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Fusion gene ID: 35270 |
FusionGeneSummary for SNX1_SCG5 |
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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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SNX1 | GO:0072673 | lamellipodium morphogenesis | 20604901 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SNX1_SCG5 |
![]() (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 |
![]() (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 |