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Fusion gene ID: 30635 |
FusionGeneSummary for RBBP8_FAM126A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBBP8_FAM126A | Fusion gene ID: 30635 | Hgene | Tgene | Gene symbol | RBBP8 | FAM126A | Gene ID | 5932 | 84668 |
| Gene name | RB binding protein 8, endonuclease | family with sequence similarity 126 member A | |
| Synonyms | COM1|CTIP|JWDS|RIM|SAE2|SCKL2 | DRCTNNB1A|HCC|HLD5|HYCC1 | |
| Cytomap | 18q11.2 | 7p15.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA endonuclease RBBP8CTBP-interacting proteinRBBP-8retinoblastoma binding protein 8sporulation in the absence of SPO11 protein 2 homolog | hyccindown regulated by Ctnnb1, adown-regulated by CTNNB1 protein A | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q99708 | Q9BYI3 | |
| Ensembl transtripts involved in fusion gene | ENST00000327155, ENST00000399722, ENST00000399725, ENST00000360790, ENST00000581687, | ENST00000432176, ENST00000409923, ENST00000498833, ENST00000409763, | |
| Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 3 X 3 X 2=18 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RBBP8 [Title/Abstract] AND FAM126A [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 | RBBP8 | GO:0000724 | double-strand break repair via homologous recombination | 20829486 |
| Tgene | FAM126A | GO:0046854 | phosphatidylinositol phosphorylation | 26571211 |
| Tgene | FAM126A | GO:0072659 | protein localization to plasma membrane | 26571211 |
| 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 | LGG | TCGA-HT-7477-01B | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| * 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-5UTR | ENST00000327155 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000327155 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-intron | ENST00000327155 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000327155 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000399722 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000399722 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-intron | ENST00000399722 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000399722 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000399725 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000399725 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-intron | ENST00000399725 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000399725 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000360790 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000360790 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-intron | ENST00000360790 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| 5CDS-5UTR | ENST00000360790 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| intron-5UTR | ENST00000581687 | ENST00000432176 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| intron-5UTR | ENST00000581687 | ENST00000409923 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| intron-intron | ENST00000581687 | ENST00000498833 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
| intron-5UTR | ENST00000581687 | ENST00000409763 | RBBP8 | chr18 | 20564953 | + | FAM126A | chr7 | 23030758 | - |
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FusionProtFeatures for RBBP8_FAM126A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBBP8 | FAM126A |