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Fusion gene ID: 34969 |
FusionGeneSummary for SMPDL3B_SNX1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMPDL3B_SNX1 | Fusion gene ID: 34969 | Hgene | Tgene | Gene symbol | SMPDL3B | SNX1 | Gene ID | 27293 | 6642 |
| Gene name | sphingomyelin phosphodiesterase acid like 3B | sorting nexin 1 | |
| Synonyms | ASML3B | HsT17379|VPS5 | |
| Cytomap | 1p35.3 | 15q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | acid sphingomyelinase-like phosphodiesterase 3bASM-like phosphodiesterase 3b | sorting nexin-1sorting nexin 1A | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q92485 | Q13596 | |
| Ensembl transtripts involved in fusion gene | ENST00000373894, ENST00000373888, ENST00000466793, ENST00000549094, | ENST00000560829, ENST00000353874, ENST00000261889, ENST00000559844, ENST00000561026, ENST00000559339, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 6 X 4 X 4=96 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(7/96*10)=-0.45567948377619 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMPDL3B [Title/Abstract] AND SNX1 [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 | 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 |
| ChiTaRS3.1 | DA812972 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| * 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-5UTR | ENST00000373894 | ENST00000560829 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000373894 | ENST00000353874 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000373894 | ENST00000261889 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000373894 | ENST00000559844 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000373894 | ENST00000561026 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-intron | ENST00000373894 | ENST00000559339 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000373888 | ENST00000560829 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000373888 | ENST00000353874 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000373888 | ENST00000261889 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000373888 | ENST00000559844 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000373888 | ENST00000561026 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-intron | ENST00000373888 | ENST00000559339 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000466793 | ENST00000560829 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000466793 | ENST00000353874 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000466793 | ENST00000261889 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000466793 | ENST00000559844 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000466793 | ENST00000561026 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-intron | ENST00000466793 | ENST00000559339 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000549094 | ENST00000560829 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000549094 | ENST00000353874 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000549094 | ENST00000261889 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000549094 | ENST00000559844 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-5UTR | ENST00000549094 | ENST00000561026 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
| intron-intron | ENST00000549094 | ENST00000559339 | SMPDL3B | chr1 | 28269989 | + | SNX1 | chr15 | 64404777 | + |
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FusionProtFeatures for SMPDL3B_SNX1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMPDL3B | SNX1 |
| Lipid-modulating phosphodiesterase (PubMed:26095358).Active on the surface of macrophages and dendritic cells andstrongly influences macrophage lipid composition and membranefluidity. Acts as a negative regulator of Toll-like receptorsignaling (By similarity). {ECO:0000250|UniProtKB:P58242,ECO:0000269|PubMed:26095358}. | 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}. |
| 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 SMPDL3B_SNX1 |
| 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 SMPDL3B_SNX1 |
| 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 SMPDL3B_SNX1 |
| 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 SMPDL3B_SNX1 |
| 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)
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