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Fusion gene ID: 29115 |
FusionGeneSummary for PSMA6_PRKD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PSMA6_PRKD1 | Fusion gene ID: 29115 | Hgene | Tgene | Gene symbol | PSMA6 | PRKD1 | Gene ID | 5687 | 5587 |
| Gene name | proteasome subunit alpha 6 | protein kinase D1 | |
| Synonyms | IOTA|PROS27|p27K | CHDED|PKC-MU|PKCM|PKD|PRKCM | |
| Cytomap | 14q13.2 | 14q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | proteasome subunit alpha type-627 kDa prosomal proteinPROS-27macropain iota chainmacropain subunit iotamulticatalytic endopeptidase complex iota chainprosomal P27K proteinproteasome (prosome, macropain) subunit, alpha type, 6proteasome iota chain | serine/threonine-protein kinase D1nPKC-D1nPKC-muprotein kinase C mu typeprotein kinase C, muprotein kinase D | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P60900 | Q15139 | |
| Ensembl transtripts involved in fusion gene | ENST00000540871, ENST00000261479, ENST00000553809, ENST00000555764, ENST00000556506, | ENST00000331968, ENST00000415220, ENST00000551644, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 5 X 5 X 4=100 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PSMA6 [Title/Abstract] AND PRKD1 [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 | PRKD1 | GO:0006468 | protein phosphorylation | 24623306 |
| Tgene | PRKD1 | GO:0018105 | peptidyl-serine phosphorylation | 18440775 |
| Tgene | PRKD1 | GO:0018107 | peptidyl-threonine phosphorylation | 22095288 |
| Tgene | PRKD1 | GO:0034599 | cellular response to oxidative stress | 12505989 |
| Tgene | PRKD1 | GO:0046777 | protein autophosphorylation | 24623306 |
| 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 | LGG | TCGA-DU-6402-01A | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| * 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 | ENST00000540871 | ENST00000331968 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| intron-intron | ENST00000540871 | ENST00000415220 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| intron-intron | ENST00000540871 | ENST00000551644 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5CDS-intron | ENST00000261479 | ENST00000331968 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5CDS-intron | ENST00000261479 | ENST00000415220 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5CDS-intron | ENST00000261479 | ENST00000551644 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5CDS-intron | ENST00000553809 | ENST00000331968 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5CDS-intron | ENST00000553809 | ENST00000415220 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5CDS-intron | ENST00000553809 | ENST00000551644 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5UTR-intron | ENST00000555764 | ENST00000331968 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5UTR-intron | ENST00000555764 | ENST00000415220 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5UTR-intron | ENST00000555764 | ENST00000551644 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5CDS-intron | ENST00000556506 | ENST00000331968 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5CDS-intron | ENST00000556506 | ENST00000415220 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
| 5CDS-intron | ENST00000556506 | ENST00000551644 | PSMA6 | chr14 | 35761758 | + | PRKD1 | chr14 | 30516993 | - |
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FusionProtFeatures for PSMA6_PRKD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PSMA6 | PRKD1 |
