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Fusion gene ID: 33997 |
FusionGeneSummary for SKI_PRKCZ |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SKI_PRKCZ | Fusion gene ID: 33997 | Hgene | Tgene | Gene symbol | SKI | PRKCZ | Gene ID | 6497 | 5590 |
| Gene name | SKI proto-oncogene | protein kinase C zeta | |
| Synonyms | SGS|SKV | PKC-ZETA|PKC2 | |
| Cytomap | 1p36.33-p36.32 | 1p36.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ski oncogeneproto-oncogene c-Skiski oncoproteinv-ski avian sarcoma viral oncogene homolog | protein kinase C zeta typenPKC-zeta | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P12755 | Q05513 | |
| Ensembl transtripts involved in fusion gene | ENST00000378536, ENST00000478223, | ENST00000400921, ENST00000400920, ENST00000479263, | |
| Fusion gene scores | * DoF score | 11 X 5 X 8=440 | 9 X 8 X 5=360 |
| # samples | 13 | 10 | |
| ** MAII score | log2(13/440*10)=-1.7589919004962 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/360*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SKI [Title/Abstract] AND PRKCZ [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Kinase involved fusion gene, inframe and retained kinase domain. | ||
| * 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 | SKI | GO:0000122 | negative regulation of transcription by RNA polymerase II | 17469184 |
| Hgene | SKI | GO:0008285 | negative regulation of cell proliferation | 11430826 |
| Hgene | SKI | GO:0014902 | myotube differentiation | 19008232 |
| Hgene | SKI | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 17469184 |
| Hgene | SKI | GO:0030514 | negative regulation of BMP signaling pathway | 14699069 |
| Hgene | SKI | GO:0032926 | negative regulation of activin receptor signaling pathway | 14699069 |
| Hgene | SKI | GO:0043388 | positive regulation of DNA binding | 15107821 |
| Hgene | SKI | GO:0045668 | negative regulation of osteoblast differentiation | 14699069 |
| Hgene | SKI | GO:0060395 | SMAD protein signal transduction | 12874272 |
| Hgene | SKI | GO:0070207 | protein homotrimerization | 8514802 |
| Tgene | PRKCZ | GO:0006468 | protein phosphorylation | 10770950|17313651 |
| Tgene | PRKCZ | GO:0018105 | peptidyl-serine phosphorylation | 15069075 |
| 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 | BLCA | TCGA-4Z-AA7Q-01A | SKI | chr1 | 2161174 | + | PRKCZ | chr1 | 2087434 | + |
| * 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 |
| In-frame | ENST00000378536 | ENST00000400921 | SKI | chr1 | 2161174 | + | PRKCZ | chr1 | 2087434 | + |
| In-frame | ENST00000378536 | ENST00000400920 | SKI | chr1 | 2161174 | + | PRKCZ | chr1 | 2087434 | + |
| 5CDS-3UTR | ENST00000378536 | ENST00000479263 | SKI | chr1 | 2161174 | + | PRKCZ | chr1 | 2087434 | + |
| intron-3CDS | ENST00000478223 | ENST00000400921 | SKI | chr1 | 2161174 | + | PRKCZ | chr1 | 2087434 | + |
| intron-3CDS | ENST00000478223 | ENST00000400920 | SKI | chr1 | 2161174 | + | PRKCZ | chr1 | 2087434 | + |
| intron-3UTR | ENST00000478223 | ENST00000479263 | SKI | chr1 | 2161174 | + | PRKCZ | chr1 | 2087434 | + |
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FusionProtFeatures for SKI_PRKCZ |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SKI | PRKCZ |
