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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: 24937

FusionGeneSummary for NSMCE1_IL4R

check button Fusion gene summary
Fusion gene informationFusion gene name: NSMCE1_IL4R
Fusion gene ID: 24937
HgeneTgene
Gene symbol

NSMCE1

IL4R

Gene ID

197370

3566

Gene nameNSE1 homolog, SMC5-SMC6 complex componentinterleukin 4 receptor
SynonymsNSE1CD124|IL-4RA|IL4RA
Cytomap

16p12.1

16p12.1

Type of geneprotein-codingprotein-coding
Descriptionnon-structural maintenance of chromosomes element 1 homolognon-SMC element 1 homologinterleukin-4 receptor subunit alphaIL-4 receptor subunit alphaIL4R nirs variant 1interleukin 13 receptorinterleukin-4 receptor alpha chain
Modification date2018052320180519
UniProtAcc

Q8WV22

P24394

Ensembl transtripts involved in fusion geneENST00000361439, ENST00000565384, 
ENST00000395762, ENST00000543915, 
ENST00000449195, ENST00000380922, 
ENST00000170630, ENST00000565915, 
Fusion gene scores* DoF score4 X 4 X 3=483 X 3 X 2=18
# samples 53
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NSMCE1 [Title/Abstract] AND IL4R [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

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
TCGARVSKCMTCGA-BF-A1Q0-01ANSMCE1chr16

27268756

-IL4Rchr16

27367129

+
* 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
In-frameENST00000361439ENST00000395762NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
In-frameENST00000361439ENST00000543915NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
5CDS-intronENST00000361439ENST00000449195NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
5CDS-intronENST00000361439ENST00000380922NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
5CDS-intronENST00000361439ENST00000170630NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
5CDS-3UTRENST00000361439ENST00000565915NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
intron-3CDSENST00000565384ENST00000395762NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
intron-3CDSENST00000565384ENST00000543915NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
intron-intronENST00000565384ENST00000449195NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
intron-intronENST00000565384ENST00000380922NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
intron-intronENST00000565384ENST00000170630NSMCE1chr16

27268756

-IL4Rchr16

27367129

+
intron-3UTRENST00000565384ENST00000565915NSMCE1chr16

27268756

-IL4Rchr16

27367129

+

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FusionProtFeatures for NSMCE1_IL4R


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NSMCE1

Q8WV22

IL4R

P24394

RING-type zinc finger-containing E3 ubiquitin ligasethat assembles with melanoma antigen protein (MAGE) to catalyzethe direct transfer of ubiquitin from E2 ubiquitin-conjugatingenzyme to a specific substrate. Within MAGE-RING ubiquitin ligasecomplex, MAGE stimulates and specifies ubiquitin ligase activitylikely through recruitment and/or stabilization of the E2ubiquitin-conjugating enzyme at the E3:substrate complex. Involvedin maintenance of genome integrity, DNA damage response and DNArepair (PubMed:29225034, PubMed:20864041). NSMCE3/MAGEG1 andNSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex andmay positively regulate homologous recombination-mediated DNArepair (PubMed:18086888). MAGEF1-NSMCE1 ubiquitin ligase promotesproteasomal degradation of MMS19, a key component of the cytosoliciron-sulfur protein assembly (CIA) machinery. Down-regulation ofMMS19 impairs the activity of several DNA repair and metabolismenzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that requireiron-sulfur clusters as cofactors (PubMed:29225034).{ECO:0000269|PubMed:18086888, ECO:0000269|PubMed:20864041,ECO:0000269|PubMed:29225034}.

