mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for IKBKB
Gene summary
Basic gene Info.Gene symbolIKBKB
Gene nameinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
SynonymsIKK-beta|IKK2|IKKB|IMD15|NFKBIKB
CytomapUCSC genome browser: 8p11.2
Type of geneprotein-coding
RefGenesNM_001190720.2,
NM_001242778.1,NM_001556.2,NR_033818.1,NR_033819.1,
NR_040009.1,NM_001190721.1,NM_001190722.1,
DescriptionI-kappa-B kinase 2I-kappa-B-kinase betaIKK-Binhibitor of nuclear factor kappa-B kinase subunit betanuclear factor NF-kappa-B inhibitor kinase beta
Modification date20141222
dbXrefs MIM : 603258
HGNC : HGNC
Ensembl : ENSG00000104365
HPRD : 04462
Vega : OTTHUMG00000164092
ProteinUniProt: O14920
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IKBKB
BioGPS: 3551
PathwayNCI Pathway Interaction Database: IKBKB
KEGG: IKBKB
REACTOME: IKBKB
Pathway Commons: IKBKB
ContextiHOP: IKBKB
ligand binding site mutation search in PubMed: IKBKB
UCL Cancer Institute: IKBKB
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006468protein phosphorylation20434986
GO:0042501serine phosphorylation of STAT protein21399639
GO:0045944positive regulation of transcription from RNA polymerase II promoter23091055
GO:0051092positive regulation of NF-kappaB transcription factor activity15790681
GO:0071356cellular response to tumor necrosis factor23091055


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Ligand binding site mutations for IKBKB

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D166D166HLUAD1
M96A95VSKCM1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for IKBKB
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
D166D166H-1.3846826
M96A95V-0.66323999
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for IKBKB from PDB

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Differential gene expression and gene-gene network for IKBKB
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of IKBKB and the right PPI network was created from samples without mutations in the LBS of IKBKB. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for IKBKB
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for IKBKB
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00244MesalazineSmall molecule
ApprovedDB00795SulfasalazineSmall molecule
Approved|vet_approvedDB00945Acetylsalicylic acidSmall molecule
ApprovedDB00995AuranofinSmall molecule
Approved|investigationalDB01169Arsenic trioxideSmall molecule
InvestigationalDB05183MLN0415Small molecule
ApprovedDB06151AcetylcysteineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IKBKB go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
KSAK-252A4kikAM96 D166
KSAK-252A4kikBM96 D166


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Conservation information for LBS of IKBKB
Multiple alignments for O14920 in multiple species
LBSAA sequence# speciesSpecies
A42TGEQIAIKQCR3Homo sapiens, Rattus norvegicus, Bos taurus
C99LAMEYCQGGDL3Homo sapiens, Rattus norvegicus, Bos taurus
D166IHKIIDLGYAK3Homo sapiens, Rattus norvegicus, Bos taurus
E149RDLKPENIVLQ3Homo sapiens, Rattus norvegicus, Bos taurus
E97PLLAMEYCQGG3Homo sapiens, Rattus norvegicus, Bos taurus
G102EYCQGGDLRKY2Homo sapiens, Bos taurus
G102EYCQGGDLRRY1Rattus norvegicus
G22MKERLGTGGFG3Homo sapiens, Rattus norvegicus, Bos taurus
I165LIHKIIDLGYA3Homo sapiens, Rattus norvegicus, Bos taurus
K44EQIAIKQCRQE3Homo sapiens, Rattus norvegicus, Bos taurus
L21EMKERLGTGGF3Homo sapiens, Rattus norvegicus, Bos taurus
M96LPLLAMEYCQG3Homo sapiens, Rattus norvegicus, Bos taurus
V152KPENIVLQQGE3Homo sapiens, Rattus norvegicus, Bos taurus
V29GGFGNVIRWHN3Homo sapiens, Rattus norvegicus, Bos taurus
Y98LLAMEYCQGGD3Homo sapiens, Rattus norvegicus, Bos taurus


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