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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: 23957

FusionGeneSummary for NEDD4L_IL1R1

check button Fusion gene summary
Fusion gene informationFusion gene name: NEDD4L_IL1R1
Fusion gene ID: 23957
HgeneTgene
Gene symbol

NEDD4L

IL1R1

Gene ID

23327

3554

Gene nameneural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligaseinterleukin 1 receptor type 1
SynonymsNEDD4-2|NEDD4.2|PVNH7|RSP5|hNEDD4-2CD121A|D2S1473|IL-1R-alpha|IL1R|IL1RA|P80
Cytomap

18q21.31

2q11.2-q12.1

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase NEDD4-likeHECT-type E3 ubiquitin transferase NED4Lubiquitin-protein ligase Rsp5interleukin-1 receptor type 1CD121 antigen-like family member AIL-1R-1IL-1RT-1IL-1RT1interleukin 1 receptor alpha, type Iinterleukin-1 receptor alphainterleukin-1 receptor type I
Modification date2018052320180519
UniProtAcc

Q96PU5

P14778

Ensembl transtripts involved in fusion geneENST00000356462, ENST00000400345, 
ENST00000589054, ENST00000256832, 
ENST00000382850, ENST00000256830, 
ENST00000588516, ENST00000456986, 
ENST00000435432, ENST00000357895, 
ENST00000586263, ENST00000456173, 
ENST00000431212, 		ENST00000424272, 
ENST00000409929, ENST00000409589, 
ENST00000409329, ENST00000409288, 
ENST00000410023, ENST00000233946, 
Fusion gene scores* DoF score18 X 11 X 9=17824 X 5 X 2=40
# samples 205
** MAII scorelog2(20/1782*10)=-3.1554254317472
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NEDD4L [Title/Abstract] AND IL1R1 [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
HgeneNEDD4L

GO:0003254

regulation of membrane depolarization

15217910

HgeneNEDD4L

GO:0006511

ubiquitin-dependent protein catabolic process

21463633

HgeneNEDD4L

GO:0010038

response to metal ion

11244092

HgeneNEDD4L

GO:0016567

protein ubiquitination

15217910|25631046

HgeneNEDD4L

GO:0034765

regulation of ion transmembrane transport

17289006

HgeneNEDD4L

GO:0042391

regulation of membrane potential

17289006

HgeneNEDD4L

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

21463633

HgeneNEDD4L

GO:0060306

regulation of membrane repolarization

21463633

HgeneNEDD4L

GO:0070936

protein K48-linked ubiquitination

21463633

HgeneNEDD4L

GO:1901016

regulation of potassium ion transmembrane transporter activity

17289006

HgeneNEDD4L

GO:1901017

negative regulation of potassium ion transmembrane transporter activity

21463633

HgeneNEDD4L

GO:1901380

negative regulation of potassium ion transmembrane transport

21463633

HgeneNEDD4L

GO:1902306

negative regulation of sodium ion transmembrane transport

15217910

HgeneNEDD4L

GO:1903861

positive regulation of dendrite extension

23999003

HgeneNEDD4L

GO:2000009

negative regulation of protein localization to cell surface

21463633

HgeneNEDD4L

GO:2000650

negative regulation of sodium ion transmembrane transporter activity

15217910

TgeneIL1R1

GO:0070498

interleukin-1-mediated signaling pathway

10383454

TgeneIL1R1

GO:0070555

response to interleukin-1

10383454


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
ChiTaRS3.1BE842555NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
* 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
intron-intronENST00000356462ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000356462ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000356462ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000356462ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000356462ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000356462ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000356462ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000400345ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000400345ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000400345ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000400345ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000400345ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000400345ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000400345ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000589054ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000589054ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000589054ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000589054ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000589054ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000589054ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000589054ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000256832ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000256832ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000256832ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000256832ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000256832ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000256832ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000256832ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000382850ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000382850ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000382850ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000382850ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000382850ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000382850ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000382850ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000256830ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000256830ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000256830ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000256830ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000256830ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000256830ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000256830ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000588516ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000588516ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000588516ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000588516ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000588516ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000588516ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000588516ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000456986ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000456986ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000456986ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000456986ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000456986ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000456986ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000456986ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000435432ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000435432ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000435432ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000435432ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000435432ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000435432ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000435432ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000357895ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000357895ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000357895ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000357895ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000357895ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000357895ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000357895ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000586263ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000586263ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000586263ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000586263ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000586263ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000586263ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000586263ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000456173ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000456173ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000456173ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000456173ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000456173ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000456173ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000456173ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000431212ENST00000424272NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000431212ENST00000409929NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000431212ENST00000409589NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000431212ENST00000409329NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-intronENST00000431212ENST00000409288NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000431212ENST00000410023NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-
intron-3UTRENST00000431212ENST00000233946NEDD4Lchr18

56042192

+IL1R1chr2

102794735

-

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FusionProtFeatures for NEDD4L_IL1R1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NEDD4L

Q96PU5

IL1R1

P14778

Receptor for IL1A, IL1B and IL1RN. After binding tointerleukin-1 associates with the coreceptor IL1RAP to form thehigh affinity interleukin-1 receptor complex which mediatesinterleukin-1-dependent activation of NF-kappa-B, MAPK and otherpathways. Signaling involves the recruitment of adapter moleculessuch as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIRdomains of the receptor/coreceptor subunits. Binds ligands withcomparable affinity and binding of antagonist IL1RN preventsassociation with IL1RAP to form a signaling complex. Involved inIL1B-mediated costimulation of IFNG production from T-helper 1(Th1) cells (PubMed:10653850). {ECO:0000269|PubMed:10653850,ECO:0000269|PubMed:10671496}.

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 NEDD4L_IL1R1


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 NEDD4L_IL1R1


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


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 NEDD4L_IL1R1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneIL1R1P14778DB00026AnakinraInterleukin-1 receptor type 1biotechapproved

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RelatedDiseases for NEDD4L_IL1R1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNEDD4LC0020538Hypertensive disease2CTD_human
HgeneNEDD4LC0008925Cleft Palate1CTD_human
HgeneNEDD4LC0014175Endometriosis1CTD_human
HgeneNEDD4LC0039075Syndactyly1CTD_human
HgeneNEDD4LC1868720Periventricular Nodular Heterotopia1CTD_human;ORPHANET
TgeneIL1R1C0014175Endometriosis2CTD_human
TgeneIL1R1C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneIL1R1C0020517Hypersensitivity1CTD_human
TgeneIL1R1C0032285Pneumonia1CTD_human
TgeneIL1R1C0037274Dermatologic disorders1CTD_human