![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 27244 |
FusionGeneSummary for PIN1_PPP2R3C |
![]() |
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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 |
![]() * 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 | - |
Top |
FusionProtFeatures for PIN1_PPP2R3C |
![]() |
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}. |
![]() * 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 |
Top |
FusionGeneSequence for PIN1_PPP2R3C |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for PIN1_PPP2R3C |
![]() |
![]() |
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 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for PIN1_PPP2R3C |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PIN1_PPP2R3C |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PIN1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |