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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for IL18R1

check button Gene summary
Gene informationGene symbol

IL18R1

Gene ID

8809

Gene nameinterleukin 18 receptor 1
SynonymsCD218a|CDw218a|IL-1Rrp|IL18RA|IL1RRP
Cytomap

2q12.1

Type of geneprotein-coding
Descriptioninterleukin-18 receptor 1CD218 antigen-like family member AIL-18R-1IL-18R1IL1 receptor-related proteinIL18Ralpha2IL1R-rpcytokine receptor
Modification date20180519
UniProtAcc

Q13478

ContextPubMed: IL18R1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

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

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Exon skipping events across known transcript of Ensembl for IL18R1 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for IL18R1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for IL18R1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3283392102979120:102979178:102984284:102984528:102988412:102988578102984284:102984528ENSG00000115604.6ENST00000409599.1,ENST00000410040.1,ENST00000334376.3,ENST00000233957.1
exon_skip_3283442102992366:102992523:102998079:102998142:103001337:103001458102998079:102998142ENSG00000115604.6ENST00000409599.1,ENST00000410040.1,ENST00000233957.1
exon_skip_3283452102998079:102998142:103001337:103001458:103003320:103003460103001337:103001458ENSG00000115604.6ENST00000409599.1,ENST00000410040.1,ENST00000233957.1
exon_skip_3283482103003320:103003460:103006515:103006677:103010928:103011087103006515:103006677ENSG00000115604.6ENST00000409599.1,ENST00000410040.1,ENST00000233957.1
exon_skip_3283542103006518:103006677:103010928:103011087:103012990:103013346103010928:103011087ENSG00000115604.6ENST00000409599.1,ENST00000410040.1,ENST00000233957.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for IL18R1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3283392102979120:102979178:102984284:102984528:102988412:102988578102984284:102984528ENSG00000115604.6ENST00000410040.1,ENST00000409599.1,ENST00000233957.1,ENST00000334376.3
exon_skip_3283442102992366:102992523:102998079:102998142:103001337:103001458102998079:102998142ENSG00000115604.6ENST00000410040.1,ENST00000409599.1,ENST00000233957.1
exon_skip_3283452102998079:102998142:103001337:103001458:103003320:103003460103001337:103001458ENSG00000115604.6ENST00000410040.1,ENST00000409599.1,ENST00000233957.1
exon_skip_3283482103003320:103003460:103006515:103006677:103010928:103011087103006515:103006677ENSG00000115604.6ENST00000410040.1,ENST00000409599.1,ENST00000233957.1
exon_skip_3283542103006518:103006677:103010928:103011087:103012990:103013346103010928:103011087ENSG00000115604.6ENST00000410040.1,ENST00000409599.1,ENST00000233957.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for IL18R1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000233957102984284102984528Frame-shift
ENST00000409599102984284102984528Frame-shift
ENST00000233957103001337103001458Frame-shift
ENST00000409599103001337103001458Frame-shift
ENST00000233957102998079102998142In-frame
ENST00000409599102998079102998142In-frame
ENST00000233957103006515103006677In-frame
ENST00000409599103006515103006677In-frame
ENST00000233957103010928103011087In-frame
ENST00000409599103010928103011087In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000233957102984284102984528Frame-shift
ENST00000409599102984284102984528Frame-shift
ENST00000233957103001337103001458Frame-shift
ENST00000409599103001337103001458Frame-shift
ENST00000233957102998079102998142In-frame
ENST00000409599102998079102998142In-frame
ENST00000233957103006515103006677In-frame
ENST00000409599103006515103006677In-frame
ENST00000233957103010928103011087In-frame
ENST00000409599103010928103011087In-frame

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Infer the effects of exon skipping event on protein functional features for IL18R1

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

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002339573539541102998079102998142650712208229
ENST0000040959938715411029980791029981429821044208229
ENST0000023395735395411030065151030066779741135316370
ENST00000409599387154110300651510300667713061467316370
ENST00000233957353954110301092810301108711361294370423
ENST00000409599387154110301092810301108714681626370423

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002339573539541102998079102998142650712208229
ENST0000040959938715411029980791029981429821044208229
ENST0000023395735395411030065151030066779741135316370
ENST00000409599387154110300651510300667713061467316370
ENST00000233957353954110301092810301108711361294370423
ENST00000409599387154110301092810301108714681626370423

check button 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 featureDescription of feature
Q13478208229216219Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3WO4
Q13478208229216219Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3WO4
Q13478208229221226Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4R6U
Q13478208229221226Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4R6U
Q1347820822919541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q1347820822919541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q13478208229133212DomainNote=Ig-like C2-type 2
Q13478208229133212DomainNote=Ig-like C2-type 2
Q13478208229220312DomainNote=Ig-like C2-type 3
Q13478208229220312DomainNote=Ig-like C2-type 3
Q13478208229210210Natural variantID=VAR_053379;Note=R->H;Dbxref=dbSNP:rs11465635
Q13478208229210210Natural variantID=VAR_053379;Note=R->H;Dbxref=dbSNP:rs11465635
Q1347820822922329Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1347820822922329Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1347831637019541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q1347831637019541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q13478316370317317Natural variantID=VAR_014955;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8626725;Dbxref=PMID:8626725
Q13478316370317317Natural variantID=VAR_014955;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8626725;Dbxref=PMID:8626725
Q1347831637022329Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1347831637022329Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478316370351541Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478316370351541Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478316370330350TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478316370330350TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1347837042319541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q1347837042319541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q13478370423373523DomainNote=TIR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00204
Q13478370423373523DomainNote=TIR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00204
Q13478370423423423Natural variantID=VAR_053382;Note=G->R;Dbxref=dbSNP:rs12619169
Q13478370423423423Natural variantID=VAR_053382;Note=G->R;Dbxref=dbSNP:rs12619169
Q13478370423351541Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478370423351541Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


