|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 27991 |
FusionGeneSummary for POLR3A_TP53BP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POLR3A_TP53BP2 | Fusion gene ID: 27991 | Hgene | Tgene | Gene symbol | POLR3A | TP53BP2 | Gene ID | 11128 | 7159 |
| Gene name | RNA polymerase III subunit A | tumor protein p53 binding protein 2 | |
| Synonyms | ADDH|HLD7|RPC1|RPC155|hRPC155 | 53BP2|ASPP2|BBP|P53BP2|PPP1R13A | |
| Cytomap | 10q22.3 | 1q41 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA-directed RNA polymerase III subunit RPC1DNA-directed RNA polymerase III largest subunitDNA-directed RNA polymerase III subunit ARNA polymerase III 155 kDa subunitRNA polymerase III subunit C1RNA polymerase III subunit C160RNA polymerase III subu | apoptosis-stimulating of p53 protein 2BCL2-binding proteinapoptosis-stimulating protein of p53, 2renal carcinoma antigen NY-REN-51tumor suppressor p53-binding protein 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O14802 | Q13625 | |
| Ensembl transtripts involved in fusion gene | ENST00000372371, ENST00000484760, | ENST00000391878, ENST00000343537, ENST00000391879, ENST00000498843, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: POLR3A [Title/Abstract] AND TP53BP2 [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 | TP53BP2 | GO:0072332 | intrinsic apoptotic signaling pathway by p53 class mediator | 11684014 |
| 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-AN-A0AJ-01A | POLR3A | chr10 | 79773408 | - | TP53BP2 | chr1 | 224009069 | - |
| * 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 |
| 5CDS-5UTR | ENST00000372371 | ENST00000391878 | POLR3A | chr10 | 79773408 | - | TP53BP2 | chr1 | 224009069 | - |
| 5CDS-5UTR | ENST00000372371 | ENST00000343537 | POLR3A | chr10 | 79773408 | - | TP53BP2 | chr1 | 224009069 | - |
| 5CDS-intron | ENST00000372371 | ENST00000391879 | POLR3A | chr10 | 79773408 | - | TP53BP2 | chr1 | 224009069 | - |
| 5CDS-intron | ENST00000372371 | ENST00000498843 | POLR3A | chr10 | 79773408 | - | TP53BP2 | chr1 | 224009069 | - |
| intron-5UTR | ENST00000484760 | ENST00000391878 | POLR3A | chr10 | 79773408 | - | TP53BP2 | chr1 | 224009069 | - |
| intron-5UTR | ENST00000484760 | ENST00000343537 | POLR3A | chr10 | 79773408 | - | TP53BP2 | chr1 | 224009069 | - |
| intron-intron | ENST00000484760 | ENST00000391879 | POLR3A | chr10 | 79773408 | - | TP53BP2 | chr1 | 224009069 | - |
| intron-intron | ENST00000484760 | ENST00000498843 | POLR3A | chr10 | 79773408 | - | TP53BP2 | chr1 | 224009069 | - |
Top |
FusionProtFeatures for POLR3A_TP53BP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POLR3A | TP53BP2 |
| DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Largest and catalytic core component of RNA polymeraseIII which synthesizes small RNAs, such as 5S rRNA and tRNAs. Formsthe polymerase active center together with the second largestsubunit. A single-stranded DNA template strand of the promoter ispositioned within the central active site cleft of Pol III. Abridging helix emanates from RPC1 and crosses the cleft near thecatalytic site and is thought to promote translocation of Pol IIIby acting as a ratchet