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Fusion gene ID: 11634 |
FusionGeneSummary for ENPEP_CEP250 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: ENPEP_CEP250 | Fusion gene ID: 11634 | Hgene | Tgene | Gene symbol | ENPEP | CEP250 | Gene ID | 2028 | 11190 |
| Gene name | glutamyl aminopeptidase | centrosomal protein 250 | |
| Synonyms | APA|CD249|gp160 | C-NAP1|CEP2|CNAP1 | |
| Cytomap | 4q25 | 20q11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | glutamyl aminopeptidaseAP-AEAPaminopeptidase Adifferentiation antigen gp160 | centrosome-associated protein CEP250250 kDa centrosomal proteincentrosomal Nek2-associated protein 1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q07075 | Q9BV73 | |
| Ensembl transtripts involved in fusion gene | ENST00000265162, ENST00000504100, | ENST00000397527, ENST00000342580, ENST00000476146, ENST00000397524, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 6 X 4=144 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ENPEP [Title/Abstract] AND CEP250 [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 | ENPEP | GO:0003081 | regulation of systemic arterial blood pressure by renin-angiotensin | 19608358 |
| Hgene | ENPEP | GO:0008283 | cell proliferation | 14998491 |
| Hgene | ENPEP | GO:0016477 | cell migration | 14998491 |
| Tgene | CEP250 | GO:0000278 | mitotic cell cycle | 12140259 |
| Tgene | CEP250 | GO:0030997 | regulation of centriole-centriole cohesion | 9647649 |
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 | CD700372 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
| * 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 |
| intron-intron | ENST00000265162 | ENST00000397527 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
| intron-intron | ENST00000265162 | ENST00000342580 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
| intron-intron | ENST00000265162 | ENST00000476146 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
| intron-intron | ENST00000265162 | ENST00000397524 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
| intron-intron | ENST00000504100 | ENST00000397527 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
| intron-intron | ENST00000504100 | ENST00000342580 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
| intron-intron | ENST00000504100 | ENST00000476146 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
| intron-intron | ENST00000504100 | ENST00000397524 | ENPEP | chr4 | 111443627 | + | CEP250 | chr20 | 34075507 | - |
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FusionProtFeatures for ENPEP_CEP250 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ENPEP | CEP250 |