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Fusion gene ID: 21105 |
FusionGeneSummary for MARVELD2_PIK3R1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MARVELD2_PIK3R1 | Fusion gene ID: 21105 | Hgene | Tgene | Gene symbol | MARVELD2 | PIK3R1 | Gene ID | 153562 | 5295 |
| Gene name | MARVEL domain containing 2 | phosphoinositide-3-kinase regulatory subunit 1 | |
| Synonyms | DFNB49|MARVD2|MRVLDC2|Tric | AGM7|GRB1|IMD36|p85|p85-ALPHA | |
| Cytomap | 5q13.2 | 5q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | MARVEL domain-containing protein 2MARVEL (membrane-associating) domain containing 2tricellulin | phosphatidylinositol 3-kinase regulatory subunit alphaPI3-kinase subunit p85-alphaPI3K regulatory subunit alphaphosphatidylinositol 3-kinase 85 kDa regulatory subunit alphaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)ph | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q8N4S9 | P27986 | |
| Ensembl transtripts involved in fusion gene | ENST00000325631, ENST00000413223, | ENST00000521381, ENST00000521657, ENST00000517643, ENST00000274335, ENST00000396611, ENST00000320694, ENST00000336483, ENST00000523872, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 6 X 6 X 3=108 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MARVELD2 [Title/Abstract] AND PIK3R1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their 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 |
| Tgene | PIK3R1 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7782332 |
| Tgene | PIK3R1 | GO:0034976 | response to endoplasmic reticulum stress | 20348923 |
| Tgene | PIK3R1 | GO:0042307 | positive regulation of protein import into nucleus | 20348923 |
| Tgene | PIK3R1 | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7782332 |
| Tgene | PIK3R1 | GO:0050821 | protein stabilization | 20348923 |
| Tgene | PIK3R1 | GO:0060396 | growth hormone receptor signaling pathway | 7782332 |
| 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 | UCEC | TCGA-AP-A5FX-01A | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| * 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 | ENST00000325631 | ENST00000521381 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| In-frame | ENST00000325631 | ENST00000521657 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000517643 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000274335 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000396611 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000320694 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000336483 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000325631 | ENST00000523872 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| In-frame | ENST00000413223 | ENST00000521381 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| In-frame | ENST00000413223 | ENST00000521657 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000517643 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000274335 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000396611 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000320694 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000336483 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
| 5CDS-intron | ENST00000413223 | ENST00000523872 | MARVELD2 | chr5 | 68720463 | + | PIK3R1 | chr5 | 67589537 | + |
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FusionProtFeatures for MARVELD2_PIK3R1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MARVELD2 | PIK3R1 |