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
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49370_380223826Compositional biasNote=Poly-Glu
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49563_566223826Compositional biasNote=Poly-Ala
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49789_794223826Compositional biasNote=Poly-Ser
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611370_380223826Compositional biasNote=Poly-Glu
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611563_566223826Compositional biasNote=Poly-Ala
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611789_794223826Compositional biasNote=Poly-Ser
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08370_380-81228Compositional biasNote=Poly-Glu
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08563_566-81228Compositional biasNote=Poly-Ala
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08789_794-81228Compositional biasNote=Poly-Ser
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510370_380223826Compositional biasNote=Poly-Glu
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510563_566223826Compositional biasNote=Poly-Ala
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510789_794223826Compositional biasNote=Poly-Ser
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08125_224-81228DomainFibronectin type-III
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49262_270223826MotifNote=Box 1 motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49711_716223826MotifNote=ITIM motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611262_270223826MotifNote=Box 1 motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611711_716223826MotifNote=ITIM motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08212_216-81228MotifNote=WSXWS motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08262_270-81228MotifNote=Box 1 motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08711_716-81228MotifNote=ITIM motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510262_270223826MotifNote=Box 1 motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510711_716223826MotifNote=ITIM motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49437_557223826RegionNote=Required for IRS1 activation and IL4-induced cell growth
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49558_657223826RegionNote=Required for IL4-induced gene expression
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611437_557223826RegionNote=Required for IRS1 activation and IL4-induced cell growth
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611558_657223826RegionNote=Required for IL4-induced gene expression
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08437_557-81228RegionNote=Required for IRS1 activation and IL4-induced cell growth
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08558_657-81228RegionNote=Required for IL4-induced gene expression
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510437_557223826RegionNote=Required for IRS1 activation and IL4-induced cell growth
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510558_657223826RegionNote=Required for IL4-induced gene expression
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49257_825223826Topological domainCytoplasmic
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611257_825223826Topological domainCytoplasmic
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08257_825-81228Topological domainCytoplasmic
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+0826_232-81228Topological domainExtracellular
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510257_825223826Topological domainCytoplasmic
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49233_256223826TransmembraneHelical
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611233_256223826TransmembraneHelical
TgeneIL4Rchr16:27268756chr16:27367129ENST00000449195+08233_256-81228TransmembraneHelical
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510233_256223826TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNSMCE1chr16:27268756chr16:27367129ENST00000361439-28191_23245267Zinc fingerRING-type%3B atypical
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49125_224223826DomainFibronectin type-III
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611125_224223826DomainFibronectin type-III
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510125_224223826DomainFibronectin type-III
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+49212_216223826MotifNote=WSXWS motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+611212_216223826MotifNote=WSXWS motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+510212_216223826MotifNote=WSXWS motif
TgeneIL4Rchr16:27268756chr16:27367129ENST00000170630+4926_232223826Topological domainExtracellular
TgeneIL4Rchr16:27268756chr16:27367129ENST00000395762+61126_232223826Topological domainExtracellular
TgeneIL4Rchr16:27268756chr16:27367129ENST00000543915+51026_232223826Topological domainExtracellular


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FusionGeneSequence for NSMCE1_IL4R


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 NSMCE1_IL4R


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
NSMCE1NDNL2, MAGEF1, SMC6, NSMCE2, NSMCE4A, EID3, SMC5, NSMCE1, UBC, UBE2D2, PMF1, SIMC1, FAM178A, OBFC1, ZNF597, MAGEB10IL4RGNB2L1, ARIH2, SHC1, PTPN6, INPP5D, PTPN11, IL4, JAK1, NCF1, HGS, KAT5, IL2RG, SOCS5, STAT6, JAK2, JAK3, CD40, RHBDF2, ANKLE2, NET1, PRR11, TYK2, UTP6, KCNT2, PKMYT1, STX5, GOLGA2, DHRS3, RHOBTB3, ACVR2B, PLEKHH3, ZDHHC9, DCAKD, TNFRSF10A, RELT, BMPR1A, ERBB2, ARL5B


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
HgeneNSMCE1chr16:27268756chr16:27367129ENST00000361439-281_10245267NSMCE3


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


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RelatedDrugs for NSMCE1_IL4R


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

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RelatedDiseases for NSMCE1_IL4R


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIL4RC0007134Renal Cell Carcinoma1CTD_human