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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for IKBKB

check button Gene summary
Gene informationGene symbol

IKBKB

Gene ID

3551

Gene nameinhibitor of nuclear factor kappa B kinase subunit beta
SynonymsIKK-beta|IKK2|IKKB|IMD15|IMD15A|IMD15B|NFKBIKB
Cytomap

8p11.21

Type of geneprotein-coding
Descriptioninhibitor of nuclear factor kappa-B kinase subunit betaI-kappa-B kinase 2I-kappa-B-kinase betainhibitor of kappa light polypeptide gene enhancer in B-cells, kinase betanuclear factor NF-kappa-B inhibitor kinase beta
Modification date20200313
UniProtAcc

A0A499FJS7,

A1L159,

B3KRB7,

E5RFG5,

E5RFT3,

E5RGA0,

E5RGW5,

E5RIW0,

E5RJH2,

G3V105,

J3KNS5,

O14920,

Q32ND9,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
IKBKB

GO:0006468

protein phosphorylation

15084260|20434986

IKBKB

GO:0018105

peptidyl-serine phosphorylation

21399639

IKBKB

GO:0042325

regulation of phosphorylation

26212789

IKBKB

GO:0045944

positive regulation of transcription by RNA polymerase II

23091055|23453807

IKBKB

GO:0051092

positive regulation of NF-kappaB transcription factor activity

15790681

IKBKB

GO:0071356

cellular response to tumor necrosis factor

23091055


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Gene structures and expression levels for IKBKB

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

ENSG00000104365
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBUPENST00000522785.1IKBKB-225:lncRNA:IKBKB1.495399e+011.169568e+004.281094e-162.924365e-13
CBUPENST00000518647.5IKBKB-208:retained_intron:IKBKB1.578185e+018.937163e-011.818367e-062.493722e-05
CBUPENST00000517388.5IKBKB-203:nonsense_mediated_decay:IKBKB2.467530e+001.042194e+006.218286e-067.049887e-05
CBDOWNENST00000416505.6IKBKB-202:protein_coding:IKBKB8.947698e+01-1.654646e+001.126217e-035.711550e-03
CBDOWNENST00000522147.4IKBKB-223:protein_coding:IKBKB3.900183e+01-2.063862e+005.579466e-032.155298e-02
CBUPENST00000517917.5IKBKB-207:retained_intron:IKBKB2.996793e+001.325884e+001.333173e-024.386386e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for IKBKB

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_127106chr842306368:42306432:42308901:42309025:42314322:4231442942308901:42309025
exon_skip_150696chr842316710:42316904:42317710:42317771:42318552:4231867542317710:42317771
exon_skip_161286chr842316710:42316904:42317657:42317771:42318552:4231867542317657:42317771
exon_skip_187297chr842271436:42271469:42272083:42272205:42290156:4229027342272083:42272205
exon_skip_221754chr842271318:42271469:42272083:42272205:42288634:4228872842272083:42272205
exon_skip_259640chr842272083:42272205:42290156:42290273:42293443:4229351242290156:42290273
exon_skip_284285chr842319270:42319421:42319585:42319646:42320735:4232084442319585:42319646
exon_skip_30544chr842271436:42271469:42288634:42288728:42290156:4229027342288634:42288728
exon_skip_32289chr842290156:42290273:42293443:42293568:42305187:4230523642293443:42293568
exon_skip_40618chr842272083:42272205:42288634:42288728:42290156:4229027342288634:42288728
exon_skip_52977chr842325972:42326097:42329124:42329214:42330914:4233106742329124:42329214
exon_skip_61533chr842271318:42271469:42288634:42288728:42290156:4229027342288634:42288728
exon_skip_61720chr842271436:42271469:42272083:42272205:42288634:4228872842272083:42272205
exon_skip_65258chr842320735:42320844:42321896:42321945:42322054:4232215342321896:42321945
exon_skip_69871chr842290156:42290273:42293443:42293512:42305187:4230523642293443:42293512
exon_skip_83465chr842325970:42326097:42329124:42329214:42330914:4233106742329124:42329214

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_284285Mayo_CB4.214634e-015.225974e-01-1.011340e-012.943130e-06


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Open reading frame (ORF) annotation in the exon skipping event for IKBKB

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005208104228863442288728Frame-shift
ENST000005208104230890142309025Frame-shift
ENST000005208104231958542319646Frame-shift
ENST000005208104232912442329214Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005208104228863442288728Frame-shift
ENST000005208104230890142309025Frame-shift
ENST000005208104231958542319646Frame-shift
ENST000005208104232912442329214Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005208104228863442288728Frame-shift
ENST000005208104229344342293512Frame-shift
ENST000005208104230890142309025Frame-shift
ENST000005208104231765742317771Frame-shift
ENST000005208104231958542319646Frame-shift
ENST000005208104232189642321945Frame-shift
ENST000005208104232912442329214Frame-shift

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Infer the effects of exon skipping event on protein functional features for IKBKB

p-ENSG00000104365_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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3'-UTR located exon skipping events that lost miRNA binding sites in IKBKB

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for IKBKB

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for IKBKB

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IKBKB

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for IKBKB

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTARDBPexon_skip_127106-4.048426e-011.448012e-07
CBCNOT4exon_skip_127106-4.703762e-015.099936e-10
CBPCBP4exon_skip_1271065.592433e-012.684307e-14
CBRBM45exon_skip_1271066.718151e-015.912931e-22
CBRBM4exon_skip_127106-7.224349e-011.278266e-26
CBSRSF4exon_skip_284285-5.252414e-011.178257e-12
CBRBM4exon_skip_284285-6.476838e-012.799271e-20
CBRBM4Bexon_skip_284285-4.863794e-018.044937e-11
CBTARDBPexon_skip_52977-4.688262e-014.584889e-10
CBTRA2Aexon_skip_52977-6.204303e-012.733460e-18
CBSNRPAexon_skip_52977-4.008887e-011.636960e-07
CBRBM45exon_skip_529777.225298e-015.936721e-27
TCRBM4exon_skip_127106-4.655816e-011.032719e-09

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RelatedDrugs for IKBKB

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
O14920approvedDB00244Mesalazinesmall moleculeO14920
O14920approvedDB00795Sulfasalazinesmall moleculeO14920
O14920approved|vet_approvedDB00945Acetylsalicylic acidsmall moleculeO14920
O14920approved|investigationalDB00995Auranofinsmall moleculeO14920
O14920approved|investigationalDB01169Arsenic trioxidesmall moleculeO14920
O14920approved|investigationalDB06151Acetylcysteinesmall moleculeO14920
O14920approved|investigationalDB12010Fostamatinibsmall moleculeO14920

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RelatedDiseases for IKBKB

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource