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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: 27935

FusionGeneSummary for POLG_POLG

check button Fusion gene summary
Fusion gene informationFusion gene name: POLG_POLG
Fusion gene ID: 27935
HgeneTgene
Gene symbol

POLG

POLG

Gene ID

5428

5428

Gene nameDNA polymerase gamma, catalytic subunitDNA polymerase gamma, catalytic subunit
SynonymsMDP1|MIRAS|MTDPS4A|MTDPS4B|PEO|POLG1|POLGA|SANDO|SCAEMDP1|MIRAS|MTDPS4A|MTDPS4B|PEO|POLG1|POLGA|SANDO|SCAE
Cytomap

15q26.1

15q26.1

Type of geneprotein-codingprotein-coding
DescriptionDNA polymerase subunit gamma-1PolG-alphamitochondrial DNA polymerase catalytic subunitpolymerase (DNA directed), gammapolymerase (DNA) gamma, catalytic subunittruncated mitochondrial DNA polymerase gamma catalytic subunitDNA polymerase subunit gamma-1PolG-alphamitochondrial DNA polymerase catalytic subunitpolymerase (DNA directed), gammapolymerase (DNA) gamma, catalytic subunittruncated mitochondrial DNA polymerase gamma catalytic subunit
Modification date2018052320180523
UniProtAcc

P54098

P54098

Ensembl transtripts involved in fusion geneENST00000268124, ENST00000442287, 
ENST00000525806, 
ENST00000268124, 
ENST00000442287, ENST00000525806, 
Fusion gene scores* DoF score2 X 3 X 2=121 X 2 X 1=2
# samples 32
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/2*10)=3.32192809488736
Context

PubMed: POLG [Title/Abstract] AND POLG [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
HgenePOLG

GO:0006287

base-excision repair, gap-filling

15177179

TgenePOLG

GO:0006287

base-excision repair, gap-filling

15177179


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
ChiTaRS3.1BQ306477POLGchr15

89866046

+POLGchr15

89865083

-
ChiTaRS3.1AW277008POLGchr15

89868223

+POLGchr15

89867728

+
* 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
intron-3CDSENST00000268124ENST00000268124POLGchr15

89866046

+POLGchr15

89865083

-
intron-3CDSENST00000268124ENST00000442287POLGchr15

89866046

+POLGchr15

89865083

-
intron-intronENST00000268124ENST00000525806POLGchr15

89866046

+POLGchr15

89865083

-
intron-3CDSENST00000442287ENST00000268124POLGchr15

89866046

+POLGchr15

89865083

-
intron-3CDSENST00000442287ENST00000442287POLGchr15

89866046

+POLGchr15

89865083

-
intron-intronENST00000442287ENST00000525806POLGchr15

89866046

+POLGchr15

89865083

-
intron-3CDSENST00000525806ENST00000268124POLGchr15

89866046

+POLGchr15

89865083

-
intron-3CDSENST00000525806ENST00000442287POLGchr15

89866046

+POLGchr15

89865083

-
intron-intronENST00000525806ENST00000525806POLGchr15

89866046

+POLGchr15

89865083

-
intron-intronENST00000268124ENST00000268124POLGchr15

89868223

+POLGchr15

89867728

+
intron-intronENST00000268124ENST00000442287POLGchr15

89868223

+POLGchr15

89867728

+
intron-intronENST00000268124ENST00000525806POLGchr15

89868223

+POLGchr15

89867728

+
intron-intronENST00000442287ENST00000268124POLGchr15

89868223

+POLGchr15

89867728

+
intron-intronENST00000442287ENST00000442287POLGchr15

89868223

+POLGchr15

89867728

+
intron-intronENST00000442287ENST00000525806POLGchr15

89868223

+POLGchr15

89867728

+
intron-intronENST00000525806ENST00000268124POLGchr15

89868223

+POLGchr15

89867728

+
intron-intronENST00000525806ENST00000442287POLGchr15

89868223

+POLGchr15

89867728

+
intron-intronENST00000525806ENST00000525806POLGchr15

89868223

+POLGchr15

89867728

+

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FusionProtFeatures for POLG_POLG


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

P54098

POLG

P54098

Involved in the replication of mitochondrial DNA.Associates with mitochondrial DNA. Involved in the replication of mitochondrial DNA.Associates with mitochondrial DNA.

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 POLG_POLG


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 POLG_POLG


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
POLGMRPL4, OXLD1, POLG2, NFATC2, NIT1, MGME1, BPNT1, OTC, NDUFS7, ACSM5, YBEY, SDHB, TSPYL6, GATCPOLGMRPL4, OXLD1, POLG2, NFATC2, NIT1, MGME1, BPNT1, OTC, NDUFS7, ACSM5, YBEY, SDHB, TSPYL6, GATC


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 POLG_POLG


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for POLG_POLG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePOLGC4225153PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 125UNIPROT
HgenePOLGC1843851Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis14CTD_human;ORPHANET;UNIPROT
HgenePOLGC1834846Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 18CTD_human;ORPHANET;UNIPROT
HgenePOLGC0205710Alpers Syndrome (disorder)4CTD_human;ORPHANET;UNIPROT
HgenePOLGC0007795Diffuse Cerebral Sclerosis of Schilder3CTD_human
HgenePOLGC0005586Bipolar Disorder2PSYGENET
HgenePOLGC0036572Seizures2CTD_human;HPO
HgenePOLGC4277682Chemical and Drug Induced Liver Injury2CTD_human
HgenePOLGC0014544Epilepsy1CTD_human;HPO
HgenePOLGC0021364Male infertility1CTD_human
HgenePOLGC0023264Leigh Disease1UNIPROT
HgenePOLGC0162674Chronic progressive external ophthalmoplegia1CTD_human;HPO
HgenePOLGC0242422Parkinsonian Disorders1CTD_human;HPO
HgenePOLGC0525045Mood Disorders1PSYGENET
HgenePOLGC0751651Mitochondrial Diseases1CTD_human
HgenePOLGC3150914MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)1CTD_human;ORPHANET;UNIPROT
TgenePOLGC4225153PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 125UNIPROT
TgenePOLGC1843851Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis14CTD_human;ORPHANET;UNIPROT
TgenePOLGC1834846Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 18CTD_human;ORPHANET;UNIPROT
TgenePOLGC0205710Alpers Syndrome (disorder)4CTD_human;ORPHANET;UNIPROT
TgenePOLGC0007795Diffuse Cerebral Sclerosis of Schilder3CTD_human
TgenePOLGC0005586Bipolar Disorder2PSYGENET
TgenePOLGC0036572Seizures2CTD_human;HPO
TgenePOLGC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgenePOLGC0014544Epilepsy1CTD_human;HPO
TgenePOLGC0021364Male infertility1CTD_human
TgenePOLGC0023264Leigh Disease1UNIPROT
TgenePOLGC0162674Chronic progressive external ophthalmoplegia1CTD_human;HPO
TgenePOLGC0242422Parkinsonian Disorders1CTD_human;HPO
TgenePOLGC0525045Mood Disorders1PSYGENET
TgenePOLGC0751651Mitochondrial Diseases1CTD_human
TgenePOLGC3150914MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)1CTD_human;ORPHANET;UNIPROT