| Component of the 20S core proteasome complex involved inthe proteolytic degradation of most intracellular proteins. Thiscomplex plays numerous essential roles within the cell byassociating with different regulatory particles. Associated withtwo 19S regulatory particles, forms the 26S proteasome and thusparticipates in the ATP-dependent degradation of ubiquitinatedproteins. The 26S proteasome plays a key role in the maintenanceof protein homeostasis by removing misfolded or damaged proteinsthat could impair cellular functions, and by removing proteinswhose functions are no longer required. Associated with the PA200or PA28, the 20S proteasome mediates ubiquitin-independent proteindegradation. This type of proteolysis is required in severalpathways including spermatogenesis (20S-PA200 complex) orgeneration of a subset of MHC class I-presented antigenic peptides(20S-PA28 complex). {ECO:0000269|PubMed:15244466,ECO:0000269|PubMed:27176742, ECO:0000269|PubMed:8610016}. | Serine/threonine-protein kinase that converts transientdiacylglycerol (DAG) signals into prolonged physiological effectsdownstream of PKC, and is involved in the regulation of MAPK8/JNK1and Ras signaling, Golgi membrane integrity and trafficking, cellsurvival through NF-kappa-B activation, cell migration, celldifferentiation by mediating HDAC7 nuclear export, cellproliferation via MAPK1/3 (ERK1/2) signaling, and plays a role incardiac hypertrophy, VEGFA-induced angiogenesis, genotoxic-inducedapoptosis and flagellin-stimulated inflammatory response.Phosphorylates the epidermal growth factor receptor (EGFR) on dualthreonine residues, which leads to the suppression of epidermalgrowth factor (EGF)-induced MAPK8/JNK1 activation and subsequentJUN phosphorylation. Phosphorylates RIN1, inducing RIN1 binding to14-3-3 proteins YWHAB, YWHAE and YWHAZ and increased competitionwith RAF1 for binding to GTP-bound form of Ras proteins (NRAS,HRAS and KRAS). Acts downstream of the heterotrimeric G-proteinbeta/gamma-subunit complex to maintain the structural integrity ofthe Golgi membranes, and is required for protein transport alongthe secretory pathway. In the trans-Golgi network (TGN), regulatesthe fission of transport vesicles that are on their way to theplasma membrane. May act by activating the lipid kinasephosphatidylinositol 4-kinase beta (PI4KB) at the TGN for thelocal synthesis of phosphorylated inositol lipids, which induces asequential production of DAG, phosphatidic acid (PA) and lyso-PA(LPA) that are necessary for membrane fission and generation ofspecific transport carriers to the cell surface. Under oxidativestress, is phosphorylated at Tyr-463 via SRC-ABL1 and contributesto cell survival by activating IKK complex and subsequent nucleartranslocation and activation of NFKB1. Involved in cell migrationby regulating integrin alpha-5/beta-3 recycling and promoting itsrecruitment in newly forming focal adhesion. In osteoblastdifferentiation, mediates the bone morphogenetic protein 2 (BMP2)-induced nuclear export of HDAC7, which results in the inhibitionof HDAC7 transcriptional repression of RUNX2. In neurons, plays animportant role in neuronal polarity by regulating the biogenesisof TGN-derived dendritic vesicles, and is involved in themaintenance of dendritic arborization and Golgi structure inhippocampal cells. May potentiate mitogenesis induced by theneuropeptide bombesin or vasopressin by mediating an increase inthe duration of MAPK1/3 (ERK1/2) signaling, which leads toaccumulation of immediate-early gene products including FOS thatstimulate cell cycle progression. Plays an important role in theproliferative response induced by low calcium in keratinocytes,through sustained activation of MAPK1/3 (ERK1/2) pathway.Downstream of novel PKC signaling, plays a role in cardiachypertrophy by phosphorylating HDAC5, which in turn triggersXPO1/CRM1-dependent nuclear export of HDAC5, MEF2A transcriptionalactivation and induction of downstream target