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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 29080

FusionGeneSummary for PSD4_IL1RN

check button Fusion gene summary
Fusion gene informationFusion gene name: PSD4_IL1RN
Fusion gene ID: 29080
HgeneTgene
Gene symbol

PSD4

IL1RN

Gene ID

23550

3557

Gene namepleckstrin and Sec7 domain containing 4interleukin 1 receptor antagonist
SynonymsEFA6B|TICDIRA|ICIL-1RA|IL-1RN|IL-1ra|IL-1ra3|IL1F3|IL1RA|IRAP|MVCD4
Cytomap

2q14.1

2q14.1

Type of geneprotein-codingprotein-coding
DescriptionPH and SEC7 domain-containing protein 4ADP-ribosylation factor guanine nucleotide-exchange factor 6SEC7 homologexchange factor for ADP-ribosylation factor guanine nucleotide factor 6 Bexchange factor for ADP-ribosylation factor guanine nucleotide factinterleukin-1 receptor antagonist proteinIL1 inhibitorintracellular IL-1 receptor antagonist type IIintracellular interleukin-1 receptor antagonist (icIL-1ra)type II interleukin-1 receptor antagonist
Modification date2018052320180527
UniProtAcc

Q8NDX1

P18510

Ensembl transtripts involved in fusion geneENST00000465917, ENST00000245796, 
ENST00000441564, 		ENST00000465812, 
ENST00000409052, ENST00000361779, 
ENST00000259206, ENST00000354115, 
ENST00000409930, 
Fusion gene scores* DoF score4 X 4 X 4=647 X 4 X 6=168
# samples 59
** MAII scorelog2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSD4 [Title/Abstract] AND IL1RN [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneIL1RN

GO:0034115

negative regulation of heterotypic cell-cell adhesion

2139180

TgeneIL1RN

GO:0051384

response to glucocorticoid

10443688

TgeneIL1RN

GO:2000660

negative regulation of interleukin-1-mediated signaling pathway

2137200|2139180


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLIHCTCGA-BC-A10Y-01APSD4chr2

113915112

+IL1RNchr2

113885266

+
TCGALDLUSCTCGA-34-2600-01APSD4chr2

113915112

+IL1RNchr2

113868693

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-intronENST00000465917ENST00000465812PSD4chr2

113915112

+IL1RNchr2

113885266

+
3UTR-5UTRENST00000465917ENST00000409052PSD4chr2

113915112

+IL1RNchr2

113885266

+
3UTR-5UTRENST00000465917ENST00000361779PSD4chr2

113915112

+IL1RNchr2

113885266

+
3UTR-5UTRENST00000465917ENST00000259206PSD4chr2

113915112

+IL1RNchr2

113885266

+
3UTR-5UTRENST00000465917ENST00000354115PSD4chr2

113915112

+IL1RNchr2

113885266

+
3UTR-5UTRENST00000465917ENST00000409930PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-intronENST00000245796ENST00000465812PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000245796ENST00000409052PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000245796ENST00000361779PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000245796ENST00000259206PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000245796ENST00000354115PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000245796ENST00000409930PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-intronENST00000441564ENST00000465812PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000441564ENST00000409052PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000441564ENST00000361779PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000441564ENST00000259206PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000441564ENST00000354115PSD4chr2

113915112

+IL1RNchr2

113885266

+
intron-5UTRENST00000441564ENST00000409930PSD4chr2

113915112

+IL1RNchr2

113885266

+
3UTR-3UTRENST00000465917ENST00000465812PSD4chr2

113915112

+IL1RNchr2

113868693

+
3UTR-3UTRENST00000465917ENST00000409052PSD4chr2

113915112

+IL1RNchr2

113868693

+
3UTR-intronENST00000465917ENST00000361779PSD4chr2

113915112

+IL1RNchr2

113868693

+
3UTR-intronENST00000465917ENST00000259206PSD4chr2

113915112

+IL1RNchr2

113868693

+
3UTR-intronENST00000465917ENST00000354115PSD4chr2

113915112

+IL1RNchr2

113868693

+
3UTR-intronENST00000465917ENST00000409930PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-3UTRENST00000245796ENST00000465812PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-3UTRENST00000245796ENST00000409052PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-intronENST00000245796ENST00000361779PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-intronENST00000245796ENST00000259206PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-intronENST00000245796ENST00000354115PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-intronENST00000245796ENST00000409930PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-3UTRENST00000441564ENST00000465812PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-3UTRENST00000441564ENST00000409052PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-intronENST00000441564ENST00000361779PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-intronENST00000441564ENST00000259206PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-intronENST00000441564ENST00000354115PSD4chr2

