ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for IL18

Gene summary

Gene information	Gene symbol	IL18
	Gene ID	3606
	Gene name	interleukin 18
	Synonyms	IGIF\|IL-18\|IL-1g\|IL1F4
	Cytomap	11q23.1
	Type of gene	protein-coding
	Description	interleukin-18IFN-gamma-inducing factorIL-1 gammaiboctadekininterleukin 18 (interferon-gamma-inducing factor)interleukin-1 gamma
	Modification date	20180527
	UniProtAcc	Q14116
	Context	PubMed: IL18 [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
IL18	GO:0001525	angiogenesis	11466388
IL18	GO:0006954	inflammatory response	21147091
IL18	GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	21321938
IL18	GO:0030155	regulation of cell adhesion	11477102
IL18	GO:0031663	lipopolysaccharide-mediated signaling pathway	21147091
IL18	GO:0032148	activation of protein kinase B activity	21321938
IL18	GO:0032725	positive regulation of granulocyte macrophage colony-stimulating factor production	20027291
IL18	GO:0032729	positive regulation of interferon-gamma production	10653850\|14528293\|19088061\|20027291
IL18	GO:0032740	positive regulation of interleukin-17 production	16482511
IL18	GO:0032819	positive regulation of natural killer cell proliferation	19088061
IL18	GO:0035655	interleukin-18-mediated signaling pathway	21321938\|25500532
IL18	GO:0042088	T-helper 1 type immune response	8766574
IL18	GO:0042104	positive regulation of activated T cell proliferation	8766574
IL18	GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	10903731
IL18	GO:0045944	positive regulation of transcription by RNA polymerase II	24615654
IL18	GO:0048661	positive regulation of smooth muscle cell proliferation	21321938
IL18	GO:0051092	positive regulation of NF-kappaB transcription factor activity	25500532
IL18	GO:0051142	positive regulation of NK T cell proliferation	19088061
IL18	GO:0051897	positive regulation of protein kinase B signaling	21321938
IL18	GO:0071407	cellular response to organic cyclic compound	21147091
IL18	GO:2000556	positive regulation of T-helper 1 cell cytokine production	10653850

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Exon skipping events across known transcript of Ensembl for IL18 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 IL18

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 IL18

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_77391	11	112019325:112019459:112020794:112020929:112024314:112024326	112020794:112020929	ENSG00000150782.7	ENST00000528832.1,ENST00000280357.7
exon_skip_77392	11	112019325:112019459:112020794:112020929:112025697:112025784	112020794:112020929	ENSG00000150782.7	ENST00000524595.1
exon_skip_77406	11	112020794:112020929:112021719:112021795:112025697:112025784	112021719:112021795	ENSG00000150782.7	ENST00000533858.1
exon_skip_77410	11	112020794:112020929:112024314:112024326:112025697:112025784	112024314:112024326	ENSG00000150782.7	ENST00000528832.1,ENST00000280357.7
exon_skip_77412	11	112020794:112020929:112025697:112025784:112034628:112034797	112025697:112025784	ENSG00000150782.7	ENST00000524595.1
exon_skip_77416	11	112024314:112024326:112025697:112025784:112034628:112034797	112025697:112025784	ENSG00000150782.7	ENST00000534225.1
exon_skip_77417	11	112024314:112024326:112025697:112025805:112034628:112034797	112025697:112025805	ENSG00000150782.7	ENST00000528832.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for IL18

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_77391	11	112019325:112019459:112020794:112020929:112024314:112024326	112020794:112020929	ENSG00000150782.7	ENST00000280357.7,ENST00000528832.1
exon_skip_77392	11	112019325:112019459:112020794:112020929:112025697:112025784	112020794:112020929	ENSG00000150782.7	ENST00000524595.1
exon_skip_77406	11	112020794:112020929:112021719:112021795:112025697:112025784	112021719:112021795	ENSG00000150782.7	ENST00000533858.1
exon_skip_77410	11	112020794:112020929:112024314:112024326:112025697:112025784	112024314:112024326	ENSG00000150782.7	ENST00000280357.7,ENST00000528832.1
exon_skip_77412	11	112020794:112020929:112025697:112025784:112034628:112034797	112025697:112025784	ENSG00000150782.7	ENST00000524595.1
exon_skip_77416	11	112024314:112024326:112025697:112025784:112034628:112034797	112025697:112025784	ENSG00000150782.7	ENST00000534225.1
exon_skip_77417	11	112024314:112024326:112025697:112025805:112034628:112034797	112025697:112025805	ENSG00000150782.7	ENST00000528832.1

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 IL18

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
ENST00000528832	112025697	112025805	3UTR-3CDS
ENST00000280357	112020794	112020929	In-frame
ENST00000528832	112020794	112020929	In-frame
ENST00000280357	112024314	112024326	In-frame
ENST00000528832	112024314	112024326	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
ENST00000528832	112025697	112025805	3UTR-3CDS
ENST00000280357	112020794	112020929	In-frame
ENST00000528832	112020794	112020929	In-frame
ENST00000280357	112024314	112024326	In-frame
ENST00000528832	112024314	112024326	In-frame

