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Fusion gene ID: 27933 |
FusionGeneSummary for POLG2_DDX5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POLG2_DDX5 | Fusion gene ID: 27933 | Hgene | Tgene | Gene symbol | POLG2 | DDX5 | Gene ID | 11232 | 1655 |
| Gene name | DNA polymerase gamma 2, accessory subunit | DEAD-box helicase 5 | |
| Synonyms | HP55|MTPOLB|PEOA4|POLB|POLG-BETA|POLGB | G17P1|HLR1|HUMP68|p68 | |
| Cytomap | 17q23.3 | 17q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA polymerase subunit gamma-2, mitochondrialDNA polymerase gamma accessory 55 kDa subunitmitochondrial DNA polymerase subunit gamma-2mitochondrial DNA polymerase, accessory subunitp55polymerase (DNA directed), gamma 2, accessory subunitpolymerase ( | probable ATP-dependent RNA helicase DDX5ATP-dependent RNA helicase DDX5DEAD (Asp-Glu-Ala-Asp) box helicase 5DEAD (Asp-Glu-Ala-Asp) box polypeptide 5DEAD box protein 5DEAD box-5DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)RNA h | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9UHN1 | P17844 | |
| Ensembl transtripts involved in fusion gene | ENST00000539111, ENST00000582501, | ENST00000225792, ENST00000450599, ENST00000578804, ENST00000580026, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 5 X 5 X 2=50 |
| # samples | 2 | 5 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(5/50*10)=0 | |
| Context | PubMed: POLG2 [Title/Abstract] AND DDX5 [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 | DDX5 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15298701 |
| Tgene | DDX5 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 21343338 |
| Tgene | DDX5 | GO:0000956 | nuclear-transcribed mRNA catabolic process | 23788676 |
| 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 | LUSC | TCGA-46-6025-01A | POLG2 | chr17 | 62488784 | - | DDX5 | chr17 | 62496444 | - |
| * 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 | ENST00000539111 | ENST00000225792 | POLG2 | chr17 | 62488784 | - | DDX5 | chr17 | 62496444 | - |
| Frame-shift | ENST00000539111 | ENST00000450599 | POLG2 | chr17 | 62488784 | - | DDX5 | chr17 | 62496444 | - |
| Frame-shift | ENST00000539111 | ENST00000578804 | POLG2 | chr17 | 62488784 | - | DDX5 | chr17 | 62496444 | - |
| 5CDS-5UTR | ENST00000539111 | ENST00000580026 | POLG2 | chr17 | 62488784 | - | DDX5 | chr17 | 62496444 | - |
| intron-3CDS | ENST00000582501 | ENST00000225792 | POLG2 | chr17 | 62488784 | - | DDX5 | chr17 | 62496444 | - |
| intron-3CDS | ENST00000582501 | ENST00000450599 | POLG2 | chr17 | 62488784 | - | DDX5 | chr17 | 62496444 | - |
| intron-3CDS | ENST00000582501 | ENST00000578804 | POLG2 | chr17 | 62488784 | - | DDX5 | chr17 | 62496444 | - |
| intron-5UTR | ENST00000582501 | ENST00000580026 | POLG2 | chr17 | 62488784 | - | DDX5 | chr17 | 62496444 | - |
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FusionProtFeatures for POLG2_DDX5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POLG2 | DDX5 |
| Mitochondrial polymerase processivity subunit.Stimulates the polymerase and exonuclease activities, andincreases the processivity of the enzyme. Binds to ss-DNA. | Involved in the alternative regulation of pre-mRNAsplicing; its RNA helicase activity is necessary for increasingtau exon 10 inclusion and occurs in a RBM4-dependent manner. Bindsto the tau pre-mRNA in the stem-loop region downstream of exon 10.The rate of ATP hydrolysis is highly stimulated by single-strandedRNA. Involved in transcriptional regulation; the function isindependent