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Fusion gene ID: 2519 |
FusionGeneSummary for ARHGEF12_GRIK4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARHGEF12_GRIK4 | Fusion gene ID: 2519 | Hgene | Tgene | Gene symbol | ARHGEF12 | GRIK4 | Gene ID | 23365 | 2900 |
| Gene name | Rho guanine nucleotide exchange factor 12 | glutamate ionotropic receptor kainate type subunit 4 | |
| Synonyms | LARG|PRO2792 | EAA1|GRIK|GluK4|KA1 | |
| Cytomap | 11q23.3 | 11q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factor | glutamate receptor ionotropic, kainate 4excitatory amino acid receptor 1glutamate receptor KA1glutamate receptor, ionotropic, kainate 4 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NZN5 | Q16099 | |
| Ensembl transtripts involved in fusion gene | ENST00000397843, ENST00000356641, ENST00000532993, | ENST00000527524, ENST00000438375, ENST00000527130, | |
| Fusion gene scores | * DoF score | 11 X 8 X 8=704 | 5 X 5 X 6=150 |
| # samples | 14 | 6 | |
| ** MAII score | log2(14/704*10)=-2.33014860169233 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ARHGEF12 [Title/Abstract] AND GRIK4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | 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 | ARHGEF12 | GO:0007186 | G-protein coupled receptor signaling pathway | 15755723 |
| 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 | BLCA | TCGA-GV-A3QI-01A | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| TCGA | LD | PRAD | TCGA-VP-A87J-01A | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
| * 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 | ENST00000397843 | ENST00000527524 | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| Frame-shift | ENST00000397843 | ENST00000438375 | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| 5CDS-intron | ENST00000397843 | ENST00000527130 | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| Frame-shift | ENST00000356641 | ENST00000527524 | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| Frame-shift | ENST00000356641 | ENST00000438375 | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| 5CDS-intron | ENST00000356641 | ENST00000527130 | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| Frame-shift | ENST00000532993 | ENST00000527524 | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| Frame-shift | ENST00000532993 | ENST00000438375 | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| 5CDS-intron | ENST00000532993 | ENST00000527130 | ARHGEF12 | chr11 | 120302620 | + | GRIK4 | chr11 | 120673402 | + |
| Frame-shift | ENST00000397843 | ENST00000527524 | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
| Frame-shift | ENST00000397843 | ENST00000438375 | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
| 5CDS-intron | ENST00000397843 | ENST00000527130 | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
| Frame-shift | ENST00000356641 | ENST00000527524 | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
| Frame-shift | ENST00000356641 | ENST00000438375 | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
| 5CDS-intron | ENST00000356641 | ENST00000527130 | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
| intron-3CDS | ENST00000532993 | ENST00000527524 | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
| intron-3CDS | ENST00000532993 | ENST00000438375 | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
| intron-intron | ENST00000532993 | ENST00000527130 | ARHGEF12 | chr11 | 120207984 | + | GRIK4 | chr11 | 120811056 | + |
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FusionProtFeatures for ARHGEF12_GRIK4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARHGEF12 | GRIK4 |