ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for IKBKB

Gene summary

Gene information	Gene symbol	IKBKB
	Gene ID	3551
	Gene name	inhibitor of nuclear factor kappa B kinase subunit beta
	Synonyms	IKK-beta\|IKK2\|IKKB\|IMD15\|NFKBIKB
	Cytomap	8p11.21
	Type of gene	protein-coding
	Description	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
	UniProtAcc	O14920
	Context	PubMed: IKBKB [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed 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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Exon skipping events across known transcript of Ensembl for IKBKB from UCSC genome browser

Skipped exons in TCGA and GTEx 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.

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Gene isoform structures and expression levels for IKBKB

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for IKBKB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_483201	8	42128953:42128987:42129600:42129723:42146151:42146246	42129600:42129723	ENSG00000104365.9	ENST00000519735.1,ENST00000521661.1,ENST00000342222.2,ENST00000518647.1
exon_skip_483203	8	42128953:42128987:42129600:42129723:42147673:42147791	42129600:42129723	ENSG00000104365.9	ENST00000520201.1,ENST00000517890.1,ENST00000520320.1,ENST00000517388.1,ENST00000416505.2,ENST00000523105.1
exon_skip_483204	8	42128953:42128987:42146151:42146246:42147673:42147791	42146151:42146246	ENSG00000104365.9	ENST00000520835.1
exon_skip_483207	8	42129600:42129723:42146151:42146246:42147673:42147791	42146151:42146246	ENSG00000104365.9	ENST00000519735.1,ENST00000520655.1,ENST00000521661.1,ENST00000342222.2,ENST00000518647.1,ENST00000520810.1,ENST00000523517.1
exon_skip_483209	8	42129600:42129723:42147673:42147791:42150960:42151030	42147673:42147791	ENSG00000104365.9	ENST00000520201.1,ENST00000517890.1,ENST00000520320.1,ENST00000517388.1,ENST00000517812.1,ENST00000416505.2,ENST00000523105.1
exon_skip_483217	8	42147673:42147791:42150960:42151030:42162704:42162754	42150960:42151030	ENSG00000104365.9	ENST00000520201.1,ENST00000520835.1,ENST00000519735.1,ENST00000520655.1,ENST00000517890.1,ENST00000517388.1,ENST00000517812.1,ENST00000416505.2,ENST00000523105.1,ENST00000521661.1,ENST00000518647.1,ENST00000520810.1,ENST00000523517.1
exon_skip_483218	8	42147673:42147791:42150960:42151086:42162704:42162754	42150960:42151086	ENSG00000104365.9	ENST00000520320.1,ENST00000342222.2
exon_skip_483219	8	42162704:42162793:42163860:42163950:42166418:42166450	42163860:42163950	ENSG00000104365.9	ENST00000520201.1,ENST00000517917.1,ENST00000520835.1,ENST00000519735.1,ENST00000520655.1,ENST00000517890.1,ENST00000416505.2,ENST00000523105.1,ENST00000521661.1,ENST00000342222.2,ENST00000518647.1,ENST00000520810.1,ENST00000523517.1
exon_skip_483221	8	42162704:42162793:42163885:42163950:42166418:42166450	42163885:42163950	ENSG00000104365.9	ENST00000519733.1,ENST00000517388.1
