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Fusion gene ID: 27244 |
FusionGeneSummary for PIN1_PPP2R3C |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PIN1_PPP2R3C | Fusion gene ID: 27244 | Hgene | Tgene | Gene symbol | PIN1 | PPP2R3C | Gene ID | 23037 | 55012 |
| Gene name | PDZ domain containing 2 | protein phosphatase 2 regulatory subunit B''gamma | |
| Synonyms | AIPC|PAPIN|PDZK3|PIN1 | C14orf10|G4-1|G5pr | |
| Cytomap | 5p13.3 | 14q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | PDZ domain-containing protein 2PDZ domain-containing protein 3activated in prostate cancer proteinplakophilin-related armadillo repeat protein-interactive PDZ protein | 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- | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q13526 | Q969Q6 | |
| Ensembl transtripts involved in fusion gene | ENST00000587625, ENST00000247970, ENST00000588695, ENST00000380889, | ENST00000261475, ENST00000555644, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 2 X 4=32 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PIN1 [Title/Abstract] AND PPP2R3C [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 |
| 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 | ACC | TCGA-OR-A5KV-01A | PIN1 | chr19 | 9960365 | + | PPP2R3C | chr14 | 35585943 | - |
| * 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-3CDS | ENST00000587625 | ENST00000261475 | PIN1 | chr19 | 9960365 | + | PPP2R3C | chr14 | 35585943 | - |
| intron-3CDS | ENST00000587625 | ENST00000555644 | PIN1 | chr19 | 9960365 | + | PPP2R3C | chr14 | 35585943 | - |
| intron-3CDS | ENST00000247970 | ENST00000261475 | PIN1 | chr19 | 9960365 | + | PPP2R3C | chr14 | 35585943 | - |
| intron-3CDS | ENST00000247970 | ENST00000555644 | PIN1 | chr19 | 9960365 | + | PPP2R3C | chr14 | 35585943 | - |
| intron-3CDS | ENST00000588695 | ENST00000261475 | PIN1 | chr19 | 9960365 | + | PPP2R3C | chr14 | 35585943 | - |
| intron-3CDS | ENST00000588695 | ENST00000555644 | PIN1 | chr19 | 9960365 | + | PPP2R3C | chr14 | 35585943 | - |
| intron-3CDS | ENST00000380889 | ENST00000261475 | PIN1 | chr19 | 9960365 | + | PPP2R3C | chr14 | 35585943 | - |
| intron-3CDS | ENST00000380889 | ENST00000555644 | PIN1 | chr19 | 9960365 | + | PPP2R3C | chr14 | 35585943 | - |
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FusionProtFeatures for PIN1_PPP2R3C |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIN1 | PPP2R3C |
| Peptidyl-prolyl cis/trans isomerase (PPIase) that bindsto and isomerizes specific phosphorylated Ser/Thr-Pro (pSer/Thr-Pro) motifs. By inducing conformational changes in a subset ofphosphorylated proteins, acts as a molecular switch in multiplecellular processes (PubMed:21497122, PubMed:22033920, Ref. 21).Displays a preference for acidic residues located N-terminally tothe proline bond to be isomerized. Regulates mitosis presumably byinteracting with NIMA and attenuating its mitosis-promotingactivity. Down-regulates kinase activity of BTK (PubMed:16644721).Can transactivate multiple oncogenes and induce centrosomeamplification, chromosome instability and cell transformation.Required for the efficient dephosphorylation and recycling of