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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: 27911

FusionGeneSummary for POLB_IKBKB

check button Fusion gene summary
Fusion gene informationFusion gene name: POLB_IKBKB
Fusion gene ID: 27911
HgeneTgene
Gene symbol

POLB

IKBKB

Gene ID

11232

3551

Gene nameDNA polymerase gamma 2, accessory subunitinhibitor of nuclear factor kappa B kinase subunit beta
SynonymsHP55|MTPOLB|PEOA4|POLB|POLG-BETA|POLGBIKK-beta|IKK2|IKKB|IMD15|NFKBIKB
Cytomap

17q23.3

8p11.21

Type of geneprotein-codingprotein-coding
DescriptionDNA 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 date2018052320180523
UniProtAcc

P06746

O14920

Ensembl transtripts involved in fusion geneENST00000265421, ENST00000538005, 
ENST00000530566, ENST00000521492, 
ENST00000520810, ENST00000416505, 
ENST00000519735, ENST00000520835, 
ENST00000379708, ENST00000518983, 
ENST00000522147, ENST00000522785, 
Fusion gene scores* DoF score5 X 3 X 4=608 X 7 X 3=168
# samples 510
** MAII scorelog2(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 annotationOncogene 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneIKBKB

GO:0006468

protein phosphorylation

15084260|20434986

TgeneIKBKB

GO:0018105

peptidyl-serine phosphorylation

21399639

TgeneIKBKB

GO:0042325

regulation of phosphorylation

26212789

TgeneIKBKB

GO:0045944

positive regulation of transcription by RNA polymerase II

23091055|23453807

TgeneIKBKB

GO:0051092

positive regulation of NF-kappaB transcription factor activity

15790681

TgeneIKBKB

GO:0071356

cellular response to tumor necrosis factor

23091055


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
TCGARVESCATCGA-Z6-AAPN-01APOLBchr8

42202537

+IKBKBchr8

42166419

+
* 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
In-frameENST00000265421ENST00000520810POLBchr8

42202537

+IKBKBchr8

42166419

+
In-frameENST00000265421ENST00000416505POLBchr8

42202537

+IKBKBchr8

42166419

+
In-frameENST00000265421ENST00000519735POLBchr8

42202537

+IKBKBchr8

42166419

+
In-frameENST00000265421ENST00000520835POLBchr8

42202537

+IKBKBchr8

42166419

+
5CDS-intronENST00000265421ENST00000379708POLBchr8

42202537

+IKBKBchr8

42166419

+
5CDS-intronENST00000265421ENST00000518983POLBchr8

42202537

+IKBKBchr8

42166419

+
5CDS-intronENST00000265421ENST00000522147POLBchr8

42202537

+IKBKBchr8

42166419

+
5CDS-intronENST00000265421ENST00000522785POLBchr8

42202537

+IKBKBchr8

42166419

+
5UTR-3CDSENST00000538005ENST00000520810POLBchr8

42202537

+IKBKBchr8

42166419

+
5UTR-3CDSENST00000538005ENST00000416505POLBchr8

42202537

+IKBKBchr8

42166419

+
5UTR-3CDSENST00000538005ENST00000519735POLBchr8

42202537

+IKBKBchr8

42166419

+
5UTR-3CDSENST00000538005ENST00000520835POLBchr8

42202537

+IKBKBchr8

42166419

+
5UTR-intronENST00000538005ENST00000379708POLBchr8

42202537

+IKBKBchr8

42166419

+
5UTR-intronENST00000538005ENST00000518983POLBchr8

42202537

+IKBKBchr8

42166419

+
5UTR-intronENST00000538005ENST00000522147POLBchr8

42202537

+IKBKBchr8

42166419

+
5UTR-intronENST00000538005ENST00000522785POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-3CDSENST00000530566ENST00000520810POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-3CDSENST00000530566ENST00000416505POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-3CDSENST00000530566ENST00000519735POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-3CDSENST00000530566ENST00000520835POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-intronENST00000530566ENST00000379708POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-intronENST00000530566ENST00000518983POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-intronENST00000530566ENST00000522147POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-intronENST00000530566ENST00000522785POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-3CDSENST00000521492ENST00000520810POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-3CDSENST00000521492ENST00000416505POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-3CDSENST00000521492ENST00000519735POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-3CDSENST00000521492ENST00000520835POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-intronENST00000521492ENST00000379708POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-intronENST00000521492ENST00000518983POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-intronENST00000521492ENST00000522147POLBchr8

42202537

+IKBKBchr8

42166419

+
intron-intronENST00000521492ENST00000522785POLBchr8

42202537

+IKBKBchr8

42166419

+

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FusionProtFeatures for POLB_IKBKB


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

P06746

IKBKB

O14920

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}.