genes that promotemyocyte hypertrophy and pathological cardiac remodeling. Mediatescardiac troponin I (TNNI3) phosphorylation at the PKA sites, whichresults in reduced myofilament calcium sensitivity, andaccelerated crossbridge cycling kinetics. The PRKD1-HDAC5 pathwayis also involved in angiogenesis by mediating VEGFA-inducedspecific subset of gene expression, cell migration, and tubeformation. In response to VEGFA, is necessary and required forHDAC7 phosphorylation which induces HDAC7 nuclear export andendothelial cell proliferation and migration. During apoptosisinduced by cytarabine and other genotoxic agents, PRKD1 is cleavedby caspase-3 at Asp-378, resulting in activation of its kinasefunction and increased sensitivity of cells to the cytotoxiceffects of genotoxic agents. In epithelial cells, is required fortransducing flagellin-stimulated inflammatory responses by bindingand phosphorylating TLR5, which contributes to MAPK14/p38activation and production of inflammatory cytokines. May play arole in inflammatory response by mediating activation of NF-kappa-B. May be involved in pain transmission by directly modulatingTRPV1 receptor. Plays a role in activated KRAS-mediatedstabilization of ZNF304 in colorectal cancer (CRC) cells(PubMed:24623306). Regulates nuclear translocation oftranscription factor TFEB in macrophages upon live S.entericainfection (By similarity). {ECO:0000250|UniProtKB:Q62101,ECO:0000269|PubMed:10523301, ECO:0000269|PubMed:10764790,ECO:0000269|PubMed:12505989, ECO:0000269|PubMed:12637538,ECO:0000269|PubMed:15471852, ECO:0000269|PubMed:17442957,ECO:0000269|PubMed:18332134, ECO:0000269|PubMed:18509061,ECO:0000269|PubMed:19135240, ECO:0000269|PubMed:19211839,ECO:0000269|PubMed:24623306}. |
| 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 PSMA6_PRKD1 |
| 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 PSMA6_PRKD1 |
| 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 |
| PSMA6 | PSMD13, PSMA3, PLK1, UBQLN2, USP14, USP53, SLX1B, CUL1, RBX1, PSMA4, PSMA2, RNF185, UBC, XBP1, UBD, PSMD4, PSMD14, ADRM1, PSMD1, TXNL1, RAD23A, SHFM1, PSME1, PSMA7, PSMA1, PPP3CA, CCND1, CCNE1, CCNA2, CCNB1, CDK4, CDK1, CDK2, CCNF, GPS1, COPS5, PSMD6, PSMC1, FKBP8, NEDD8, DNAJB2, KIAA0368, COPS2, UCHL5, POMP, PSMB6, PSMB5, PSMB8, USP4, PSMA5, PSMB1, PSMB2, PSMB3, PSMB4, PSMB7, PSMC6, PSMC3, PSMC4, PSMC2, PSMD2, PSMD3, PSMD8, PSMC5, PSMD12, PSMD11, PSMD7, PSMD5, PSME2, PSME3, PSMA8, SF3A1, CCT5, SNRPA1, TPM4, CCT4, CCT3, EEF1A1, CCT8, TARDBP, BRCA1, ECT2, LIG4, PAXIP1, FN1, VCAM1, IQCB1, NOS2, ITGA4, PARK2, BAG3, CAST, HNRNPA2B1, PYCRL, RPP30, RPP38, PSMG1, PSMG3, PSMG2, AURKA, HUWE1, CADM1, ZBTB44, TRIM39, C19orf57, LIMD2, RNF170, KRTAP4-2, RTP5, RNF2, AMFR, SYVN1, BUB1B, VCP, UBQLN1, UBXN4, PSMB9, HSPB1, AMBRA1, ACTN4, CAND2, CAPZA1, ELP6, EXOSC4, EXOSC6, EXOSC9, ISY1-RAB43, ISY1, NELFE, PGK1, POLR2A, DNAJA2, EXOSC5, TPM3, WDR11, NTRK1, FBXO7, MID1, CEP85, PSMA6, DERL1, CYLD, SOD1, MAP1LC3B, SQSTM1 | PRKD1 | MT2A, HDAC5, ADAP1, YWHAZ, BTK, MAPK9, MAPK8, JUN, C1QBP, YWHAQ, PLCG1, SYK, PLCG2, HDAC7, HSPB1, COPS7A, COPS2, COPS5, TP53, PRKD1, IBTK, AKAP13, PPP1R14A, HSP90AA1, BAD, GAN, TFAP2A, NOS1, USP28, FUCA1, SIX2, SLC9A3R2, YAP1, SNAI1 |
| - 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 PSMA6_PRKD1 |
| 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 PSMA6_PRKD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PSMA6 | C0019693 | HIV Infections | 1 | CTD_human |
| Hgene | PSMA6 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Tgene | PRKD1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | PRKD1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | PRKD1 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
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