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Fusion gene ID: 28710 |
FusionGeneSummary for PRKCA_CACNG5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRKCA_CACNG5 | Fusion gene ID: 28710 | Hgene | Tgene | Gene symbol | PRKCA | CACNG5 | Gene ID | 5578 | 27091 |
| Gene name | protein kinase C alpha | calcium voltage-gated channel auxiliary subunit gamma 5 | |
| Synonyms | AAG6|PKC-alpha|PKCA|PRKACA | - | |
| Cytomap | 17q24.2 | 17q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein kinase C alpha typePKC-Aaging-associated gene 6 | voltage-dependent calcium channel gamma-5 subunitTARP gamma-5calcium channel, voltage-dependent, gamma subunit 5neuronal voltage-gated calcium channel gamma-5 subunittransmembrane AMPAR regulatory protein gamma-5 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P17252 | Q9UF02 | |
| Ensembl transtripts involved in fusion gene | ENST00000413366, ENST00000583361, | ENST00000533854, ENST00000169565, ENST00000307139, | |
| Fusion gene scores | * DoF score | 27 X 12 X 10=3240 | 1 X 1 X 1=1 |
| # samples | 29 | 1 | |
| ** MAII score | log2(29/3240*10)=-3.48186900775705 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PRKCA [Title/Abstract] AND CACNG5 [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 | PRKCA | GO:0006468 | protein phosphorylation | 10770950 |
| Hgene | PRKCA | GO:0035408 | histone H3-T6 phosphorylation | 20228790 |
| Hgene | PRKCA | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 20011604 |
| Hgene | PRKCA | GO:0090330 | regulation of platelet aggregation | 12724315 |
| 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 | ESCA | TCGA-R6-A6Y0-01B | PRKCA | chr17 | 64302245 | + | CACNG5 | chr17 | 64873348 | + |
| * 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-5UTR | ENST00000413366 | ENST00000533854 | PRKCA | chr17 | 64302245 | + | CACNG5 | chr17 | 64873348 | + |
| 5CDS-intron | ENST00000413366 | ENST00000169565 | PRKCA | chr17 | 64302245 | + | CACNG5 | chr17 | 64873348 | + |
| 5CDS-intron | ENST00000413366 | ENST00000307139 | PRKCA | chr17 | 64302245 | + | CACNG5 | chr17 | 64873348 | + |
| 3UTR-5UTR | ENST00000583361 | ENST00000533854 | PRKCA | chr17 | 64302245 | + | CACNG5 | chr17 | 64873348 | + |
| 3UTR-intron | ENST00000583361 | ENST00000169565 | PRKCA | chr17 | 64302245 | + | CACNG5 | chr17 | 64873348 | + |
| 3UTR-intron | ENST00000583361 | ENST00000307139 | PRKCA | chr17 | 64302245 | + | CACNG5 | chr17 | 64873348 | + |
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FusionProtFeatures for PRKCA_CACNG5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PRKCA | CACNG5 |
| Calcium-activated, phospholipid- and diacylglycerol(DAG)-dependent serine/threonine-protein kinase that is involvedin positive and negative regulation of cell proliferation,apoptosis, differentiation, migration and adhesion, tumorigenesis,cardiac hypertrophy, angiogenesis, platelet function andinflammation, by directly phosphorylating targets such as RAF1,BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involvingMAPK1/3 (ERK1/2) and RAP1GAP. Involved in cell proliferation andcell growth arrest by positive and negative regulation of the cellcycle. Can promote cell growth by phosphorylating and activatingRAF1, which mediates the activation of the MAPK/ERK signalingcascade, and/or by up-regulating CDKN1A, which facilitates activecyclin-dependent kinase (CDK) complex formation in glioma cells.In intestinal cells stimulated