| May play a role in terminal differentiation of skeletalmuscle cells but not in the determination of cells to the myogeniclineage. Functions as a repressor of TGF-beta signaling.{ECO:0000269|PubMed:19049980}. | Calcium- and diacylglycerol-independentserine/threonine-protein kinase that functions inphosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activatedprotein (MAP) kinase cascade, and is involved in NF-kappa-Bactivation, mitogenic signaling, cell proliferation, cellpolarity, inflammatory response and maintenance of long-termpotentiation (LTP). Upon lipopolysaccharide (LPS) treatment inmacrophages, or following mitogenic stimuli, functions downstreamof PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signaling cascadeindependently of RAF1 activation. Required for insulin-dependentactivation of AKT3, but may function as an adapter rather than adirect activator. Upon insulin treatment may act as a downstreameffector of PI3K and contribute to the activation of translocationof the glucose transporter SLC2A4/GLUT4 and subsequent glucosetransport in adipocytes. In EGF-induced cells, binds and activatesMAP2K5/MEK5-MAPK7/ERK5 independently of its kinase activity andcan activate JUN promoter through MEF2C. Through binding withSQSTM1/p62, functions in interleukin-1 signaling and activation ofNF-kappa-B with the specific adapters RIPK1 and TRAF6.Participates in TNF-dependent transactivation of NF-kappa-B byphosphorylating and activating IKBKB kinase, which in turn leadsto the degradation of NF-kappa-B inhibitors. In migratingastrocytes, forms a cytoplasmic complex with PARD6A and isrecruited by CDC42 to function in the establishment of cellpolarity along with the microtubule motor and dynein. Inassociation with FEZ1, stimulates neuronal differentiation in PC12cells. In the inflammatory response, is required for the T-helper2 (Th2) differentiation process, including interleukin production,efficient activation of JAK1 and the subsequent phosphorylationand nuclear translocation of STAT6. May be involved in developmentof allergic airway inflammation (asthma), a process dependent onTh2 immune response. In the NF-kappa-B-mediated inflammatoryresponse, can relieve SETD6-dependent repression of NF-kappa-Btarget genes by phosphorylating the RELA subunit at 'Ser-311'.Necessary and sufficient for LTP maintenance in hippocampal CA1pyramidal cells. In vein endothelial cells treated with theoxidant peroxynitrite, phosphorylates STK11 leading to nuclearexport of STK11, subsequent inhibition of PI3K/Akt signaling, andincreased apoptosis. Phosphorylates VAMP2 in vitro(PubMed:17313651). {ECO:0000269|PubMed:11035106,ECO:0000269|PubMed:12162751, ECO:0000269|PubMed:15084291,ECO:0000269|PubMed:15324659, ECO:0000269|PubMed:17313651,ECO:0000269|PubMed:18321849, ECO:0000269|PubMed:9447975}. |
| 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 |
| Tgene | >PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400920 | + | 5 | 15 | 252_518 | 109 | 410 | Domain | Protein kinase |
| Tgene | >PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400920 | + | 5 | 15 | 519_590 | 109 | 410 | Domain | Note=AGC-kinase C-terminal |
| Tgene | >PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400921 | + | 5 | 15 | 252_518 | 109 | 410 | Domain | Protein kinase |
| Tgene | >PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400921 | + | 5 | 15 | 519_590 | 109 | 410 | Domain | Note=AGC-kinase C-terminal |
| Tgene | >PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400920 | + | 5 | 15 | 258_266 | 109 | 410 | Nucleotide binding | ATP |
| Tgene | >PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400921 | + | 5 | 15 | 258_266 | 109 | 410 | Nucleotide binding | ATP |
