|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 5210 |
FusionGeneSummary for CACNA2D1_PTPN12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CACNA2D1_PTPN12 | Fusion gene ID: 5210 | Hgene | Tgene | Gene symbol | CACNA2D1 | PTPN12 | Gene ID | 781 | 5782 |
| Gene name | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | protein tyrosine phosphatase, non-receptor type 12 | |
| Synonyms | CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3 | PTP-PEST|PTPG1 | |
| Cytomap | 7q21.11 | 7q11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | voltage-dependent calcium channel subunit alpha-2/delta-1calcium channel, L type, alpha 2 polypeptidecalcium channel, voltage-dependent, alpha 2/delta subunit 1dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunitvoltage-gated calciu | tyrosine-protein phosphatase non-receptor type 12protein-tyrosine phosphatase G1 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | P54289 | Q05209 | |
| Ensembl transtripts involved in fusion gene | ENST00000356860, ENST00000356253, ENST00000423588, ENST00000464354, ENST00000535308, | ENST00000248594, ENST00000415482, ENST00000435495, | |
| Fusion gene scores | * DoF score | 5 X 7 X 4=140 | 7 X 7 X 5=245 |
| # samples | 9 | 7 | |
| ** MAII score | log2(9/140*10)=-0.637429920615292 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CACNA2D1 [Title/Abstract] AND PTPN12 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | CACNA2D1 | GO:0006816 | calcium ion transport | 1309651|11160515 |
| Hgene | CACNA2D1 | GO:0051924 | regulation of calcium ion transport | 1309651 |
| Tgene | PTPN12 | GO:0006470 | protein dephosphorylation | 27134172 |
| Tgene | PTPN12 | GO:0035335 | peptidyl-tyrosine dephosphorylation | 27134172 |
| 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 | SARC | TCGA-K1-A6RT-01A | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| * 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 |
| In-frame | ENST00000356860 | ENST00000248594 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| 5CDS-5UTR | ENST00000356860 | ENST00000415482 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| 5CDS-5UTR | ENST00000356860 | ENST00000435495 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| In-frame | ENST00000356253 | ENST00000248594 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| 5CDS-5UTR | ENST00000356253 | ENST00000415482 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| 5CDS-5UTR | ENST00000356253 | ENST00000435495 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| In-frame | ENST00000423588 | ENST00000248594 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| 5CDS-5UTR | ENST00000423588 | ENST00000415482 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| 5CDS-5UTR | ENST00000423588 | ENST00000435495 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| intron-3CDS | ENST00000464354 | ENST00000248594 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| intron-5UTR | ENST00000464354 | ENST00000415482 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| intron-5UTR | ENST00000464354 | ENST00000435495 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| intron-3CDS | ENST00000535308 | ENST00000248594 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| intron-5UTR | ENST00000535308 | ENST00000415482 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
| intron-5UTR | ENST00000535308 | ENST00000435495 | CACNA2D1 | chr7 | 81964451 | - | PTPN12 | chr7 | 77200395 | + |
Top |
FusionProtFeatures for CACNA2D1_PTPN12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CACNA2D1 | PTPN12 |