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Fusion gene ID: 17531 |
FusionGeneSummary for INPPL1_NPM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: INPPL1_NPM1 | Fusion gene ID: 17531 | Hgene | Tgene | Gene symbol | INPPL1 | NPM1 | Gene ID | 3636 | 4869 |
| Gene name | inositol polyphosphate phosphatase like 1 | nucleophosmin 1 | |
| Synonyms | OPSMD|SHIP2 | B23|NPM | |
| Cytomap | 11q13.4 | 5q35.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 251C proteinINPPL-1SH2 domain-containing inositol-5'-phosphatase 2SHIP-2protein 51C | nucleophosminnucleolar protein NO38nucleophosmin (nucleolar phosphoprotein B23, numatrin)nucleophosmin/nucleoplasmin family, member 1testicular tissue protein Li 128 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | O15357 | P06748 | |
| Ensembl transtripts involved in fusion gene | ENST00000298229, ENST00000541756, ENST00000538751, | ENST00000517671, ENST00000296930, ENST00000351986, ENST00000393820, | |
| Fusion gene scores | * DoF score | 3 X 5 X 1=15 | 4 X 4 X 2=32 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/15*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: INPPL1 [Title/Abstract] AND NPM1 [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 |
| Tgene | NPM1 | GO:0006281 | DNA repair | 19188445 |
| Tgene | NPM1 | GO:0006334 | nucleosome assembly | 11602260 |
| Tgene | NPM1 | GO:0006913 | nucleocytoplasmic transport | 16041368 |
| Tgene | NPM1 | GO:0008104 | protein localization | 18420587 |
| Tgene | NPM1 | GO:0008284 | positive regulation of cell proliferation | 22528486 |
| Tgene | NPM1 | GO:0032071 | regulation of endodeoxyribonuclease activity | 19188445 |
| Tgene | NPM1 | GO:0034644 | cellular response to UV | 19160485 |
| Tgene | NPM1 | GO:0043066 | negative regulation of apoptotic process | 12882984 |
| Tgene | NPM1 | GO:0044387 | negative regulation of protein kinase activity by regulation of protein phosphorylation | 12882984 |
| Tgene | NPM1 | GO:0045727 | positive regulation of translation | 12882984 |
| Tgene | NPM1 | GO:0045893 | positive regulation of transcription, DNA-templated | 22528486 |
| Tgene | NPM1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19160485 |
| Tgene | NPM1 | GO:0051259 | protein complex oligomerization | 18809582 |
| Tgene | NPM1 | GO:0060699 | regulation of endoribonuclease activity | 19188445 |
| Tgene | NPM1 | GO:0060735 | regulation of eIF2 alpha phosphorylation by dsRNA | 12882984 |
| Tgene | NPM1 | GO:1902751 | positive regulation of cell cycle G2/M phase transition | 22528486 |
| 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 | BC071891 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| * 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 | ENST00000298229 | ENST00000517671 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-5UTR | ENST00000298229 | ENST00000296930 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-5UTR | ENST00000298229 | ENST00000351986 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-5UTR | ENST00000298229 | ENST00000393820 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-intron | ENST00000541756 | ENST00000517671 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-5UTR | ENST00000541756 | ENST00000296930 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-5UTR | ENST00000541756 | ENST00000351986 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-5UTR | ENST00000541756 | ENST00000393820 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-intron | ENST00000538751 | ENST00000517671 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-5UTR | ENST00000538751 | ENST00000296930 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-5UTR | ENST00000538751 | ENST00000351986 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
| 5CDS-5UTR | ENST00000538751 | ENST00000393820 | INPPL1 | chr11 | 71948741 | - | NPM1 | chr5 | 170814870 | + |
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FusionProtFeatures for INPPL1_NPM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| INPPL1 | NPM1 |
| Phosphatidylinositol (PtdIns) phosphatase thatspecifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2,thereby negatively regulating the PI3K (phosphoinositide 3-kinase)pathways. Plays a central role in regulation of PI3K-dependentinsulin signaling, although the precise molecular mechanisms andsignaling pathways remain unclear. While overexpression reducesboth insulin-stimulated MAP kinase and Akt activation, its absencedoes not affect insulin signaling or GLUT4 trafficking. Confersresistance to dietary obesity. May act by regulating AKT2, but notAKT1, phosphorylation at the plasma membrane. Part of a signalingpathway that regulates actin cytoskeleton remodeling. Required forthe maintenance and dynamic remodeling of actin structures as wellas in endocytosis, having a major impact on ligand-induced EGFRinternalization and degradation. Participates in regulation ofcortical and submembraneous actin by hydrolyzing PtdIns(3,4,5)P3thereby regulating membrane ruffling (PubMed:21624956). Regulatescell adhesion and cell spreading. Required for HGF-mediatedlamellipodium formation, cell scattering and spreading. Acts as anegative regulator of EPHA2 receptor endocytosis by inhibiting viaPI3K-dependent Rac1 activation. Acts as a regulator ofneuritogenesis by regulating PtdIns(3,4,5)P3 level and is requiredto form an initial protrusive pattern, and later, maintain properneurite outgrowth. Acts as a negative regulator of the FC-gamma-RIIA receptor (FCGR2A). Mediates signaling from the FC-gamma-RIIBreceptor (FCGR2B), playing a central role in terminating signaltransduction from activating immune/hematopoietic cell receptorsystems. Involved in EGF signaling pathway. Upon stimulation byEGF, it is recruited by EGFR and dephosphorylates PtdIns(3,4,5)P3.Plays a negative role in regulating the PI3K-PKB pathway, possiblyby inhibiting PKB activity. Down-regulates Fc-gamma-R-mediatedphagocytosis in macrophages independently of INPP5D/SHIP1. Inmacrophages, down-regulates NF-kappa-B-dependent genetranscription by regulating macrophage colony-stimulating factor(M-CSF)-induced signaling. May also hydrolyze PtdIns(1,3,4,5)P4,and could thus affect the levels of the higher inositolpolyphosphates like InsP6. Involved in endochondral ossification.{ECO:0000269|PubMed:11349134, ECO:0000269|PubMed:11739414,ECO:0000269|PubMed:12235291, ECO:0000269|PubMed:12676785,ECO:0000269|PubMed:12690104, ECO:0000269|PubMed:15668240,ECO:0000269|PubMed:17135240, ECO:0000269|PubMed:21624956,ECO:0000269|PubMed:23273569, ECO:0000269|PubMed:9660833}. |
| 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 INPPL1_NPM1 |
| 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 INPPL1_NPM1 |
| 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 INPPL1_NPM1 |
| 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 |
| Tgene | NPM1 | P06748 | DB11638 | Artenimol | Nucleophosmin | small molecule | approved|investigational |
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RelatedDiseases for INPPL1_NPM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | INPPL1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human |
| Hgene | INPPL1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | INPPL1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | INPPL1 | C0432219 | Opsismodysplasia | 1 | ORPHANET;UNIPROT |
| Hgene | INPPL1 | C0524620 | Metabolic Syndrome X | 1 | CTD_human |
| Tgene | NPM1 | C0023467 | Leukemia, Myelocytic, Acute | 3 | CTD_human |
| Tgene | NPM1 | C0023487 | Acute Promyelocytic Leukemia | 2 | CTD_human;ORPHANET |
| Tgene | NPM1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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