|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 33586 |
FusionGeneSummary for SGPP1_NAA30 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SGPP1_NAA30 | Fusion gene ID: 33586 | Hgene | Tgene | Gene symbol | SGPP1 | NAA30 | Gene ID | 81537 | 122830 |
| Gene name | sphingosine-1-phosphate phosphatase 1 | N(alpha)-acetyltransferase 30, NatC catalytic subunit | |
| Synonyms | SPPase1 | C14orf35|MAK3|Mak3p|NAT12|NAT12P | |
| Cytomap | 14q23.2 | 14q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sphingosine-1-phosphate phosphatase 1hSPP1hSPPase1sphingosine-1-phosphatase 1spp1 | N-alpha-acetyltransferase 30N-acetyltransferase 12 (GCN5-related, putative)N-acetyltransferase MAK3 homolognatC catalytic subunitputative N-acetyltransferase | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9BX95 | Q147X3 | |
| Ensembl transtripts involved in fusion gene | ENST00000247225, | ENST00000555166, ENST00000556492, ENST00000554703, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 1 X 2=4 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: SGPP1 [Title/Abstract] AND NAA30 [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 |
| Tgene | NAA30 | GO:0017196 | N-terminal peptidyl-methionine acetylation | 19398576 |
| 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 | LGG | TCGA-S9-A6WM-01A | SGPP1 | chr14 | 64193979 | - | NAA30 | chr14 | 57863470 | + |
| * 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 | ENST00000247225 | ENST00000555166 | SGPP1 | chr14 | 64193979 | - | NAA30 | chr14 | 57863470 | + |
| 5CDS-5UTR | ENST00000247225 | ENST00000556492 | SGPP1 | chr14 | 64193979 | - | NAA30 | chr14 | 57863470 | + |
| 5CDS-5UTR | ENST00000247225 | ENST00000554703 | SGPP1 | chr14 | 64193979 | - | NAA30 | chr14 | 57863470 | + |
Top |
FusionProtFeatures for SGPP1_NAA30 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SGPP1 | NAA30 |
| Specifically dephosphorylates sphingosine 1-phosphate(S1P), dihydro-S1P, and phyto-S1P. Does not act on ceramide 1-phoshate, lysophosphatidic acid or phosphatidic acid. Regulatesthe intracellular levels of the bioactive sphingolipid metaboliteS1P that regulates diverse biological processes acting both as anextracellular receptor ligand or as an intracellular secondmessenger (PubMed:12815058, PubMed:11756451). Involved inefficient ceramide synthesis from exogenous sphingoid bases.Converts S1P to sphingosine, which is readily metabolized toceramide via ceramide synthase. In concert with sphingosine kinase2 (SphK2), recycles sphingosine into ceramide though aphosphorylation/dephosphorylation cycle. Regulates intracellularceramide levels, which in turn regulate apoptosis (By similarity).Via S1P levels, modulates resting tone, intracellular Ca(2+) andmyogenic vasoconstriction in resistance arteries(PubMed:18583713). Also involved in unfolded protein response(UPR) and ER stress-induced autophagy via regulation ofintracellular S1P levels (PubMed:20798685).{ECO:0000250|UniProtKB:Q9JI99, ECO:0000269|PubMed:11756451,ECO:0000269|PubMed:12815058, ECO:0000269|PubMed:18583713,ECO:0000269|PubMed:20798685}. | Catalytic subunit of the N-terminal acetyltransferase C(NatC) complex. Catalyzes acetylation of the N-terminal methionineresidues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly.Necessary for the lysosomal localization and function of ARL8Bsugeesting that ARL8B is a NatC substrate.{ECO:0000269|PubMed:19398576}. |
| 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 |
Top |
FusionGeneSequence for SGPP1_NAA30 |
| 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). |
Top |
FusionGenePPI for SGPP1_NAA30 |
| 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 |
| SGPP1 | ELAVL1, SCGN, MCOLN3, PTH1R, CHST10, GABRE, SLAMF1, DLK1, ERGIC3, TUBG1, GOLT1B, TMEM63B, LAMP3, SLC22A9, SYP, SLC39A8, SLC7A1, MAS1, GDPD5, YIPF3, SLC15A1, TM2D2, GPR114, RHOT2, ASIC4, UBC | NAA30 | PTAR1, DUSP19, CD2BP2 |
| - 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 |
Top |
RelatedDrugs for SGPP1_NAA30 |
| 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 |
Top |
RelatedDiseases for SGPP1_NAA30 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|