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Fusion gene ID: 41635 |
FusionGeneSummary for VPS54_PELI1 |
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Fusion gene information | Fusion gene name: VPS54_PELI1 | Fusion gene ID: 41635 | Hgene | Tgene | Gene symbol | VPS54 | PELI1 | Gene ID | 51542 | 57162 |
Gene name | VPS54, GARP complex subunit | pellino E3 ubiquitin protein ligase 1 | |
Synonyms | HCC8|PPP1R164|SLP-8p|VPS54L|WR|hVps54L | - | |
Cytomap | 2p15-p14 | 2p14 | |
Type of gene | protein-coding | protein-coding | |
Description | vacuolar protein sorting-associated protein 54hepatocellular carcinoma protein 8protein phosphatase 1, regulatory subunit 164tumor antigen HOM-HCC-8tumor antigen SLP-8pvacuolar protein sorting 54 homolog | E3 ubiquitin-protein ligase pellino homolog 1RING-type E3 ubiquitin transferase pellino homolog 1pellino homolog 1pellino-1pellino-related intracellular-signaling moleculeprotein pellino homolog 1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9P1Q0 | Q96FA3 | |
Ensembl transtripts involved in fusion gene | ENST00000409558, ENST00000272322, ENST00000354504, | ENST00000358912, ENST00000466177, | |
Fusion gene scores | * DoF score | 3 X 4 X 3=36 | 1 X 1 X 2=2 |
# samples | 5 | 2 | |
** MAII score | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/2*10)=3.32192809488736 | |
Context | PubMed: VPS54 [Title/Abstract] AND PELI1 [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 |
![]() (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 | BLCA | TCGA-G2-A2EF-01A | VPS54 | chr2 | 64246072 | - | PELI1 | chr2 | 64335513 | - |
TCGA | RV | STAD | TCGA-BR-8678-01A | VPS54 | chr2 | 64210998 | - | PELI1 | chr2 | 64335513 | - |
* 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 |
5UTR-5UTR | ENST00000409558 | ENST00000358912 | VPS54 | chr2 | 64246072 | - | PELI1 | chr2 | 64335513 | - |
5UTR-5UTR | ENST00000409558 | ENST00000466177 | VPS54 | chr2 | 64246072 | - | PELI1 | chr2 | 64335513 | - |
5UTR-5UTR | ENST00000272322 | ENST00000358912 | VPS54 | chr2 | 64246072 | - | PELI1 | chr2 | 64335513 | - |
5UTR-5UTR | ENST00000272322 | ENST00000466177 | VPS54 | chr2 | 64246072 | - | PELI1 | chr2 | 64335513 | - |
intron-5UTR | ENST00000354504 | ENST00000358912 | VPS54 | chr2 | 64246072 | - | PELI1 | chr2 | 64335513 | - |
intron-5UTR | ENST00000354504 | ENST00000466177 | VPS54 | chr2 | 64246072 | - | PELI1 | chr2 | 64335513 | - |
5CDS-5UTR | ENST00000409558 | ENST00000358912 | VPS54 | chr2 | 64210998 | - | PELI1 | chr2 | 64335513 | - |
5CDS-5UTR | ENST00000409558 | ENST00000466177 | VPS54 | chr2 | 64210998 | - | PELI1 | chr2 | 64335513 | - |
5CDS-5UTR | ENST00000272322 | ENST00000358912 | VPS54 | chr2 | 64210998 | - | PELI1 | chr2 | 64335513 | - |
5CDS-5UTR | ENST00000272322 | ENST00000466177 | VPS54 | chr2 | 64210998 | - | PELI1 | chr2 | 64335513 | - |
intron-5UTR | ENST00000354504 | ENST00000358912 | VPS54 | chr2 | 64210998 | - | PELI1 | chr2 | 64335513 | - |
intron-5UTR | ENST00000354504 | ENST00000466177 | VPS54 | chr2 | 64210998 | - | PELI1 | chr2 | 64335513 | - |
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FusionProtFeatures for VPS54_PELI1 |
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Hgene | Tgene |
VPS54 | PELI1 |
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:18367545). Within the GARP complex, required to tether thecomplex to the TGN. Not involved in endocytic recycling(PubMed:25799061). {ECO:0000269|PubMed:18367545,ECO:0000269|PubMed:25799061}. | E3 ubiquitin ligase catalyzing the covalent attachmentof ubiquitin moieties onto substrate proteins. Involved in the TLRand IL-1 signaling pathways via interaction with the complexcontaining IRAK kinases and TRAF6. Mediates 'Lys-63'-linkedpolyubiquitination of IRAK1 allowing subsequent NF-kappa-Bactivation. {ECO:0000269|PubMed:12496252,ECO:0000269|PubMed:17675297}. |
![]() * 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 VPS54_PELI1 |
![]() (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 VPS54_PELI1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
VPS54 | VPS52, VPS53, VPS51, STX6, CCDC132, TSSC1, SYN1, C10orf76, PTAR1, RAB1A, RAB1B | PELI1 | IRAK1, IRAK4, IRAK2, RIPK1, UBE2I, UBC, TBK1, IKBKB, TRAF6, IL1R1, SMAD6, MYD88, NR2C2, UBE2N, UBE2V1, UBE2D1, UBE2D2, DEAF1, SRPK2, SRPK1, BCL6, TRIP13, VAC14, IRS1, BIRC3, MDM4 |
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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 VPS54_PELI1 |
![]() (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 VPS54_PELI1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | VPS54 | C0027746 | Nerve Degeneration | 1 | CTD_human |
Tgene | PELI1 | C0037274 | Dermatologic disorders | 1 | CTD_human |
Tgene | PELI1 | C0311375 | Arsenic Poisoning | 1 | CTD_human |