check button 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 featureDescription of feature
Q13478208229216219Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3WO4
Q13478208229216219Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3WO4
Q13478208229221226Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4R6U
Q13478208229221226Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4R6U
Q1347820822919541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q1347820822919541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q13478208229133212DomainNote=Ig-like C2-type 2
Q13478208229133212DomainNote=Ig-like C2-type 2
Q13478208229220312DomainNote=Ig-like C2-type 3
Q13478208229220312DomainNote=Ig-like C2-type 3
Q13478208229210210Natural variantID=VAR_053379;Note=R->H;Dbxref=dbSNP:rs11465635
Q13478208229210210Natural variantID=VAR_053379;Note=R->H;Dbxref=dbSNP:rs11465635
Q1347820822922329Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1347820822922329Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1347831637019541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q1347831637019541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q13478316370317317Natural variantID=VAR_014955;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8626725;Dbxref=PMID:8626725
Q13478316370317317Natural variantID=VAR_014955;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8626725;Dbxref=PMID:8626725
Q1347831637022329Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1347831637022329Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478316370351541Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478316370351541Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478316370330350TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478316370330350TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1347837042319541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q1347837042319541ChainID=PRO_0000015448;Note=Interleukin-18 receptor 1
Q13478370423373523DomainNote=TIR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00204
Q13478370423373523DomainNote=TIR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00204
Q13478370423423423Natural variantID=VAR_053382;Note=G->R;Dbxref=dbSNP:rs12619169
Q13478370423423423Natural variantID=VAR_053382;Note=G->R;Dbxref=dbSNP:rs12619169
Q13478370423351541Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q13478370423351541Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for IL18R1

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

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

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_328339
102984285102984528102984386102984386Frame_Shift_DelA-p.K54fs
LIHCTCGA-DD-A1EG-01exon_skip_328339
102984285102984528102984494102984494Frame_Shift_DelT-p.L90fs
LIHCTCGA-G3-A3CJ-01exon_skip_328345
103001338103001458103001355103001355Frame_Shift_DelA-p.N236fs
LIHCTCGA-DD-A3A0-01exon_skip_328348
103006516103006677103006638103006638Frame_Shift_DelT-p.F358fs
LIHCTCGA-G3-A3CJ-01exon_skip_328354
103010929103011087103010948103010948Frame_Shift_DelT-p.A377fs
LIHCTCGA-DD-A39Y-01exon_skip_328354
103010929103011087103010980103010980Frame_Shift_DelA-p.E388fs
UCECTCGA-AP-A059-01exon_skip_328339
102984285102984528102984394102984394Nonsense_MutationGAp.W56*
BLCATCGA-ZF-A9RM-01exon_skip_328348
103006516103006677103006643103006643Nonsense_MutationTGp.Y359*
LUADTCGA-97-A4M7-01exon_skip_328354
103010929103011087103010991103010991Nonsense_MutationGTp.E392*
STADTCGA-BR-6452-01exon_skip_328354
103010929103011087103010928103010928Splice_SiteGA.
STADTCGA-BR-6452-01exon_skip_328354
103010929103011087103010928103010928Splice_SiteGAp.D371_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HCC202_BREAST103010929103011087103011032103011032Frame_Shift_DelG-p.E405fs
SW1088_CENTRAL_NERVOUS_SYSTEM102984285102984528102984356102984356Missense_MutationTCp.S44P
NCIH358_LUNG102984285102984528102984383102984383Missense_MutationATp.T53S
CORL23_LUNG102984285102984528102984447102984447Missense_MutationCGp.S74W
GCT_SOFT_TISSUE102984285102984528102984526102984526Missense_MutationGAp.M100I
SNU81_LARGE_INTESTINE102998080102998142102998106102998106Missense_MutationCAp.L218I
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE102998080102998142102998107102998107Missense_MutationTAp.L218H
KYAE1_OESOPHAGUS103001338103001458103001362103001362Missense_MutationCGp.S238C
EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE103001338103001458103001403103001403Missense_MutationGAp.G252R
MEWO_SKIN103001338103001458103001424103001424Missense_MutationCTp.P259S
NCIH2342_LUNG103006516103006677103006599103006599Missense_MutationGAp.V345M
HEC251_ENDOMETRIUM103006516103006677103006667103006667Missense_MutationACp.E367D
HT115_LARGE_INTESTINE103010929103011087103010950103010950Missense_MutationTGp.F378C
COLO680N_OESOPHAGUS102984285102984528102984394102984394Nonsense_MutationGAp.W56*
MCC26_SKIN103001338103001458103001419103001419Nonsense_MutationCAp.S257*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IL18R1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3283452102998079:102998142:103001337:103001458:103003320:103003460103001337:103001458ENST00000409599.1,ENST00000410040.1,ENST00000233957.1OVrs1035130chr2:103001402C/T1.13e-03
exon_skip_3283452102998079:102998142:103001337:103001458:103003320:103003460103001337:103001458ENST00000409599.1,ENST00000410040.1,ENST00000233957.1OVrs1035130chr2:103001402C/T1.13e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IL18R1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IL18R1


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RelatedDrugs for IL18R1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for IL18R1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
IL18R1C0036341Schizophrenia1PSYGENET