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Fusion gene ID: 41616 |
FusionGeneSummary for VPS4A_VPS4A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VPS4A_VPS4A | Fusion gene ID: 41616 | Hgene | Tgene | Gene symbol | VPS4A | VPS4A | Gene ID | 27183 | 27183 |
| Gene name | vacuolar protein sorting 4 homolog A | vacuolar protein sorting 4 homolog A | |
| Synonyms | SKD1|SKD1A|SKD2|VPS4|VPS4-1 | SKD1|SKD1A|SKD2|VPS4|VPS4-1 | |
| Cytomap | 16q22.1 | 16q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vacuolar protein sorting-associated protein 4ASKD1-homologhVPS4vacuolar protein sorting factor 4Avacuolar sorting protein 4 | vacuolar protein sorting-associated protein 4ASKD1-homologhVPS4vacuolar protein sorting factor 4Avacuolar sorting protein 4 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UN37 | Q9UN37 | |
| Ensembl transtripts involved in fusion gene | ENST00000254950, ENST00000564399, | ENST00000254950, ENST00000564399, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 4 X 2 X 4=32 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: VPS4A [Title/Abstract] AND VPS4A [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 | VPS4A | GO:0016192 | vesicle-mediated transport | 11563910 |
| Hgene | VPS4A | GO:0032880 | regulation of protein localization | 18005716 |
| Hgene | VPS4A | GO:0051301 | cell division | 17853893 |
| Tgene | VPS4A | GO:0016192 | vesicle-mediated transport | 11563910 |
| Tgene | VPS4A | GO:0032880 | regulation of protein localization | 18005716 |
| Tgene | VPS4A | GO:0051301 | cell division | 17853893 |
| 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 | BQ334182 | VPS4A | chr16 | 69353383 | - | VPS4A | chr16 | 69353425 | + |
| * 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 | ENST00000254950 | ENST00000254950 | VPS4A | chr16 | 69353383 | - | VPS4A | chr16 | 69353425 | + |
| 5CDS-intron | ENST00000254950 | ENST00000564399 | VPS4A | chr16 | 69353383 | - | VPS4A | chr16 | 69353425 | + |
| intron-3CDS | ENST00000564399 | ENST00000254950 | VPS4A | chr16 | 69353383 | - | VPS4A | chr16 | 69353425 | + |
| intron-intron | ENST00000564399 | ENST00000564399 | VPS4A | chr16 | 69353383 | - | VPS4A | chr16 | 69353425 | + |
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FusionProtFeatures for VPS4A_VPS4A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VPS4A | VPS4A |
| Involved in late steps of the endosomal multivesicularbodies (MVB) pathway. Recognizes membrane-associated ESCRT-IIIassemblies and catalyzes their disassembly, possibly incombination with membrane fission. Redistributes the ESCRT-IIIcomponents to the cytoplasm for further rounds of MVB sorting.MVBs contain intraluminal vesicles (ILVs) that are generated byinvagination and scission from the limiting membrane of theendosome and mostly are delivered to lysosomes enablingdegradation of membrane proteins, such as stimulated growth factorreceptors, lysosomal enzymes and lipids. In conjunction with theESCRT machinery also appears to function in topologicallyequivalent membrane fission events, such as the terminal stages ofcytokinesis and enveloped virus budding (HIV-1 and otherlentiviruses). Involved in cytokinesis: retained at the midbody byZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling isterminated at late cytokinesis. It is then released followingdephosphorylation of CHMP4C, leading to abscission(PubMed:24814515). VPS4A/B are required for the exosomal releaseof SDCBP, CD63 and syndecan (PubMed:22660413).{ECO:0000269|PubMed:11563910, ECO:0000269|PubMed:11595185,ECO:0000269|PubMed:15075231, ECO:0000269|PubMed:22660413,ECO:0000269|PubMed:24814515}. | Involved in late steps of the endosomal multivesicularbodies (MVB) pathway. Recognizes membrane-associated ESCRT-IIIassemblies and catalyzes their disassembly, possibly incombination with membrane fission. Redistributes the ESCRT-IIIcomponents to the cytoplasm for further rounds of MVB sorting.MVBs contain intraluminal vesicles (ILVs) that are generated byinvagination and scission from the limiting membrane of theendosome and mostly are delivered to lysosomes enablingdegradation of membrane proteins, such as stimulated growth factorreceptors, lysosomal enzymes and lipids. In conjunction with theESCRT machinery also appears to function in topologicallyequivalent membrane fission events, such as the terminal stages ofcytokinesis and enveloped virus budding (HIV-1 and otherlentiviruses). Involved in cytokinesis: retained at the midbody byZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling isterminated at late cytokinesis. It is then released followingdephosphorylation of CHMP4C, leading to abscission(PubMed:24814515). VPS4A/B are required for the exosomal releaseof SDCBP, CD63 and syndecan (PubMed:22660413).{ECO:0000269|PubMed:11563910, ECO:0000269|PubMed:11595185,ECO:0000269|PubMed:15075231, ECO:0000269|PubMed:22660413,ECO:0000269|PubMed:24814515}. |
| 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 VPS4A_VPS4A |
| 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 VPS4A_VPS4A |
| 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 VPS4A_VPS4A |
| 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 VPS4A_VPS4A |
| 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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