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Fusion gene ID: 14845 |
FusionGeneSummary for GNAI3_CASQ2 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: GNAI3_CASQ2 | Fusion gene ID: 14845 | Hgene | Tgene | Gene symbol | GNAI3 | CASQ2 | Gene ID | 2773 | 845 |
| Gene name | G protein subunit alpha i3 | calsequestrin 2 | |
| Synonyms | 87U6|ARCND1 | PDIB2 | |
| Cytomap | 1p13.3 | 1p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | guanine nucleotide-binding protein G(k) subunit alphag(i) alpha-3guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 | calsequestrin-2calsequestrin 2 (cardiac muscle)calsequestrin 2, fast-twitch, cardiac musclecalsequestrin, cardiac muscle isoform | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P08754 | O14958 | |
| Ensembl transtripts involved in fusion gene | ENST00000369851, | ENST00000261448, ENST00000456138, ENST00000488931, | |
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 3 X 2 X 2=12 |
| # samples | 8 | 3 | |
| ** MAII score | log2(8/144*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: GNAI3 [Title/Abstract] AND CASQ2 [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 | GNAI3 | GO:0007193 | adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway | 19478087 |
| Hgene | GNAI3 | GO:0007212 | dopamine receptor signaling pathway | 19478087 |
| Hgene | GNAI3 | GO:0046039 | GTP metabolic process | 19478087 |
| Hgene | GNAI3 | GO:0051301 | cell division | 17635935 |
| Tgene | CASQ2 | GO:0051208 | sequestering of calcium ion | 16601229 |
| Tgene | CASQ2 | GO:0051258 | protein polymerization | 17881003|22123818 |
| Tgene | CASQ2 | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 16601229 |
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 | BRCA | TCGA-AR-A24Q-01A | GNAI3 | chr1 | 110091460 | + | CASQ2 | chr1 | 116287533 | - |
| * 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 | ENST00000369851 | ENST00000261448 | GNAI3 | chr1 | 110091460 | + | CASQ2 | chr1 | 116287533 | - |
| Frame-shift | ENST00000369851 | ENST00000456138 | GNAI3 | chr1 | 110091460 | + | CASQ2 | chr1 | 116287533 | - |
| 5CDS-intron | ENST00000369851 | ENST00000488931 | GNAI3 | chr1 | 110091460 | + | CASQ2 | chr1 | 116287533 | - |
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FusionProtFeatures for GNAI3_CASQ2 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GNAI3 | CASQ2 |