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
TgeneIKBKBchr8:42202537chr8:42166419ENST00000416505+521458_479130698RegionNote=Leucine-zipper
TgeneIKBKBchr8:42202537chr8:42166419ENST00000416505+521737_742130698RegionNote=NEMO-binding
TgeneIKBKBchr8:42202537chr8:42166419ENST00000519735+69458_479189257RegionNote=Leucine-zipper
TgeneIKBKBchr8:42202537chr8:42166419ENST00000519735+69737_742189257RegionNote=NEMO-binding
TgeneIKBKBchr8:42202537chr8:42166419ENST00000520810+622458_479189757RegionNote=Leucine-zipper
TgeneIKBKBchr8:42202537chr8:42166419ENST00000520810+622737_742189757RegionNote=NEMO-binding
TgeneIKBKBchr8:42202537chr8:42166419ENST00000520835+521458_479187755RegionNote=Leucine-zipper
TgeneIKBKBchr8:42202537chr8:42166419ENST00000520835+521737_742187755RegionNote=NEMO-binding

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePOLBchr8:42202537chr8:42166419ENST00000265421+314183_19262336RegionNote=DNA binding
TgeneIKBKBchr8:42202537chr8:42166419ENST00000416505+52115_300130698DomainProtein kinase
TgeneIKBKBchr8:42202537chr8:42166419ENST00000519735+6915_300189257DomainProtein kinase
TgeneIKBKBchr8:42202537chr8:42166419ENST00000520810+62215_300189757DomainProtein kinase
TgeneIKBKBchr8:42202537chr8:42166419ENST00000520835+52115_300187755DomainProtein kinase
TgeneIKBKBchr8:42202537chr8:42166419ENST00000416505+52121_29130698Nucleotide bindingATP
TgeneIKBKBchr8:42202537chr8:42166419ENST00000519735+6921_29189257Nucleotide bindingATP
TgeneIKBKBchr8:42202537chr8:42166419ENST00000520810+62221_29189757Nucleotide bindingATP
TgeneIKBKBchr8:42202537chr8:42166419ENST00000520835+52121_29187755Nucleotide bindingATP


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FusionGeneSequence for POLB_IKBKB


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 POLB_IKBKB


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
POLBTAF1D, 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, MMGT1IKBKBTRPC4AP, 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


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 POLB_IKBKB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePOLBP06746DB01592IronDNA polymerase betasmall moleculeapproved
HgenePOLBP06746DB00987CytarabineDNA polymerase betasmall moleculeapproved|investigational
TgeneIKBKBO14920DB00244MesalazineInhibitor of nuclear factor kappa-B kinase subunit betasmall moleculeapproved
TgeneIKBKBO14920DB00795SulfasalazineInhibitor of nuclear factor kappa-B kinase subunit betasmall moleculeapproved
TgeneIKBKBO14920DB00995AuranofinInhibitor of nuclear factor kappa-B kinase subunit betasmall moleculeapproved|investigational
TgeneIKBKBO14920DB01169Arsenic trioxideInhibitor of nuclear factor kappa-B kinase subunit betasmall moleculeapproved|investigational
TgeneIKBKBO14920DB06151AcetylcysteineInhibitor of nuclear factor kappa-B kinase subunit betasmall moleculeapproved|investigational
TgeneIKBKBO14920DB00945Acetylsalicylic acidInhibitor of nuclear factor kappa-B kinase subunit betasmall moleculeapproved|vet_approved

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RelatedDiseases for POLB_IKBKB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePOLBC0005695Bladder Neoplasm1CTD_human
HgenePOLBC0009375Colonic Neoplasms1CTD_human
HgenePOLBC0023434Chronic Lymphocytic Leukemia1CTD_human