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Fusion gene ID: 28441 |
FusionGeneSummary for PPP2R3C_NFKBIA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP2R3C_NFKBIA | Fusion gene ID: 28441 | Hgene | Tgene | Gene symbol | PPP2R3C | NFKBIA | Gene ID | 55012 | 4792 |
| Gene name | protein phosphatase 2 regulatory subunit B''gamma | NFKB inhibitor alpha | |
| Synonyms | C14orf10|G4-1|G5pr | IKBA|MAD-3|NFKBI | |
| Cytomap | 14q13.2 | 14q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gammaprotein phosphatase 2 (formerly 2A), regulatory subunit B''protein phosphatase 2, regulatory subunit B'', gammaprotein phosphatase subunit G5PRrhabdomyosarcoma antigen MU-RMS- | NF-kappa-B inhibitor alphaI-kappa-B-alphaIkappaBalphaikB-alphamajor histocompatibility complex enhancer-binding protein MAD3nuclear factor of kappa light chain gene enhancer in B-cellsnuclear factor of kappa light polypeptide gene enhancer in B-cell | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q969Q6 | P25963 | |
| Ensembl transtripts involved in fusion gene | ENST00000261475, ENST00000555644, | ENST00000216797, ENST00000557140, ENST00000557389, ENST00000557100, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 2=18 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PPP2R3C [Title/Abstract] AND NFKBIA [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 | NFKBIA | GO:0007249 | I-kappaB kinase/NF-kappaB signaling | 25038658 |
| Tgene | NFKBIA | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 11931770 |
| Tgene | NFKBIA | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 25038658 |
| Tgene | NFKBIA | GO:0042994 | cytoplasmic sequestering of transcription factor | 1493333 |
| Tgene | NFKBIA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19245366 |
| Tgene | NFKBIA | GO:0050729 | positive regulation of inflammatory response | 25038658 |
| 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 | BRCA | TCGA-A8-A07U-01A | PPP2R3C | chr14 | 35557157 | - | NFKBIA | chr14 | 35871266 | - |
| * 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 | ENST00000261475 | ENST00000216797 | PPP2R3C | chr14 | 35557157 | - | NFKBIA | chr14 | 35871266 | - |
| Frame-shift | ENST00000261475 | ENST00000557140 | PPP2R3C | chr14 | 35557157 | - | NFKBIA | chr14 | 35871266 | - |
| Frame-shift | ENST00000261475 | ENST00000557389 | PPP2R3C | chr14 | 35557157 | - | NFKBIA | chr14 | 35871266 | - |
| 5CDS-intron | ENST00000261475 | ENST00000557100 | PPP2R3C | chr14 | 35557157 | - | NFKBIA | chr14 | 35871266 | - |
| intron-3CDS | ENST00000555644 | ENST00000216797 | PPP2R3C | chr14 | 35557157 | - | NFKBIA | chr14 | 35871266 | - |
| intron-3CDS | ENST00000555644 | ENST00000557140 | PPP2R3C | chr14 | 35557157 | - | NFKBIA | chr14 | 35871266 | - |
| intron-3CDS | ENST00000555644 | ENST00000557389 | PPP2R3C | chr14 | 35557157 | - | NFKBIA | chr14 | 35871266 | - |
| intron-intron | ENST00000555644 | ENST00000557100 | PPP2R3C | chr14 | 35557157 | - | NFKBIA | chr14 | 35871266 | - |
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FusionProtFeatures for PPP2R3C_NFKBIA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP2R3C | NFKBIA |
| Inhibits the activity of dimeric NF-kappa-B/RELcomplexes by trapping REL dimers in the cytoplasm through maskingof their nuclear localization signals. On cellular stimulation byimmune and proinflammatory responses, becomes phosphorylatedpromoting ubiquitination and degradation, enabling the dimericRELA to translocate to the nucleus and activate transcription.{ECO:0000269|PubMed:7479976}. |
| 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 PPP2R3C_NFKBIA |
| 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 PPP2R3C_NFKBIA |
| 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 |
| PPP2R3C | IKBKB, POLR1C, RTN3, CCDC33, CMTM5, PPP2CB, FGFR1OP, HSPB1, CEP128, CEP19, DYNC1H1, ITGB4, MYBL2, PCM1, LGMN, OFD1, KIAA0753, CEP350, CEP131, PPP2R1A, CCDC132, CEP72, DYNC2H1, CCDC77, NCBP2-AS2, MTNR1A | NFKBIA | POM121, SUMO4, COMMD1, NCOR2, PIR, BARD1, RELA, MED19, CHUK, PTPN13, FBXW11, BTRC, TP53, VCP, NFKB1, HNRNPA1, DYNLL1, PIK3R1, IKBKB, RPS6KA1, G3BP2, REL, CAPN1, MAP3K14, IKBKAP, LYL1, HOXB7, UBE2D1, AURKA, RELB, PSMA2, HDAC3, ABL1, NCOR1, HDAC1, HDAC2, HDAC4, HDAC5, RPS3, CUL1, SKP1, SLC25A4, RASA1, CLU, MALT1, BCL10, CSNK1A1, IKBKG, CDC34, CSNK2B, HNRNPU, MAPK14, NFKBIB, TRE17, COPS2, FBXW8, PSMA4, UBE2D3, UBE2D2, UBE2L3, RWDD3, ERC1, PIN1, RPS6KA3, ITPK1, MAP3K1, DNAJA3, SOCS3, ZBTB7A, IKBKE, TBK1, ATF4, ZNF212, IKZF4, ARRB1, ARRB2, PSMA1, STAT1, PRKCA, GPS1, COPS3, POLR2C, CD7, ST7, TNF, UFD1L, NPLOC4, MTOR, NEDD9, UBE2I, MAP3K7, SPECC1L, SPDL1, NFKB2, POLR2A, DCAF6, PPP1R9A, AIDA, POLR2J, NME2P1, ANKRD27, POLRMT, YES1, SRC, SCRN2, CTU2, OGDHL, OTUB1, HIF1AN, TLDC1, PRTFDC1, UBFD1, TBC1D24, RHOA, TCEA1, DENR, BIRC2, TBCE, GNG5, CUEDC1, C6orf211, CHAC2, MAVS, XPO1, CENPF, COL7A1, ATXN3, NFKBIE, AVL9, MED31, ARHGAP39, RNF183, RNF121, AKT1, MCTS1, GNPNAT1, PLS1 |
| - 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 PPP2R3C_NFKBIA |
| 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 |
| Tgene | NFKBIA | P25963 | DB00945 | Acetylsalicylic acid | NF-kappa-B inhibitor alpha | small molecule | approved|vet_approved |
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RelatedDiseases for PPP2R3C_NFKBIA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | NFKBIA | C0007786 | Brain Ischemia | 1 | CTD_human |
| Tgene | NFKBIA | C0019829 | Hodgkin Disease | 1 | CTD_human |
| Tgene | NFKBIA | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | NFKBIA | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Tgene | NFKBIA | C0033860 | Psoriasis | 1 | CTD_human |
| Tgene | NFKBIA | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Tgene | NFKBIA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | NFKBIA | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | NFKBIA | C2677481 | Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant | 1 | CTD_human;UNIPROT |
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