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Fusion gene ID: 5536 |
FusionGeneSummary for CARD8_RPA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CARD8_RPA1 | Fusion gene ID: 5536 | Hgene | Tgene | Gene symbol | CARD8 | RPA1 | Gene ID | 22900 | 25885 |
| Gene name | caspase recruitment domain family member 8 | RNA polymerase I subunit A | |
| Synonyms | CARDINAL|DACAR|DAKAR|NDPP|NDPP1|TUCAN | A190|AFDCIN|RPA1|RPA194|RPO1-4|RPO14 | |
| Cytomap | 19q13.33 | 2p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | caspase recruitment domain-containing protein 8CARD inhibitor of NF-kappaB-activating ligandsapoptotic protein NDPP1tumor up-regulated CARD-containing antagonist of CASP9tumor up-regulated CARD-containing antagonist of caspase nine | DNA-directed RNA polymerase I subunit RPA1DNA-directed RNA polymerase I largest subunitDNA-directed RNA polymerase I subunit ADNA-directed RNA polymerase I subunit A1RNA polymerase I 194 kDa subunitpolymerase (RNA) I polypeptide A, 194kDapolymerase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y2G2 | P27694 | |
| Ensembl transtripts involved in fusion gene | ENST00000520753, ENST00000521613, ENST00000519940, ENST00000519332, ENST00000520007, ENST00000600800, ENST00000357778, ENST00000391898, ENST00000359009, ENST00000447740, ENST00000520153, ENST00000520015, ENST00000522431, | ENST00000254719, ENST00000573924, | |
| Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 8 X 7 X 3=168 |
| # samples | 7 | 8 | |
| ** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CARD8 [Title/Abstract] AND RPA1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | CARD8 | GO:0031665 | negative regulation of lipopolysaccharide-mediated signaling pathway | 11821383 |
| Hgene | CARD8 | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 11551959 |
| Hgene | CARD8 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 11821383|15030775 |
| Hgene | CARD8 | GO:0050713 | negative regulation of interleukin-1 beta secretion | 11821383 |
| Hgene | CARD8 | GO:0050718 | positive regulation of interleukin-1 beta secretion | 15030775 |
| Hgene | CARD8 | GO:0097340 | inhibition of cysteine-type endopeptidase activity | 11821383 |
| 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 | DA884322 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| * 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 | ENST00000520753 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000520753 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| Frame-shift | ENST00000521613 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000521613 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| Frame-shift | ENST00000519940 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000519940 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| Frame-shift | ENST00000519332 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000519332 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| Frame-shift | ENST00000520007 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000520007 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| intron-3CDS | ENST00000600800 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| intron-intron | ENST00000600800 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5UTR-3CDS | ENST00000357778 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5UTR-intron | ENST00000357778 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| In-frame | ENST00000391898 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000391898 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5UTR-3CDS | ENST00000359009 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5UTR-intron | ENST00000359009 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| In-frame | ENST00000447740 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000447740 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| In-frame | ENST00000520153 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000520153 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| In-frame | ENST00000520015 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000520015 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| In-frame | ENST00000522431 | ENST00000254719 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
| 5CDS-intron | ENST00000522431 | ENST00000573924 | CARD8 | chr19 | 48744218 | - | RPA1 | chr17 | 1746096 | + |
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FusionProtFeatures for CARD8_RPA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CARD8 | RPA1 |