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Fusion gene ID: 35319 |
FusionGeneSummary for SNX5_C8orf44-SGK3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SNX5_C8orf44-SGK3 | Fusion gene ID: 35319 | Hgene | Tgene | Gene symbol | SNX5 | C8orf44-SGK3 | Gene ID | 27131 | 100533105 |
| Gene name | sorting nexin 5 | C8orf44-SGK3 readthrough | |
| Synonyms | - | - | |
| Cytomap | 20p11.23 | 8q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sorting nexin-5 | serine/threonine-protein kinase Sgk3cytokine-independent survival kinaseserum/glucocorticoid-regulated kinase 3 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9Y5X3 | ||
| Ensembl transtripts involved in fusion gene | ENST00000483485, ENST00000377759, ENST00000377768, ENST00000606557, ENST00000606602, ENST00000481323, ENST00000486039, | ENST00000520044, ENST00000519289, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SNX5 [Title/Abstract] AND C8orf44-SGK3 [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 | SNX5 | GO:0006907 | pinocytosis | 18854019 |
| 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 | AW362291 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| * 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-intron | ENST00000483485 | ENST00000520044 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000483485 | ENST00000519289 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000377759 | ENST00000520044 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000377759 | ENST00000519289 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000377768 | ENST00000520044 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000377768 | ENST00000519289 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000606557 | ENST00000520044 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000606557 | ENST00000519289 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000606602 | ENST00000520044 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000606602 | ENST00000519289 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000481323 | ENST00000520044 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000481323 | ENST00000519289 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000486039 | ENST00000520044 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
| intron-intron | ENST00000486039 | ENST00000519289 | SNX5 | chr20 | 17936707 | + | C8orf44-SGK3 | chr8 | 67608014 | - |
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FusionProtFeatures for SNX5_C8orf44-SGK3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SNX5 | C8orf44-SGK3 |
| Involved in several stages of intracellular trafficking.Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate(PtdIns(3,4)P2) (PubMed:15561769). Acts in part as component ofthe retromer membrane-deforming SNX-BAR subcomplex. The SNX-BARretromer mediates retrograde transport of cargo proteins fromendosomes to the trans-Golgi network (TGN) and is involved inendosome-to-plasma membrane transport for cargo protein recycling.The SNX-BAR subcomplex functions to deform the donor membrane intoa tubular profile called endosome-to-TGN transport carrier (ETC)(Probable). Does not have in vitro vesicle-to-membrane remodelingactivity (PubMed:23085988). Involved in retrograde transport oflysosomal enzyme receptor IGF2R (PubMed:17148574,PubMed:18596235). May function as link between endosomal transportvesicles and dynactin (Probable). Plays a role in theinternalization of EGFR after EGF stimulation (Probable). Involvedin EGFR endosomal sorting and degradation; the function involvesPIP5K1C isoform 3 and is retromer-independent (PubMed:23602387).Together with PIP5K1C isoform 3 facilitates HGS interaction withubiquitinated EGFR, which initiates EGFR sorting to intraluminalvesicles (ILVs) of the multivesicular body for subsequentlysosomal degradation (Probable). Involved in E-cadherin sortingand degradation; inhibits PIP5K1C isoform 3-mediated E-cadherindegradation (PubMed:24610942). Plays a role in macropinocytosis(PubMed:18854019, PubMed:21048941). {ECO:0000269|PubMed:18854019,ECO:0000269|PubMed:21048941, ECO:0000269|PubMed:24610942,ECO:0000303|PubMed:15561769, ECO:0000303|PubMed:19619496,ECO:0000303|PubMed:23085988}. | 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 SNX5_C8orf44-SGK3 |
| 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 SNX5_C8orf44-SGK3 |
| 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 SNX5_C8orf44-SGK3 |
| 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 SNX5_C8orf44-SGK3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SNX5 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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