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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: 27939

FusionGeneSummary for POLH_POLH

check button Fusion gene summary
Fusion gene informationFusion gene name: POLH_POLH
Fusion gene ID: 27939
HgeneTgene
Gene symbol

POLH

POLH

Gene ID

5429

5429

Gene nameDNA polymerase etaDNA polymerase eta
SynonymsRAD30|RAD30A|XP-V|XPVRAD30|RAD30A|XP-V|XPV
Cytomap

6p21.1

6p21.1

Type of geneprotein-codingprotein-coding
DescriptionDNA polymerase etaRAD30 homolog Apolymerase (DNA directed), etapolymerase (DNA) etaxeroderma pigmentosum variant type proteinDNA polymerase etaRAD30 homolog Apolymerase (DNA directed), etapolymerase (DNA) etaxeroderma pigmentosum variant type protein
Modification date2018052320180523
UniProtAcc

Q9Y253

Q9Y253

Ensembl transtripts involved in fusion geneENST00000372236, ENST00000535400, 
ENST00000372226, 
ENST00000372236, 
ENST00000535400, ENST00000372226, 
Fusion gene scores* DoF score4 X 4 X 4=645 X 5 X 3=75
# samples 45
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: POLH [Title/Abstract] AND POLH [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
HgenePOLH

GO:0000731

DNA synthesis involved in DNA repair

17563354

HgenePOLH

GO:0010225

response to UV-C

17563354

TgenePOLH

GO:0000731

DNA synthesis involved in DNA repair

17563354

TgenePOLH

GO:0010225

response to UV-C

17563354


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
ChiTaRS3.1AA809386POLHchr6

43583238

-POLHchr6

43586416

-
* 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
3UTR-intronENST00000372236ENST00000372236POLHchr6

43583238

-POLHchr6

43586416

-
3UTR-intronENST00000372236ENST00000535400POLHchr6

43583238

-POLHchr6

43586416

-
3UTR-intronENST00000372236ENST00000372226POLHchr6

43583238

-POLHchr6

43586416

-
intron-intronENST00000535400ENST00000372236POLHchr6

43583238

-POLHchr6

43586416

-
intron-intronENST00000535400ENST00000535400POLHchr6

43583238

-POLHchr6

43586416

-
intron-intronENST00000535400ENST00000372226POLHchr6

43583238

-POLHchr6

43586416

-
3UTR-intronENST00000372226ENST00000372236POLHchr6

43583238

-POLHchr6

43586416

-
3UTR-intronENST00000372226ENST00000535400POLHchr6

43583238

-POLHchr6

43586416

-
3UTR-intronENST00000372226ENST00000372226POLHchr6

43583238

-POLHchr6

43586416

-

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FusionProtFeatures for POLH_POLH


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

Q9Y253

POLH

Q9Y253

DNA polymerase specifically involved in the DNA repairby translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006,PubMed:24449906). Due to low processivity on both damaged andnormal DNA, cooperates with the heterotetrameric (REV3L, REV7,POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions.Inserts one or 2 nucleotide(s) opposite the lesion, the primer isfurther extended by the tetrameric POLZ complex. In the case of1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP oppositethe 3' guanine (PubMed:24449906). Particularly important for therepair of UV-induced pyrimidine dimers (PubMed:10385124,PubMed:11743006). Although inserts the correct base, may causebase transitions and transversions depending upon the context. Mayplay a role in hypermutation at immunoglobulin genes(PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have any lyaseactivity, preventing the release of the 5'-deoxyribose phosphate(5'-dRP) residue. This covalent trapping of the enzyme by the 5'-dRP residue inhibits its DNA synthetic activity during baseexcision repair, thereby avoiding high incidence of mutagenesis(PubMed:14630940). Targets POLI to replication foci(PubMed:12606586). {ECO:0000269|PubMed:10385124,ECO:0000269|PubMed:11376341, ECO:0000269|PubMed:11743006,ECO:0000269|PubMed:12606586, ECO:0000269|PubMed:14630940,ECO:0000269|PubMed:14734526, ECO:0000269|PubMed:24449906}. DNA polymerase specifically involved in the DNA repairby translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006,PubMed:24449906). Due to low processivity on both damaged andnormal DNA, cooperates with the heterotetrameric (REV3L, REV7,POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions.Inserts one or 2 nucleotide(s) opposite the lesion, the primer isfurther extended by the tetrameric POLZ complex. In the case of1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP oppositethe 3' guanine (PubMed:24449906). Particularly important for therepair of UV-induced pyrimidine dimers (PubMed:10385124,PubMed:11743006). Although inserts the correct base, may causebase transitions and transversions depending upon the context. Mayplay a role in hypermutation at immunoglobulin genes(PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have any lyaseactivity, preventing the release of the 5'-deoxyribose phosphate(5'-dRP) residue. This covalent trapping of the enzyme by the 5'-dRP residue inhibits its DNA synthetic activity during baseexcision repair, thereby avoiding high incidence of mutagenesis(PubMed:14630940). Targets POLI to replication foci(PubMed:12606586). {ECO:0000269|PubMed:10385124,ECO:0000269|PubMed:11376341, ECO:0000269|PubMed:11743006,ECO:0000269|PubMed:12606586, ECO:0000269|PubMed:14630940,ECO:0000269|PubMed:14734526, ECO:0000269|PubMed:24449906}.

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 POLH_POLH


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 POLH_POLH


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 POLH_POLH


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 POLH_POLH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePOLHC1848410Xeroderma pigmentosum, variant type3CTD_human;ORPHANET;UNIPROT
HgenePOLHC0043346Xeroderma Pigmentosum1CTD_human
TgenePOLHC1848410Xeroderma pigmentosum, variant type3CTD_human;ORPHANET;UNIPROT
TgenePOLHC0043346Xeroderma Pigmentosum1CTD_human