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Fusion gene ID: 3327 |
FusionGeneSummary for ATP2A2_C12orf49 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP2A2_C12orf49 | Fusion gene ID: 3327 | Hgene | Tgene | Gene symbol | ATP2A2 | C12orf49 | Gene ID | 488 | 79794 |
| Gene name | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | chromosome 12 open reading frame 49 | |
| Synonyms | ATP2B|DAR|DD|SERCA2 | - | |
| Cytomap | 12q24.11 | 12q24.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sarcoplasmic/endoplasmic reticulum calcium ATPase 2ATPase Ca++ transporting cardiac muscle slow twitch 2ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2SR Ca(2+)-ATPase 2calcium pump 2calcium-transporting ATPase sarcoplasmic reticulum type, slow | UPF0454 protein C12orf49 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P16615 | Q9H741 | |
| Ensembl transtripts involved in fusion gene | ENST00000308664, ENST00000395494, ENST00000539276, ENST00000550248, ENST00000552636, | ENST00000261318, ENST00000548356, ENST00000536380, | |
| Fusion gene scores | * DoF score | 12 X 16 X 8=1536 | 1 X 1 X 1=1 |
| # samples | 18 | 1 | |
| ** MAII score | log2(18/1536*10)=-3.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ATP2A2 [Title/Abstract] AND C12orf49 [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 | ATP2A2 | GO:0032469 | endoplasmic reticulum calcium ion homeostasis | 16402920 |
| Hgene | ATP2A2 | GO:0032470 | positive regulation of endoplasmic reticulum calcium ion concentration | 16402920 |
| Hgene | ATP2A2 | GO:0070588 | calcium ion transmembrane transport | 16402920 |
| Hgene | ATP2A2 | GO:1903515 | calcium ion transport from cytosol to endoplasmic reticulum | 16402920 |
| 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 | LUAD | TCGA-44-6779-01A | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| * 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 | ENST00000308664 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000308664 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000308664 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| Frame-shift | ENST00000395494 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000395494 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000395494 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| Frame-shift | ENST00000539276 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000539276 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 5CDS-intron | ENST00000539276 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 3UTR-3CDS | ENST00000550248 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 3UTR-intron | ENST00000550248 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| 3UTR-intron | ENST00000550248 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| intron-3CDS | ENST00000552636 | ENST00000261318 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| intron-intron | ENST00000552636 | ENST00000548356 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
| intron-intron | ENST00000552636 | ENST00000536380 | ATP2A2 | chr12 | 110734542 | + | C12orf49 | chr12 | 117161028 | - |
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FusionProtFeatures for ATP2A2_C12orf49 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP2A2 | C12orf49 |