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Fusion gene ID: 27208 |
FusionGeneSummary for PIK3R1_SH3TC2 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: PIK3R1_SH3TC2 | Fusion gene ID: 27208 | Hgene | Tgene | Gene symbol | PIK3R1 | SH3TC2 | Gene ID | 5295 | 79628 |
| Gene name | phosphoinositide-3-kinase regulatory subunit 1 | SH3 domain and tetratricopeptide repeats 2 | |
| Synonyms | AGM7|GRB1|IMD36|p85|p85-ALPHA | CMT4C|MNMN | |
| Cytomap | 5q13.1 | 5q32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | SH3 domain and tetratricopeptide repeat-containing protein 2SH3 domain and tetratricopeptide repeats-containing protein 2 | |
| Modification date | 20180523 | 20180421 | |
| UniProtAcc | P27986 | Q8TF17 | |
| Ensembl transtripts involved in fusion gene | ENST00000521381, ENST00000521657, ENST00000517643, ENST00000274335, ENST00000396611, ENST00000320694, ENST00000336483, ENST00000523872, | ENST00000538184, ENST00000502274, ENST00000515425, ENST00000512049, ENST00000394358, ENST00000513340, | |
| Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 2 X 3 X 2=12 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PIK3R1 [Title/Abstract] AND SH3TC2 [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 | PIK3R1 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7782332 |
| Hgene | PIK3R1 | GO:0034976 | response to endoplasmic reticulum stress | 20348923 |
| Hgene | PIK3R1 | GO:0042307 | positive regulation of protein import into nucleus | 20348923 |
| Hgene | PIK3R1 | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7782332 |
| Hgene | PIK3R1 | GO:0050821 | protein stabilization | 20348923 |
| Hgene | 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 | LD | GBM | TCGA-19-A6J5-01A | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| * 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 |
| 5CDS-intron | ENST00000521381 | ENST00000538184 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000521381 | ENST00000502274 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000521381 | ENST00000515425 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000521381 | ENST00000512049 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-5UTR | ENST00000521381 | ENST00000394358 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000521381 | ENST00000513340 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000521657 | ENST00000538184 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000521657 | ENST00000502274 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000521657 | ENST00000515425 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000521657 | ENST00000512049 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-5UTR | ENST00000521657 | ENST00000394358 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000521657 | ENST00000513340 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000517643 | ENST00000538184 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000517643 | ENST00000502274 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000517643 | ENST00000515425 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000517643 | ENST00000512049 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-5UTR | ENST00000517643 | ENST00000394358 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000517643 | ENST00000513340 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000274335 | ENST00000538184 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000274335 | ENST00000502274 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000274335 | ENST00000515425 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000274335 | ENST00000512049 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-5UTR | ENST00000274335 | ENST00000394358 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000274335 | ENST00000513340 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000396611 | ENST00000538184 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000396611 | ENST00000502274 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000396611 | ENST00000515425 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000396611 | ENST00000512049 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-5UTR | ENST00000396611 | ENST00000394358 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| 5CDS-intron | ENST00000396611 | ENST00000513340 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000320694 | ENST00000538184 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000320694 | ENST00000502274 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000320694 | ENST00000515425 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000320694 | ENST00000512049 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-5UTR | ENST00000320694 | ENST00000394358 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000320694 | ENST00000513340 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000336483 | ENST00000538184 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000336483 | ENST00000502274 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000336483 | ENST00000515425 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000336483 | ENST00000512049 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-5UTR | ENST00000336483 | ENST00000394358 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000336483 | ENST00000513340 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000523872 | ENST00000538184 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000523872 | ENST00000502274 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000523872 | ENST00000515425 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000523872 | ENST00000512049 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-5UTR | ENST00000523872 | ENST00000394358 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
| intron-intron | ENST00000523872 | ENST00000513340 | PIK3R1 | chr5 | 67522837 | + | SH3TC2 | chr5 | 148431803 | - |
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FusionProtFeatures for PIK3R1_SH3TC2 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIK3R1 | SH3TC2 |