|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 27915 |
FusionGeneSummary for POLD2_GCK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POLD2_GCK | Fusion gene ID: 27915 | Hgene | Tgene | Gene symbol | POLD2 | GCK | Gene ID | 5425 | 5871 |
| Gene name | DNA polymerase delta 2, accessory subunit | mitogen-activated protein kinase kinase kinase kinase 2 | |
| Synonyms | - | BL44|GCK|RAB8IP | |
| Cytomap | 7p13 | 11q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA polymerase delta subunit 2DAN polymerase delta 2, accessory subunitDNA polymerase delta subunit p50Pol delta B subunit (p50)polymerase (DNA directed), delta 2, accessory subunitpolymerase (DNA directed), delta 2, regulatory subunit 50kDapolymera | mitogen-activated protein kinase kinase kinase kinase 2B lymphocyte serine/threonine protein kinaseMAPK/ERK kinase kinase kinase 2MEK kinase kinase 2MEKKK 2Rab8 interacting proteingerminal centre kinase (GC kinase) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P49005 | P35557 | |
| Ensembl transtripts involved in fusion gene | ENST00000406581, ENST00000223361, ENST00000452185, ENST00000481763, | ENST00000403799, ENST00000395796, ENST00000345378, ENST00000437084, ENST00000476008, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 2 X 2=12 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: POLD2 [Title/Abstract] AND GCK [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) |
| 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 |
| Tgene | GCK | GO:0006468 | protein phosphorylation | 11784851 |
| Tgene | GCK | GO:0007257 | activation of JUN kinase activity | 17584736 |
| Tgene | GCK | GO:0035556 | intracellular signal transduction | 11784851 |
| Tgene | GCK | GO:0046330 | positive regulation of JNK cascade | 17584736 |
| 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 | LIHC | TCGA-XR-A8TF-01A | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| * 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 |
| intron-3CDS | ENST00000406581 | ENST00000403799 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000406581 | ENST00000395796 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000406581 | ENST00000345378 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000406581 | ENST00000437084 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-5UTR | ENST00000406581 | ENST00000476008 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000223361 | ENST00000403799 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000223361 | ENST00000395796 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000223361 | ENST00000345378 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000223361 | ENST00000437084 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-5UTR | ENST00000223361 | ENST00000476008 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| 5UTR-3CDS | ENST00000452185 | ENST00000403799 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| 5UTR-3CDS | ENST00000452185 | ENST00000395796 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| 5UTR-3CDS | ENST00000452185 | ENST00000345378 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| 5UTR-3CDS | ENST00000452185 | ENST00000437084 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| 5UTR-5UTR | ENST00000452185 | ENST00000476008 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000481763 | ENST00000403799 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000481763 | ENST00000395796 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000481763 | ENST00000345378 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-3CDS | ENST00000481763 | ENST00000437084 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
| intron-5UTR | ENST00000481763 | ENST00000476008 | POLD2 | chr7 | 44163110 | - | GCK | chr7 | 44193062 | - |
Top |
FusionProtFeatures for POLD2_GCK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POLD2 | GCK |
| As a component of the trimeric and tetrameric DNApolymerase delta complexes (Pol-delta3 and Pol-delta4,respectively), plays a role in high fidelity genome replication,including in lagging strand synthesis, and repair(PubMed:12403614, PubMed:16510448, PubMed:19074196,PubMed:20334433, PubMed:24035200). Pol-delta3 and Pol-delta4 arecharacterized by the absence or the presence of POLD4. Theyexhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4(PubMed:19074196, PubMed:20334433). Although both Pol-delta3 andPol-delta4 process Okazaki fragments in vitro, Pol-delta3 may alsobe better suited to fulfill this task, exhibiting near-absence ofstrand displacement activity compared to Pol-delta4 and stallingon encounter with the 5'-blocking oligonucleotides. Pol-delta3idling process may avoid the formation of a gap, while maintaininga nick that can be readily ligated (PubMed:24035200). Along withDNA polymerase kappa, DNA polymerase delta carries outapproximately half of nucleotide excision repair (NER) synthesisfollowing UV irradiation (PubMed:20227374). Under conditions ofDNA replication stress, required for the repair of brokenreplication forks through break-induced replication (BIR)(PubMed:24310611). Involved in the translesion synthesis (TLS) oftemplates carrying O6-methylguanine or abasic sites performed byPol-delta4, independently of DNA polymerase zeta (REV3L) or eta(POLH). Facilitates abasic site bypass by DNA polymerase delta bypromoting extension from the nucleotide inserted opposite thelesion. Also involved in TLS as a component of the POLZ complex.Along with POLD3, dramatically increases the efficiency andprocessivity of DNA synthesis of the minimal DNA polymerase zetacomplex, consisting of only REV3L and REV7 (PubMed:24449906).{ECO:0000269|PubMed:12403614, ECO:0000269|PubMed:16510448,ECO:0000269|PubMed:19074196, ECO:0000269|PubMed:20227374,ECO:0000269|PubMed:20334433, ECO:0000269|PubMed:24035200,ECO:0000269|PubMed:24310611, ECO:0000269|PubMed:24449906}. | Catalyzes the initial step in utilization of glucose bythe beta-cell and liver at physiological glucose concentration.Glucokinase has a high Km for glucose, and so it is effective onlywhen glucose is abundant. The role of GCK is to provide G6P forthe synthesis of glycogen. Pancreatic glucokinase plays animportant role in modulating insulin secretion. Hepaticglucokinase helps to facilitate the uptake and conversion ofglucose by acting as an insulin-sensitive determinant of hepaticglucose usage. {ECO:0000269|PubMed:11916951,ECO:0000269|PubMed:15277402, ECO:0000269|PubMed:17082186,ECO:0000269|PubMed:18322640, ECO:0000269|PubMed:19146401,ECO:0000269|PubMed:25015100, ECO:0000269|PubMed:8325892}. |
| 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 |
Top |
FusionGeneSequence for POLD2_GCK |
| 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). |
Top |
FusionGenePPI for POLD2_GCK |
| 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 |
| POLD2 | LSM6, KCTD13, PCNA, POLD3, MMS19, POLD1, POLD4, CCHCR1, EP300, SOX12, XRN1, FAM129A, FOXK1, SPRTN, SIRT6, OSBPL9, POLA2, MUS81, ERBB2, XPO1, POLH, REV3L, AMZ1, PPP5C, DKKL1, ERP44, GPR37, P4HA2, NAB2, TRIM25 | GCK | PFKFB2, GCKR, PCNA, AGL, GMIP, SMEK2, UGP2 |
| - 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 |
Top |
RelatedDrugs for POLD2_GCK |
| 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 |
Top |
RelatedDiseases for POLD2_GCK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GCK | C0342277 | Diabetes mellitus autosomal dominant type II (disorder) | 13 | CTD_human;UNIPROT |
| Tgene | GCK | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 4 | CTD_human;HPO;ORPHANET |
| Tgene | GCK | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Tgene | GCK | C0020456 | Hyperglycemia | 1 | CTD_human;HPO |
| Tgene | GCK | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | GCK | C1865290 | Hyperinsulinemic hypoglycemia, familial, 3 | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | GCK | C3888018 | Congenital Hyperinsulinism | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|