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Fusion gene ID: 27911 |
FusionGeneSummary for POLB_IKBKB |
Fusion gene summary |
Fusion gene information | Fusion gene name: POLB_IKBKB | Fusion gene ID: 27911 | Hgene | Tgene | Gene symbol | POLB | IKBKB | Gene ID | 11232 | 3551 |
Gene name | DNA polymerase gamma 2, accessory subunit | inhibitor of nuclear factor kappa B kinase subunit beta | |
Synonyms | HP55|MTPOLB|PEOA4|POLB|POLG-BETA|POLGB | IKK-beta|IKK2|IKKB|IMD15|NFKBIKB | |
Cytomap | 17q23.3 | 8p11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA polymerase subunit gamma-2, mitochondrialDNA polymerase gamma accessory 55 kDa subunitmitochondrial DNA polymerase subunit gamma-2mitochondrial DNA polymerase, accessory subunitp55polymerase (DNA directed), gamma 2, accessory subunitpolymerase ( | inhibitor of nuclear factor kappa-B kinase subunit betaI-kappa-B kinase 2I-kappa-B-kinase betaIKK-Binhibitor of kappa light polypeptide gene enhancer in B-cells, kinase betanuclear factor NF-kappa-B inhibitor kinase beta | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P06746 | O14920 | |
Ensembl transtripts involved in fusion gene | ENST00000265421, ENST00000538005, ENST00000530566, ENST00000521492, | ENST00000520810, ENST00000416505, ENST00000519735, ENST00000520835, ENST00000379708, ENST00000518983, ENST00000522147, ENST00000522785, | |
Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 8 X 7 X 3=168 |
# samples | 5 | 10 | |
** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/168*10)=-0.748461233004036 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: POLB [Title/Abstract] AND IKBKB [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. |
* 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 | IKBKB | GO:0006468 | protein phosphorylation | 15084260|20434986 |
Tgene | IKBKB | GO:0018105 | peptidyl-serine phosphorylation | 21399639 |
Tgene | IKBKB | GO:0042325 | regulation of phosphorylation | 26212789 |
Tgene | IKBKB | GO:0045944 | positive regulation of transcription by RNA polymerase II | 23091055|23453807 |
Tgene | IKBKB | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 15790681 |
Tgene | IKBKB | GO:0071356 | cellular response to tumor necrosis factor | 23091055 |
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 | RV | ESCA | TCGA-Z6-AAPN-01A | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
* 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 |
In-frame | ENST00000265421 | ENST00000520810 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
In-frame | ENST00000265421 | ENST00000416505 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
In-frame | ENST00000265421 | ENST00000519735 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
In-frame | ENST00000265421 | ENST00000520835 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5CDS-intron | ENST00000265421 | ENST00000379708 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5CDS-intron | ENST00000265421 | ENST00000518983 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5CDS-intron | ENST00000265421 | ENST00000522147 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5CDS-intron | ENST00000265421 | ENST00000522785 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5UTR-3CDS | ENST00000538005 | ENST00000520810 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5UTR-3CDS | ENST00000538005 | ENST00000416505 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5UTR-3CDS | ENST00000538005 | ENST00000519735 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5UTR-3CDS | ENST00000538005 | ENST00000520835 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5UTR-intron | ENST00000538005 | ENST00000379708 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5UTR-intron | ENST00000538005 | ENST00000518983 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5UTR-intron | ENST00000538005 | ENST00000522147 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
