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Fusion gene ID: 39206 |
FusionGeneSummary for TPGS1_PRKACA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TPGS1_PRKACA | Fusion gene ID: 39206 | Hgene | Tgene | Gene symbol | TPGS1 | PRKACA | Gene ID | 91978 | 5578 |
| Gene name | tubulin polyglutamylase complex subunit 1 | protein kinase C alpha | |
| Synonyms | C19orf20|GTRGEO22|PGs1 | AAG6|PKC-alpha|PKCA|PRKACA | |
| Cytomap | 19p13.3 | 17q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tubulin polyglutamylase complex subunit 1gene trap ROSA b-geo 22 | protein kinase C alpha typePKC-Aaging-associated gene 6 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q6ZTW0 | P17612 | |
| Ensembl transtripts involved in fusion gene | ENST00000359315, | ENST00000308677, ENST00000350356, ENST00000590853, ENST00000589994, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 2=18 |
| # samples | 2 | 9 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(9/18*10)=2.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TPGS1 [Title/Abstract] AND PRKACA [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 | PRKACA | GO:0006468 | protein phosphorylation | 10770950 |
| Tgene | PRKACA | GO:0035408 | histone H3-T6 phosphorylation | 20228790 |
| Tgene | PRKACA | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 20011604 |
| Tgene | PRKACA | 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 | BRCA | TCGA-AN-A0XT-01A | TPGS1 | chr19 | 507844 | + | PRKACA | chr19 | 14204049 | - |
| * 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 |
| Frame-shift | ENST00000359315 | ENST00000308677 | TPGS1 | chr19 | 507844 | + | PRKACA | chr19 | 14204049 | - |
| 5CDS-5UTR | ENST00000359315 | ENST00000350356 | TPGS1 | chr19 | 507844 | + | PRKACA | chr19 | 14204049 | - |
| 5CDS-intron | ENST00000359315 | ENST00000590853 | TPGS1 | chr19 | 507844 | + | PRKACA | chr19 | 14204049 | - |
| 5CDS-intron | ENST00000359315 | ENST00000589994 | TPGS1 | chr19 | 507844 | + | PRKACA | chr19 | 14204049 | - |
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FusionProtFeatures for TPGS1_PRKACA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TPGS1 | PRKACA |
| May act in the targeting of the tubulin polyglutamylasecomplex. Required for the development of the spermatid flagellum(By similarity). {ECO:0000250}. | Phosphorylates a large number of substrates in thecytoplasm and the nucleus. Regulates the abundance ofcompartmentalized pools of its regulatory subunits throughphosphorylation of PJA2 which binds and ubiquitinates thesesubunits, leading to their subsequent proteolysis. PhosphorylatesCDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA and VASP.RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenicdifferentiation inhibition from osteoblasts. Involved in theregulation of platelets in response to thrombin and collagen;maintains circulating platelets in a resting state byphosphorylating proteins in numerous platelet inhibitory pathwayswhen in complex with NF-kappa-B (NFKB1 and NFKB2) and I-kappa-B-alpha (NFKBIA), but thrombin and collagen disrupt these complexesand free active PRKACA stimulates platelets and leads to plateletaggregation by phosphorylating VASP. Prevents theantiproliferative and anti-invasive effects of alpha-difluoromethylornithine in breast cancer cells when activated.RYR2 channel activity