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Fusion gene ID: 35270 |
FusionGeneSummary for SNX1_SCG5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SNX1_SCG5 | Fusion gene ID: 35270 | Hgene | Tgene | Gene symbol | SNX1 | SCG5 | Gene ID | 6642 | 6447 |
| Gene name | sorting nexin 1 | secretogranin V | |
| Synonyms | HsT17379|VPS5 | 7B2|P7B2|SGNE1|SgV | |
| Cytomap | 15q22.31 | 15q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sorting nexin-1sorting nexin 1A | neuroendocrine protein 7B2pituitary polypeptideprohormone convertase chaperonesecretogranin-5secretory granule endocrine protein Isecretory granule, neuroendocrine protein 1 (7B2 protein) | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q13596 | P05408 | |
| Ensembl transtripts involved in fusion gene | ENST00000560829, ENST00000353874, ENST00000261889, ENST00000559844, ENST00000561026, ENST00000559339, | ENST00000413748, ENST00000300175, ENST00000494364, ENST00000497208, ENST00000498069, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 1 X 3=9 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SNX1 [Title/Abstract] AND SCG5 [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 | SNX1 | GO:0072673 | lamellipodium morphogenesis | 20604901 |
| 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 | SKCM | TCGA-EB-A57M-01A | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| * 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 |
| Frame-shift | ENST00000560829 | ENST00000413748 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000560829 | ENST00000300175 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000560829 | ENST00000494364 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000560829 | ENST00000497208 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| 5CDS-3UTR | ENST00000560829 | ENST00000498069 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000353874 | ENST00000413748 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000353874 | ENST00000300175 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000353874 | ENST00000494364 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000353874 | ENST00000497208 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| 5CDS-3UTR | ENST00000353874 | ENST00000498069 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000261889 | ENST00000413748 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000261889 | ENST00000300175 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000261889 | ENST00000494364 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000261889 | ENST00000497208 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| 5CDS-3UTR | ENST00000261889 | ENST00000498069 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000559844 | ENST00000413748 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000559844 | ENST00000300175 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000559844 | ENST00000494364 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000559844 | ENST00000497208 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| 5CDS-3UTR | ENST00000559844 | ENST00000498069 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000561026 | ENST00000413748 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000561026 | ENST00000300175 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000561026 | ENST00000494364 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| Frame-shift | ENST00000561026 | ENST00000497208 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| 5CDS-3UTR | ENST00000561026 | ENST00000498069 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| intron-3CDS | ENST00000559339 | ENST00000413748 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| intron-3CDS | ENST00000559339 | ENST00000300175 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| intron-3CDS | ENST00000559339 | ENST00000494364 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| intron-3CDS | ENST00000559339 | ENST00000497208 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
| intron-3UTR | ENST00000559339 | ENST00000498069 | SNX1 | chr15 | 64429131 | + | SCG5 | chr15 | 32971967 | + |
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FusionProtFeatures for SNX1_SCG5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SNX1 | SCG5 |
| Involved in several stages of intracellular trafficking.Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate(PtdIns(3,5)P2) (PubMed:12198132). 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). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:19816406,PubMed:23085988). Involved in retrograde endosome-to-TGN transportof lysosomal enzyme receptors (IGF2R, M6PR and SORT1) andShiginella dysenteria toxin stxB. Plays a role in targetingligand-activated EGFR to the lysosomes for degradation afterendocytosis from the cell surface and release from the Golgi(PubMed:12198132, PubMed:15498486, PubMed:17550970,PubMed:17101778, PubMed:18088323, PubMed:21040701). Involvement inretromer-independent endocytic trafficking of P2RY1 and lysosomaldegradation of protease-activated receptor-1/F2R (PubMed:16407403,PubMed:20070609). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation;the function is dependent on GEF activity of KALRN(PubMed:20604901). Required for endocytosis of DRD5 upon agoniststimulation but not for basal receptor trafficking(PubMed:23152498). {ECO:0000269|PubMed:12198132,ECO:0000269|PubMed:15498486, ECO:0000269|PubMed:16407403,ECO:0000269|PubMed:17101778, ECO:0000269|PubMed:17550970,ECO:0000269|PubMed:18088323, ECO:0000269|PubMed:19816406,ECO:0000269|PubMed:20070609, ECO:0000269|PubMed:20604901,ECO:0000269|PubMed:21040701, ECO:0000269|PubMed:23085988,ECO:0000269|PubMed:23152498, ECO:0000303|PubMed:15498486}. | Acts as a molecular chaperone for PCSK2/PC2, preventingits premature activation in the regulated secretory pathway. Bindsto inactive PCSK2 in the endoplasmic reticulum and facilitates itstransport from there to later compartments of the secretorypathway where it is proteolytically matured and activated. Alsorequired for cleavage of PCSK2 but does not appear to be involvedin its folding. Plays a role in regulating pituitary hormonesecretion. The C-terminal peptide inhibits PCSK2 in vitro.{ECO:0000269|PubMed:7913882}. |
| 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 SNX1_SCG5 |
| 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 SNX1_SCG5 |
| 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 |
| SNX1 | F2R, HGS, SNX1, SNX6, ACVR2B, ACVR1B, PDGFRB, SNX2, EGFR, INSR, LEPR, ATXN7, UFD1L, TK1, DNAJC13, APP, ARFIP2, REEP6, GSPT2, MAT2B, NASP, SHMT2, ATG7, ATP6V1C1, CTTN, GARS, UGDH, STAT1, RTN3, RABAC1, ARL6IP1, AGTRAP, RTN4, CMTM5, FUNDC1, SNX32, MOV10, NXF1, BIN3, ZNF397, TMOD1, DNM3, GNAT2, CCNL2, FAM90A1, GSPT1, LSM2, RUVBL2, SMYD2, WDFY1, SNX5, VPS26A, VPS26B, VPS29, VPS35, NTRK1, MED4, MCM2, CDH1, CCDC88A, C1orf87, CCDC102B, HCLS1, MLX, FXR2, TMEM87A, POTEB3, KLHL10, GPX7, SLC35F2, STAM, DLD | SCG5 | UBQLN4, NR1H2, KHDRBS1, UBQLN1, CSH2 |
| - 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 SNX1_SCG5 |
| 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 SNX1_SCG5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SCG5 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | SCG5 | C0025149 | Medulloblastoma | 1 | CTD_human |
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