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Fusion gene ID: 27938 |
FusionGeneSummary for POLH_PKHD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POLH_PKHD1 | Fusion gene ID: 27938 | Hgene | Tgene | Gene symbol | POLH | PKHD1 | Gene ID | 5429 | 5314 |
| Gene name | DNA polymerase eta | PKHD1, fibrocystin/polyductin | |
| Synonyms | RAD30|RAD30A|XP-V|XPV | ARPKD|FCYT|FPC|PKD4|TIGM1 | |
| Cytomap | 6p21.1 | 6p12.3-p12.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA polymerase etaRAD30 homolog Apolymerase (DNA directed), etapolymerase (DNA) etaxeroderma pigmentosum variant type protein | fibrocystinTIG multiple domains 1fibrocystin/polyductin complexpolycystic kidney and hepatic disease 1 (autosomal recessive)polycystic kidney and hepatic disease 1 proteinpolyductintigmin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y253 | P08F94 | |
| Ensembl transtripts involved in fusion gene | ENST00000372236, ENST00000535400, ENST00000372226, | ENST00000371117, ENST00000340994, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: POLH [Title/Abstract] AND PKHD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | POLH | GO:0000731 | DNA synthesis involved in DNA repair | 17563354 |
| Hgene | POLH | GO:0010225 | response to UV-C | 17563354 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | KIRP | TCGA-UZ-A9PQ-01A | POLH | chr6 | 43568828 | + | PKHD1 | chr6 | 51656171 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000372236 | ENST00000371117 | POLH | chr6 | 43568828 | + | PKHD1 | chr6 | 51656171 | - |
| Frame-shift | ENST00000372236 | ENST00000340994 | POLH | chr6 | 43568828 | + | PKHD1 | chr6 | 51656171 | - |
| Frame-shift | ENST00000535400 | ENST00000371117 | POLH | chr6 | 43568828 | + | PKHD1 | chr6 | 51656171 | - |
| Frame-shift | ENST00000535400 | ENST00000340994 | POLH | chr6 | 43568828 | + | PKHD1 | chr6 | 51656171 | - |
| Frame-shift | ENST00000372226 | ENST00000371117 | POLH | chr6 | 43568828 | + | PKHD1 | chr6 | 51656171 | - |
| Frame-shift | ENST00000372226 | ENST00000340994 | POLH | chr6 | 43568828 | + | PKHD1 | chr6 | 51656171 | - |
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FusionProtFeatures for POLH_PKHD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POLH | PKHD1 |
| 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}. | May be required for correct bipolar cell divisionthrough the regulation of centrosome duplication and mitoticspindle assembly. May be a receptor protein that acts incollecting-duct and biliary differentiation.{ECO:0000269|PubMed:20554582}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for POLH_PKHD1 |
| 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_PKHD1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| POLH | PCNA, REV1, RAD18, TUBA1B, TUBB, UBE2B, UBC, RCHY1, MYC, POLI, HSP90AA1, MDM2, SPRTN, MLH1, APP, BRCA1, FANCD2, TRAIP, LGR4, NXF1, PALB2, BRCA2, PCBP1, USP7, CENPF, PLD1, DHX16, PACSIN3, SIRT7, GTPBP2, CASC5, FRYL, POLD2, LSM5, POTEI, ACTBL2, ACTB, TUBA4A, AHNAK, WBP2 | PKHD1 | LGR4 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for POLH_PKHD1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for POLH_PKHD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | POLH | C1848410 | Xeroderma pigmentosum, variant type | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | POLH | C0043346 | Xeroderma Pigmentosum | 1 | CTD_human |
| Tgene | PKHD1 | C0085548 | Autosomal Recessive Polycystic Kidney Disease | 11 | CTD_human;ORPHANET;UNIPROT |
| Tgene | PKHD1 | C0008340 | Choledochal Cyst | 1 | CTD_human |
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