exon_skip_483226	8	42163885:42163950:42166418:42166543:42171839:42171947	42166418:42166543	ENSG00000104365.9	ENST00000520201.1,ENST00000517917.1,ENST00000520835.1,ENST00000520655.1,ENST00000517890.1,ENST00000416505.2,ENST00000523105.1,ENST00000521661.1,ENST00000342222.2,ENST00000518647.1,ENST00000520810.1,ENST00000523517.1
exon_skip_483227	8	42166418:42166543:42171839:42171947:42173727:42173774	42171839:42171947	ENSG00000104365.9	ENST00000520201.1,ENST00000517917.1,ENST00000520835.1,ENST00000520655.1,ENST00000517890.1,ENST00000416505.2,ENST00000523105.1,ENST00000521661.1,ENST00000342222.2,ENST00000518647.1,ENST00000520810.1,ENST00000523517.1
exon_skip_483228	8	42174227:42174422:42175174:42175289:42176069:42176193	42175174:42175289	ENSG00000104365.9	ENST00000520201.1,ENST00000517917.1,ENST00000520835.1,ENST00000520655.1,ENST00000517890.1,ENST00000518679.1,ENST00000379708.3,ENST00000416505.2,ENST00000523105.1,ENST00000521661.1,ENST00000342222.2,ENST00000520810.1
exon_skip_483229	8	42174227:42174422:42175227:42175289:42176069:42176193	42175227:42175289	ENSG00000104365.9	ENST00000523517.1
exon_skip_483232	8	42176787:42176939:42177102:42177164:42178252:42178362	42177102:42177164	ENSG00000104365.9	ENST00000520835.1,ENST00000517890.1,ENST00000518679.1,ENST00000379708.3,ENST00000416505.2,ENST00000342222.2,ENST00000520810.1,ENST00000523517.1
exon_skip_483254	8	42183489:42183615:42186641:42186732:42188431:42188582	42186641:42186732	ENSG00000104365.9	ENST00000520201.1,ENST00000520835.1,ENST00000520655.1,ENST00000517890.1,ENST00000518679.1,ENST00000379708.3,ENST00000416505.2,ENST00000342222.2,ENST00000520810.1,ENST00000522103.1,ENST00000523517.1,ENST00000519938.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for IKBKB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_483201	8	42128953:42128987:42129600:42129723:42146151:42146246	42129600:42129723	ENSG00000104365.9	ENST00000519735.1,ENST00000342222.2,ENST00000518647.1,ENST00000521661.1
exon_skip_483203	8	42128953:42128987:42129600:42129723:42147673:42147791	42129600:42129723	ENSG00000104365.9	ENST00000520320.1,ENST00000517890.1,ENST00000416505.2,ENST00000523105.1,ENST00000520201.1,ENST00000517388.1
exon_skip_483204	8	42128953:42128987:42146151:42146246:42147673:42147791	42146151:42146246	ENSG00000104365.9	ENST00000520835.1
exon_skip_483207	8	42129600:42129723:42146151:42146246:42147673:42147791	42146151:42146246	ENSG00000104365.9	ENST00000520810.1,ENST00000519735.1,ENST00000342222.2,ENST00000518647.1,ENST00000521661.1,ENST00000520655.1,ENST00000523517.1
exon_skip_483209	8	42129600:42129723:42147673:42147791:42150960:42151030	42147673:42147791	ENSG00000104365.9	ENST00000520320.1,ENST00000517890.1,ENST00000416505.2,ENST00000523105.1,ENST00000520201.1,ENST00000517388.1,ENST00000517812.1
exon_skip_483217	8	42147673:42147791:42150960:42151030:42162704:42162754	42150960:42151030	ENSG00000104365.9	ENST00000520810.1,ENST00000517890.1,ENST00000416505.2,ENST00000519735.1,ENST00000523105.1,ENST00000520835.1,ENST00000520201.1,ENST00000517388.1,ENST00000518647.1,ENST00000521661.1,ENST00000520655.1,ENST00000517812.1,ENST00000523517.1
