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Fusion gene ID: 27276 |
FusionGeneSummary for PIP5K1A_SLC20A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PIP5K1A_SLC20A2 | Fusion gene ID: 27276 | Hgene | Tgene | Gene symbol | PIP5K1A | SLC20A2 | Gene ID | 8394 | 6575 |
| Gene name | phosphatidylinositol-4-phosphate 5-kinase type 1 alpha | solute carrier family 20 member 2 | |
| Synonyms | - | GLVR-2|GLVR2|IBGC1|IBGC3|MLVAR|PIT-2|PIT2|RAM1|Ram-1 | |
| Cytomap | 1q21.3 | 8p11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphatidylinositol 4-phosphate 5-kinase type-1 alpha68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alphaPIP5K1-alphaPIP5KIalphaphosphatidylinositol 4-phosphate 5-kinase type I alphaptdIns(4)P-5-kinase 1 alpha | sodium-dependent phosphate transporter 2gibbon ape leukemia virus receptor 2murine leukemia virus, amphotropic, receptor formurine leukemia virus, amphotropic; receptorsolute carrier family 20 (phosphate transporter), member 2 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q99755 | Q08357 | |
| Ensembl transtripts involved in fusion gene | ENST00000409426, ENST00000441902, ENST00000368890, ENST00000368888, ENST00000464105, ENST00000414290, | ENST00000342228, ENST00000520262, ENST00000520179, ENST00000523340, | |
| Fusion gene scores | * DoF score | 6 X 3 X 4=72 | 9 X 9 X 4=324 |
| # samples | 5 | 12 | |
| ** MAII score | log2(5/72*10)=-0.526068811667588 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/324*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PIP5K1A [Title/Abstract] AND SLC20A2 [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 | PIP5K1A | GO:0008654 | phospholipid biosynthetic process | 15157668 |
| 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 | LUSC | TCGA-66-2754-01A | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| * 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-5UTR | ENST00000409426 | ENST00000342228 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000409426 | ENST00000520262 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000409426 | ENST00000520179 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-intron | ENST00000409426 | ENST00000523340 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000441902 | ENST00000342228 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000441902 | ENST00000520262 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000441902 | ENST00000520179 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-intron | ENST00000441902 | ENST00000523340 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000368890 | ENST00000342228 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000368890 | ENST00000520262 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000368890 | ENST00000520179 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-intron | ENST00000368890 | ENST00000523340 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000368888 | ENST00000342228 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000368888 | ENST00000520262 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-5UTR | ENST00000368888 | ENST00000520179 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| 5CDS-intron | ENST00000368888 | ENST00000523340 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| intron-5UTR | ENST00000464105 | ENST00000342228 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| intron-5UTR | ENST00000464105 | ENST00000520262 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| intron-5UTR | ENST00000464105 | ENST00000520179 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| intron-intron | ENST00000464105 | ENST00000523340 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| intron-5UTR | ENST00000414290 | ENST00000342228 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| intron-5UTR | ENST00000414290 | ENST00000520262 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| intron-5UTR | ENST00000414290 | ENST00000520179 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
| intron-intron | ENST00000414290 | ENST00000523340 | PIP5K1A | chr1 | 151171557 | + | SLC20A2 | chr8 | 42330172 | - |
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FusionProtFeatures for PIP5K1A_SLC20A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIP5K1A | SLC20A2 |
| Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate(PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety ofcellular processes and is the substrate to formphosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3),another second messenger. The majority of PtdIns(4,5)P2 is thoughtto occur via type I phosphatidylinositol 4-phosphate 5-kinasesgiven the abundance of PtdIns4P. Participates in a variety ofcellular processes such as actin cytoskeleton organization, celladhesion, migration and phagocytosis. Required for membraneruffling formation, actin organization and focal adhesionformation during directional cell migration by controllingintegrin-induced translocation of RAC1 to the plasma membrane.Together with PIP5K1C is required for phagocytosis, but theyregulate different types of actin remodeling at sequential steps.Promotes particle ingestion by activating WAS that induces Arp2/3dependent actin polymerization at the nascent phagocytic cup.Together with PIP5K1B is required after stimulation of G-proteincoupled receptors for stable platelet adhesion. Plays a roleduring calcium-induced keratinocyte differentiation. Recruited tothe plasma membrane by the E-cadherin/beta-catenin complex whereit provides the substrate PtdIns(4,5)P2 for the production ofPtdIns(3,4,5)P3, diacylglycerol and inositol 1,4,5-trisphosphatethat mobilize internal calcium and drive keratinocytedifferentiation. Together with PIP5K1C have a role duringembryogenesis. Functions also in the nucleus where acts as anactivator of TUT1 adenylyltransferase activity in nuclearspeckles, thereby regulating mRNA polyadenylation of a select setof mRNAs. {ECO:0000269|PubMed:18288197,ECO:0000269|PubMed:19158393, ECO:0000269|PubMed:20660631}. | Sodium-phosphate symporter which seems to play afundamental housekeeping role in phosphate transport by absorbingphosphate from interstitial fluid for normal cellular functionssuch as cellular metabolism, signal transduction, and nucleic acidand lipid synthesis. In vitro, sodium-dependent phosphate uptakeis not siginificantly affected by acidic and alkaline conditions,however sodium-independent phosphate uptake occurs at acidicconditions. May play a role in extracellular matrix, cartilage andvascular calcification. Functions as a retroviral receptor andconfers human cells susceptibility to infection to amphotropicmurine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1MLV) and some feline leukemia virus subgroup B (FeLV-B) variants.{ECO:0000269|PubMed:11435563, ECO:0000269|PubMed:12205090,ECO:0000269|PubMed:15955065, ECO:0000269|PubMed:16790504,ECO:0000269|PubMed:8302848}. |
| 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 PIP5K1A_SLC20A2 |
| 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 PIP5K1A_SLC20A2 |
| 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 |
| PIP5K1A | PIP5KL1, APP, CSNK1A1, SIRT1, HECW2, ITGB1BP2, MOV10, NXF1, KCTD17, RABGGTB, SKAP1, GFOD1, FLNC, PIP5K1C, DCAF5, NRP1, RAD21, CENPB, NRXN3, PELP1, HTATSF1, STAG2, GPC3, TRIM41, TGFBR3, MED4, MYH9, RPL10, RHOU, PIP4K2A, PRKCA, IMPDH1, CCDC97, PFDN2, GPR156, CAMK2D, ARIH1, ARHGAP22, KLHDC3, ZSCAN31, ZC3H18, AHCYL2, KBTBD7, TRIM25 | SLC20A2 | MOV10, NXF1, PTGFR, TMEM17, TMEM216, ARMC6, SLC20A1, SLC22A6, HAVCR2, SYP, TOR1AIP2, AIFM1, GGT5, TRIM25 |
| - 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 PIP5K1A_SLC20A2 |
| 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 |
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RelatedDiseases for PIP5K1A_SLC20A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SLC20A2 | C0393590 | Fahr's syndrome (disorder) | 6 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SLC20A2 | C0004782 | Basal Ganglia Diseases | 1 | CTD_human |
| Tgene | SLC20A2 | C0006663 | Calcinosis | 1 | CTD_human |
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