by the phorbol ester PMA, cantrigger a cell cycle arrest program which is associated with theaccumulation of the hyper-phosphorylated growth-suppressive formof RB1 and induction of the CDK inhibitors CDKN1A and CDKN1B.Exhibits anti-apoptotic function in glioma cells and protects themfrom apoptosis by suppressing the p53/TP53-mediated activation ofIGFBP3, and in leukemia cells mediates anti-apoptotic action byphosphorylating BCL2. During macrophage differentiation induced bymacrophage colony-stimulating factor (CSF1), is translocated tothe nucleus and is associated with macrophage development. Afterwounding, translocates from focal contacts to lamellipodia andparticipates in the modulation of desmosomal adhesion. Plays arole in cell motility by phosphorylating CSPG4, which inducesassociation of CSPG4 with extensive lamellipodia at the cellperiphery and polarization of the cell accompanied by increases incell motility. During chemokine-induced CD4(+) T cell migration,phosphorylates CDC42-guanine exchange factor DOCK8 resulting inits dissociation from LRCH1 and the activation of GTPase CDC42(PubMed:28028151). Is highly expressed in a number of cancer cellswhere it can act as a tumor promoter and is implicated inmalignant phenotypes of several tumors such as gliomas and breastcancers. Negatively regulates myocardial contractility andpositively regulates angiogenesis, platelet aggregation andthrombus formation in arteries. Mediates hypertrophic growth ofneonatal cardiomyocytes, in part through a MAPK1/3 (ERK1/2)-dependent signaling pathway, and upon PMA treatment, is requiredto induce cardiomyocyte hypertrophy up to heart failure and death,by increasing protein synthesis, protein-DNA ratio and cellsurface area. Regulates cardiomyocyte function by phosphorylatingcardiac troponin T (TNNT2/CTNT), which induces significantreduction in actomyosin ATPase activity, myofilament calciumsensitivity and myocardial contractility. In angiogenesis, isrequired for full endothelial cell migration, adhesion tovitronectin (VTN), and vascular endothelial growth factor A(VEGFA)-dependent regulation of kinase activation and vasculartube formation. Involved in the stabilization of VEGFA mRNA atpost-transcriptional level and mediates VEGFA-induced cellproliferation. In the regulation of calcium-induced plateletaggregation, mediates signals from the CD36/GP4 receptor forgranule release, and activates the integrin heterodimer ITGA2B-ITGB3 through the RAP1GAP pathway for adhesion. During response tolipopolysaccharides (LPS), may regulate selective LPS-inducedmacrophage functions involved in host defense and inflammation.But in some inflammatory responses, may negatively regulate NF-kappa-B-induced genes, through IL1A-dependent induction of NF-kappa-B inhibitor alpha (NFKBIA/IKBA). Upon stimulation with 12-O-tetradecanoylphorbol-13-acetate (TPA), phosphorylates EIF4G1,which modulates EIF4G1 binding to MKNK1 and may be involved in theregulation of EIF4E phosphorylation. Phosphorylates KIT, leadingto inhibition of KIT activity. Phosphorylates ATF2 which promotescooperation between ATF2 and JUN, activating transcription.