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Fusion gene ID: 30882 |
FusionGeneSummary for RCOR1_KIT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RCOR1_KIT | Fusion gene ID: 30882 | Hgene | Tgene | Gene symbol | RCOR1 | KIT | Gene ID | 23186 | 3815 |
| Gene name | REST corepressor 1 | KIT proto-oncogene receptor tyrosine kinase | |
| Synonyms | COREST|RCOR | C-Kit|CD117|PBT|SCFR | |
| Cytomap | 14q32.31-q32.32 | 4q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | REST corepressor 1 | mast/stem cell growth factor receptor Kitc-Kit protooncogenep145 c-kitpiebald trait proteinproto-oncogene c-Kitproto-oncogene tyrosine-protein kinase Kitsoluble KIT variant 1tyrosine-protein kinase Kitv-kit Hardy-Zuckerman 4 feline sarcoma viral o | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9UKL0 | P10721 | |
| Ensembl transtripts involved in fusion gene | ENST00000262241, ENST00000570597, | ENST00000288135, | |
| Fusion gene scores | * DoF score | 8 X 8 X 10=640 | 2 X 2 X 2=8 |
| # samples | 12 | 2 | |
| ** MAII score | log2(12/640*10)=-2.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: RCOR1 [Title/Abstract] AND KIT [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Kinase involved fusion gene, inframe and retained kinase 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 | RCOR1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10449787 |
| Hgene | RCOR1 | GO:0070933 | histone H4 deacetylation | 17555596 |
| Tgene | KIT | GO:0000187 | activation of MAPK activity | 21640708 |
| Tgene | KIT | GO:0002551 | mast cell chemotaxis | 20100931 |
| Tgene | KIT | GO:0018108 | peptidyl-tyrosine phosphorylation | 21640708 |
| Tgene | KIT | GO:0019221 | cytokine-mediated signaling pathway | 21640708 |
| Tgene | KIT | GO:0031532 | actin cytoskeleton reorganization | 1721869 |
| Tgene | KIT | GO:0032762 | mast cell cytokine production | 20100931 |
| Tgene | KIT | GO:0038093 | Fc receptor signaling pathway | 20100931 |
| Tgene | KIT | GO:0038109 | Kit signaling pathway | 17662946 |
| Tgene | KIT | GO:0046777 | protein autophosphorylation | 21640708 |
| Tgene | KIT | GO:0060326 | cell chemotaxis | 1721869 |
| Tgene | KIT | GO:1905065 | positive regulation of vascular smooth muscle cell differentiation | 19088079 |
| 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-EJ-7327-01A | RCOR1 | chr14 | 103148315 | + | KIT | chr4 | 55561678 | + |
| * 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 | ENST00000262241 | ENST00000288135 | RCOR1 | chr14 | 103148315 | + | KIT | chr4 | 55561678 | + |
| In-frame | ENST00000570597 | ENST00000288135 | RCOR1 | chr14 | 103148315 | + | KIT | chr4 | 55561678 | + |
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FusionProtFeatures for RCOR1_KIT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RCOR1 | KIT |