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Fusion gene ID: 31873 |
FusionGeneSummary for RPL30_PPHLN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPL30_PPHLN1 | Fusion gene ID: 31873 | Hgene | Tgene | Gene symbol | RPL30 | PPHLN1 | Gene ID | 6156 | 51535 |
| Gene name | ribosomal protein L30 | periphilin 1 | |
| Synonyms | L30 | CR|HSPC206|HSPC232 | |
| Cytomap | 8q22.2 | 12q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 60S ribosomal protein L30large ribosomal subunit protein eL30 | periphilin-1CDC7 expression repressorgastric cancer antigen Ga50 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P62888 | Q8NEY8 | |
| Ensembl transtripts involved in fusion gene | ENST00000518164, ENST00000521291, ENST00000396070, ENST00000287038, ENST00000523172, | ENST00000549190, ENST00000395580, ENST00000337898, ENST00000358314, ENST00000395568, ENST00000256678, ENST00000449194, ENST00000552761, ENST00000317560, ENST00000432191, ENST00000550535, | |
| Fusion gene scores | * DoF score | 7 X 7 X 2=98 | 3 X 4 X 3=36 |
| # samples | 8 | 4 | |
| ** MAII score | log2(8/98*10)=-0.292781749227846 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RPL30 [Title/Abstract] AND PPHLN1 [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 | RPL30 | GO:0002181 | cytoplasmic translation | 25957688 |
| Hgene | RPL30 | GO:0031640 | killing of cells of other organism | 15019208 |
| Hgene | RPL30 | GO:0050829 | defense response to Gram-negative bacterium | 15019208 |
| Hgene | RPL30 | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 15019208 |
| 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 | SARC | TCGA-SI-A71Q-01A | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| * 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 |
| 5UTR-3CDS | ENST00000518164 | ENST00000549190 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-3CDS | ENST00000518164 | ENST00000395580 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-3CDS | ENST00000518164 | ENST00000337898 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-3CDS | ENST00000518164 | ENST00000358314 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-3CDS | ENST00000518164 | ENST00000395568 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-5UTR | ENST00000518164 | ENST00000256678 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-5UTR | ENST00000518164 | ENST00000449194 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-5UTR | ENST00000518164 | ENST00000552761 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-5UTR | ENST00000518164 | ENST00000317560 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-5UTR | ENST00000518164 | ENST00000432191 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5UTR-intron | ENST00000518164 | ENST00000550535 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000521291 | ENST00000549190 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000521291 | ENST00000395580 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000521291 | ENST00000337898 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000521291 | ENST00000358314 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000521291 | ENST00000395568 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000521291 | ENST00000256678 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000521291 | ENST00000449194 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000521291 | ENST00000552761 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000521291 | ENST00000317560 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000521291 | ENST00000432191 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-intron | ENST00000521291 | ENST00000550535 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000396070 | ENST00000549190 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000396070 | ENST00000395580 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000396070 | ENST00000337898 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000396070 | ENST00000358314 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000396070 | ENST00000395568 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000396070 | ENST00000256678 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000396070 | ENST00000449194 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000396070 | ENST00000552761 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000396070 | ENST00000317560 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000396070 | ENST00000432191 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-intron | ENST00000396070 | ENST00000550535 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000287038 | ENST00000549190 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000287038 | ENST00000395580 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000287038 | ENST00000337898 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000287038 | ENST00000358314 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| In-frame | ENST00000287038 | ENST00000395568 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000287038 | ENST00000256678 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000287038 | ENST00000449194 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000287038 | ENST00000552761 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000287038 | ENST00000317560 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-5UTR | ENST00000287038 | ENST00000432191 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| 5CDS-intron | ENST00000287038 | ENST00000550535 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-3CDS | ENST00000523172 | ENST00000549190 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-3CDS | ENST00000523172 | ENST00000395580 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-3CDS | ENST00000523172 | ENST00000337898 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-3CDS | ENST00000523172 | ENST00000358314 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-3CDS | ENST00000523172 | ENST00000395568 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-5UTR | ENST00000523172 | ENST00000256678 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-5UTR | ENST00000523172 | ENST00000449194 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-5UTR | ENST00000523172 | ENST00000552761 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-5UTR | ENST00000523172 | ENST00000317560 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-5UTR | ENST00000523172 | ENST00000432191 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
| intron-intron | ENST00000523172 | ENST00000550535 | RPL30 | chr8 | 99057171 | - | PPHLN1 | chr12 | 42768665 | + |
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FusionProtFeatures for RPL30_PPHLN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPL30 | PPHLN1 |