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Fusion gene ID: 3235 |
FusionGeneSummary for ATM_CARD18 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATM_CARD18 | Fusion gene ID: 3235 | Hgene | Tgene | Gene symbol | ATM | CARD18 | Gene ID | 472 | 59082 |
| Gene name | ATM serine/threonine kinase | caspase recruitment domain family member 18 | |
| Synonyms | AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1 | ICEBERG|UNQ5804|pseudo-ICE | |
| Cytomap | 11q22.3 | 11q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine-protein kinase ATMA-T mutatedAT mutatedTEL1, telomere maintenance 1, homologataxia telangiectasia mutated | caspase recruitment domain-containing protein 18ICEBERG caspase-1 inhibitorcaspase-1 inhibitor Iceberg | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q13315 | P57730 | |
| Ensembl transtripts involved in fusion gene | ENST00000278616, ENST00000452508, ENST00000525178, | ENST00000530950, ENST00000526823, ENST00000532895, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 1 X 1=2 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/2*10)=3.32192809488736 | |
| Context | PubMed: ATM [Title/Abstract] AND CARD18 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor 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 | ATM | GO:0006468 | protein phosphorylation | 15916964 |
| Hgene | ATM | GO:0006974 | cellular response to DNA damage stimulus | 16213212 |
| Hgene | ATM | GO:0006975 | DNA damage induced protein phosphorylation | 9733515 |
| Hgene | ATM | GO:0010212 | response to ionizing radiation | 9733515|11375976 |
| Hgene | ATM | GO:0018105 | peptidyl-serine phosphorylation | 9733515|26323318 |
| Hgene | ATM | GO:0046777 | protein autophosphorylation | 9733515|15790808 |
| Hgene | ATM | GO:0071044 | histone mRNA catabolic process | 16086026 |
| Hgene | ATM | GO:0071480 | cellular response to gamma radiation | 9925639|16213212 |
| Hgene | ATM | GO:0071481 | cellular response to X-ray | 26323318 |
| Hgene | ATM | GO:0071500 | cellular response to nitrosative stress | 23878245 |
| Tgene | CARD18 | GO:0032091 | negative regulation of protein binding | 11536016 |
| Tgene | CARD18 | GO:0050713 | negative regulation of interleukin-1 beta secretion | 11536016|11821383 |
| Tgene | CARD18 | 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 |
| TCGA | RV | PRAD | TCGA-KK-A6E8-01A | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
| * 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 | ENST00000278616 | ENST00000530950 | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
| 5CDS-5UTR | ENST00000278616 | ENST00000526823 | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
| 5CDS-5UTR | ENST00000278616 | ENST00000532895 | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
| In-frame | ENST00000452508 | ENST00000530950 | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
| 5CDS-5UTR | ENST00000452508 | ENST00000526823 | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
| 5CDS-5UTR | ENST00000452508 | ENST00000532895 | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
| 3UTR-3CDS | ENST00000525178 | ENST00000530950 | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
| 3UTR-5UTR | ENST00000525178 | ENST00000526823 | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
| 3UTR-5UTR | ENST00000525178 | ENST00000532895 | ATM | chr11 | 108218092 | + | CARD18 | chr11 | 105009805 | - |
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FusionProtFeatures for ATM_CARD18 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATM | CARD18 |