of the RNA helicase activity. Transcriptionalcoactivator for androgen receptor AR but probably not ESR1.Synergizes with DDX17 and SRA1 RNA to activate MYOD1transcriptional activity and involved in skeletal muscledifferentiation. Transcriptional coactivator for p53/TP53 andinvolved in p53/TP53 transcriptional response to DNA damage andp53/TP53-dependent apoptosis. Transcriptional coactivator forRUNX2 and involved in regulation of osteoblast differentiation.Acts as transcriptional repressor in a promoter-specific manner;the function probably involves association with histonedeacetylases, such as HDAC1. As component of a large PER complexis involved in the inhibition of 3' transcriptional termination ofcircadian target genes such as PER1 and NR1D1 and the control ofthe circadian rhythms. {ECO:0000269|PubMed:12527917,ECO:0000269|PubMed:15298701, ECO:0000269|PubMed:15660129,ECO:0000269|PubMed:17011493, ECO:0000269|PubMed:17960593,ECO:0000269|PubMed:18829551, ECO:0000269|PubMed:19718048,ECO:0000269|PubMed:21343338}. |
| 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 POLG2_DDX5 |
| 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 POLG2_DDX5 |
| 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 |
| POLG2 | PARP1, SEC22C, POLG, RPS3, STXBP1, CCDC6, AP4E1, WRAP53, OSBPL1A, ALDH6A1, ADNP, IFIT2, HOMER3, GLDC | DDX5 | STK24, HDAC1, CREBBP, EP300, AKAP8, FBL, OTUB1, MEPCE, CDK9, HNRNPA1, HNRNPH1, KHDRBS2, IPO11, TCEA1, AIRE, MYOD1, SMARCA4, TBP, POLR2A, MGMT, SRRM1, SRRM2, PIAS1, MBD3, CHD3, ESR1, TADA2A, SMN1, CD4, DGCR8, ZWINT, CALM1, PIK3CA, PSMA3, TNNT1, VHL, SMARCAD1, YY1, NDRG1, HDGF, CENPA, MBNL1, SF3A2, ARRB2, ERG, NFX1, CUL3, CUL4A, CUL4B, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, DDX5, DDX17, HDAC2, HDAC3, INPPL1, SHC1, CRK, AKT1, DHX15, SRSF1, SF3B3, U2AF2, DHX38, SNRPA1, EIF4A3, PRKDC, SF3A1, HNRNPM, HNRNPF, SNRPD1, RBMX, SYNCRIP, U2AF1, SART1, PRPF40A, IGF2BP3, SNW1, PRPF19, SNRPD2, VTN, MCM7, SYN1, RPS20, XRCC4, RPS16, HNRNPA0, EEF2, PRSS1, THRAP3, GOLIM4, EPRS, RPL19, SRP14, SMURF1, FN1, VCAM1, RBM10, WBP11, HNRNPK, DHX9, RBM4, HNRNPH2, HNRNPH3, KHDRBS1, RBFOX2, IL7R, MAP1LC3A, ITGA4, CTNNB1, CD81, IGSF8, FBXW4, FBXO46, SP1, MAPK10, FBXO6, TARDBP, PARK2, PIN1, DBNL, ERO1L, FKBP10, LRSAM1, PABPC4, PRPSAP1, WDR4, RPA1, RPA2, RPA3, STAU1, MDM2, SPRTN, AURKA, AURKB, CEP250, TP53, TUBGCP3, FUS, MAPKAPK2, DROSHA, NXF1, CUL7, OBSL1, CCDC8, UBE2I, EZH2, SUZ12, EED, RNF2, SMAD3, ABL1, ARAF, CDK2, DAPK1, ILK, MAST3, SGK2, SRPK1, TNK1, TYK2, LUZP4, RPS6KB2, UNK, NTRK1, ATXN2, ATXN2L, C14orf166, CPSF6, DDX18, DNAJC2, ELAC2, GTPBP4, HNRNPR, IMPDH1, SBDS, SKIV2L2, TRMT6, DHX36, EDC4, EIF2A, GMPS, LUC7L2, NACA, UPF1, SFN, SCARNA22, FRS3, XPO1, HNRNPU, RPL10, MATR3, SKI, MCM2, MCM5, CDC5L, CDC37, CRBN, CBX7, RYBP, WWP2, DERL1, EGFR, YPEL5, RMND5A, MAEA, RANBP9, ARMC8, NR2E1, CYLD, CD2BP2, INO80B, TRIM25, HOTAIR, HEY1, BRCA1, LMNA, MTF1 |
| - 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 POLG2_DDX5 |
| 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 | DDX5 | P17844 | DB11638 | Artenimol | Probable ATP-dependent RNA helicase DDX5 | small molecule | approved|investigational |
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RelatedDiseases for POLG2_DDX5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | POLG2 | C1864668 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 | 1 | CTD_human;UNIPROT |
| Tgene | DDX5 | C0014175 | Endometriosis | 1 | CTD_human |
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