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Fusion gene ID: 27209 |
FusionGeneSummary for PIK3R2_ARIH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PIK3R2_ARIH1 | Fusion gene ID: 27209 | Hgene | Tgene | Gene symbol | PIK3R2 | ARIH1 | Gene ID | 5296 | 25820 |
| Gene name | phosphoinositide-3-kinase regulatory subunit 2 | ariadne RBR E3 ubiquitin protein ligase 1 | |
| Synonyms | MPPH|MPPH1|P85B|p85|p85-BETA | ARI|HARI|HHARI|UBCH7BP | |
| Cytomap | 19p13.11 | 15q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphatidylinositol 3-kinase regulatory subunit betaPI3-kinase subunit p85-betaPI3K regulatory subunit betaphosphatidylinositol 3-kinase 85 kDa regulatory subunit betaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta)phospho | E3 ubiquitin-protein ligase ARIH1ARI-1H7-AP2MOP-6ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1ariadne, Drosophila, homolog ofmonocyte protein 6protein ariadne-1 homologubcH7-binding proteinubcM4-interacting proteinubiquitin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O00459 | Q9Y4X5 | |
| Ensembl transtripts involved in fusion gene | ENST00000222254, ENST00000593731, | ENST00000379887, ENST00000562891, | |
| Fusion gene scores | * DoF score | 5 X 6 X 1=30 | 4 X 7 X 3=84 |
| # samples | 7 | 7 | |
| ** MAII score | log2(7/30*10)=1.22239242133645 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PIK3R2 [Title/Abstract] AND ARIH1 [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 | PIK3R2 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 23604317 |
| Tgene | ARIH1 | GO:0016567 | protein ubiquitination | 14623119|15236971|21532592|23707686|24076655|27565346 |
| 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 |
| ChiTaRS3.1 | BG545738 | PIK3R2 | chr19 | 18279560 | + | ARIH1 | chr15 | 72877991 | + |
| * 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-3UTR | ENST00000222254 | ENST00000379887 | PIK3R2 | chr19 | 18279560 | + | ARIH1 | chr15 | 72877991 | + |
| 5CDS-intron | ENST00000222254 | ENST00000562891 | PIK3R2 | chr19 | 18279560 | + | ARIH1 | chr15 | 72877991 | + |
| 5CDS-3UTR | ENST00000593731 | ENST00000379887 | PIK3R2 | chr19 | 18279560 | + | ARIH1 | chr15 | 72877991 | + |
| 5CDS-intron | ENST00000593731 | ENST00000562891 | PIK3R2 | chr19 | 18279560 | + | ARIH1 | chr15 | 72877991 | + |
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FusionProtFeatures for PIK3R2_ARIH1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIK3R2 | ARIH1 |
| Regulatory subunit of phosphoinositide-3-kinase (PI3K),a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PHdomain-containing proteins to the membrane, including AKT1 andPDPK1, activating signaling cascades involved in cell growth,survival, proliferation, motility and morphology. Binds toactivated (phosphorylated) protein-tyrosine kinases, through itsSH2 domain, and acts as an adapter, mediating the association ofthe p110 catalytic unit to the plasma membrane. Indirectlyregulates autophagy (PubMed:23604317). Promotes nucleartranslocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver andhence plays a role in glucose tolerance improvement (Bysimilarity). {ECO:0000250|UniProtKB:O08908,ECO:0000269|PubMed:23604317}. | E3 ubiquitin-protein ligase, which catalyzesubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:15236971, PubMed:21532592,PubMed:24076655, PubMed:27565346, PubMed:23707686). Acts as anatypical E3 ubiquitin-protein ligase by working together withcullin-RING ubiquitin ligase (CRL) complexes and initiatingubiquitination of CRL substrates: associates with CRL complexesand specifically mediates addition of the first ubiquitin on CRLstargets (PubMed:27565346). The initial ubiquitin is then elongatedby CDC34/UBE2R1 and UBE2R2 (PubMed:27565346). E3 ubiquitin-proteinligase activity is activated upon binding to neddylated cullin-RING ubiquitin ligase complexes (PubMed:24076655,PubMed:27565346). Plays a role in protein translation in responseto DNA damage by mediating ubiquitination of EIF4E2, theconsequences of EIF4E2 ubiquitination are however unclear(PubMed:25624349). According to a report, EIF4E2 ubiquitinationleads to promote EIF4E2 cap-binding and protein translation arrest(PubMed:25624349). According to another report EIF4E2ubiquitination leads to its subsequent degradation(PubMed:14623119). Acts as the ligase involved in ISGylation ofEIF4E2 (PubMed:17289916). {ECO:0000269|PubMed:14623119,ECO:0000269|PubMed:15236971, ECO:0000269|PubMed:17289916,ECO:0000269|PubMed:21532592, ECO:0000269|PubMed:23707686,ECO:0000269|PubMed:24076655, ECO:0000269|PubMed:25624349,ECO:0000269|PubMed:27565346}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PIK3R2_ARIH1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PIK3R2_ARIH1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PIK3R2_ARIH1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | PIK3R2 | O00459 | DB01064 | Isoprenaline | Phosphatidylinositol 3-kinase regulatory subunit beta | small molecule | approved|investigational |
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RelatedDiseases for PIK3R2_ARIH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PIK3R2 | C4012727 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | 3 | UNIPROT |
| Hgene | PIK3R2 | C1863924 | Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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