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Fusion gene ID: 11567 |
FusionGeneSummary for EML4_VPS54 |
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Fusion gene information | Fusion gene name: EML4_VPS54 | Fusion gene ID: 11567 | Hgene | Tgene | Gene symbol | EML4 | VPS54 | Gene ID | 27436 | 51542 |
Gene name | echinoderm microtubule associated protein like 4 | VPS54, GARP complex subunit | |
Synonyms | C2orf2|ELP120|EMAP-4|EMAPL4|ROPP120 | HCC8|PPP1R164|SLP-8p|VPS54L|WR|hVps54L | |
Cytomap | 2p21 | 2p15-p14 | |
Type of gene | protein-coding | protein-coding | |
Description | echinoderm microtubule-associated protein-like 4restrictedly overexpressed proliferation-associated proteinropp 120 | 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 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9HC35 | Q9P1Q0 | |
Ensembl transtripts involved in fusion gene | ENST00000318522, ENST00000402711, ENST00000482660, ENST00000401738, ENST00000453191, | ENST00000409558, ENST00000272322, ENST00000354504, | |
Fusion gene scores | * DoF score | 9 X 17 X 13=1989 | 5 X 5 X 4=100 |
# samples | 27 | 5 | |
** MAII score | log2(27/1989*10)=-2.88101196378291 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EML4 [Title/Abstract] AND VPS54 [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 | LIHC | TCGA-BC-A69I-01A | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
* 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 |
Frame-shift | ENST00000318522 | ENST00000409558 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
Frame-shift | ENST00000318522 | ENST00000272322 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
Frame-shift | ENST00000318522 | ENST00000354504 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
Frame-shift | ENST00000402711 | ENST00000409558 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
Frame-shift | ENST00000402711 | ENST00000272322 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
Frame-shift | ENST00000402711 | ENST00000354504 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
intron-3CDS | ENST00000482660 | ENST00000409558 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
intron-3CDS | ENST00000482660 | ENST00000272322 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
intron-3CDS | ENST00000482660 | ENST00000354504 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
Frame-shift | ENST00000401738 | ENST00000409558 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
Frame-shift | ENST00000401738 | ENST00000272322 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
Frame-shift | ENST00000401738 | ENST00000354504 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
5UTR-3CDS | ENST00000453191 | ENST00000409558 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
5UTR-3CDS | ENST00000453191 | ENST00000272322 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
5UTR-3CDS | ENST00000453191 | ENST00000354504 | EML4 | chr2 | 42531691 | + | VPS54 | chr2 | 64120669 | - |
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FusionProtFeatures for EML4_VPS54 |
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Hgene | Tgene |
EML4 | VPS54 |
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}. |
![]() * 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 EML4_VPS54 |
![]() (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 EML4_VPS54 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
EML4 | NEK6, ARL4D, ARIH2, ELAVL1, EML4, ILK, PRPS1, TUBB2A, TUBB2B, FBXW11, NTRK1, SPICE1, DCTN1, TFEB, NUDC, EML1, FBXO28, TUBB3, CTAGE5, TUBB, TKT, PHKG2, NEK7 | VPS54 | VPS52, VPS53, VPS51, STX6, CCDC132, TSSC1, SYN1, C10orf76, PTAR1, RAB1A, RAB1B |
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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 EML4_VPS54 |
![]() (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 EML4_VPS54 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EML4 | C0007131 | Non-Small Cell Lung Carcinoma | 6 | CTD_human |
Hgene | EML4 | C0027627 | Neoplasm Metastasis | 2 | CTD_human |
Hgene | EML4 | C0152013 | Adenocarcinoma of lung (disorder) | 2 | CTD_human |
Hgene | EML4 | C0006118 | Brain Neoplasms | 1 | CTD_human |
Tgene | VPS54 | C0027746 | Nerve Degeneration | 1 | CTD_human |