exon_skip_483218	8	42147673:42147791:42150960:42151086:42162704:42162754	42150960:42151086	ENSG00000104365.9	ENST00000520320.1,ENST00000342222.2
exon_skip_483219	8	42162704:42162793:42163860:42163950:42166418:42166450	42163860:42163950	ENSG00000104365.9	ENST00000520810.1,ENST00000517890.1,ENST00000416505.2,ENST00000519735.1,ENST00000523105.1,ENST00000520835.1,ENST00000517917.1,ENST00000342222.2,ENST00000520201.1,ENST00000518647.1,ENST00000521661.1,ENST00000520655.1,ENST00000523517.1
exon_skip_483221	8	42162704:42162793:42163885:42163950:42166418:42166450	42163885:42163950	ENSG00000104365.9	ENST00000519733.1,ENST00000517388.1
exon_skip_483226	8	42163885:42163950:42166418:42166543:42171839:42171947	42166418:42166543	ENSG00000104365.9	ENST00000520810.1,ENST00000517890.1,ENST00000416505.2,ENST00000523105.1,ENST00000520835.1,ENST00000517917.1,ENST00000342222.2,ENST00000520201.1,ENST00000518647.1,ENST00000521661.1,ENST00000520655.1,ENST00000523517.1
exon_skip_483227	8	42166418:42166543:42171839:42171947:42173727:42173774	42171839:42171947	ENSG00000104365.9	ENST00000520810.1,ENST00000517890.1,ENST00000416505.2,ENST00000523105.1,ENST00000520835.1,ENST00000517917.1,ENST00000342222.2,ENST00000520201.1,ENST00000518647.1,ENST00000521661.1,ENST00000520655.1,ENST00000523517.1
exon_skip_483228	8	42174227:42174422:42175174:42175289:42176069:42176193	42175174:42175289	ENSG00000104365.9	ENST00000520810.1,ENST00000517890.1,ENST00000416505.2,ENST00000523105.1,ENST00000520835.1,ENST00000517917.1,ENST00000518679.1,ENST00000379708.3,ENST00000342222.2,ENST00000520201.1,ENST00000521661.1,ENST00000520655.1
exon_skip_483229	8	42174227:42174422:42175227:42175289:42176069:42176193	42175227:42175289	ENSG00000104365.9	ENST00000523517.1
exon_skip_483232	8	42176787:42176939:42177102:42177164:42178252:42178362	42177102:42177164	ENSG00000104365.9	ENST00000520810.1,ENST00000517890.1,ENST00000416505.2,ENST00000520835.1,ENST00000518679.1,ENST00000379708.3,ENST00000342222.2,ENST00000523517.1
exon_skip_483254	8	42183489:42183615:42186641:42186732:42188431:42188582	42186641:42186732	ENSG00000104365.9	ENST00000520810.1,ENST00000517890.1,ENST00000416505.2,ENST00000520835.1,ENST00000518679.1,ENST00000379708.3,ENST00000342222.2,ENST00000520201.1,ENST00000520655.1,ENST00000523517.1,ENST00000519938.1,ENST00000522103.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000520810	42146151	42146246	Frame-shift
ENST00000520810	42150960	42151030	Frame-shift
ENST00000520810	42166418	42166543	Frame-shift
ENST00000520810	42175174	42175289	Frame-shift
ENST00000520810	42177102	42177164	Frame-shift
ENST00000520810	42186641	42186732	Frame-shift
ENST00000520810	42163860	42163950	In-frame
ENST00000520810	42171839	42171947	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000520810	42146151	42146246	Frame-shift
ENST00000520810	42150960	42151030	Frame-shift
ENST00000520810	42166418	42166543	Frame-shift
ENST00000520810	42175174	42175289	Frame-shift
ENST00000520810	42177102	42177164	Frame-shift
ENST00000520810	42186641	42186732	Frame-shift
ENST00000520810	42163860	42163950	In-frame
ENST00000520810	42171839	42171947	In-frame