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Infer the effects of exon skipping event on protein functional features for IL18

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
ENST00000280357	1164	193	112020794	112020929	312	446	30	75
ENST00000528832	812	193	112020794	112020929	305	439	30	75

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
ENST00000280357	1164	193	112020794	112020929	312	446	30	75
ENST00000528832	812	193	112020794	112020929	305	439	30	75

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
Q14116	30	75	27	30	Alternative sequence	ID=VSP_044934;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15326478;Dbxref=PMID:15326478
Q14116	30	75	27	30	Alternative sequence	ID=VSP_044934;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15326478;Dbxref=PMID:15326478
Q14116	30	75	42	49	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	42	49	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	55	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	55	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	64	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	64	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	37	193	Chain	ID=PRO_0000015344;Note=Interleukin-18
Q14116	30	75	37	193	Chain	ID=PRO_0000015344;Note=Interleukin-18
Q14116	30	75	71	76	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	71	76	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	40	40	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	40	40	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	41	41	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	41	41	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	44	44	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	44	44	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	49	49	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	49	49	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	53	53	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	53	53	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	69	69	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	69	69	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	71	71	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	71	71	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	1	36	Propeptide	ID=PRO_0000015343;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14116	30	75	1	36	Propeptide	ID=PRO_0000015343;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14116	30	75	66	66	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14116	30	75	66	66	Sequence conflict	Note=F->L;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
Q14116	30	75	27	30	Alternative sequence	ID=VSP_044934;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15326478;Dbxref=PMID:15326478
Q14116	30	75	27	30	Alternative sequence	ID=VSP_044934;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15326478;Dbxref=PMID:15326478
Q14116	30	75	42	49	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	42	49	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	55	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	55	58	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	64	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	64	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	37	193	Chain	ID=PRO_0000015344;Note=Interleukin-18
Q14116	30	75	37	193	Chain	ID=PRO_0000015344;Note=Interleukin-18
Q14116	30	75	71	76	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	71	76	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VXT
Q14116	30	75	40	40	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	40	40	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	41	41	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	41	41	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	44	44	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	44	44	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	49	49	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	49	49	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	53	53	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	53	53	Mutagenesis	Note=Reduces binding to IL18R1 and the ability to induce IFNG production. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	69	69	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	69	69	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	71	71	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	71	71	Mutagenesis	Note=Impairs binding to IL18R1 and the ability to induce IFNG production. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14528293;Dbxref=PMID:14528293
Q14116	30	75	1	36	Propeptide	ID=PRO_0000015343;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14116	30	75	1	36	Propeptide	ID=PRO_0000015343;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14116	30	75	66	66	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14116	30	75	66	66	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for IL18

- 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-DD-A3A1-01	exon_skip_77392 exon_skip_77391	112020795	112020929	112020884	112020884	Nonsense_Mutation	G	C	p.S46X

- 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
MDAMB415_BREAST	112020795	112020929	112020810	112020810	Missense_Mutation	C	G	p.D71H
HARA_LUNG	112024315	112024326	112024324	112024324	Missense_Mutation	C	T	p.E28K
639V_URINARY_TRACT	112025698	112025784	112025730	112025730	Missense_Mutation	A	G	p.M16T
639V_URINARY_TRACT	112025698	112025805	112025730	112025730	Missense_Mutation	A	G	p.M16T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IL18

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 IL18

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IL18

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RelatedDrugs for IL18

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

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RelatedDiseases for IL18

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
IL18	C0011570	Mental Depression	3	PSYGENET
IL18	C0011581	Depressive disorder	3	PSYGENET
IL18	C0036341	Schizophrenia	2	PSYGENET
IL18	C0001969	Alcoholic Intoxication	1	PSYGENET
IL18	C0003873	Rheumatoid Arthritis	1	CTD_human
IL18	C0006663	Calcinosis	1	CTD_human
IL18	C0007786	Brain Ischemia	1	CTD_human
IL18	C0011609	Drug Eruptions	1	CTD_human
IL18	C0011616	Contact Dermatitis	1	CTD_human
IL18	C0017658	Glomerulonephritis	1	CTD_human
IL18	C0018800	Cardiomegaly	1	CTD_human
IL18	C0018824	Heart valve disease	1	CTD_human
IL18	C0020517	Hypersensitivity	1	CTD_human
IL18	C0020523	Immediate hypersensitivity	1	CTD_human
IL18	C0023281	Leishmaniasis	1	CTD_human
IL18	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
IL18	C0026640	Mouth Neoplasms	1	CTD_human
IL18	C0027627	Neoplasm Metastasis	1	CTD_human
IL18	C0032285	Pneumonia	1	CTD_human
IL18	C0033578	Prostatic Neoplasms	1	CTD_human
IL18	C0036202	Sarcoidosis	1	CTD_human
IL18	C0042109	Urticaria	1	CTD_human
IL18	C0241910	Hepatitis, Autoimmune	1	CTD_human
IL18	C0524620	Metabolic Syndrome X	1	CTD_human
IL18	C0949804	Polyomavirus Infections	1	CTD_human
IL18	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human

	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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