5UTR-intron | ENST00000538005 | ENST00000522785 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-3CDS | ENST00000530566 | ENST00000520810 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-3CDS | ENST00000530566 | ENST00000416505 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-3CDS | ENST00000530566 | ENST00000519735 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-3CDS | ENST00000530566 | ENST00000520835 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-intron | ENST00000530566 | ENST00000379708 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-intron | ENST00000530566 | ENST00000518983 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-intron | ENST00000530566 | ENST00000522147 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-intron | ENST00000530566 | ENST00000522785 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-3CDS | ENST00000521492 | ENST00000520810 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-3CDS | ENST00000521492 | ENST00000416505 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-3CDS | ENST00000521492 | ENST00000519735 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-3CDS | ENST00000521492 | ENST00000520835 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-intron | ENST00000521492 | ENST00000379708 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-intron | ENST00000521492 | ENST00000518983 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-intron | ENST00000521492 | ENST00000522147 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
intron-intron | ENST00000521492 | ENST00000522785 | POLB | chr8 | 42202537 | + | IKBKB | chr8 | 42166419 | + |
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FusionProtFeatures for POLB_IKBKB |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
POLB | IKBKB |
Repair polymerase that plays a key role in base-excisionrepair. Has 5'-deoxyribose-5-phosphate lyase (dRP lyase) activitythat removes the 5' sugar phosphate and also acts as a DNApolymerase that adds one nucleotide to the 3' end of the arisingsingle-nucleotide gap. Conducts 'gap-filling' DNA synthesis in astepwise distributive fashion rather than in a processive fashionas for other DNA polymerases. {ECO:0000269|PubMed:11805079,ECO:0000269|PubMed:21362556, ECO:0000269|PubMed:9207062,ECO:0000269|PubMed:9572863}. | Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimulisuch as inflammatory cytokines, bacterial or viral products, DNAdamages or other cellular stresses. Acts as part of the canonicalIKK complex in the conventional pathway of NF-kappa-B activationand phosphorylates inhibitors of NF-kappa-B on 2 critical serineresidues. These modifications allow polyubiquitination of theinhibitors and subsequent degradation by the proteasome. In turn,free NF-kappa-B is translocated into the nucleus and activates thetranscription of hundreds of genes involved in immune response,growth control, or protection against apoptosis. In addition tothe NF-kappa-B inhibitors, phosphorylates several other componentsof the signaling pathway including NEMO/IKBKG, NF-kappa-B subunitsRELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE.IKK-related kinase phosphorylations may prevent the overproductionof inflammatory mediators since they exert a negative regulationon canonical IKKs. Phosphorylates FOXO3, mediating the TNF-dependent inactivation of this pro-apoptotic transcription factor.Also phosphorylates other substrates including NCOA3, BCL10 andIRS1. Within the nucleus, acts as an adapter protein for NFKBIAdegradation in UV-induced NF-kappa-B activation.{ECO:0000269|PubMed:11297557, ECO:0000269|PubMed:15084260,ECO:0000269|PubMed:17213322, ECO:0000269|PubMed:19716809,ECO:0000269|PubMed:20410276, ECO:0000269|PubMed:20434986,ECO:0000269|PubMed:20797629, ECO:0000269|PubMed:21138416}. |
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 |
Tgene | >IKBKB | chr8:42202537 | chr8:42166419 | ENST00000416505 | + | 5 | 21 | 458_479 | 130 | 698 | Region | Note=Leucine-zipper |
Tgene | >IKBKB | chr8:42202537 | chr8:42166419 | ENST00000416505 | + | 5 | 21 | 737_742 | 130 | 698 | Region | Note=NEMO-binding |
Tgene | >IKBKB | chr8:42202537 | chr8:42166419 | ENST00000519735 | + | 6 | 9 | 458_479 | 189 | 257 | Region | Note=Leucine-zipper |
Tgene | >IKBKB | chr8:42202537 | chr8:42166419 | ENST00000519735 | + | 6 | 9 | 737_742 | 189 | 257 | Region | Note=NEMO-binding |
Tgene | >IKBKB | chr8:42202537 | chr8:42166419 | ENST00000520810 | + | 6 | 22 | 458_479 | 189 | 757 | Region | Note=Leucine-zipper |
Tgene | >IKBKB | chr8:42202537 | chr8:42166419 | ENST00000520810 | + | 6 | 22 | 737_742 | 189 | 757 | Region | Note=NEMO-binding |
Tgene | >IKBKB | chr8:42202537 | chr8:42166419 | ENST00000520835 | + | 5 | 21 | 458_479 | 187 | 755 | Region | Note=Leucine-zipper |