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

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000520810	3103	756	42163860	42163950	664	753	159	189
ENST00000520810	3103	756	42171839	42171947	879	986	231	266

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000520810	3103	756	42163860	42163950	664	753	159	189
ENST00000520810	3103	756	42171839	42171947	879	986	231	266

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
O14920	159	189	157	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	159	189	1	756	Chain	ID=PRO_0000086013;Note=Inhibitor of nuclear factor kappa-B kinase subunit beta
O14920	159	189	163	163	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16267042;Dbxref=PMID:16267042
O14920	159	189	15	300	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O14920	159	189	182	185	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	159	189	177	177	Modified residue	Note=Phosphoserine%3B by TBK1 and PKC/PRKCZ;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10022904,ECO:0000269\|PubMed:10195894,ECO:0000269\|PubMed:10783893;Dbxref=PMID:10022904,PMID:10195894,PMID:10783893
O14920	159	189	179	179	Modified residue	Note=S-nitrosocysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15184672;Dbxref=PMID:15184672
O14920	159	189	180	180	Modified residue	Note=O-acetylthreonine%3B by Yersinia yopJ;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17116858;Dbxref=PMID:17116858
O14920	159	189	181	181	Modified residue	Note=Phosphoserine%3B by TBK1%2C PKC/PRKCZ and PDPK1;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10022904,ECO:0000269\|PubMed:10195894,ECO:0000269\|PubMed:10783893,ECO:0000269\|PubMed:16207722;Dbxref=PMID:1002290
O14920	159	189	163	163	Mutagenesis	Note=Monoubiquitinated%3B when associated with E-177 and E-181. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19675099;Dbxref=PMID:19675099
O14920	159	189	177	181	Mutagenesis	Note=COmplete loss of TBK1-mediated phosphorylation. SLCTS->ALCTA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10783893;Dbxref=PMID:10783893
O14920	159	189	177	177	Mutagenesis	Note=Decrease of activity. S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19675099,ECO:0000269\|PubMed:9346484;Dbxref=PMID:19675099,PMID:9346484
O14920	159	189	177	177	Mutagenesis	Note=Full activation. Interaction with TRIM21 is enhanced%3B when associated with E-181. Monoubiquitinated%3B when associated with R-163 and E-181. Strongly promoted NF-kappa-B gene expression%3B when associated with E-181. S->E;Ontology_term=ECO:0000269,
O14920	159	189	181	181	Mutagenesis	Note=Decrease of activity. S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19675099,ECO:0000269\|PubMed:9346484;Dbxref=PMID:19675099,PMID:9346484
O14920	159	189	181	181	Mutagenesis	Note=Full activation. Interaction with TRIM21 is enhanced%3B when associated with E-177. Monoubiquitinated%3B when associated with R-163 and E-177. Strongly promoted NF-kappa-B gene expression%3B when associated with E-177. S->E;Ontology_term=ECO:0000269,
O14920	159	189	186	188	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	231	266	231	256	Alternative sequence	ID=VSP_041826;Note=In isoform 3. WHSKVRQKSEVDIVVSEDLNGTVKFS->CVRMWPGTVAHSCNPSTLGGRGRWIS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14920	231	266	257	756	Alternative sequence	ID=VSP_041827;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14920	231	266	244	247	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	231	266	253	258	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	231	266	1	756	Chain	ID=PRO_0000086013;Note=Inhibitor of nuclear factor kappa-B kinase subunit beta
