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Fusion gene ID: 27286 |
FusionGeneSummary for PIP5K1C_PPM1H |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PIP5K1C_PPM1H | Fusion gene ID: 27286 | Hgene | Tgene | Gene symbol | PIP5K1C | PPM1H | Gene ID | 23396 | 57460 |
| Gene name | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | protein phosphatase, Mg2+/Mn2+ dependent 1H | |
| Synonyms | LCCS3|PIP5K-GAMMA|PIP5K1-gamma|PIP5Kgamma | ARHCL1|NERPP-2C|URCC2 | |
| Cytomap | 19p13.3 | 12q14.1-q14.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphatidylinositol 4-phosphate 5-kinase type-1 gammadiphosphoinositide kinasephosphatidylinositol-4-phosphate 5-kinase, type I, gammaptdIns(4)P-5-kinase 1 gammatype I PIP kinase | protein phosphatase 1Hneurite extension-related protein phosphatase related to PP2Cprotein phosphatase 1H (PP2C domain containing)ras homolog gene family, member C like 1 | |
| Modification date | 20180520 | 20180519 | |
| UniProtAcc | O60331 | Q9ULR3 | |
| Ensembl transtripts involved in fusion gene | ENST00000335312, ENST00000539785, ENST00000589578, ENST00000537021, ENST00000587482, | ENST00000228705, ENST00000551214, | |
| Fusion gene scores | * DoF score | 6 X 4 X 5=120 | 7 X 7 X 5=245 |
| # samples | 6 | 8 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/245*10)=-1.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PIP5K1C [Title/Abstract] AND PPM1H [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 |
| 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 | SARC | TCGA-DX-A1KZ-01A | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| * 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 |
| Frame-shift | ENST00000335312 | ENST00000228705 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| 5CDS-intron | ENST00000335312 | ENST00000551214 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| Frame-shift | ENST00000539785 | ENST00000228705 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| 5CDS-intron | ENST00000539785 | ENST00000551214 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| Frame-shift | ENST00000589578 | ENST00000228705 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| 5CDS-intron | ENST00000589578 | ENST00000551214 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| Frame-shift | ENST00000537021 | ENST00000228705 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| 5CDS-intron | ENST00000537021 | ENST00000551214 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| 5UTR-3CDS | ENST00000587482 | ENST00000228705 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
| 5UTR-intron | ENST00000587482 | ENST00000551214 | PIP5K1C | chr19 | 3700295 | - | PPM1H | chr12 | 63226059 | - |
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FusionProtFeatures for PIP5K1C_PPM1H |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIP5K1C | PPM1H |
| 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 vesicle mediated transport, celladhesion, cell polarization and cell migration. Together withPIP5K1A is required for phagocytosis, but they regulate differenttypes of actin remodeling at sequential steps. Promotes particleattachment by generating the pool of PtdIns(4,5)P2 that inducescontrolled actin depolymerization to facilitate Fc-gamma-Rclustering. Mediates RAC1-dependent reorganization of actinfilaments. Required for synaptic vesicle transport. Controls theplasma membrane pool of PtdIns(4,5)P2 implicated in synapticvesicle endocytosis and exocytosis. Plays a role in endocytosismediated by clathrin and AP-2 (adaptor protein complex 2).Required for clathrin-coated pits assembly at the synapse.Participates in cell junction assembly. Modulates adherensjunctions formation by facilitating CDH1 trafficking. Required forfocal adhesion dynamics. Modulates the targeting of talins (TLN1and TLN2) to the plasma membrane and their efficient assembly intofocal adhesions. Regulates the interaction between talins (TLN1and TLN2) and beta-integrins. Required for uropodium formation andretraction of the cell rear during directed migration. Has a rolein growth factor- stimulated directional cell migration andadhesion. Required for talin assembly into nascent adhesionsforming at the leading edge toward the direction of the growthfactor. Negative regulator of T-cell activation and adhesion.Negatively regulates integrin alpha-L/beta-2 (LFA-1) polarizationand adhesion induced by T-cell receptor. Together with PIP5K1A hasa role during embryogenesis and together with PIP5K1B may have arole immediately after birth. {ECO:0000269|PubMed:12422219,ECO:0000269|PubMed:12847086, ECO:0000269|PubMed:17261850,ECO:0000269|PubMed:17635937}. | Dephosphorylates CDKN1B at 'Thr-187', thus removing asignal for proteasomal degradation. {ECO:0000269|PubMed:22586611}. |
| 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 PIP5K1C_PPM1H |
| 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 PIP5K1C_PPM1H |
| 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 |
| PIP5K1C | PIP5KL1, ARF6, TLN2, SNX5, TLN1, CDH1, AP2A2, AP2B1, MOV10, LAPTM4B, RABGGTB, PIP5K1A, ITGB1, NEDD4, COQ2, SOAT1, VDAC1, UBC | PPM1H | YWHAB, MOV10, NXF1, BLM, PPM1J, YWHAE, YWHAG, YWHAH, YWHAQ, YWHAZ, SLC12A4, LNPEP, IGF2R, STX16, ARHGAP1, MIOS, CPD, TPD52, TPD52L2, WDR11, FAM91A1, GOLGA4, VAMP2, SLC6A15, LMAN1, VAMP3, TSC1, TMF1, SCAMP1, PGRMC2, ITGB1, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, CGN, DENND1A, SH3PXD2A, SRGAP2, RTKN, MAST3, EIF4E2, SIPA1L1, DENND4C, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, MAPKAP1, HDAC4, NF1, SRSF12, CBY1, LPIN3, SYDE1, AGAP1, CDC25B, CDK16, CDC25C, NADK, GIGYF2, FAM110B, CAMSAP2, USP21, ANKRD34A, FAM53C, KIAA1804, TIAM1, RASAL2, RALGPS2, PHLDB2, SH3RF3, PLEKHA7, FAM110A, KIF1C, NAV1, GAB2, TANC2, MELK, PTPN13, OSBPL6, DENND4A, PTPN14, STARD13, RPTOR, DEPDC1B, HDAC7, LARP1, TBC1D25, PLEKHA5, RAB11FIP2, INPP5E |
| - 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 PIP5K1C_PPM1H |
| 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 PIP5K1C_PPM1H |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PIP5K1C | C1969655 | LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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