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Fusion gene ID: 32323 |
FusionGeneSummary for RTCB_FAM83F |
Fusion gene summary |
| Fusion gene information | Fusion gene name: RTCB_FAM83F | Fusion gene ID: 32323 | Hgene | Tgene | Gene symbol | RTCB | FAM83F | Gene ID | 51493 | 113828 |
| Gene name | RNA 2',3'-cyclic phosphate and 5'-OH ligase | family with sequence similarity 83 member F | |
| Synonyms | C22orf28|DJ149A16.6|FAAP|HSPC117 | - | |
| Cytomap | 22q12.3 | 22q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tRNA-splicing ligase RtcB homologankyrin repeat domain 54focal adhesion-associated protein | protein FAM83F | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q9Y3I0 | Q8NEG4 | |
| Ensembl transtripts involved in fusion gene | ENST00000216038, ENST00000451746, ENST00000476619, | ENST00000333407, ENST00000488874, ENST00000473717, | |
| Fusion gene scores | * DoF score | 2 X 3 X 2=12 | 2 X 2 X 2=8 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/8*10)=1.90689059560852 | |
| Context | PubMed: RTCB [Title/Abstract] AND FAM83F [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 | RTCB | GO:0006388 | tRNA splicing, via endonucleolytic cleavage and ligation | 21311021|24870230 |
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 | SKCM | TCGA-EB-A3Y6-01A | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
| * 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 | ENST00000216038 | ENST00000333407 | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
| 5CDS-intron | ENST00000216038 | ENST00000488874 | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
| 5CDS-intron | ENST00000216038 | ENST00000473717 | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
| Frame-shift | ENST00000451746 | ENST00000333407 | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
| 5CDS-intron | ENST00000451746 | ENST00000488874 | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
| 5CDS-intron | ENST00000451746 | ENST00000473717 | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
| 5UTR-3CDS | ENST00000476619 | ENST00000333407 | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
| 5UTR-intron | ENST00000476619 | ENST00000488874 | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
| 5UTR-intron | ENST00000476619 | ENST00000473717 | RTCB | chr22 | 32802649 | - | FAM83F | chr22 | 40425520 | + |
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FusionProtFeatures for RTCB_FAM83F |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RTCB | FAM83F |