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Fusion gene ID: 36681 |
FusionGeneSummary for STXBP4_PPM1D |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: STXBP4_PPM1D | Fusion gene ID: 36681 | Hgene | Tgene | Gene symbol | STXBP4 | PPM1D | Gene ID | 252983 | 8493 |
| Gene name | syntaxin binding protein 4 | protein phosphatase, Mg2+/Mn2+ dependent 1D | |
| Synonyms | Synip | IDDGIP|PP2C-DELTA|WIP1 | |
| Cytomap | 17q22 | 17q23.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | syntaxin-binding protein 4STX4-interacting proteinsyntaxin 4 interacting protein | protein phosphatase 1Dprotein phosphatase 1D magnesium-dependent, delta isoformprotein phosphatase 2C delta isoformprotein phosphatase Wip1wild-type p53-induced phosphatase 1 | |
| Modification date | 20180520 | 20180519 | |
| UniProtAcc | Q6ZWJ1 | O15297 | |
| Ensembl transtripts involved in fusion gene | ENST00000299341, ENST00000376352, ENST00000405898, ENST00000434978, ENST00000398391, | ENST00000305921, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/32*10)=-0.0931094043914815 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: STXBP4 [Title/Abstract] AND PPM1D [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 | STXBP4 | GO:0006974 | cellular response to DNA damage stimulus | 19451233 |
| Hgene | STXBP4 | GO:0061178 | regulation of insulin secretion involved in cellular response to glucose stimulus | 12855681 |
| Tgene | PPM1D | GO:0035970 | peptidyl-threonine dephosphorylation | 20801214 |
| 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 | LD | BRCA | TCGA-A8-A09I-01A | STXBP4 | chr17 | 53124515 | + | PPM1D | chr17 | 58700882 | + |
| * 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-3CDS | ENST00000299341 | ENST00000305921 | STXBP4 | chr17 | 53124515 | + | PPM1D | chr17 | 58700882 | + |
| Frame-shift | ENST00000376352 | ENST00000305921 | STXBP4 | chr17 | 53124515 | + | PPM1D | chr17 | 58700882 | + |
| intron-3CDS | ENST00000405898 | ENST00000305921 | STXBP4 | chr17 | 53124515 | + | PPM1D | chr17 | 58700882 | + |
| intron-3CDS | ENST00000434978 | ENST00000305921 | STXBP4 | chr17 | 53124515 | + | PPM1D | chr17 | 58700882 | + |
| intron-3CDS | ENST00000398391 | ENST00000305921 | STXBP4 | chr17 | 53124515 | + | PPM1D | chr17 | 58700882 | + |
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FusionProtFeatures for STXBP4_PPM1D |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| STXBP4 | PPM1D |
| Plays a role in the translocation of transport vesiclesfrom the cytoplasm to the plasma membrane. Inhibits thetranslocation of SLC2A4 from intracellular vesicles to the plasmamembrane by STX4A binding and preventing the interaction betweenSTX4A and VAMP2. Stimulation with insulin disrupts the interactionwith STX4A, leading to increased levels of SLC2A4 at the plasmamembrane. May also play a role in the regulation of insulinrelease by pancreatic beta cells after stimulation by glucose (Bysimilarity). {ECO:0000250}. | Involved in the negative regulation of p53 expression(PubMed:23242139). Required for the relief of p53-dependentcheckpoint mediated cell cycle arrest. Binds to anddephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 whichcontributes to the functional inactivation of these proteins(PubMed:15870257, PubMed:16311512). Mediates MAPK14dephosphorylation and inactivation (PubMed:21283629). Is also animportant regulator of global heterochromatin silencing andcritical in maintaining genome integrity (By similarity).{ECO:0000250|UniProtKB:Q9QZ67, ECO:0000269|PubMed:15870257,ECO:0000269|PubMed:16311512, ECO:0000269|PubMed:21283629,ECO:0000269|PubMed:23242139}. |
| 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 STXBP4_PPM1D |
| 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 STXBP4_PPM1D |
| 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 |
| STXBP4 | ATN1, LATS2, KLHL42, PRRG4, TMEM171, C20orf195, SUSD6, MBIP, FAM189A2, VPS28, LDLRAD4, TP53, OFD1, CNTROB, CEP128, PTPN13, ERP44, PTPN14, WDTC1, CDR2, ARRDC3, RGS2, CCDC120, PLK1, PMF1, MPP5, PTPN21 | PPM1D | CDC5L, MDM2, H2AFX, RAD21, UBC, KDM1A, BEX2, CASZ1, DIRAS3, DKK3, EPSTI1, ERRFI1, GLCE, ITIH5, LYPD3, MRC2, NAT2, OSGIN1, RHOBTB2, WHSC1L1, KPNA2, KPNA3, KPNB1, NUP153, PSMD4, RANBP2, SPAG9, CHEK2 |
| - 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 STXBP4_PPM1D |
| 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 STXBP4_PPM1D |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PPM1D | C0017638 | Glioma | 1 | CTD_human |
| Tgene | PPM1D | C0677866 | Brain Stem Neoplasms | 1 | CTD_human |
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