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Fusion gene ID: 12205 |
FusionGeneSummary for EVC2_TMED11P |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EVC2_TMED11P | Fusion gene ID: 12205 | Hgene | Tgene | Gene symbol | EVC2 | TMED11P | Gene ID | 132884 | 100379220 |
| Gene name | EvC ciliary complex subunit 2 | transmembrane p24 trafficking protein 11, pseudogene | |
| Synonyms | LBN|WAD | p24a1|p24alpha1 | |
| Cytomap | 4p16.2 | 4p16.3 | |
| Type of gene | protein-coding | pseudo | |
| Description | limbinEllis van Creveld syndrome 2ellis-van Creveld syndrome protein 2 | transmembrane emp24 protein transport domain containing 11, pseudogene | |
| Modification date | 20180519 | 20180329 | |
| UniProtAcc | Q86UK5 | ||
| Ensembl transtripts involved in fusion gene | ENST00000344938, ENST00000344408, ENST00000310917, | ENST00000502630, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: EVC2 [Title/Abstract] AND TMED11P [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 | LD | SARC | TCGA-X6-A8C5-01A | EVC2 | chr4 | 5664834 | - | TMED11P | chr4 | 1110198 | - |
| * 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 |
| 5CDS-5UTR | ENST00000344938 | ENST00000502630 | EVC2 | chr4 | 5664834 | - | TMED11P | chr4 | 1110198 | - |
| 5CDS-5UTR | ENST00000344408 | ENST00000502630 | EVC2 | chr4 | 5664834 | - | TMED11P | chr4 | 1110198 | - |
| 5CDS-5UTR | ENST00000310917 | ENST00000502630 | EVC2 | chr4 | 5664834 | - | TMED11P | chr4 | 1110198 | - |
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FusionProtFeatures for EVC2_TMED11P |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EVC2 | TMED11P |