that moves the RNA-DNA hybrid through theactive site by switching from straight to bent conformations ateach step of nucleotide addition (By similarity). Plays a key rolein sensing and limiting infection by intracellular bacteria andDNA viruses. Acts as nuclear and cytosolic DNA sensor involved ininnate immune response. Can sense non-self dsDNA that serves astemplate for transcription into dsRNA. The non-self RNA polymeraseIII transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs)induce type I interferon and NF- Kappa-B through the RIG-Ipathway. {ECO:0000250, ECO:0000269|PubMed:19609254,ECO:0000269|PubMed:19631370}. | Regulator that plays a central role in regulation ofapoptosis and cell growth via its interactions. Regulates TP53 byenhancing the DNA binding and transactivation function of TP53 onthe promoters of proapoptotic genes in vivo. Inhibits the abilityof APPBP1 to conjugate NEDD8 to CUL1, and thereby decreases APPBP1ability to induce apoptosis. Impedes cell cycle progression atG2/M. Its apoptosis-stimulating activity is inhibited by itsinteraction with DDX42. {ECO:0000269|PubMed:11684014,ECO:0000269|PubMed:12694406, ECO:0000269|PubMed:19377511}. |
| 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 |
Top |
FusionGeneSequence for POLR3A_TP53BP2 |
| 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). |
Top |
FusionGenePPI for POLR3A_TP53BP2 |
| 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 |
| POLR3A | PKP2, GTF2B, POLR3D, POLR3E, RAE1, GPN1, RPAP2, RPAP3, POLR3H, RPAP1, EWSR1, PCBD1, IKBKG, POLR2H, POLR2E, POLR3B, POLR1C, CRCP, POLR1D, POLR3C, POLR1A, SMARCA5, VPS18, NEDD4, ASB13, MAF1, GPN3, PIH1D1, PPP1CC, PPP1CA, SKAP1, PPP2R2C, EVA1C, GTF3C3, HDAC1, HDAC2, IPO9, MRPL17, MRPL22, MRPL24, MRPL54, MRPS7, POLR1B, POLR2A, MRPL11, MRPL2, POLR2B, LOC101060521, POLR3F, POLR3G, POLR3K, RPS5, SMARCA4, TSR1, TUFM, NTRK1, POLR2F, POLR3GL, UXT, ASB7, RUVBL1, CDH5, RUVBL2, ZNHIT2, SLC7A6OS, URI1, WDR92 | TP53BP2 | BCL2, USP4, MRPL20, EEF1A1, KIF5A, PTN, UTP14A, UNC119, YAP1, TP53, BECN1, MAPK8IP2, CSNK2B, BCL2L1, PLK1, PPHLN1, PPP1CA, WWTR1, NAE1, ATXN7, PPP1CC, YWHAE, SIAH2, SIAH1, YWHAQ, AMOT, AMOTL2, LATS2, YWHAB, PRKAB2, GRB2, POLR2L, PPP1CB, ZNF26, TCL1A, HIST1H2BC, LMO4, TRAF4, TANK, NDC80, BAIAP2, NXF1, HNRNPUL1, PRPF31, UBASH3A, DCUN1D1, TBC1D22B, MTMR14, OTUB2, CCDC92, PLEKHN1, ZGPAT, ATPAF2, SSX2IP, CWF19L2, TXLNA, NUTM1, EP300, FRMD6, CCDC101, SRGAP3, HOMER1, RASSF8, RASSF7, ANXA1, CCDC85B, CCDC85C, CPVL, HSPH1, HSPA4, PPP1R2, PARD3, RASSF9, PPP1R3A, RASSF10, ITCH, STAM2, MED4, OFD1, PCM1, CEP97, CEP104, CEP162, CEP120, CEP152, CNTROB, CEP128, CEP135, CEP44, CEP89, CNTRL, FBF1, NINL, NIN, ODF2, RPGRIP1L, SCLT1, DYNLT1, RPGRIP1, CENPJ, YWHAH, YWHAZ, PARD6A, PARD6B, CDH1, PRPF19, P4HA3, APC2, PPP1R7 |
| - 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 |
Top |
RelatedDrugs for POLR3A_TP53BP2 |
| 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 |
Top |
RelatedDiseases for POLR3A_TP53BP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | POLR3A | C2676243 | Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | 4 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|