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Fusion gene ID: 35874 |
FusionGeneSummary for SPTLC2_ATP5S |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPTLC2_ATP5S | Fusion gene ID: 35874 | Hgene | Tgene | Gene symbol | SPTLC2 | ATP5S | Gene ID | 9517 | 27109 |
| Gene name | serine palmitoyltransferase long chain base subunit 2 | ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B) | |
| Synonyms | HSN1C|LCB2|LCB2A|NSAN1C|SPT2|hLCB2a | ATPW|FB|HSU79253 | |
| Cytomap | 14q24.3 | 14q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine palmitoyltransferase 2LCB 2SPT 2long chain base biosynthesis protein 2aserine palmitoyltransferase, subunit IIserine-palmitoyl-CoA transferase 2 | ATP synthase subunit s, mitochondrialATP synthase coupling factor B, mitochondrialATP synthase coupling factor B-like 1ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)ATP synthase-coupling factor Bmitochondrial ATP syntha | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | O15270 | Q99766 | |
| Ensembl transtripts involved in fusion gene | ENST00000216484, ENST00000556264, | ENST00000554438, ENST00000245448, ENST00000426751, ENST00000311459, ENST00000358473, | |
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 4 X 4 X 3=48 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/144*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SPTLC2 [Title/Abstract] AND ATP5S [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 | SPTLC2 | GO:0030148 | sphingolipid biosynthetic process | 25332431 |
| Hgene | SPTLC2 | GO:0046513 | ceramide biosynthetic process | 25691431 |
| Hgene | SPTLC2 | GO:1904504 | positive regulation of lipophagy | 25332431 |
| 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 | OV | TCGA-30-1866-01A | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| * 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-3UTR | ENST00000216484 | ENST00000554438 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| 5CDS-3UTR | ENST00000216484 | ENST00000245448 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| 5CDS-3UTR | ENST00000216484 | ENST00000426751 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| 5CDS-3UTR | ENST00000216484 | ENST00000311459 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| 5CDS-3UTR | ENST00000216484 | ENST00000358473 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| intron-3UTR | ENST00000556264 | ENST00000554438 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| intron-3UTR | ENST00000556264 | ENST00000245448 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| intron-3UTR | ENST00000556264 | ENST00000426751 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| intron-3UTR | ENST00000556264 | ENST00000311459 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
| intron-3UTR | ENST00000556264 | ENST00000358473 | SPTLC2 | chr14 | 78036727 | - | ATP5S | chr14 | 50789229 | + |
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FusionProtFeatures for SPTLC2_ATP5S |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPTLC2 | ATP5S |
| Serine palmitoyltransferase (SPT). The heterodimerformed with LCB1/SPTLC1 constitutes the catalytic core. Thecomposition of the serine palmitoyltransferase (SPT) complexdetermines the substrate preference. The SPTLC1-SPTLC2-SPTSSAcomplex shows a strong preference for C16-CoA substrate, while theSPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoAsubstrate. {ECO:0000269|PubMed:19416851,ECO:0000269|PubMed:20920666}. | Involved in regulation of mitochondrial membrane ATPsynthase. Necessary for H(+) conduction of ATP synthase.Facilitates energy-driven catalysis of ATP synthesis by blocking aproton leak through an alternative proton exit pathway (Bysimilarity). {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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FusionGeneSequence for SPTLC2_ATP5S |
| 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 SPTLC2_ATP5S |
| 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 |
| SPTLC2 | BCL6, NOTCH3, SPINT2, NRG1, P2RX4, FAM189A2, WBP1, EVA1C, NTRK1, HERC2, PTAR1, LRRTM1, ROM1, PTPRN, TRIM25 | ATP5S | KIF2A, LLGL2, PPIA, MYH13, ING3, MYO5C, THOC2, RNASEH2B, KLC3, CCL4, SPINK2, TRMT2A, MFSD4 |
| - 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 SPTLC2_ATP5S |
| 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 | SPTLC2 | O15270 | DB00114 | Pyridoxal Phosphate | Serine palmitoyltransferase 2 | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for SPTLC2_ATP5S |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SPTLC2 | C3150896 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | 2 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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