O14920	231	266	15	300	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O14920	231	266	228	235	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	231	266	259	259	Sequence conflict	Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14920	231	266	259	259	Sequence conflict	Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
O14920	159	189	157	164	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	159	189	1	756	Chain	ID=PRO_0000086013;Note=Inhibitor of nuclear factor kappa-B kinase subunit beta
O14920	159	189	163	163	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16267042;Dbxref=PMID:16267042
O14920	159	189	15	300	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O14920	159	189	182	185	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	159	189	177	177	Modified residue	Note=Phosphoserine%3B by TBK1 and PKC/PRKCZ;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10022904,ECO:0000269\|PubMed:10195894,ECO:0000269\|PubMed:10783893;Dbxref=PMID:10022904,PMID:10195894,PMID:10783893
O14920	159	189	179	179	Modified residue	Note=S-nitrosocysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15184672;Dbxref=PMID:15184672
O14920	159	189	180	180	Modified residue	Note=O-acetylthreonine%3B by Yersinia yopJ;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17116858;Dbxref=PMID:17116858
O14920	159	189	181	181	Modified residue	Note=Phosphoserine%3B by TBK1%2C PKC/PRKCZ and PDPK1;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10022904,ECO:0000269\|PubMed:10195894,ECO:0000269\|PubMed:10783893,ECO:0000269\|PubMed:16207722;Dbxref=PMID:1002290
O14920	159	189	163	163	Mutagenesis	Note=Monoubiquitinated%3B when associated with E-177 and E-181. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19675099;Dbxref=PMID:19675099
O14920	159	189	177	181	Mutagenesis	Note=COmplete loss of TBK1-mediated phosphorylation. SLCTS->ALCTA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10783893;Dbxref=PMID:10783893
O14920	159	189	177	177	Mutagenesis	Note=Decrease of activity. S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19675099,ECO:0000269\|PubMed:9346484;Dbxref=PMID:19675099,PMID:9346484
O14920	159	189	177	177	Mutagenesis	Note=Full activation. Interaction with TRIM21 is enhanced%3B when associated with E-181. Monoubiquitinated%3B when associated with R-163 and E-181. Strongly promoted NF-kappa-B gene expression%3B when associated with E-181. S->E;Ontology_term=ECO:0000269,
O14920	159	189	181	181	Mutagenesis	Note=Decrease of activity. S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19675099,ECO:0000269\|PubMed:9346484;Dbxref=PMID:19675099,PMID:9346484
O14920	159	189	181	181	Mutagenesis	Note=Full activation. Interaction with TRIM21 is enhanced%3B when associated with E-177. Monoubiquitinated%3B when associated with R-163 and E-177. Strongly promoted NF-kappa-B gene expression%3B when associated with E-177. S->E;Ontology_term=ECO:0000269,
O14920	159	189	186	188	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	231	266	231	256	Alternative sequence	ID=VSP_041826;Note=In isoform 3. WHSKVRQKSEVDIVVSEDLNGTVKFS->CVRMWPGTVAHSCNPSTLGGRGRWIS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14920	231	266	257	756	Alternative sequence	ID=VSP_041827;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14920	231	266	244	247	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	231	266	253	258	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	231	266	1	756	Chain	ID=PRO_0000086013;Note=Inhibitor of nuclear factor kappa-B kinase subunit beta
O14920	231	266	15	300	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O14920	231	266	228	235	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KIK
O14920	231	266	259	259	Sequence conflict	Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14920	231	266	259	259	Sequence conflict	Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for IKBKB

