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Fusion gene ID: 17518 |
FusionGeneSummary for INPP5D_C7orf73 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: INPP5D_C7orf73 | Fusion gene ID: 17518 | Hgene | Tgene | Gene symbol | INPP5D | C7orf73 | Gene ID | 3635 |
| Gene name | inositol polyphosphate-5-phosphatase D | ||
| Synonyms | SHIP|SHIP-1|SHIP1|SIP-145|hp51CN|p150Ship | ||
| Cytomap | 2q37.1 | ||
| Type of gene | protein-coding | ||
| Description | phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1SH2 domain-containing inositol 5'-phosphatase 1inositol polyphosphate-5-phosphatase, 145kDinositol polyphosphate-5-phosphatase, 145kDasignaling inositol polyphosphate 5 phosphatase SIP-145signal | ||
| Modification date | 20180519 | ||
| UniProtAcc | Q92835 | ||
| Ensembl transtripts involved in fusion gene | ENST00000538935, ENST00000359570, ENST00000450745, ENST00000455936, ENST00000474278, | ENST00000507606, ENST00000422968, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 5 X 5 X 3=75 |
| # samples | 2 | 5 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: INPP5D [Title/Abstract] AND C7orf73 [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 |
| ChiTaRS3.1 | AA019799 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| * 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 |
| intron-intron | ENST00000538935 | ENST00000507606 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| intron-intron | ENST00000538935 | ENST00000422968 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| intron-intron | ENST00000359570 | ENST00000507606 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| intron-intron | ENST00000359570 | ENST00000422968 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| intron-intron | ENST00000450745 | ENST00000507606 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| intron-intron | ENST00000450745 | ENST00000422968 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| intron-intron | ENST00000455936 | ENST00000507606 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| intron-intron | ENST00000455936 | ENST00000422968 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| intron-intron | ENST00000474278 | ENST00000507606 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
| intron-intron | ENST00000474278 | ENST00000422968 | INPP5D | chr2 | 233977114 | + | C7orf73 | chr7 | 135360084 | - |
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FusionProtFeatures for INPP5D_C7orf73 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| INPP5D | C7orf73 |
| 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. Acts as a negative regulator of B-cell antigen receptorsignaling. Mediates signaling from the FC-gamma-RIIB receptor(FCGR2B), playing a central role in terminating signaltransduction from activating immune/hematopoietic cell receptorsystems. Acts as a negative regulator of myeloid cellproliferation/survival and chemotaxis, mast cell degranulation,immune cells homeostasis, integrin alpha-IIb/beta-3 signaling inplatelets and JNK signaling in B-cells. Regulates proliferation ofosteoclast precursors, macrophage programming, phagocytosis andactivation and is required for endotoxin tolerance. Involved inthe control of cell-cell junctions, CD32a signaling in neutrophilsand modulation of EGF-induced phospholipase C activity. Keyregulator of neutrophil migration, by governing the formation ofthe leading edge and polarization required for chemotaxis.Modulates FCGR3/CD16-mediated cytotoxicity in NK cells. Mediatesthe activin/TGF-beta-induced apoptosis through its Smad-dependentexpression. May also hydrolyze PtdIns(1,3,4,5)P4, and could thusaffect the levels of the higher inositol polyphosphates likeInsP6. {ECO:0000269|PubMed:12421919, ECO:0000269|PubMed:16682172}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 INPP5D_C7orf73 |
| 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 INPP5D_C7orf73 |
| 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 INPP5D_C7orf73 |
| 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 INPP5D_C7orf73 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | INPP5D | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | INPP5D | C0035126 | Reperfusion Injury | 1 | CTD_human |
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