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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:POLG-POLG (FusionGDB2 ID:66523)

Fusion Gene Summary for POLG-POLG

check button Fusion gene summary
Fusion gene informationFusion gene name: POLG-POLG
Fusion gene ID: 66523
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 subunitmitochondrial polymerase gamma catalytic subunitpolymerase (DNA directed), gammapolymerase (DNA) gamma, catalytic subunittruncated mitochondrial DNA polymerase gamDNA polymerase subunit gamma-1PolG-alphamitochondrial DNA polymerase catalytic subunitmitochondrial polymerase gamma catalytic subunitpolymerase (DNA directed), gammapolymerase (DNA) gamma, catalytic subunittruncated mitochondrial DNA polymerase gam
Modification date2020032520200325
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000268124, ENST00000442287, 
ENST00000525806, 		ENST00000268124, 
ENST00000442287, ENST00000525806, 
Fusion gene scores* DoF score4 X 6 X 3=722 X 3 X 2=12
# samples 63
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

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

Most frequent breakpointPOLG(89868223)-POLG(89867728), # samples:1
POLG(89866046)-POLG(89865083), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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:0006261

DNA-dependent DNA replication

10608893|15167897|19837034|19858216|26123486|26446790|28430993

HgenePOLG

GO:0006287

base-excision repair, gap-filling

15177179

TgenePOLG

GO:0006261

DNA-dependent DNA replication

10608893|15167897|19837034|19858216|26123486|26446790|28430993

TgenePOLG

GO:0006287

base-excision repair, gap-filling

15177179


check buttonFusion gene breakpoints across POLG (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across POLG (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAW277008POLGchr15

89868223

+POLGchr15

89867728

+
ChiTaRS5.0N/ABQ306477POLGchr15

89866046

+POLGchr15

89865083

-


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Fusion Gene ORF analysis for POLG-POLG

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-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

+
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

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for POLG-POLG


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for POLG-POLG


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for POLG-POLG


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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


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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Related Drugs for POLG-POLG


