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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: 28666

FusionGeneSummary for PRIMPOL_PRIMPOL

check button Fusion gene summary
Fusion gene informationFusion gene name: PRIMPOL_PRIMPOL
Fusion gene ID: 28666
HgeneTgene
Gene symbol

PRIMPOL

PRIMPOL

Gene ID

201973

201973

Gene nameprimase and DNA directed polymeraseprimase and DNA directed polymerase
SynonymsCCDC111|MYP22|Primpol1CCDC111|MYP22|Primpol1
Cytomap

4q35.1

4q35.1

Type of geneprotein-codingprotein-coding
DescriptionDNA-directed primase/polymerase proteincoiled-coil domain-containing protein 111hPrimpol1DNA-directed primase/polymerase proteincoiled-coil domain-containing protein 111hPrimpol1
Modification date2018052620180526
UniProtAcc

Q96LW4

Q96LW4

Ensembl transtripts involved in fusion geneENST00000314970, ENST00000515774, 
ENST00000503752, ENST00000512834, 
ENST00000510864, 
ENST00000314970, 
ENST00000515774, ENST00000503752, 
ENST00000512834, ENST00000510864, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: PRIMPOL [Title/Abstract] AND PRIMPOL [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
HgenePRIMPOL

GO:0009411

response to UV

24240614|24267451

TgenePRIMPOL

GO:0009411

response to UV

24240614|24267451


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
ChiTaRS3.1CF130286PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
* 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-shiftENST00000314970ENST00000314970PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000314970ENST00000515774PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000314970ENST00000503752PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000314970ENST00000512834PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
5CDS-intronENST00000314970ENST00000510864PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
In-frameENST00000515774ENST00000314970PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
In-frameENST00000515774ENST00000515774PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
In-frameENST00000515774ENST00000503752PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
In-frameENST00000515774ENST00000512834PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
5CDS-intronENST00000515774ENST00000510864PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000503752ENST00000314970PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000503752ENST00000515774PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000503752ENST00000503752PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000503752ENST00000512834PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
5CDS-intronENST00000503752ENST00000510864PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000512834ENST00000314970PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000512834ENST00000515774PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000512834ENST00000503752PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
Frame-shiftENST00000512834ENST00000512834PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
5CDS-intronENST00000512834ENST00000510864PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
3UTR-3CDSENST00000510864ENST00000314970PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
3UTR-3CDSENST00000510864ENST00000515774PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
3UTR-3CDSENST00000510864ENST00000503752PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
3UTR-3CDSENST00000510864ENST00000512834PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+
3UTR-intronENST00000510864ENST00000510864PRIMPOLchr4

185615762

-PRIMPOLchr4

185612820

+

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FusionProtFeatures for PRIMPOL_PRIMPOL


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

Q96LW4

PRIMPOL

Q96LW4

DNA primase and DNA polymerase able to initiate de novoDNA synthesis using dNTPs. Shows a high capacity to tolerate DNAdamage lesions such as 8oxoG and abasic sites in DNA. Involved intranslesion synthesis via its primase activity by mediatinguninterrupted fork progression after programmed or damage-inducedfork arrest and by reinitiating DNA synthesis after dNTPdepletion. Required for mitochondrial DNA (mtDNA) synthesis,suggesting it may be involved in DNA tolerance during thereplication of mitochondrial DNA. Has non-overlapping functionwith POLH. {ECO:0000269|PubMed:24126761,ECO:0000269|PubMed:24207056, ECO:0000269|PubMed:24240614,ECO:0000269|PubMed:24267451}. DNA primase and DNA polymerase able to initiate de novoDNA synthesis using dNTPs. Shows a high capacity to tolerate DNAdamage lesions such as 8oxoG and abasic sites in DNA. Involved intranslesion synthesis via its primase activity by mediatinguninterrupted fork progression after programmed or damage-inducedfork arrest and by reinitiating DNA synthesis after dNTPdepletion. Required for mitochondrial DNA (mtDNA) synthesis,suggesting it may be involved in DNA tolerance during thereplication of mitochondrial DNA. Has non-overlapping functionwith POLH. {ECO:0000269|PubMed:24126761,ECO:0000269|PubMed:24207056, ECO:0000269|PubMed:24240614,ECO:0000269|PubMed:24267451}.

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 PRIMPOL_PRIMPOL


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 PRIMPOL_PRIMPOL


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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RelatedDrugs for PRIMPOL_PRIMPOL


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 PRIMPOL_PRIMPOL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRIMPOLC3809464MYOPIA 22, AUTOSOMAL DOMINANT1UNIPROT
TgenePRIMPOLC3809464MYOPIA 22, AUTOSOMAL DOMINANT1UNIPROT