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_483219 exon_skip_483221	42163861	42163950	42163932	42163932	Frame_Shift_Del	G	-	p.V183fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_483219 exon_skip_483221	42163886	42163950	42163932	42163932	Frame_Shift_Del	G	-	p.V183fs
BLCA	TCGA-E7-A6MD-01	exon_skip_483227	42171840	42171947	42171858	42171885	Frame_Shift_Del	GAAGAGTGAGGTGGACATTGTTGTTAGC	-	p.QKSEVDIVVS237fs
LIHC	TCGA-DD-A3A0-01	exon_skip_483228	42175175	42175289	42175209	42175209	Frame_Shift_Del	T	-	p.V387fs
PAAD	TCGA-HZ-A8P1-01	exon_skip_483203 exon_skip_483201	42129601	42129723	42129663	42129663	Nonsense_Mutation	G	A	p.W15*
PAAD	TCGA-HZ-A8P1-01	exon_skip_483203 exon_skip_483201	42129601	42129723	42129663	42129663	Nonsense_Mutation	G	A	p.W15X
STAD	TCGA-BR-4370-01	exon_skip_483203 exon_skip_483201	42129601	42129723	42129709	42129709	Nonsense_Mutation	C	T	p.R31*
STAD	TCGA-BR-4370-01	exon_skip_483203 exon_skip_483201	42129601	42129723	42129709	42129709	Nonsense_Mutation	C	T	p.R31X
UCEC	TCGA-D1-A167-01	exon_skip_483226	42166419	42166543	42166539	42166539	Nonsense_Mutation	C	T	p.Q230*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
HEC108_ENDOMETRIUM	42129601	42129723	42129688	42129688	Frame_Shift_Del	G	-	p.G25fs
J82_MATCHED_NORMAL_TISSUE	42129601	42129723	42129641	42129641	Missense_Mutation	C	G	p.T8R
J82_URINARY_TRACT	42129601	42129723	42129641	42129641	Missense_Mutation	C	G	p.T8R
SNU1040_LARGE_INTESTINE	42129601	42129723	42129677	42129677	Missense_Mutation	G	A	p.R20H
22RV1_PROSTATE	42146152	42146246	42146215	42146215	Missense_Mutation	C	T	p.R57W
SARC9371_BONE	42147674	42147791	42147712	42147712	Missense_Mutation	C	T	p.P80L
HCC78_LUNG	42147674	42147791	42147741	42147741	Missense_Mutation	G	A	p.D90N
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42163861	42163950	42163894	42163894	Missense_Mutation	A	G	p.K171E
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42163886	42163950	42163894	42163894	Missense_Mutation	A	G	p.K171E
HCC1569_BREAST	42166419	42166543	42166447	42166447	Missense_Mutation	A	G	p.Y199C
JHUEM2_ENDOMETRIUM	42166419	42166543	42166533	42166533	Missense_Mutation	C	T	p.P228S
SISO_CERVIX	42171840	42171947	42171863	42171863	Missense_Mutation	G	C	p.S239T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42171840	42171947	42171863	42171863	Missense_Mutation	G	C	p.S239T
SISO_CERVIX	42171840	42171947	42171871	42171871	Missense_Mutation	G	A	p.D242N
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42171840	42171947	42171871	42171871	Missense_Mutation	G	A	p.D242N
YD8_UPPER_AERODIGESTIVE_TRACT	42175175	42175289	42175185	42175185	Missense_Mutation	G	T	p.G379V
C10_LARGE_INTESTINE	42175175	42175289	42175260	42175260	Missense_Mutation	G	A	p.R404Q
C10_LARGE_INTESTINE	42175228	42175289	42175260	42175260	Missense_Mutation	G	A	p.R404Q
SW872_SOFT_TISSUE	42175175	42175289	42175287	42175287	Missense_Mutation	T	G	p.I413S
SW872_SOFT_TISSUE	42175228	42175289	42175287	42175287	Missense_Mutation	T	G	p.I413S
TE125T_FIBROBLAST	42186642	42186732	42186712	42186712	Missense_Mutation	G	C	p.E729Q
TGBC11TKB_STOMACH	42146152	42146246	42146209	42146209	Nonsense_Mutation	C	T	p.R55*
ME180_CERVIX	42177103	42177164	42177106	42177106	Nonsense_Mutation	C	G	p.S507*
SF767_CENTRAL_NERVOUS_SYSTEM	42177103	42177164	42177106	42177106	Nonsense_Mutation	C	G	p.S507*

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

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IKBKB

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IKBKB

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RelatedDrugs for IKBKB

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
	O14920	DB00244	Mesalazine	Inhibitor of nuclear factor kappa-B kinase subunit beta	small molecule	approved
	O14920	DB00795	Sulfasalazine	Inhibitor of nuclear factor kappa-B kinase subunit beta	small molecule	approved
	O14920	DB00995	Auranofin	Inhibitor of nuclear factor kappa-B kinase subunit beta	small molecule	approved\|investigational
	O14920	DB01169	Arsenic trioxide	Inhibitor of nuclear factor kappa-B kinase subunit beta	small molecule	approved\|investigational
	O14920	DB06151	Acetylcysteine	Inhibitor of nuclear factor kappa-B kinase subunit beta	small molecule	approved\|investigational
	O14920	DB12010	Fostamatinib	Inhibitor of nuclear factor kappa-B kinase subunit beta	small molecule	approved\|investigational
	O14920	DB00945	Acetylsalicylic acid	Inhibitor of nuclear factor kappa-B kinase subunit beta	small molecule	approved\|vet_approved

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RelatedDiseases for IKBKB

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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