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Fusion gene ID: 28543 |
FusionGeneSummary for PPP6R3_POLD3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP6R3_POLD3 | Fusion gene ID: 28543 | Hgene | Tgene | Gene symbol | PPP6R3 | POLD3 | Gene ID | 55291 | 10714 |
| Gene name | protein phosphatase 6 regulatory subunit 3 | DNA polymerase delta 3, accessory subunit | |
| Synonyms | C11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3 | P66|P68|PPP1R128 | |
| Cytomap | 11q13.2 | 11q13.4 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein phosphatase 6 regulatory subunit 3SAPS domain family, member 3sporulation-induced transcript 4-associated protein SAPL | DNA polymerase delta subunit 3DNA polymerase delta subunit CDNA polymerase delta subunit p66DNA polymerase delta subunit p68Pol delta C subunit (p66)polymerase (DNA) delta 3, accessory subunitpolymerase (DNA-directed), delta 3, accessory subunitpro | |
| Modification date | 20180520 | 20180524 | |
| UniProtAcc | Q5H9R7 | Q15054 | |
| Ensembl transtripts involved in fusion gene | ENST00000393799, ENST00000530427, ENST00000393800, ENST00000534534, ENST00000524845, ENST00000265637, ENST00000524904, ENST00000393801, ENST00000265636, ENST00000529710, ENST00000527403, | ENST00000263681, ENST00000527458, ENST00000532497, ENST00000532784, | |
| Fusion gene scores | * DoF score | 18 X 11 X 10=1980 | 4 X 4 X 3=48 |
| # samples | 28 | 6 | |
| ** MAII score | log2(28/1980*10)=-2.82200169802201 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PPP6R3 [Title/Abstract] AND POLD3 [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 |
| Hgene | PPP6R3 | GO:0043666 | regulation of phosphoprotein phosphatase activity | 16716191 |
| 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-A1-A0SQ-01A | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| * 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 |
| 5UTR-3CDS | ENST00000393799 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000393799 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000393799 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3UTR | ENST00000393799 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 3UTR-3CDS | ENST00000530427 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 3UTR-5UTR | ENST00000530427 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 3UTR-5UTR | ENST00000530427 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 3UTR-3UTR | ENST00000530427 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3CDS | ENST00000393800 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000393800 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000393800 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3UTR | ENST00000393800 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3CDS | ENST00000534534 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000534534 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000534534 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3UTR | ENST00000534534 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3CDS | ENST00000524845 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000524845 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000524845 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3UTR | ENST00000524845 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3CDS | ENST00000265637 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000265637 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000265637 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3UTR | ENST00000265637 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3CDS | ENST00000524904 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000524904 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000524904 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3UTR | ENST00000524904 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3CDS | ENST00000393801 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000393801 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000393801 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3UTR | ENST00000393801 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3CDS | ENST00000265636 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000265636 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000265636 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3UTR | ENST00000265636 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3CDS | ENST00000529710 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000529710 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-5UTR | ENST00000529710 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| 5UTR-3UTR | ENST00000529710 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| intron-3CDS | ENST00000527403 | ENST00000263681 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| intron-5UTR | ENST00000527403 | ENST00000527458 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| intron-5UTR | ENST00000527403 | ENST00000532497 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
| intron-3UTR | ENST00000527403 | ENST00000532784 | PPP6R3 | chr11 | 68228295 | + | POLD3 | chr11 | 74305106 | + |
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FusionProtFeatures for PPP6R3_POLD3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP6R3 | POLD3 |
| As a component of the trimeric and tetrameric DNApolymerase delta complexes (Pol-delta3 and Pol-delta4,respectively), plays a role in high fidelity genome replication,including in lagging strand synthesis, and repair. Required foroptimal Pol-delta activity. Stabilizes the Pol-delta complex andplays a major role in Pol-delta stimulation by PCNA(PubMed:10219083, PubMed:10852724, PubMed:11595739,PubMed:16510448, PubMed:24035200). Pol-delta3 and Pol-delta4 arecharacterized by the absence or the presence of POLD4. Theyexhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4(PubMed:19074196, PubMed:20334433). Although both Pol-delta3 andPol-delta4 process Okazaki fragments in vitro, Pol-delta3 may alsobe better suited to fulfill this task, exhibiting near-absence ofstrand displacement activity compared to Pol-delta4 and stallingon encounter with the 5'-blocking oligonucleotides. Pol-delta3idling process may avoid the formation of a gap, while maintaininga nick that can be readily ligated (PubMed:24035200). Along withDNA polymerase kappa, DNA polymerase delta carries outapproximately half of nucleotide excision repair (NER) synthesisfollowing UV irradiation. In this context, POLD3, along with PCNAand RFC1-replication factor C complex, is required to recruitPOLD1, the catalytic subunit of the polymerase delta complex, toDNA damage sites (PubMed:20227374). Under conditions of DNAreplication stress, required for the repair of broken replicationforks through break-induced replication (BIR) (PubMed:24310611).Involved in the translesion synthesis (TLS) of templates carryingO6-methylguanine or abasic sites performed by Pol-delta4,independently of DNA polymerase zeta (REV3L) or eta (POLH).Facilitates abasic site bypass by DNA polymerase delta bypromoting extension from the nucleotide inserted opposite thelesion (PubMed:19074196, PubMed:25628356, PubMed:27185888). Alsoinvolved in TLS, as a component of the POLZ complex. Along withPOLD2, dramatically increases the efficiency and processivity ofDNA synthesis of the minimal DNA polymerase zeta complex,consisting of only REV3L and REV7 (PubMed:24449906).{ECO:0000269|PubMed:10219083, ECO:0000269|PubMed:10852724,ECO:0000269|PubMed:11595739, ECO:0000269|PubMed:16510448,ECO:0000269|PubMed:19074196, ECO:0000269|PubMed:20227374,ECO:0000269|PubMed:20334433, ECO:0000269|PubMed:24035200,ECO:0000269|PubMed:24310611, ECO:0000269|PubMed:24449906,ECO:0000269|PubMed:25628356, ECO:0000269|PubMed:27185888}. |
| 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 PPP6R3_POLD3 |
| 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 PPP6R3_POLD3 |
| 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 |
| PPP6R3 | KDM6A, TNFAIP3, USP21, USP36, USP49, PPP6C, PRKDC, HDAC1, HDAC2, ELAVL1, SIRT7, TERF2IP, TINF2, TFAP4, GRK5, PFAS, BRCA1, ECT2, NOTCH1, LATS1, GPSM1, HDAC11, USP10, ANKRD28, MOB1A, MOB1B, ACAD11, ANKRD44, ANKRD52, AP1B1, AP2A1, AP2A2, AURKA, DNAJC11, ECH1, ERLIN2, PPP6R1, PPP6R2, CDC37, ENAH, ETFA, HSP90AA1, HSP90AB1, RUVBL2, SRRT, TPM1, USP7, CSNK1E, SNAI2, RNF2, GPHA2, RPS6KB2, UNK, DIEXF, NSUN5, EIF4A3, TIPRL, NTRK1, CEP44, CEP19, XPO1, ZNRF2, ZNF746, TRMT2A, TRIM25, TES | POLD3 | PCNA, POLD2, MBD3L2, POLD1, NR2C1, DNMT1, MTA1, HDAC1, CHD4, RBBP4, SPRTN, APP, POLA1, MCM3, POLD4, TSEN2, USP8, DCP2, REV1, MAD2L2, SIRT6, TP53, XPO1, AHSA1, FAF2 |
| - 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 PPP6R3_POLD3 |
| 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 PPP6R3_POLD3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | POLD3 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
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