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Fusion gene ID: 35880 |
FusionGeneSummary for SPTLC3_MRPL45P2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPTLC3_MRPL45P2 | Fusion gene ID: 35880 | Hgene | Tgene | Gene symbol | SPTLC3 | MRPL45P2 | Gene ID | 55304 | 653479 |
| Gene name | serine palmitoyltransferase long chain base subunit 3 | mitochondrial ribosomal protein L45 pseudogene 2 | |
| Synonyms | C20orf38|LCB 3|LCB2B|LCB3|SPT 3|SPT3|SPTLC2L|dJ718P11|dJ718P11.1|hLCB2b | - | |
| Cytomap | 20p12.1 | 17q21.32 | |
| Type of gene | protein-coding | pseudo | |
| Description | serine palmitoyltransferase 3long chain base biosynthesis protein 2blong chain base biosynthesis protein 3serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)serine-palmitoyl-CoA transferase 3 | - | |
| Modification date | 20180506 | 20180329 | |
| UniProtAcc | Q9NUV7 | ||
| Ensembl transtripts involved in fusion gene | ENST00000399002, ENST00000378194, ENST00000476791, | ENST00000575291, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 1=4 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: SPTLC3 [Title/Abstract] AND MRPL45P2 [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 | SPTLC3 | GO:0046520 | sphingoid biosynthetic process | 19648650 |
| 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 | LD | BRCA | TCGA-AN-A0XW-01A | SPTLC3 | chr20 | 13107364 | + | MRPL45P2 | chr17 | 45534159 | - |
| * 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 | ENST00000399002 | ENST00000575291 | SPTLC3 | chr20 | 13107364 | + | MRPL45P2 | chr17 | 45534159 | - |
| 3UTR-5UTR | ENST00000378194 | ENST00000575291 | SPTLC3 | chr20 | 13107364 | + | MRPL45P2 | chr17 | 45534159 | - |
| intron-5UTR | ENST00000476791 | ENST00000575291 | SPTLC3 | chr20 | 13107364 | + | MRPL45P2 | chr17 | 45534159 | - |
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FusionProtFeatures for SPTLC3_MRPL45P2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPTLC3 | MRPL45P2 |
| Serine palmitoyltransferase (SPT). The heterodimerformed with LCB1/SPTLC1 constitutes the catalytic core. Thecomposition of the serine palmitoyltransferase (SPT) complexdetermines the substrate preference. The SPTLC1-SPTLC3-SPTSSAisozyme uses both C14-CoA and C16-CoA as substrates, while theSPTLC1-SPTLC3-SPTSSB has the ability to use a broader range ofacyl-CoAs without apparent preference.{ECO:0000269|PubMed:19416851}. | 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 SPTLC3_MRPL45P2 |
| 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 SPTLC3_MRPL45P2 |
| 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 |
| SPTLC3 | MRPL45P2 |
| - 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 SPTLC3_MRPL45P2 |
| 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 |
| Hgene | SPTLC3 | Q9NUV7 | DB00114 | Pyridoxal Phosphate | Serine palmitoyltransferase 3 | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for SPTLC3_MRPL45P2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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