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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-FANCI (FusionGDB2 ID:66944)

Fusion Gene Summary for POLG-FANCI

check button Fusion gene summary
Fusion gene informationFusion gene name: POLG-FANCI
Fusion gene ID: 66944
HgeneTgene
Gene symbol

POLG

FANCI

Gene ID

5428

55215

Gene nameDNA polymerase gamma, catalytic subunitFA complementation group I
SynonymsMDP1|MIRAS|MTDPS4A|MTDPS4B|PEO|POLG1|POLGA|SANDO|SCAEKIAA1794
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 gamFanconi anemia group I proteinFanconi anemia complementation group I
Modification date2020032520200313
UniProtAcc.

Q9NVI1

Ensembl transtripts involved in fusion geneENST00000268124, ENST00000442287, 
ENST00000525806, 		ENST00000451393, 
ENST00000566615, ENST00000567996, 
ENST00000300027, ENST00000310775, 
Fusion gene scores* DoF score4 X 6 X 3=726 X 8 X 5=240
# samples 68
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointPOLG(89876326)-FANCI(89828326), # samples:1
POLG(89876327)-FANCI(89828327), # samples:1
Anticipated loss of major functional domain due to fusion event.POLG-FANCI seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
POLG-FANCI seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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

TgeneFANCI

GO:0031398

positive regulation of protein ubiquitination

18029348


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 FANCI (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
ChimerDB4STADTCGA-D7-A6F2-01APOLGchr15

89876327

-FANCIchr15

89828327

+
ChimerDB4STADTCGA-D7-A6F2POLGchr15

89876326

-FANCIchr15

89828326

+


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Fusion Gene ORF analysis for POLG-FANCI

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
5CDS-intronENST00000268124ENST00000451393POLGchr15

89876327

-FANCIchr15

89828327

+
5CDS-intronENST00000268124ENST00000451393POLGchr15

89876326

-FANCIchr15

89828326

+
5CDS-intronENST00000268124ENST00000566615POLGchr15

89876327

-FANCIchr15

89828327

+
5CDS-intronENST00000268124ENST00000566615POLGchr15

89876326

-FANCIchr15

89828326

+
5CDS-intronENST00000268124ENST00000567996POLGchr15

89876327

-FANCIchr15

89828327

+
5CDS-intronENST00000268124ENST00000567996POLGchr15

89876326

-FANCIchr15

89828326

+
5CDS-intronENST00000442287ENST00000451393POLGchr15

89876327

-FANCIchr15

89828327

+
5CDS-intronENST00000442287ENST00000451393POLGchr15

89876326

-FANCIchr15

89828326

+
5CDS-intronENST00000442287ENST00000566615POLGchr15

89876327

-FANCIchr15

89828327

+
5CDS-intronENST00000442287ENST00000566615POLGchr15

89876326

-FANCIchr15

89828326

+
5CDS-intronENST00000442287ENST00000567996POLGchr15

89876327

-FANCIchr15

89828327

+
5CDS-intronENST00000442287ENST00000567996POLGchr15

89876326

-FANCIchr15

89828326

+
5UTR-3CDSENST00000525806ENST00000300027POLGchr15

89876327

-FANCIchr15

89828327

+
5UTR-3CDSENST00000525806ENST00000300027POLGchr15

89876326

-FANCIchr15

89828326

+
5UTR-3CDSENST00000525806ENST00000310775POLGchr15

89876327

-FANCIchr15

89828327

+
5UTR-3CDSENST00000525806ENST00000310775POLGchr15

89876326

-FANCIchr15

89828326

+
5UTR-intronENST00000525806ENST00000451393POLGchr15

89876327

-FANCIchr15

89828327

+
5UTR-intronENST00000525806ENST00000451393POLGchr15

89876326

-FANCIchr15

89828326

+
5UTR-intronENST00000525806ENST00000566615POLGchr15

89876327

-FANCIchr15

89828327

+
5UTR-intronENST00000525806ENST00000566615POLGchr15

89876326

-FANCIchr15

89828326

+
5UTR-intronENST00000525806ENST00000567996POLGchr15

89876327

-FANCIchr15

89828327

+
5UTR-intronENST00000525806ENST00000567996POLGchr15

89876326

-FANCIchr15

89828326

+
Frame-shiftENST00000268124ENST00000300027POLGchr15

89876327

-FANCIchr15

89828327

+
Frame-shiftENST00000268124ENST00000300027POLGchr15

89876326

-FANCIchr15

89828326

+
Frame-shiftENST00000268124ENST00000310775POLGchr15

89876327

-FANCIchr15

89828327

+
Frame-shiftENST00000268124ENST00000310775POLGchr15

89876326

-FANCIchr15

89828326

+
Frame-shiftENST00000442287ENST00000300027POLGchr15

89876327

-FANCIchr15

89828327

+
Frame-shiftENST00000442287ENST00000300027POLGchr15

89876326

-FANCIchr15

89828326

+
Frame-shiftENST00000442287ENST00000310775POLGchr15

89876327

-FANCIchr15

89828327

+
Frame-shiftENST00000442287ENST00000310775POLGchr15

89876326

-FANCIchr15

89828326

+

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-FANCI


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)
POLGchr1589876326-FANCIchr1589828326+0.0006865880.9993135
POLGchr1589876326-FANCIchr1589828326+0.0006865880.9993135
POLGchr1589876326-FANCIchr1589828326+0.0006865880.9993135
POLGchr1589876326-FANCIchr1589828326+0.0006865880.9993135

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.
genomic feature of top 1%

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Fusion Protein Features for POLG-FANCI


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:89876326/:89828326)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q9NVI1

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage. {ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17452773, ECO:0000269|PubMed:17460694, ECO:0000269|PubMed:19111657}.

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-FANCI


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-FANCI


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-FANCI


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-FANCI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource