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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:TMEM50B-ASAH1 (FusionGDB2 ID:91505) |
Fusion Gene Summary for TMEM50B-ASAH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM50B-ASAH1 | Fusion gene ID: 91505 | Hgene | Tgene | Gene symbol | TMEM50B | ASAH1 | Gene ID | 757 | 427 |
| Gene name | transmembrane protein 50B | N-acylsphingosine amidohydrolase 1 | |
| Synonyms | C21orf4|HCVP7TP3 | AC|ACDase|ASAH|PHP|PHP32|SMAPME | |
| Cytomap | 21q22.11 | 8p22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane protein 50BHCV p7-trans-regulated protein 3HCV p7-transregulated protein 3 | acid ceramidaseN-acylethanolamine hydrolase ASAH1N-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart protein | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q13510 | |
| Ensembl transtripts involved in fusion gene | ENST00000468874, ENST00000542230, | ENST00000262097, ENST00000381733, ENST00000417108, ENST00000520781, ENST00000314146, ENST00000520051, | |
| Fusion gene scores | * DoF score | 10 X 7 X 6=420 | 13 X 10 X 8=1040 |
| # samples | 11 | 16 | |
| ** MAII score | log2(11/420*10)=-1.93288580414146 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1040*10)=-2.70043971814109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TMEM50B [Title/Abstract] AND ASAH1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | TMEM50B(34852145)-ASAH1(17917212), # 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 | 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 TMEM50B (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 ASAH1 (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-CD-8527-01A | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
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Fusion Gene ORF analysis for TMEM50B-ASAH1 |
| 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 |
| intron-3CDS | ENST00000468874 | ENST00000262097 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| intron-3CDS | ENST00000468874 | ENST00000381733 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| intron-3CDS | ENST00000468874 | ENST00000417108 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| intron-3CDS | ENST00000468874 | ENST00000520781 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| intron-3CDS | ENST00000468874 | ENST00000314146 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| intron-intron | ENST00000468874 | ENST00000520051 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| 5UTR-3CDS | ENST00000542230 | ENST00000262097 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| 5UTR-3CDS | ENST00000542230 | ENST00000381733 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| 5UTR-3CDS | ENST00000542230 | ENST00000417108 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| 5UTR-3CDS | ENST00000542230 | ENST00000520781 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| 5UTR-3CDS | ENST00000542230 | ENST00000314146 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| 5UTR-intron | ENST00000542230 | ENST00000520051 | TMEM50B | chr21 | 34852145 | - | ASAH1 | chr8 | 17917212 | - |
| 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 TMEM50B-ASAH1 |
| 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 TMEM50B-ASAH1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | ASAH1 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | 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. |
| - 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 TMEM50B-ASAH1 |
| 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 TMEM50B-ASAH1 |
| 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 TMEM50B-ASAH1 |
| 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 TMEM50B-ASAH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ASAH1 | C0268255 | Farber Lipogranulomatosis | 15 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | ASAH1 | C1834569 | Jankovic Rivera syndrome | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | ASAH1 | C0004238 | Atrial Fibrillation | 2 | CTD_human |
| Tgene | ASAH1 | C0023794 | Lipoidosis | 2 | CTD_human |
| Tgene | ASAH1 | C0235480 | Paroxysmal atrial fibrillation | 2 | CTD_human |
| Tgene | ASAH1 | C2585653 | Persistent atrial fibrillation | 2 | CTD_human |
| Tgene | ASAH1 | C3468561 | familial atrial fibrillation | 2 | CTD_human |
| Tgene | ASAH1 | C0020305 | Hydrops Fetalis | 1 | GENOMICS_ENGLAND |
| Tgene | ASAH1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | ASAH1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | ASAH1 | C0221765 | Chronic schizophrenia | 1 | PSYGENET |
| Tgene | ASAH1 | C0455988 | Hydrops Fetalis, Non-Immune | 1 | GENOMICS_ENGLAND |
| Tgene | ASAH1 | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
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