113915112

+IL1RNchr2

113868693

+
intron-intronENST00000441564ENST00000409930PSD4chr2

113915112

+IL1RNchr2

113868693

+

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FusionProtFeatures for PSD4_IL1RN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PSD4

Q8NDX1

IL1RN

P18510

Guanine nucleotide exchange factor for ARF6 andARL14/ARF7. Through ARL14 activation, controls the movement of MHCclass II-containing vesicles along the actin cytoskeleton indendritic cells. Involved in membrane recycling. Interacts withseveral phosphatidylinositol phosphate species, includingphosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 4,5-bisphosphate.{ECO:0000269|PubMed:12082148, ECO:0000269|PubMed:21458045}. Inhibits the activity of interleukin-1 by binding toreceptor IL1R1 and preventing its association with the coreceptorIL1RAP for signaling. Has no interleukin-1 like activity. Bindsfunctional interleukin-1 receptor IL1R1 with greater affinity thandecoy receptor IL1R2; however, the physiological relevance of thelatter association is unsure. {ECO:0000269|PubMed:7775431}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PSD4_IL1RN


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PSD4_IL1RN


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PSD4USP9XIL1RNIL1R2, IL1R1, TERF2IP, POT1, RELA, SEC22C, FTH1, TBC1D22B, FCF1, CDK15


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PSD4_IL1RN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneIL1RNP18510DB06372RilonaceptInterleukin-1 receptor antagonist proteinbiotechapproved|investigational

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RelatedDiseases for PSD4_IL1RN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIL1RNC0020429Hyperalgesia4CTD_human
TgeneIL1RNC0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneIL1RNC0003873Rheumatoid Arthritis2CTD_human
TgeneIL1RNC0005586Bipolar Disorder2PSYGENET
TgeneIL1RNC0011206Delirium2PSYGENET
TgeneIL1RNC0027051Myocardial Infarction2CTD_human
TgeneIL1RNC0027540Necrosis2CTD_human
TgeneIL1RNC0033578Prostatic Neoplasms2CTD_human
TgeneIL1RNC0037274Dermatologic disorders2CTD_human
TgeneIL1RNC0001723Affective Disorders, Psychotic1PSYGENET
TgeneIL1RNC0003123Anorexia1CTD_human
TgeneIL1RNC0003165Anthracosis1CTD_human
TgeneIL1RNC0004096Asthma1CTD_human
TgeneIL1RNC0004352Autistic Disorder1CTD_human
TgeneIL1RNC0007786Brain Ischemia1CTD_human
TgeneIL1RNC0009375Colonic Neoplasms1CTD_human
TgeneIL1RNC0011991Diarrhea1CTD_human
TgeneIL1RNC0013415Dysthymic Disorder1PSYGENET
TgeneIL1RNC0015379Extravasation of Diagnostic and Therapeutic Materials1CTD_human
TgeneIL1RNC0016059Fibrosis1CTD_human
TgeneIL1RNC0018099Gout1CTD_human
TgeneIL1RNC0021368Inflammation1CTD_human
TgeneIL1RNC0022658Kidney Diseases1CTD_human
TgeneIL1RNC0023186Learning Disorders1CTD_human
TgeneIL1RNC0027121Myositis1CTD_human
TgeneIL1RNC0027626Neoplasm Invasiveness1CTD_human
TgeneIL1RNC0030193Pain1CTD_human
TgeneIL1RNC0033687Proteinuria1CTD_human
TgeneIL1RNC0034069Pulmonary Fibrosis1CTD_human
TgeneIL1RNC0036429Sclerosis1CTD_human
TgeneIL1RNC0038220Status Epilepticus1CTD_human
TgeneIL1RNC0038454Cerebrovascular accident1CTD_human
TgeneIL1RNC0085129Bronchial Hyperreactivity1CTD_human
TgeneIL1RNC0162557Liver Failure, Acute1CTD_human
TgeneIL1RNC0311375Arsenic Poisoning1CTD_human
TgeneIL1RNC0333355Inflammatory disease of mucous membrane1CTD_human
TgeneIL1RNC0333641Atrophic1CTD_human
TgeneIL1RNC0524988Schnitzler Syndrome1CTD_human
TgeneIL1RNC0525045Mood Disorders1PSYGENET
TgeneIL1RNC3495559Juvenile arthritis1CTD_human