
| Hydrolyzes the sphingolipid ceramide into sphingosineand free fatty acid at an optimal pH of 6.5-8.5 (PubMed:10781606,PubMed:26190575). Acts as a key regulator of sphingolipidsignaling metabolites by generating sphingosine at the cellsurface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, andgenerating sphingosine, a precursor of the antiapoptotic factorsphingosine 1-phosphate. Probably involved in the digestion ofdietary sphingolipids in intestine by acting as a key enzyme forthe catabolism of dietary sphingolipids and regulating the levelsof bioactive sphingolipid metabolites in the intestinal tract.{ECO:0000269|PubMed:10781606, ECO:0000269|PubMed:15946935,ECO:0000269|PubMed:16061940, ECO:0000269|PubMed:26190575}. | Sphingomyelin synthases synthesize the sphingolipid,sphingomyelin, through transfer of the phosphatidyl head group,phosphatidylcholine, on to the primary hydroxyl of ceramide. Thereaction is bidirectional depending on the respective levels ofthe sphingolipid and ceramide. Golgi apparatus SMS1 directly andspecifically recognizes the choline head group on the substrate,requiring two fatty chains on the choline-P donor molecule inorder to be recognized efficiently as a substrate. Major form inmacrophages. Required for cell growth in certain cell types suchas HeLa cells. Suppresses BAX-mediated apoptosis and also preventscell death in response to stimuli such as hydrogen peroxide,osmotic stress, elevated temperature and exogenously suppliedsphingolipids. May protect against cell death by reversing thestress-inducible increase in levels of proapoptotic ceramide.{ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912}. |
| 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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FusionGeneSequence for ASAH2_SGMS1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ASAH2_SGMS1 |
| 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 |
| ASAH2 | SGMS1 | ATXN1, STK4, PTAR1, TRIM25 |
| - 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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RelatedDrugs for ASAH2_SGMS1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ASAH2_SGMS1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ASAH2 | C0023895 | Liver diseases | 1 | CTD_human |
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