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Fusion gene ID: 21459 |
FusionGeneSummary for MED13L_PRIM1 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: MED13L_PRIM1 | Fusion gene ID: 21459 | Hgene | Tgene | Gene symbol | MED13L | PRIM1 | Gene ID | 23389 | 5557 |
| Gene name | mediator complex subunit 13 like | DNA primase subunit 1 | |
| Synonyms | MRFACD|PROSIT240|THRAP2|TRAP240L | p49 | |
| Cytomap | 12q24.21 | 12q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mediator of RNA polymerase II transcription subunit 13-likethyroid hormone receptor-associated protein 2thyroid hormone receptor-associated protein complex 240 kDa component-like | DNA primase small subunitDNA primase 1DNA primase 49 kDa subunitDNA primase subunit 48primase (DNA) subunit 1primase p49 subunitprimase polypeptide 1, 49kDaprimase, DNA, polypeptide 1 (49kDa) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q71F56 | P49642 | |
| Ensembl transtripts involved in fusion gene | ENST00000281928, ENST00000551197, | ENST00000338193, ENST00000552408, | |
| Fusion gene scores | * DoF score | 21 X 13 X 12=3276 | 7 X 6 X 7=294 |
| # samples | 23 | 8 | |
| ** MAII score | log2(23/3276*10)=-3.83222959069663 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/294*10)=-1.877744249949 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MED13L [Title/Abstract] AND PRIM1 [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 |
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-AR-A1AV-01A | MED13L | chr12 | 116675273 | - | PRIM1 | chr12 | 57133147 | - |
| * 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 | ENST00000281928 | ENST00000338193 | MED13L | chr12 | 116675273 | - | PRIM1 | chr12 | 57133147 | - |
| 5CDS-intron | ENST00000281928 | ENST00000552408 | MED13L | chr12 | 116675273 | - | PRIM1 | chr12 | 57133147 | - |
| 5UTR-3CDS | ENST00000551197 | ENST00000338193 | MED13L | chr12 | 116675273 | - | PRIM1 | chr12 | 57133147 | - |
| 5UTR-intron | ENST00000551197 | ENST00000552408 | MED13L | chr12 | 116675273 | - | PRIM1 | chr12 | 57133147 | - |
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FusionProtFeatures for MED13L_PRIM1 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MED13L | PRIM1 |