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Fusion gene ID: 374 |
FusionGeneSummary for ACER2_CSH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACER2_CSH1 | Fusion gene ID: 374 | Hgene | Tgene | Gene symbol | ACER2 | CSH1 | Gene ID | 340485 | 1442 |
| Gene name | alkaline ceramidase 2 | chorionic somatomammotropin hormone 1 | |
| Synonyms | ALKCDase2|ASAH3L | CS-1|CSA|CSMT|GHB3|PL|hCS-1|hCS-A | |
| Cytomap | 9p22.1 | 17q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alkaline ceramidase 2alkCDase 2alkaline CDase 2ceramide hydrolasehaCER2 | chorionic somatomammotropin hormone 1choriomammotropinchorionic somatomammotropin Achorionic somatomammotropin-1growth hormone B3placental lactogen | |
| Modification date | 20180329 | 20180523 | |
| UniProtAcc | Q5QJU3 | ||
| Ensembl transtripts involved in fusion gene | ENST00000380376, ENST00000340967, | ENST00000453363, ENST00000316193, ENST00000329882, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 7 X 1=49 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(7/49*10)=0.514573172829758 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ACER2 [Title/Abstract] AND CSH1 [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 | ACER2 | GO:0001953 | negative regulation of cell-matrix adhesion | 18945876 |
| Hgene | ACER2 | GO:0008284 | positive regulation of cell proliferation | 16940153 |
| Hgene | ACER2 | GO:0032526 | response to retinoic acid | 18945876 |
| Hgene | ACER2 | GO:0033629 | negative regulation of cell adhesion mediated by integrin | 18945876 |
| Hgene | ACER2 | GO:0046512 | sphingosine biosynthetic process | 16940153|20089856|20628055 |
| 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 |
| ChiTaRS3.1 | BC092487 | ACER2 | chr9 | 19451624 | + | CSH1 | chr17 | 61972325 | - |
| * 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 |
| intron-3UTR | ENST00000380376 | ENST00000453363 | ACER2 | chr9 | 19451624 | + | CSH1 | chr17 | 61972325 | - |
| intron-3UTR | ENST00000380376 | ENST00000316193 | ACER2 | chr9 | 19451624 | + | CSH1 | chr17 | 61972325 | - |
| intron-3UTR | ENST00000380376 | ENST00000329882 | ACER2 | chr9 | 19451624 | + | CSH1 | chr17 | 61972325 | - |
| 3UTR-3UTR | ENST00000340967 | ENST00000453363 | ACER2 | chr9 | 19451624 | + | CSH1 | chr17 | 61972325 | - |
| 3UTR-3UTR | ENST00000340967 | ENST00000316193 | ACER2 | chr9 | 19451624 | + | CSH1 | chr17 | 61972325 | - |
| 3UTR-3UTR | ENST00000340967 | ENST00000329882 | ACER2 | chr9 | 19451624 | + | CSH1 | chr17 | 61972325 | - |
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FusionProtFeatures for ACER2_CSH1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACER2 | CSH1 |
| Hydrolyzes the sphingolipid ceramide into sphingosineand free fatty acid. Unsaturated long-chain ceramides are the bestsubstrates, saturated long-chain ceramides and unsaturated verylong-chain ceramides are good substrates, whereas saturated verylong-chain ceramides and short-chain ceramides were poorsubstrates. The substrate preference is D-erythro-C(18:1)-,C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide> D-erythro-C(6:0)-ceramide. Inhibits the maturation of proteinglycosylation in the Golgi complex, including that of integrinbeta-1 (ITGB1) and of LAMP1, by increasing the levels ofsphingosine. Inhibits cell adhesion by reducing the level of ITGB1in the cell surface. May have a role in cell proliferation andapoptosis that seems to depend on the balance between sphingosineand sphingosine-1-phosphate. {ECO:0000269|PubMed:16940153,ECO:0000269|PubMed:18945876, ECO:0000269|PubMed:20089856}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 ACER2_CSH1 |
| 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 ACER2_CSH1 |
| 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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RelatedDrugs for ACER2_CSH1 |
| 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 ACER2_CSH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CSH1 | C0175693 | Russell-Silver syndrome | 1 | CTD_human |
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