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Fusion gene ID: 33695 |
FusionGeneSummary for SH3RF2_SLC23A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SH3RF2_SLC23A1 | Fusion gene ID: 33695 | Hgene | Tgene | Gene symbol | SH3RF2 | SLC23A1 | Gene ID | 153769 | 9963 |
| Gene name | SH3 domain containing ring finger 2 | solute carrier family 23 member 1 | |
| Synonyms | HEPP1|POSHER|PPP1R39|RNF158 | SLC23A2|SVCT1|YSPL3 | |
| Cytomap | 5q32 | 5q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | putative E3 ubiquitin-protein ligase SH3RF2POSH-eliminating RING proteinRING finger protein 158RING-type E3 ubiquitin transferase SH3RF2SH3 domain-containing RING finger protein 2heart protein phosphatase 1-binding proteinphosphatase 1 binding prote | solute carrier family 23 member 1Na(+)/L-ascorbic acid transporter 1hSVCT1sodium-dependent vitamin C transporter-1solute carrier family 23 (ascorbic acid transporter), member 1solute carrier family 23 (nucleobase transporters), member 1solute carrie | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8TEC5 | Q9UHI7 | |
| Ensembl transtripts involved in fusion gene | ENST00000359120, ENST00000511217, ENST00000511705, | ENST00000353963, ENST00000348729, ENST00000503919, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SH3RF2 [Title/Abstract] AND SLC23A1 [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 | SH3RF2 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
| Tgene | SLC23A1 | GO:0006814 | sodium ion transport | 18094143 |
| Tgene | SLC23A1 | GO:0009636 | response to toxic substance | 17575980 |
| Tgene | SLC23A1 | GO:0015882 | L-ascorbic acid transmembrane transport | 10631088|11895172|18247577|18417304|19216494 |
| Tgene | SLC23A1 | GO:0070904 | transepithelial L-ascorbic acid transport | 18417304 |
| 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 | LUSC | TCGA-85-A4QQ-01A | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
| * 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 | ENST00000359120 | ENST00000353963 | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
| Frame-shift | ENST00000359120 | ENST00000348729 | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
| 5CDS-intron | ENST00000359120 | ENST00000503919 | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
| Frame-shift | ENST00000511217 | ENST00000353963 | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
| Frame-shift | ENST00000511217 | ENST00000348729 | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
| 5CDS-intron | ENST00000511217 | ENST00000503919 | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
| intron-3CDS | ENST00000511705 | ENST00000353963 | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
| intron-3CDS | ENST00000511705 | ENST00000348729 | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
| intron-intron | ENST00000511705 | ENST00000503919 | SH3RF2 | chr5 | 145317869 | + | SLC23A1 | chr5 | 138707942 | - |
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FusionProtFeatures for SH3RF2_SLC23A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SH3RF2 | SLC23A1 |
| Has E3 ubiquitin-protein ligase activity(PubMed:24130170). Acts as an anti-apoptotic regulator of the JNKpathway by ubiquitinating and promoting the degradation of SH3RF1,a scaffold protein that is required for pro-apoptotic JNKactivation (PubMed:22128169). Facilitates TNF-alpha-mediatedrecruitment of adapter proteins TRADD and RIPK1 to TNFRSF1A andregulates PAK4 protein stability via inhibition of its ubiquitin-mediated proteasomal degradation (PubMed:24130170). InhibitsPPP1CA phosphatase activity (PubMed:19945436, PubMed:19389623).{ECO:0000269|PubMed:19389623, ECO:0000269|PubMed:19945436,ECO:0000269|PubMed:22128169, ECO:0000269|PubMed:24130170}. | Sodium/ascorbate cotransporter. Mediates electrogenicuptake of vitamin C, with a stoichiometry of 2 Na(+) for eachascorbate. |
| 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 SH3RF2_SLC23A1 |
| 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 SH3RF2_SLC23A1 |
| 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 |
| SH3RF2 | UBE2N, PPP1CA, RAC1, SH3RF1, CUL4A, FASLG, APP, PPP1CC, HSP90AA1, CCDC50, DDX1, DDX6, DNTTIP1, EIF4A1, G3BP1, KARS, LSM12, NSMAF, NUFIP2, PAK4, PCMT1, RAD23A, U2AF2, GOLGA2, RBPMS, MTUS2, AMOTL2, BANP, HOMEZ, LZTS2, SPERT, CENPJ, LMNA | SLC23A1 | KRT31, AHCYL1, MTUS2, ADAMTSL4, KRTAP4-2, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-5, KRTAP10-8, KRTAP10-3, NOTCH2NL |
| - 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 SH3RF2_SLC23A1 |
| 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 |
| Tgene | SLC23A1 | Q9UHI7 | DB00126 | Vitamin C | Solute carrier family 23 member 1 | small molecule | approved|nutraceutical |
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RelatedDiseases for SH3RF2_SLC23A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SLC23A1 | C0008370 | Cholestasis | 1 | CTD_human |
| Tgene | SLC23A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | SLC23A1 | C0035229 | Respiratory Insufficiency | 1 | CTD_human |
| Tgene | SLC23A1 | C0151699 | Intracranial Hemorrhages | 1 | CTD_human |
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