RAF1after mitogen activation (PubMed:15664191). Binds and targets PMLand BCL6 for degradation in a phosphorylation-dependent manner(PubMed:17828269). Acts as a regulator of JNK cascade by bindingto phosphorylated FBXW7, disrupting FBXW7 dimerization andpromoting FBXW7 autoubiquitination and degradation: degradation ofFBXW7 leads to subsequent stabilization of JUN (PubMed:22608923).May facilitate the ubiquitination and proteasomal degradation ofRBBP8/CtIP through CUL3/KLHL15 E3 ubiquitin-protein ligasecomplex, hence favors DNA double-strand repair through error-pronenon-homologous end joining (NHEJ) over error-free, RBBP8-mediatedhomologous recombination (HR) (PubMed:23623683, PubMed:27561354).{ECO:0000269|PubMed:15664191, ECO:0000269|PubMed:16644721,ECO:0000269|PubMed:17828269, ECO:0000269|PubMed:21497122,ECO:0000269|PubMed:22033920, ECO:0000269|PubMed:22608923,ECO:0000269|PubMed:23623683, ECO:0000269|PubMed:27561354}. |
| 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 PIN1_PPP2R3C |
| 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 PIN1_PPP2R3C |
| 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 |
| PIN1 | TRAF2, TSC22D4, RAI1, GGA2, ZMIZ2, MDFI, HNRNPC, RBPMS, RBBP8, NONO, VHL, CTNNB1, DAB2, CSNK2A1, CSNK2A2, TOP2A, KLHL20, GPAA1, PTOV1, ZCCHC10, DDX24, LEPR, SOCS3, WEE1, PLK1, CDC27, PKMYT1, CDC25C, JUN, TP53, NFATC2, MAPT, BCL2, RAB4A, KIF20B, SUPT5H, POLR2A, MYT1, SMAD2, SMAD3, FOXO4, MCL1, RARA, ADARB1, AXIN1, MYC, CDKN1B, DEAF1, TSC2, CASP6, COL11A2, KIF5A, CENPB, CSAD, ATP5B, CPNE6, PKM, CCDC90B, DYNC1I1, EIF3G, UNC119, DDAH2, APLP1, CARHSP1, QARS, WIZ, KMT2B, TRMT2A, BAG6, LRIF1, DMPK, CDK10, PIM1, CCNE1, CDK2, NCOA3, EP300, FBXW7, RUNX3, HDAC3, BCL6, DAXX, RELA, NFKBIA, AATF, ERBB2, IRF3, PML, TP73, UBQLN4, SNCA, SNCAIP, NDUFA7, UBE2A, PPP2CA, YAP1, ATP6V1B2, ITGA4, RAF1, MOCS1, PKIB, SHKBP1, MAP3K11, TNIP1, BCLAF1, CCNK, CDK12, ETV6, MED1, THRAP3, TLE3, DDX17, DDX3X, DDX5, DHX15, KIAA1429, TUT1, G3BP2, G3BP1, HNRNPH1, HNRNPK, HNRNPU, EFTUD2, PABPC1, PRPF8, RNPS1, SFPQ, SRSF11, SRRM1, SRRM2, U2AF2, SNRNP200, RPL4, DDB1, WRNIP1, CDK11B, CDK11A, XRCC6, MAP1S, AP2A1, REPS1, CHAMP1, PRRC1, CAPRIN1, TBC1D4, TFG, HADHA, CBS, DAB1, GOLGA2, KRT31, MEOX2, NAB2, TCF4, TRAF1, TRIP6, ZBTB14, KRT38, PNMA1, ZBTB22, JAKMIP2, ABI2, CNKSR1, IKZF1, IKZF3, ARHGEF15, MTUS2, NUP62, SSBP3, ZBTB7B, ADAMTSL4, CEP55, ZNF446, HOMEZ, CEP76, CCDC33, THAP7, KRTAP4-2, ANKRD40, FOXP2, HEXIM2, KRT40, AMOT, SPERT, ZBTB9, TAB3, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-3, CCDC184, SP1, PPARG, CUL7, FKBP1A, FKBP1B, HINT1, MSI2, NME1-NME2, PCBP2, CFL1, DAZAP1, FABP5, GPX4, HDAC1, HSPE1, SNX12, SNX3, SPR, TAGLN2, TAGLN3, PPIA, SOD1, TBCA, TJP1, KRAS, CEP19, SSBP4, SSBP2, SGK1, CPEB1, OTUB1, REST, DUSP6, SNRNP27, PIP4K2A, SYAP1, CYP1A1, ATCAY, FADD, UHRF2, NUP98 | 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 |
| - 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 PIN1_PPP2R3C |
| 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 PIN1_PPP2R3C |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PIN1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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