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for POLG-POLG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePOLGC0205710Alpers Syndrome (disorder)17CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePOLGC4225153PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 116GENOMICS_ENGLAND;UNIPROT
HgenePOLGC1843851Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis14CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePOLGC1834846Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 110CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePOLGC3150914MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePOLGC0004712Balo's Concentric Sclerosis3CTD_human
HgenePOLGC0007795Diffuse Cerebral Sclerosis of Schilder3CTD_human
HgenePOLGC0005586Bipolar Disorder2PSYGENET
HgenePOLGC0019193Hepatitis, Toxic2CTD_human
HgenePOLGC0022333Jacksonian Seizure2CTD_human
HgenePOLGC0036572Seizures2CTD_human
HgenePOLGC0149958Complex partial seizures2CTD_human
HgenePOLGC0234533Generalized seizures2CTD_human
HgenePOLGC0234535Clonic Seizures2CTD_human
HgenePOLGC0270824Visual seizure2CTD_human
HgenePOLGC0270844Tonic Seizures2CTD_human
HgenePOLGC0270846Epileptic drop attack2CTD_human
HgenePOLGC0422850Seizures, Somatosensory2CTD_human
HgenePOLGC0422852Seizures, Auditory2CTD_human
HgenePOLGC0422853Olfactory seizure2CTD_human
HgenePOLGC0422854Gustatory seizure2CTD_human
HgenePOLGC0422855Vertiginous seizure2CTD_human
HgenePOLGC0494475Tonic - clonic seizures2CTD_human
HgenePOLGC0751056Non-epileptic convulsion2CTD_human
HgenePOLGC0751110Single Seizure2CTD_human
HgenePOLGC0751123Atonic Absence Seizures2CTD_human
HgenePOLGC0751494Convulsive Seizures2CTD_human
HgenePOLGC0751495Seizures, Focal2CTD_human
HgenePOLGC0751496Seizures, Sensory2CTD_human
HgenePOLGC0860207Drug-Induced Liver Disease2CTD_human
HgenePOLGC1262760Hepatitis, Drug-Induced2CTD_human
HgenePOLGC3495874Nonepileptic Seizures2CTD_human
HgenePOLGC3658290Drug-Induced Acute Liver Injury2CTD_human
HgenePOLGC4048158Convulsions2CTD_human
HgenePOLGC4277682Chemical and Drug Induced Liver Injury2CTD_human
HgenePOLGC4279912Chemically-Induced Liver Toxicity2CTD_human
HgenePOLGC4316903Absence Seizures2CTD_human
HgenePOLGC4317109Epileptic Seizures2CTD_human
HgenePOLGC4317123Myoclonic Seizures2CTD_human
HgenePOLGC4505436Generalized Absence Seizures2CTD_human
HgenePOLGC0014544Epilepsy1CTD_human
HgenePOLGC0021364Male infertility1CTD_human
HgenePOLGC0023264Leigh Disease1UNIPROT
HgenePOLGC0086237Epilepsy, Cryptogenic1CTD_human
HgenePOLGC0162674Chronic progressive external ophthalmoplegia1CTD_human
HgenePOLGC0236018Aura1CTD_human
HgenePOLGC0242422Parkinsonian Disorders1CTD_human
HgenePOLGC0242423Ramsay Hunt Paralysis Syndrome1CTD_human
HgenePOLGC0525045Mood Disorders1PSYGENET
HgenePOLGC0751111Awakening Epilepsy1CTD_human
HgenePOLGC0751651Mitochondrial Diseases1CTD_human
HgenePOLGC0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
HgenePOLGC0752098Autosomal Dominant Parkinsonism1CTD_human
HgenePOLGC0752100Autosomal Recessive Parkinsonism1CTD_human
HgenePOLGC0752101Parkinsonism, Experimental1CTD_human
HgenePOLGC0752104Familial Juvenile Parkinsonism1CTD_human
HgenePOLGC0752105Parkinsonism, Juvenile1CTD_human
HgenePOLGC0848676Subfertility, Male1CTD_human
HgenePOLGC0872218MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME1ORPHANET
HgenePOLGC0917731Male sterility1CTD_human
HgenePOLGC0949855Electron Transport Chain Deficiencies, Mitochondrial1CTD_human
HgenePOLGC0949856Oxidative Phosphorylation Deficiencies1CTD_human
HgenePOLGC0949857Mitochondrial Respiratory Chain Deficiencies1CTD_human
HgenePOLGC1843852SPINOCEREBELLAR ATAXIA WITH EPILEPSY1ORPHANET
HgenePOLGC1850303PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE1CTD_human;ORPHANET
HgenePOLGC1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
TgenePOLGC0205710Alpers Syndrome (disorder)17CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePOLGC4225153PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 116GENOMICS_ENGLAND;UNIPROT
TgenePOLGC1843851Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis14CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePOLGC1834846Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 110CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePOLGC3150914MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePOLGC0004712Balo's Concentric Sclerosis3CTD_human
TgenePOLGC0007795Diffuse Cerebral Sclerosis of Schilder3CTD_human
TgenePOLGC0005586Bipolar Disorder2PSYGENET
TgenePOLGC0019193Hepatitis, Toxic2CTD_human
TgenePOLGC0022333Jacksonian Seizure2CTD_human
TgenePOLGC0036572Seizures2CTD_human
TgenePOLGC0149958Complex partial seizures2CTD_human
TgenePOLGC0234533Generalized seizures2CTD_human
TgenePOLGC0234535Clonic Seizures2CTD_human
TgenePOLGC0270824Visual seizure2CTD_human
TgenePOLGC0270844Tonic Seizures2CTD_human
TgenePOLGC0270846Epileptic drop attack2CTD_human
TgenePOLGC0422850Seizures, Somatosensory2CTD_human
TgenePOLGC0422852Seizures, Auditory2CTD_human
TgenePOLGC0422853Olfactory seizure2CTD_human
TgenePOLGC0422854Gustatory seizure2CTD_human
TgenePOLGC0422855Vertiginous seizure2CTD_human
TgenePOLGC0494475Tonic - clonic seizures2CTD_human
TgenePOLGC0751056Non-epileptic convulsion2CTD_human
TgenePOLGC0751110Single Seizure2CTD_human
TgenePOLGC0751123Atonic Absence Seizures2CTD_human
TgenePOLGC0751494Convulsive Seizures2CTD_human
TgenePOLGC0751495Seizures, Focal2CTD_human
TgenePOLGC0751496Seizures, Sensory2CTD_human
TgenePOLGC0860207Drug-Induced Liver Disease2CTD_human
TgenePOLGC1262760Hepatitis, Drug-Induced2CTD_human
TgenePOLGC3495874Nonepileptic Seizures2CTD_human
TgenePOLGC3658290Drug-Induced Acute Liver Injury2CTD_human
TgenePOLGC4048158Convulsions2CTD_human
TgenePOLGC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgenePOLGC4279912Chemically-Induced Liver Toxicity2CTD_human
TgenePOLGC4316903Absence Seizures2CTD_human
TgenePOLGC4317109Epileptic Seizures2CTD_human
TgenePOLGC4317123Myoclonic Seizures2CTD_human
TgenePOLGC4505436Generalized Absence Seizures2CTD_human
TgenePOLGC0014544Epilepsy1CTD_human
TgenePOLGC0021364Male infertility1CTD_human
TgenePOLGC0023264Leigh Disease1UNIPROT
TgenePOLGC0086237Epilepsy, Cryptogenic1CTD_human
TgenePOLGC0162674Chronic progressive external ophthalmoplegia1CTD_human
TgenePOLGC0236018Aura1CTD_human
TgenePOLGC0242422Parkinsonian Disorders1CTD_human
TgenePOLGC0242423Ramsay Hunt Paralysis Syndrome1CTD_human
TgenePOLGC0525045Mood Disorders1PSYGENET
TgenePOLGC0751111Awakening Epilepsy1CTD_human
TgenePOLGC0751651Mitochondrial Diseases1CTD_human
TgenePOLGC0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
TgenePOLGC0752098Autosomal Dominant Parkinsonism1CTD_human
TgenePOLGC0752100Autosomal Recessive Parkinsonism1CTD_human
TgenePOLGC0752101Parkinsonism, Experimental1CTD_human
TgenePOLGC0752104Familial Juvenile Parkinsonism1CTD_human
TgenePOLGC0752105Parkinsonism, Juvenile1CTD_human
TgenePOLGC0848676Subfertility, Male1CTD_human
TgenePOLGC0872218MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME1ORPHANET
TgenePOLGC0917731Male sterility1CTD_human
TgenePOLGC0949855Electron Transport Chain Deficiencies, Mitochondrial1CTD_human
TgenePOLGC0949856Oxidative Phosphorylation Deficiencies1CTD_human
TgenePOLGC0949857Mitochondrial Respiratory Chain Deficiencies1CTD_human
TgenePOLGC1843852SPINOCEREBELLAR ATAXIA WITH EPILEPSY1ORPHANET
TgenePOLGC1850303PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE1CTD_human;ORPHANET
TgenePOLGC1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human