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Fusion gene ID: 6156 |
FusionGeneSummary for CD2AP_DVL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CD2AP_DVL1 | Fusion gene ID: 6156 | Hgene | Tgene | Gene symbol | CD2AP | DVL1 | Gene ID | 23607 | 1855 |
| Gene name | CD2 associated protein | dishevelled segment polarity protein 1 | |
| Synonyms | CMS | DRS2|DVL|DVL1L1|DVL1P1 | |
| Cytomap | 6p12.3 | 1p36.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domains | segment polarity protein dishevelled homolog DVL-1DSH homolog 1dishevelled 1 (homologous to Drosophila dsh)dishevelled, dsh homolog 1dishevelled-1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9Y5K6 | O14640 | |
| Ensembl transtripts involved in fusion gene | ENST00000359314, ENST00000486693, | ENST00000378891, ENST00000378888, | |
| Fusion gene scores | * DoF score | 13 X 6 X 10=780 | 3 X 1 X 4=12 |
| # samples | 13 | 4 | |
| ** MAII score | log2(13/780*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CD2AP [Title/Abstract] AND DVL1 [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 | DVL1 | GO:0006366 | transcription by RNA polymerase II | 11742073 |
| Tgene | DVL1 | GO:0006469 | negative regulation of protein kinase activity | 10330181 |
| Tgene | DVL1 | GO:0030177 | positive regulation of Wnt signaling pathway | 11113207 |
| Tgene | DVL1 | GO:0032091 | negative regulation of protein binding | 19643732 |
| Tgene | DVL1 | GO:0045893 | positive regulation of transcription, DNA-templated | 12805222|17593335 |
| Tgene | DVL1 | GO:0050821 | protein stabilization | 19625296 |
| Tgene | DVL1 | GO:0060070 | canonical Wnt signaling pathway | 11113207|12556519|14747478|17593335 |
| Tgene | DVL1 | GO:0060071 | Wnt signaling pathway, planar cell polarity pathway | 12805222 |
| Tgene | DVL1 | GO:1903827 | regulation of cellular protein localization | 19625296 |
| 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 | LUAD | TCGA-93-A4JO-01A | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
| * 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 | ENST00000359314 | ENST00000378891 | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
| Frame-shift | ENST00000359314 | ENST00000378888 | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
| intron-3CDS | ENST00000486693 | ENST00000378891 | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
| intron-3CDS | ENST00000486693 | ENST00000378888 | CD2AP | chr6 | 47445984 | + | DVL1 | chr1 | 1278138 | - |
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FusionProtFeatures for CD2AP_DVL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CD2AP | DVL1 |