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Fusion gene ID: 22205 |
FusionGeneSummary for MMD_PRKCA |
Fusion gene summary |
| Fusion gene information | Fusion gene name: MMD_PRKCA | Fusion gene ID: 22205 | Hgene | Tgene | Gene symbol | MMD | PRKCA | Gene ID | 23531 | 5578 |
| Gene name | monocyte to macrophage differentiation associated | protein kinase C alpha | |
| Synonyms | MMA|MMD1|PAQR11 | AAG6|PKC-alpha|PKCA|PRKACA | |
| Cytomap | 17q22 | 17q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | monocyte to macrophage differentiation factormacrophage maturation-associatedmonocyte to macrophage differentiation proteinprogestin and adipoQ receptor family member 11progestin and adipoQ receptor family member XI | protein kinase C alpha typePKC-Aaging-associated gene 6 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q15546 | P17252 | |
| Ensembl transtripts involved in fusion gene | ENST00000262065, ENST00000577038, | ENST00000413366, ENST00000583361, | |
| Fusion gene scores | * DoF score | 5 X 2 X 3=30 | 16 X 8 X 6=768 |
| # samples | 5 | 15 | |
| ** MAII score | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(15/768*10)=-2.35614381022528 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MMD [Title/Abstract] AND PRKCA [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 | MMD | GO:0032880 | regulation of protein localization | 21968647 |
| Hgene | MMD | GO:0045666 | positive regulation of neuron differentiation | 21968647 |
| Hgene | MMD | GO:0045860 | positive regulation of protein kinase activity | 21968647 |
| Tgene | PRKCA | GO:0006468 | protein phosphorylation | 10770950 |
| Tgene | PRKCA | GO:0035408 | histone H3-T6 phosphorylation | 20228790 |
| Tgene | PRKCA | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 20011604 |
| Tgene | PRKCA | GO:0090330 | regulation of platelet aggregation | 12724315 |
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 | BRCA | TCGA-A8-A08O-01A | MMD | chr17 | 53499031 | - | PRKCA | chr17 | 64728806 | + |
| * 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 | ENST00000262065 | ENST00000413366 | MMD | chr17 | 53499031 | - | PRKCA | chr17 | 64728806 | + |
| 5CDS-intron | ENST00000262065 | ENST00000583361 | MMD | chr17 | 53499031 | - | PRKCA | chr17 | 64728806 | + |
| 5UTR-3CDS | ENST00000577038 | ENST00000413366 | MMD | chr17 | 53499031 | - | PRKCA | chr17 | 64728806 | + |
| 5UTR-intron | ENST00000577038 | ENST00000583361 | MMD | chr17 | 53499031 | - | PRKCA | chr17 | 64728806 | + |
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FusionProtFeatures for MMD_PRKCA |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MMD | PRKCA |