| Tgene | >PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400920 | + | 5 | 15 | 130_180 | 109 | 410 | Zinc finger | Phorbol-ester/DAG-type |
| Tgene | >PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400921 | + | 5 | 15 | 130_180 | 109 | 410 | Zinc finger | Phorbol-ester/DAG-type |
| - 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 |
| Hgene | >SKI | chr1:2161174 | chr1:2087434 | ENST00000378536 | + | 1 | 7 | 536_710 | 323 | 729 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400920 | + | 5 | 15 | 15_98 | 109 | 410 | Domain | PB1 |
| Tgene | PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400921 | + | 5 | 15 | 15_98 | 109 | 410 | Domain | PB1 |
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FusionGeneSequence for SKI_PRKCZ |
| 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 SKI_PRKCZ |
| 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 |
| SKI | SNW1, HIPK2, SMAD1, SMAD2, SMAD3, SMAD4, PML, NCOR1, SIN3A, JUN, NFIX, SKI, SKIL, MECP2, HDAC3, RARA, PRDM16, PRMT5, TBL1XR1, SIX1, EYA3, GLI2, GLI3, GATA1, RB1, MYB, TRIM28, SMAD5, SPI1, SIAH2, TP53, SIRT1, TGFBR1, ESR1, UBE2I, RNF111, RB1CC1, AXIN1, AKT1, AKT2, DYRK1B, NLK, LTBR, LATS2, STK38, STK38L, MERTK, SAV1, MOB1A, MOB1B, TEAD1, TEAD4, PLEC, ACTB, HSPA8, TUBA1A, TUBA1B, TUBB6, TUBB, TUBB2A, HSPA9, HSPA5, ACTBL2, ATP5A1, PRDX1, PYGB, TUBA4A, CAD, RPL4, HSPA1L, PRKDC, SLC25A5, ATP5B, PFKP, HSP90AB1, TCP1, MVP, RPL18, AHNAK, SLC25A6, HSPA6, RPL12, ITGB4, LDHA, TUFM, PPM1B, SLC25A4, SQSTM1, WDR26, RPS3, GNB2L1, RPS16, PABPC1, DDX5, EPPK1, ATP1A1, NCL, HNRNPM, RPLP0, SLC25A13, SQRDL, HSPG2, PABPC4, AGRN, DYNC1H1, HADHB, RPS4X, RPL14, HSPD1, UQCRC2, RPL30, CCT3, COPB1, DCAF7, RANBP9, PCNA, ATP2A2, DIAPH1, HADHA, ATP5O, RALBP1, TRIM25, SMURF2 | PRKCZ | PDPK1, WWC1, PARD6A, ECT2, FEZ2, ADAP1, YWHAZ, IRAK1, NFATC2, SQSTM1, TRAF6, GRB14, DAPK3, KRT10, CSNK2B, C1QBP, RPS6KB1, NCL, AKT1, RELA, YWHAG, YWHAQ, YWHAH, RAF1, YWHAB, FADD, TIAM1, AKT3, FEZ1, SRC, PAWR, MAP2K5, PARD3, PARD6B, PARD6G, HSP90AA1, MSH6, MSH2, SP1, PRKCZ, TLR4, TLR9, STUB1, ZNF71, UTP14A, NMT2, DENND5A, CCDC115, PIAS4, TRIM41, MBP, NCOA3, ESR1, TFF1, CD44, VHL, AJUBA, LRRK2, NCF1, HIST1H1A, PPP1R14A, MARCKS, HIST1H1B, NPM1, CFL1, NUMB, AKT2, MAPK7, EGFR, ABL1, CKAP4, DYNLL1, LLGL1, LLGL2, PRKCI, GRM5, F11R, GSK3B, APPL1, GBAS, CDC42BPB |
| - 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 |
| Tgene | PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400920 | + | 5 | 15 | 79_145 | 109 | 410 | SQSTM1 |
| Tgene | PRKCZ | chr1:2161174 | chr1:2087434 | ENST00000400921 | + | 5 | 15 | 79_145 | 109 | 410 | SQSTM1 |
| - 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 SKI_PRKCZ |
| 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 SKI_PRKCZ |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SKI | C1321551 | Shprintzen-Goldberg syndrome | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | SKI | C0003486 | Aortic Aneurysm | 1 | CTD_human |
| Hgene | SKI | C0027794 | Neural Tube Defects | 1 | CTD_human |
| Hgene | SKI | C0151491 | Congenital musculoskeletal anomalies | 1 | CTD_human |
| Hgene | SKI | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | PRKCZ | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | PRKCZ | C0023418 | leukemia | 1 | CTD_human |
| Tgene | PRKCZ | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | PRKCZ | C1839839 | MAJOR AFFECTIVE DISORDER 2 | 1 | PSYGENET |
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