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Fusion gene ID: 33752 |
FusionGeneSummary for SHB_VPS53 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SHB_VPS53 | Fusion gene ID: 33752 | Hgene | Tgene | Gene symbol | SHB | VPS53 | Gene ID | 6461 | 55275 |
| Gene name | SH2 domain containing adaptor protein B | VPS53, GARP complex subunit | |
| Synonyms | bA3J10.2 | HCCS1|PCH2E|hVps53L|pp13624 | |
| Cytomap | 9p13.1 | 17p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SH2 domain-containing adapter protein BSHB (Src homology 2 domain containing) adaptor protein BSHB adaptor protein (a Src homology 2 protein)Src homology 2 domain containing adaptor protein B | vacuolar protein sorting-associated protein 53 homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q15464 | Q5VIR6 | |
| Ensembl transtripts involved in fusion gene | ENST00000377707, ENST00000377700, | ENST00000437048, ENST00000574029, ENST00000576149, ENST00000446250, ENST00000291074, ENST00000571805, ENST00000401468, | |
| Fusion gene scores | * DoF score | 12 X 7 X 8=672 | 8 X 5 X 6=240 |
| # samples | 13 | 7 | |
| ** MAII score | log2(13/672*10)=-2.36994960975031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/240*10)=-1.77760757866355 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SHB [Title/Abstract] AND VPS53 [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 |
| 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 | AW449261 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| * 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-3CDS | ENST00000377707 | ENST00000437048 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-intron | ENST00000377707 | ENST00000574029 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377707 | ENST00000576149 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377707 | ENST00000446250 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377707 | ENST00000291074 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377707 | ENST00000571805 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377707 | ENST00000401468 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-3CDS | ENST00000377700 | ENST00000437048 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-intron | ENST00000377700 | ENST00000574029 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377700 | ENST00000576149 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377700 | ENST00000446250 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377700 | ENST00000291074 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377700 | ENST00000571805 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
| intron-5UTR | ENST00000377700 | ENST00000401468 | SHB | chr9 | 37919601 | + | VPS53 | chr17 | 436123 | + |
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FusionProtFeatures for SHB_VPS53 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SHB | VPS53 |
| Adapter protein which regulates several signaltransduction cascades by linking activated receptors to downstreamsignaling components. May play a role in angiogenesis byregulating FGFR1, VEGFR2 and PDGFR signaling. May also play a rolein T-cell antigen receptor/TCR signaling, interleukin-2 signaling,apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 andIRS2 signaling in insulin-producing cells.{ECO:0000269|PubMed:10828022, ECO:0000269|PubMed:10837138,ECO:0000269|PubMed:12084069, ECO:0000269|PubMed:12464388,ECO:0000269|PubMed:12520086, ECO:0000269|PubMed:15026417,ECO:0000269|PubMed:15919073, ECO:0000269|PubMed:8806685,ECO:0000269|PubMed:9484780, ECO:0000269|PubMed:9751119}. | Acts as component of the GARP complex that is involvedin retrograde transport from early and late endosomes to thetrans-Golgi network (TGN). The GARP complex is required for themaintenance of the cycling of mannose 6-phosphate receptorsbetween the TGN and endosomes, this cycling is necessary forproper lysosomal sorting of acid hydrolases such as CTSD(PubMed:15878329, PubMed:18367545). Acts as component of the EARPcomplex that is involved in endocytic recycling. The EARP complexassociates with Rab4-positive endosomes and promotes recycling ofinternalized transferrin receptor (TFRC) to the plasma membrane(PubMed:25799061). {ECO:0000269|PubMed:15878329,ECO:0000269|PubMed:18367545, ECO:0000269|PubMed:25799061}. |
| 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 SHB_VPS53 |
| 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 SHB_VPS53 |
| 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 SHB_VPS53 |
| 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 SHB_VPS53 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | VPS53 | C4014488 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | 1 | UNIPROT |
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