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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 27933

FusionGeneSummary for POLG2_DDX5

check button Fusion gene summary
Fusion gene informationFusion gene name: POLG2_DDX5
Fusion gene ID: 27933
HgeneTgene
Gene symbol

POLG2

DDX5

Gene ID

11232

1655

Gene nameDNA polymerase gamma 2, accessory subunitDEAD-box helicase 5
SynonymsHP55|MTPOLB|PEOA4|POLB|POLG-BETA|POLGBG17P1|HLR1|HUMP68|p68
Cytomap

17q23.3

17q23.3

Type of geneprotein-codingprotein-coding
DescriptionDNA 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 date2018052320180522
UniProtAcc

Q9UHN1

P17844

Ensembl transtripts involved in fusion geneENST00000539111, ENST00000582501, 
ENST00000225792, ENST00000450599, 
ENST00000578804, ENST00000580026, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 5 X 2=50
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneDDX5

GO:0000122

negative regulation of transcription by RNA polymerase II

15298701

TgeneDDX5

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

21343338

TgeneDDX5

GO:0000956

nuclear-transcribed mRNA catabolic process

23788676


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLUSCTCGA-46-6025-01APOLG2chr17

62488784

-DDX5chr17

62496444

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000539111ENST00000225792POLG2chr17

62488784

-DDX5chr17

62496444

-
Frame-shitENST00000539111ENST00000450599POLG2chr17

62488784

-DDX5chr17

62496444

-
Frame-shitENST00000539111ENST00000578804POLG2chr17

62488784

-DDX5chr17

62496444

-
5CDS-5UTRENST00000539111ENST00000580026POLG2chr17

62488784

-DDX5chr17

62496444

-
intron-3CDSENST00000582501ENST00000225792POLG2chr17

62488784

-DDX5chr17

62496444

-
intron-3CDSENST00000582501ENST00000450599POLG2chr17

62488784

-DDX5chr17

62496444

-
intron-3CDSENST00000582501ENST00000578804POLG2chr17

62488784

-DDX5chr17

62496444

-
intron-5UTRENST00000582501ENST00000580026POLG2chr17

62488784

-DDX5chr17

62496444

-

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FusionProtFeatures for POLG2_DDX5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
POLG2

Q9UHN1

DDX5

P17844

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for POLG2_DDX5


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
POLG2PARP1, SEC22C, POLG, RPS3, STXBP1, CCDC6, AP4E1, WRAP53, OSBPL1A, ALDH6A1, ADNP, IFIT2, HOMER3, GLDCDDX5STK24, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for POLG2_DDX5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneDDX5P17844DB11638ArtenimolProbable ATP-dependent RNA helicase DDX5small moleculeapproved|investigational

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RelatedDiseases for POLG2_DDX5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePOLG2C1864668Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 41CTD_human;UNIPROT
TgeneDDX5C0014175Endometriosis1CTD_human