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Fusion gene ID: 14675 |
FusionGeneSummary for GJB3_IGHG1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GJB3_IGHG1 | Fusion gene ID: 14675 | Hgene | Tgene | Gene symbol | GJB3 | IGHG1 | Gene ID | 2707 | 3500 |
| Gene name | gap junction protein beta 3 | immunoglobulin heavy constant gamma 1 (G1m marker) | |
| Synonyms | CX31|DFNA2|DFNA2B|EKV|EKVP1 | - | |
| Cytomap | 1p34.3 | 14q32.33 | |
| Type of gene | protein-coding | other | |
| Description | gap junction beta-3 proteinconnexin 31gap junction protein, beta 3, 31kDa | constant region of heavy chain of IgG1immunoglobulin gamma 1 (Gm marker) | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O75712 | P01857 | |
| Ensembl transtripts involved in fusion gene | ENST00000373366, ENST00000373362, | ENST00000390548, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 32 X 42 X 3=4032 |
| # samples | 1 | 46 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(46/4032*10)=-3.13178987255554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GJB3 [Title/Abstract] AND IGHG1 [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 |
| 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 |
| ChiTaRS3.1 | BE830000 | GJB3 | chr1 | 35250759 | - | IGHG1 | chr14 | 106174365 | + |
| * 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 |
| 5CDS-intron | ENST00000373366 | ENST00000390548 | GJB3 | chr1 | 35250759 | - | IGHG1 | chr14 | 106174365 | + |
| 5CDS-intron | ENST00000373362 | ENST00000390548 | GJB3 | chr1 | 35250759 | - | IGHG1 | chr14 | 106174365 | + |
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FusionProtFeatures for GJB3_IGHG1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GJB3 | IGHG1 |