Tgene | >IKBKB | chr8:42202537 | chr8:42166419 | ENST00000520835 | + | 5 | 21 | 737_742 | 187 | 755 | Region | Note=NEMO-binding |
- 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 |
Hgene | >POLB | chr8:42202537 | chr8:42166419 | ENST00000265421 | + | 3 | 14 | 183_192 | 62 | 336 | Region | Note=DNA binding |
Tgene | IKBKB | chr8:42202537 | chr8:42166419 | ENST00000416505 | + | 5 | 21 | 15_300 | 130 | 698 | Domain | Protein kinase |
Tgene | IKBKB | chr8:42202537 | chr8:42166419 | ENST00000519735 | + | 6 | 9 | 15_300 | 189 | 257 | Domain | Protein kinase |
Tgene | IKBKB | chr8:42202537 | chr8:42166419 | ENST00000520810 | + | 6 | 22 | 15_300 | 189 | 757 | Domain | Protein kinase |
Tgene | IKBKB | chr8:42202537 | chr8:42166419 | ENST00000520835 | + | 5 | 21 | 15_300 | 187 | 755 | Domain | Protein kinase |
Tgene | IKBKB | chr8:42202537 | chr8:42166419 | ENST00000416505 | + | 5 | 21 | 21_29 | 130 | 698 | Nucleotide binding | ATP |
Tgene | IKBKB | chr8:42202537 | chr8:42166419 | ENST00000519735 | + | 6 | 9 | 21_29 | 189 | 257 | Nucleotide binding | ATP |
Tgene | IKBKB | chr8:42202537 | chr8:42166419 | ENST00000520810 | + | 6 | 22 | 21_29 | 189 | 757 | Nucleotide binding | ATP |
Tgene | IKBKB | chr8:42202537 | chr8:42166419 | ENST00000520835 | + | 5 | 21 | 21_29 | 187 | 755 | Nucleotide binding | ATP |
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FusionGeneSequence for POLB_IKBKB |
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 POLB_IKBKB |
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 |
POLB | TAF1D, XRCC1, NEIL1, TLE1, KAT7, PNKP, WRN, NCAPG, PCNA, PARP1, STUB1, HUWE1, UNG, SRPK2, TPP2, APEX1, EP300, XPC, SUPT16H, LIG3, TDP1, PARP2, SSRP1, APLF, HIST1H2AG, HIST2H2AB, BCKDHB, CETN2, APTX, BCKDHA, HSD17B7, HIST1H2BG, XRCC3, EMC2, MMGT1 | IKBKB | TRPC4AP, PPM1B, NFKB1, BTRC, MAP3K13, PRDX3, IRS1, PRKCQ, CHUK, IKBKG, CDC37, PRKDC, TNFRSF1A, TRAF2, CTNNB1, IRAK1, NFKBIA, FANCA, MAP3K11, EIF2AK2, CASP8, NCOA3, IKBKAP, TNFAIP3, MAP3K14, TRAF3IP2, NFKBIB, IKBKB, MAP3K1, MAP3K7, CUEDC2, PPP1CA, PPP1R15A, RELA, AKT1, TNF, PRKCA, PRKCI, PRKCD, DUSP1, TP53, KEAP1, CUL3, HTT, COPS3, COPS4, COPS5, COPS7A, CUL1, JUN, ERC1, TRIM21, HNRNPU, TRIM40, FKBP4, FKBP5, PYGL, CSNK2B, MAPK14, NLRX1, PLK1, MUC1, TP63, HOMER3, IKBKE, NEDD4L, RIPK1, PELI1, TRAF6, USP4, BRAP, BCL10, TNIP2, SRC, PPP2R3C, NLRP2, HSP90AA1, EGLN3, TRIM27, TP73, TRAPPC9, FAF1, PPP2CA, MEOX2, CDKN2A, TRAF1, FOXO3, STAP2, CSF2RA, CSF2RB, TSC1, CREBBP, NAA20, BCL2, DPP4, TAB1, PRKCE, HSPB1, PYCARD, NLRC5, TAB2, AURKA, TPX2, NGFR, SASH1, TFAP2C, FLNC, ROCK1, MTOR, RPTOR, RICTOR, PPARG, SHARPIN, DHCR24, RAN, SLC25A13, SLC25A22, CD40, MAVS, BIRC3, HSP90AB1, CLTC, PRKCB, STK26, COMMD7, MACROD1, LATS2, GLI1, ITCH, USP18, TWIST1, SMN1, KLHL21, TAB3, PSG1, UBC, MALT1, HIF1A, EPAS1, TNIK, IFIT5 |
- 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 POLB_IKBKB |
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 |
Hgene | POLB | P06746 | DB01592 | Iron | DNA polymerase beta | small molecule | approved |
Hgene | POLB | P06746 | DB00987 | Cytarabine | DNA polymerase beta | small molecule | approved|investigational |
Tgene | IKBKB | O14920 | DB00244 | Mesalazine | Inhibitor of nuclear factor kappa-B kinase subunit beta | small molecule | approved |
Tgene | IKBKB | O14920 | DB00795 | Sulfasalazine | Inhibitor of nuclear factor kappa-B kinase subunit beta | small molecule | approved |
Tgene | IKBKB | O14920 | DB00995 | Auranofin | Inhibitor of nuclear factor kappa-B kinase subunit beta | small molecule | approved|investigational |
Tgene | IKBKB | O14920 | DB01169 | Arsenic trioxide | Inhibitor of nuclear factor kappa-B kinase subunit beta | small molecule | approved|investigational |
Tgene | IKBKB | O14920 | DB06151 | Acetylcysteine | Inhibitor of nuclear factor kappa-B kinase subunit beta | small molecule | approved|investigational |
Tgene | IKBKB | O14920 | DB00945 | Acetylsalicylic acid | Inhibitor of nuclear factor kappa-B kinase subunit beta | small molecule | approved|vet_approved |
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RelatedDiseases for POLB_IKBKB |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | POLB | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Hgene | POLB | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | POLB | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |