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Fusion gene ID: 5655 |
FusionGeneSummary for CBFA2T2_COMMD7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CBFA2T2_COMMD7 | Fusion gene ID: 5655 | Hgene | Tgene | Gene symbol | CBFA2T2 | COMMD7 | Gene ID | 9139 | 149951 |
| Gene name | CBFA2/RUNX1 translocation partner 2 | COMM domain containing 7 | |
| Synonyms | EHT|MTGR1|ZMYND3|p85 | C20orf92|dJ1085F17.3 | |
| Cytomap | 20q11.21-q11.22 | 20q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein CBFA2T2ETO homolog on chromosome 20ETO homologous on chromosome 20MTG8-like proteinMTG8-related protein 1core-binding factor, runt domain, alpha subunit 2; translocated to, 2myeloid translocation gene-related protein 1myeloid translocation- | COMM domain-containing protein 7 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O43439 | Q86VX2 | |
| Ensembl transtripts involved in fusion gene | ENST00000342704, ENST00000375279, ENST00000344201, ENST00000397798, ENST00000346541, ENST00000397800, ENST00000492345, ENST00000359606, ENST00000491618, ENST00000543126, | ENST00000278980, ENST00000446419, | |
| Fusion gene scores | * DoF score | 11 X 4 X 6=264 | 5 X 2 X 4=40 |
| # samples | 12 | 6 | |
| ** MAII score | log2(12/264*10)=-1.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/40*10)=0.584962500721156 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CBFA2T2 [Title/Abstract] AND COMMD7 [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 | CBFA2T2 | GO:0010976 | positive regulation of neuron projection development | 19026687 |
| Hgene | CBFA2T2 | GO:0045892 | negative regulation of transcription, DNA-templated | 23251453 |
| Tgene | COMMD7 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 15799966 |
| Tgene | COMMD7 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 15799966 |
| Tgene | COMMD7 | GO:0045892 | negative regulation of transcription, DNA-templated | 15799966 |
| 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 | OV | TCGA-29-1768-01A | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| * 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 | ENST00000342704 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| In-frame | ENST00000342704 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| 5UTR-3CDS | ENST00000375279 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| 5UTR-3CDS | ENST00000375279 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000344201 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000344201 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000397798 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000397798 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000346541 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000346541 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000397800 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000397800 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000492345 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000492345 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000359606 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000359606 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000491618 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000491618 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000543126 | ENST00000278980 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
| intron-3CDS | ENST00000543126 | ENST00000446419 | CBFA2T2 | chr20 | 32078107 | + | COMMD7 | chr20 | 31294562 | - |
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FusionProtFeatures for CBFA2T2_COMMD7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CBFA2T2 | COMMD7 |