is potentiated by phosphorylation inpresence of luminal Ca(2+), leading to reduced amplitude andincreased frequency of store overload-induced Ca(2+) release(SOICR) characterized by an increased rate of Ca(2+) release andpropagation velocity of spontaneous Ca(2+) waves, despite reducedwave amplitude and resting cytosolic Ca(2+). PSMC5/RPT6 activationby phosphorylation stimulates proteasome. Negatively regulatestight junctions (TJs) in ovarian cancer cells via CLDN3phosphorylation. NFKB1 phosphorylation promotes NF-kappa-B p50-p50DNA binding. Involved in embryonic development by down-regulatingthe Hedgehog (Hh) signaling pathway that determines embryo patternformation and morphogenesis. Prevents meiosis resumption inprophase-arrested oocytes via CDC25B inactivation byphosphorylation. May also regulate rapid eye movement (REM) sleepin the pedunculopontine tegmental (PPT). Phosphorylates APOBEC3Gand AICDA. Isoform 2 phosphorylates and activates ABL1 in spermflagellum to promote spermatozoa capacitation. PhosphorylatesHSF1; this phosphorylation promotes HSF1 nuclear localization andtranscriptional activity upon heat shock (PubMed:21085490).{ECO:0000269|PubMed:15642694, ECO:0000269|PubMed:15905176,ECO:0000269|PubMed:16387847, ECO:0000269|PubMed:17333334,ECO:0000269|PubMed:17565987, ECO:0000269|PubMed:17693412,ECO:0000269|PubMed:18836454, ECO:0000269|PubMed:19949837,ECO:0000269|PubMed:20356841, ECO:0000269|PubMed:21085490,ECO:0000269|PubMed:21423175, ECO:0000269|PubMed:21514275,ECO:0000269|PubMed:21812984}. |
| 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 TPGS1_PRKACA |
| 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 TPGS1_PRKACA |
| 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 |
| TPGS1 | MAGED2, EIF3F, TTLL1, BTRC, PCM1, SSX2IP, MKS1, KIAA0753, CEP290, CNTROB, SPICE1, CEP128, CEP135, STIL, CENPJ, NICN1, LRRC49, SMG8 | PRKACA | AKIP1, PKIG, PRKAR1A, RASGRP3, GAD2, GAD1, TRIP10, HAND1, HAND2, IQGAP1, NIN, GABRB3, MGMT, IRF2, RYR2, ASIC3, ASIC1, KCNQ1, PPP1R8, PKIA, CAMKK2, BAD, CREB1, EGFR, CAV1, PDPK1, APOBEC3G, USP49, BTRC, POU2F1, CLTC, RANBP9, SIK3, CCDC88A, MEF2D, HDAC1, TNP1, TNP2, RGS13, HDAC8, CFTR, ITCH, CUL3, UHRF1, RELA, MAPT, PDE4D, AKAP13, GSK3A, GSK3B, PFKFB1, PRKACB, VTN, RRAD, PPP1R10, TP73, AICDA, USO1, SIK1, WASF1, NOXA1, ANXA7, CALD1, ITGA2B, DYRK1B, TBXA2R, GNA13, CYP3A4, AARSD1, MARCKS, NASP, ARPC1A, ARPC2, ARPC3, ARPC5, ARPC5L, CALR, CALU, TRMT10A, RPA2, SH3GLB1, TPD52, SH3GL1, UBQLN2, UGDH, VAPB, HSP90AA1, HSP90AB1, PRKAR2A, PRKACG, AKAP5, PRKAR1B, PRKAR2B, DCAF7, DYNLL1, DYRK1A, MAPRE1, PDE4DIP, NXPE4, GPR161, AKAP1, CDK5RAP2, AKAP9, C2orf88, VAPA, AKAP7, AKAP11, PALM2-AKAP2, MOV10, NXF1, PDE3A, ABCE1, FBXW11, AKAP14, DNAJA3, RPE, USP20, CRK, CEP128, CNTRL, FBF1, POC5, XPO1, TUBG1, GTSE1, MAP3K3, PSMD11, KLHL3, DACT1, FOXO1, PTPN7, NFAT5, FGF2, SBF1, DOCK1, UBE2N, DRD1, GLI1, YWHAZ, CDKN1A, HNF4A |
| - 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 TPGS1_PRKACA |
| 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 TPGS1_PRKACA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PRKACA | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
| Tgene | PRKACA | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| Tgene | PRKACA | C4014425 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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