{ECO:0000269|PubMed:10848585, ECO:0000269|PubMed:11909826,ECO:0000269|PubMed:12724315, ECO:0000269|PubMed:12832403,ECO:0000269|PubMed:15016832, ECO:0000269|PubMed:15504744,ECO:0000269|PubMed:15526160, ECO:0000269|PubMed:18056764,ECO:0000269|PubMed:19176525, ECO:0000269|PubMed:21576361,ECO:0000269|PubMed:23990668, ECO:0000269|PubMed:28028151,ECO:0000269|PubMed:9738012, ECO:0000269|PubMed:9830023,ECO:0000269|PubMed:9873035, ECO:0000269|PubMed:9927633}. | Regulates the gating properties of AMPA-selectiveglutamate receptors (AMPARs). Modulates their gating properties byaccelerating their rates of activation, deactivation anddesensitization. Displays subunit-specific AMPA receptorregulation. Shows specificity for GRIA1, GRIA4 and the longisoform of GRIA2. Thought to stabilize the calcium channel in aninactivated (closed) state (By similarity). {ECO:0000250}. |
| 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 PRKCA_CACNG5 |
| 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 PRKCA_CACNG5 |
| 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 |
| PRKCA | ATP1A1, HABP4, HAND1, HAND2, FSCN1, EGFR, SLC1A1, PLD1, KLF5, GABRB3, MGMT, PLD2, PICK1, GRM7, AKAP12, GJA1, YWHAG, C1QBP, AVPR1A, AVPR1B, GSK3B, RGS2, OGG1, YWHAZ, TIAM1, GNB2L1, ITGB1, AFAP1, EZR, DLG4, LMNB1, LMNA, CD53, CD9, TRIM41, HMGA1, HMGA2, TNP1, TNP2, HIST1H3A, CHUK, IKBKB, NFE2L2, PRKCA, MTOR, TRPV6, AKAP5, DDX58, HIST1H1A, HIST1H1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1T, EIF4EBP1, MBP, HDAC6, CTNNB1, NR1H2, ELAVL1, HIST3H3, ANXA6, LNX1, LNX2, GLI3, IBTK, SCRIB, CBL, TOP2A, RICTOR, MAPKAP1, SELL, PFKFB1, NCF1, ACIN1, DSP, RALBP1, PPP1R14A, PLCG2, VTN, SDC2, ITGB2, HSP90AA1, GSK3A, GRIN1, GRIN2B, CASR, RRAD, NFKBIA, HMGN1, HMGN2, NPM1, NUMB, FBXO25, CDKN2A, PSMB4, SACM1L, PTGIR, TBXA2R, CYP3A4, RBCK1, RNF31, MOV10, NXF1, EP300, PPARG, CCDC8, EIF2S1, SLC25A41, SLC25A11, TAS2R7, TMEM185A, JSRP1, CCNL2, VPS4B, UQCRB, WWC2, WWC3, WWC1, MAPK7, NTRK1, NOXA1, GRM5, AKAP13, STXBP1, SPAG1, BTG2, CACYBP, SLC9A3R1, SLC9A3R2, KIF2A, KIF11, FAS, NF2, PLA2G4A, SMURF1, PRKCB, PRKCG, PRKCH, PIP5K1A, SHCBP1, GCLM, STARD7, CYP2S1, FGD4, DUSP11, FBXO21, HR, PPM1A, ATM, TES | CACNG5 | HELZ2, ZNF142, SCAI, PLD1, ARHGEF39, MIS18BP1, PRKRIR, MBLAC2, MCM10, PLD2, ZC3H3, SGPL1, ZNF865, TTLL5, ZNF445, RNF166, GRN, ABT1, TRRAP, CSNK1E, RABEPK, ZNF775, CTC1, ZNF316, OBFC1, SPAG9, ZNF324, EPB41L3, POLRMT, ZNF770, OBSL1, LGALS3, PIK3CB, TSR3, ZNF267, ZNF574, CSNK1D, CISD3, CSNK1G3 |
| - 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 PRKCA_CACNG5 |
| 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 |
| Hgene | PRKCA | P17252 | DB00675 | Tamoxifen | Protein kinase C alpha type | small molecule | approved |
| Hgene | PRKCA | P17252 | DB05013 | Ingenol Mebutate | Protein kinase C alpha type | small molecule | approved |
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RelatedDiseases for PRKCA_CACNG5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PRKCA | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | PRKCA | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Hgene | PRKCA | C0018800 | Cardiomegaly | 1 | CTD_human |
| Hgene | PRKCA | C0021841 | Intestinal Neoplasms | 1 | CTD_human |
| Hgene | PRKCA | C0032617 | Polyuria | 1 | CTD_human |
| Hgene | PRKCA | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | PRKCA | C0036337 | Schizoaffective Disorder | 1 | PSYGENET |
| Hgene | PRKCA | C0162283 | Nephrogenic Diabetes Insipidus | 1 | CTD_human |
| Hgene | PRKCA | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Tgene | CACNG5 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | CACNG5 | C0036341 | Schizophrenia | 1 | PSYGENET |
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