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Fusion gene ID: 8285 |
FusionGeneSummary for CPNE8_CILP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CPNE8_CILP | Fusion gene ID: 8285 | Hgene | Tgene | Gene symbol | CPNE8 | CILP | Gene ID | 144402 | 8483 |
| Gene name | copine 8 | cartilage intermediate layer protein | |
| Synonyms | - | CILP-1|HsT18872 | |
| Cytomap | 12q12 | 15q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | copine-8copine VIII | cartilage intermediate layer protein 1cartilage intermediate layer protein 1 C1cartilage intermediate layer protein 1 C2cartilage intermediate layer protein, nucleotide pyrophosphohydrolase | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q86YQ8 | O75339 | |
| Ensembl transtripts involved in fusion gene | ENST00000331366, ENST00000538596, ENST00000546603, ENST00000360449, | ENST00000261883, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 2 X 2 X 2=8 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CPNE8 [Title/Abstract] AND CILP [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 |
| Tgene | CILP | GO:0043569 | negative regulation of insulin-like growth factor receptor signaling pathway | 12746903 |
| 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 | MESO | TCGA-3U-A98F-01A | CPNE8 | chr12 | 39170040 | - | CILP | chr15 | 65496920 | - |
| * 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 | ENST00000331366 | ENST00000261883 | CPNE8 | chr12 | 39170040 | - | CILP | chr15 | 65496920 | - |
| intron-3CDS | ENST00000538596 | ENST00000261883 | CPNE8 | chr12 | 39170040 | - | CILP | chr15 | 65496920 | - |
| intron-3CDS | ENST00000546603 | ENST00000261883 | CPNE8 | chr12 | 39170040 | - | CILP | chr15 | 65496920 | - |
| Frame-shift | ENST00000360449 | ENST00000261883 | CPNE8 | chr12 | 39170040 | - | CILP | chr15 | 65496920 | - |
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FusionProtFeatures for CPNE8_CILP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CPNE8 | CILP |