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Fusion gene ID: 15130 |
FusionGeneSummary for GPALPP1_PRKCQ |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GPALPP1_PRKCQ | Fusion gene ID: 15130 | Hgene | Tgene | Gene symbol | GPALPP1 | PRKCQ | Gene ID | 55425 | 5588 |
| Gene name | GPALPP motifs containing 1 | protein kinase C theta | |
| Synonyms | AD029|KIAA1704|LSR7|bA245H20.2 | PRKCT|nPKC-theta | |
| Cytomap | 13q14.12 | 10p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | GPALPP motifs-containing protein 1lipopolysaccharide specific response-7 proteinlipopolysaccharide-specific response protein 7 | protein kinase C theta type | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8IXQ4 | Q04759 | |
| Ensembl transtripts involved in fusion gene | ENST00000379151, ENST00000361121, ENST00000357537, ENST00000473119, | ENST00000263125, ENST00000397176, ENST00000539722, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 3 X 3 X 3=27 |
| # samples | 6 | 6 | |
| ** MAII score | log2(6/36*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/27*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: GPALPP1 [Title/Abstract] AND PRKCQ [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 | PRKCQ | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 16356855 |
| 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 |
| ChiTaRS3.1 | DB496957 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - | ||
| ChiTaRS3.1 | DB506048 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - | ||
| ChiTaRS3.1 | DB499980 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - | ||
| ChiTaRS3.1 | DB492326 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| * 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 | ENST00000379151 | ENST00000263125 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| Frame-shift | ENST00000379151 | ENST00000397176 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| Frame-shift | ENST00000379151 | ENST00000539722 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| Frame-shift | ENST00000361121 | ENST00000263125 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| Frame-shift | ENST00000361121 | ENST00000397176 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| Frame-shift | ENST00000361121 | ENST00000539722 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| intron-3CDS | ENST00000357537 | ENST00000263125 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| intron-3CDS | ENST00000357537 | ENST00000397176 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| intron-3CDS | ENST00000357537 | ENST00000539722 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| intron-3CDS | ENST00000473119 | ENST00000263125 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| intron-3CDS | ENST00000473119 | ENST00000397176 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
| intron-3CDS | ENST00000473119 | ENST00000539722 | GPALPP1 | chr13 | 45563879 | + | PRKCQ | chr10 | 6521128 | - |
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FusionProtFeatures for GPALPP1_PRKCQ |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GPALPP1 | PRKCQ |
| Calcium-independent, phospholipid- and diacylglycerol(DAG)-dependent serine/threonine-protein kinase that mediates non-redundant functions in T-cell receptor (TCR) signaling, includingT-cells activation, proliferation, differentiation and survival,by mediating activation of multiple transcription factors such asNF-kappa-B, JUN, NFATC1 and NFATC2. In TCR-CD3/CD28-co-stimulatedT-cells, is required for the activation of NF-kappa-B and JUN,which in turn are essential for IL2 production, and participatesin the calcium-dependent NFATC1 and NFATC2 transactivation.Mediates the activation of the canonical NF-kappa-B pathway(NFKB1) by direct phosphorylation of CARD11 on several serineresidues, inducing CARD11 association with lipid rafts andrecruitment of the BCL10-MALT1 complex, which then activates IKKcomplex, resulting in nuclear translocation and activation ofNFKB1. May also play an indirect role in activation of the non-canonical NF-kappa-B (NFKB2) pathway. In the signaling pathwayleading to JUN activation, acts by phosphorylating the mediatorSTK39/SPAK and may not act through MAP kinases signaling. Plays acritical role in TCR/CD28-induced NFATC1 and NFATC2transactivation by participating in the regulation of reducedinositol 1,4,5-trisphosphate generation and intracellular calciummobilization. After costimulation of T-cells through CD28 canphosphorylate CBLB and is required for the ubiquitination andsubsequent degradation of CBLB, which is a prerequisite for theactivation of TCR. During T-cells differentiation, plays animportant role in the development of T-helper 2 (Th2) cellsfollowing immune and inflammatory responses, and, in thedevelopment of inflammatory autoimmune diseases, is necessary forthe activation of IL17-producing Th17 cells. May play a minor rolein Th1 response. Upon TCR stimulation, mediates T-cell protectivesurvival signal by phosphorylating BAD, thus protecting T-cellsfrom BAD-induced apoptosis, and by up-regulating BCL-X(L)/BCL2L1levels through NF-kappa-B and JUN pathways. In platelets,regulates signal transduction downstream of the ITGA2B, CD36/GP4,F2R/PAR1 and F2RL3/PAR4 receptors, playing a positive role in'outside-in' signaling and granule secretion signal transduction.May relay signals from the activated ITGA2B receptor by regulatingthe uncoupling of WASP and WIPF1, thereby permitting theregulation of actin filament nucleation and branching activity ofthe Arp2/3 complex. May mediate inhibitory effects of free fattyacids on insulin signaling by phosphorylating IRS1, which in turnblocks IRS1 tyrosine phosphorylation and downstream activation ofthe PI3K/AKT pathway. Phosphorylates MSN (moesin) in the presenceof phosphatidylglycerol or phosphatidylinositol. PhosphorylatesPDPK1 at 'Ser-504' and 'Ser-532' and negatively regulates itsability to phosphorylate PKB/AKT1. {ECO:0000269|PubMed:11342610,ECO:0000269|PubMed:14988727, ECO:0000269|PubMed:15364919,ECO:0000269|PubMed:16252004, ECO:0000269|PubMed:16356855,ECO:0000269|PubMed:16709830, ECO:0000269|PubMed:19549985,ECO:0000269|PubMed:8657160}. |
| 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 GPALPP1_PRKCQ |
| 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 GPALPP1_PRKCQ |
| 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 |
| GPALPP1 | HECW2, PPID, ARL6IP4, SNIP1, CDKL5, HIST1H2BG, EWSR1, XPO1, CTBP2, THOC2, PPIL1, PIP4K2A, ZNF786, C11orf57, ZNF816, ZNF311, CLK2, FUOM, PNN | PRKCQ | VAV1, FYN, LCK, TAL1, IKBKB, YWHAG, AKT1, GLRX3, PDPK1, CHUK, IKBKG, JUND, NFE2L2, PRKCQ, MAP3K7, FYB, CARD11, BCL10, YWHAQ, KCNA5, CBL, SELL, RASGRP3, MALT1, HSP90AA1, PRKCD, DEF6, ALK, C2CD2L, ZNF24 |
| - 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 GPALPP1_PRKCQ |
| 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 GPALPP1_PRKCQ |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PRKCQ | C0003873 | Rheumatoid Arthritis | 3 | CTD_human |
| Tgene | PRKCQ | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human |
| Tgene | PRKCQ | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
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