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Fusion gene ID: 26653 |
FusionGeneSummary for PELI2_GPHN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PELI2_GPHN | Fusion gene ID: 26653 | Hgene | Tgene | Gene symbol | PELI2 | GPHN | Gene ID | 57161 | 10243 |
| Gene name | pellino E3 ubiquitin protein ligase family member 2 | gephyrin | |
| Synonyms | - | GEPH|GPH|GPHRYN|HKPX1|MOCODC | |
| Cytomap | 14q22.3 | 14q23.3-q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase pellino homolog 2RING-type E3 ubiquitin transferase pellino homolog 2pellino homolog 2pellino-2protein pellino homolog 2 | gephyrin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9HAT8 | Q9NQX3 | |
| Ensembl transtripts involved in fusion gene | ENST00000267460, | ENST00000315266, ENST00000478722, ENST00000459628, ENST00000543237, ENST00000305960, ENST00000544752, | |
| Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 9 X 13 X 12=1404 |
| # samples | 5 | 20 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/1404*10)=-2.81147103052984 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PELI2 [Title/Abstract] AND GPHN [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 | PELI2 | GO:0001934 | positive regulation of protein phosphorylation | 12804775 |
| Hgene | PELI2 | GO:0043410 | positive regulation of MAPK cascade | 12804775 |
| Tgene | GPHN | GO:0032324 | molybdopterin cofactor biosynthetic process | 26613940 |
| Tgene | GPHN | GO:0097112 | gamma-aminobutyric acid receptor clustering | 26613940 |
| 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 | SKCM | TCGA-W3-AA1R-06A | PELI2 | chr14 | 56645182 | + | GPHN | chr14 | 67490350 | + |
| * 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 | ENST00000267460 | ENST00000315266 | PELI2 | chr14 | 56645182 | + | GPHN | chr14 | 67490350 | + |
| In-frame | ENST00000267460 | ENST00000478722 | PELI2 | chr14 | 56645182 | + | GPHN | chr14 | 67490350 | + |
| In-frame | ENST00000267460 | ENST00000459628 | PELI2 | chr14 | 56645182 | + | GPHN | chr14 | 67490350 | + |
| In-frame | ENST00000267460 | ENST00000543237 | PELI2 | chr14 | 56645182 | + | GPHN | chr14 | 67490350 | + |
| In-frame | ENST00000267460 | ENST00000305960 | PELI2 | chr14 | 56645182 | + | GPHN | chr14 | 67490350 | + |
| 5CDS-3UTR | ENST00000267460 | ENST00000544752 | PELI2 | chr14 | 56645182 | + | GPHN | chr14 | 67490350 | + |
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FusionProtFeatures for PELI2_GPHN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PELI2 | GPHN |