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Fusion gene ID: 11567 |
FusionGeneSummary for EML4_VPS54 |
 Fusion gene summary |
| 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) |
| 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 |
| 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 |
| 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 | 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 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EML4 | VPS54 |