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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: 22675

FusionGeneSummary for MSN_NLRC4

check button Fusion gene summary
Fusion gene informationFusion gene name: MSN_NLRC4
Fusion gene ID: 22675
HgeneTgene
Gene symbol

MSN

NLRC4

Gene ID

4478

58484

Gene namemoesinNLR family CARD domain containing 4
SynonymsHEL70|IMD50AIFEC|CARD12|CLAN|CLAN1|CLANA|CLANB|CLANC|CLAND|CLR2.1|FCAS4|IPAF
Cytomap

Xq12

2p22.3

Type of geneprotein-codingprotein-coding
Descriptionmoesinepididymis luminal protein 70membrane-organizing extension spike proteinNLR family CARD domain-containing protein 4CARD, LRR, and NACHT-containing proteinICE-protease activating factorNOD-like receptor C4caspase recruitment domain family, member 12caspase recruitment domain-containing protein 12nucleotide-binding oligom
Modification date2018052720180523
UniProtAcc

P26038

Q9NPP4

Ensembl transtripts involved in fusion geneENST00000609205, ENST00000360270, 
ENST00000360906, ENST00000402280, 
ENST00000342905, ENST00000404025, 
Fusion gene scores* DoF score7 X 7 X 3=1471 X 2 X 1=2
# samples 81
** MAII scorelog2(8/147*10)=-0.877744249949002
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/2*10)=2.32192809488736
Context

PubMed: MSN [Title/Abstract] AND NLRC4 [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
HgeneMSN

GO:0001771

immunological synapse formation

27405666

HgeneMSN

GO:0042098

T cell proliferation

27405666

HgeneMSN

GO:0070489

T cell aggregation

27405666

HgeneMSN

GO:0071394

cellular response to testosterone stimulus

24065547

HgeneMSN

GO:0072678

T cell migration

27405666

TgeneNLRC4

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

15030775

TgeneNLRC4

GO:0016045

detection of bacterium

15107016

TgeneNLRC4

GO:0042742

defense response to bacterium

15107016

TgeneNLRC4

GO:0043065

positive regulation of apoptotic process

12646168

TgeneNLRC4

GO:0050702

interleukin-1 beta secretion

15882992

TgeneNLRC4

GO:0051092

positive regulation of NF-kappaB transcription factor activity

12646168


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
TCGARVBRCATCGA-JL-A3YW-01AMSNchrX

64887720

+NLRC4chr2

32461408

-
TCGALDBRCATCGA-JL-A3YW-01AMSNchrX

64887720

+NLRC4chr2

32460637

-
* 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-3CDSENST00000609205ENST00000360906MSNchrX

64887720

+NLRC4chr2

32461408

-
intron-3CDSENST00000609205ENST00000402280MSNchrX

64887720

+NLRC4chr2

32461408

-
intron-3CDSENST00000609205ENST00000342905MSNchrX

64887720

+NLRC4chr2

32461408

-
intron-3CDSENST00000609205ENST00000404025MSNchrX

64887720

+NLRC4chr2

32461408

-
Frame-shitENST00000360270ENST00000360906MSNchrX

64887720

+NLRC4chr2

32461408

-
Frame-shitENST00000360270ENST00000402280MSNchrX

64887720

+NLRC4chr2

32461408

-
Frame-shitENST00000360270ENST00000342905MSNchrX

64887720

+NLRC4chr2

32461408

-
Frame-shitENST00000360270ENST00000404025MSNchrX

64887720

+NLRC4chr2

32461408

-
intron-3CDSENST00000609205ENST00000360906MSNchrX

64887720

+NLRC4chr2

32460637

-
intron-3CDSENST00000609205ENST00000402280MSNchrX

64887720

+NLRC4chr2

32460637

-
intron-3CDSENST00000609205ENST00000342905MSNchrX

64887720

+NLRC4chr2

32460637

-
intron-3CDSENST00000609205ENST00000404025MSNchrX

64887720

+NLRC4chr2

32460637

-
Frame-shitENST00000360270ENST00000360906MSNchrX

64887720

+NLRC4chr2

32460637

-
Frame-shitENST00000360270ENST00000402280MSNchrX

64887720

+NLRC4chr2

32460637

-
Frame-shitENST00000360270ENST00000342905MSNchrX

64887720

+NLRC4chr2

32460637

-
Frame-shitENST00000360270ENST00000404025MSNchrX

64887720

+NLRC4chr2

32460637

-

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FusionProtFeatures for MSN_NLRC4


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

P26038

NLRC4

Q9NPP4

Probably involved in connections of major cytoskeletalstructures to the plasma membrane. May inhibit herpes simplexvirus 1 infection at an early stage. Plays a role in regulatingthe proliferation, migration, and adhesion of human lymphoid cellsand participates in immunologic synapse formation(PubMed:27405666). {ECO:0000269|PubMed:21549406,ECO:0000269|PubMed:27405666}. Key component of inflammasomes that indirectly sensesspecific proteins from pathogenic bacteria and fungi and respondsby assembling an inflammasome complex that promotes caspase-1activation, cytokine production and macrophage pyroptosis(PubMed:15107016). The NLRC4 inflammasome is activated as part ofthe innate immune response to a range of intracellular bacteria(By similarity). {ECO:0000250|UniProtKB:Q3UP24,ECO:0000269|PubMed:15107016}.

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 MSN_NLRC4


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 MSN_NLRC4


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
MSNTSC1, HLA-B, BID, TNFRSF10B, EZR, FADD, FASLG, MAPK8, FAS, RHOA, ARHGDIA, CASP10, CASP8, TNFRSF1A, MSN, ICAM3, NCF1, NCF4, VCAM1, SLC9A3R1, SELL, SPN, SPTAN1, CD46, ICAM2, CD44, SELPLG, H2AFX, ELAVL1, SIRT7, ISG15, TERF1, BRCA1, CDK2, HADHA, GTF3C4, SRCAP, S100A16, FN1, ITGA4, ICAM1, CD81, IGSF8, CDK11B, MAPK10, ASNS, CAPN2, DHX15, GINS3, GSS, HSPA5, AHCY, ATIC, DCPS, FH, NAE1, PDIA4, PFAS, PTMA, STK24, TATDN1, TUBB3, VCL, NSFL1C, PAFAH1B1, PAFAH1B2, PAPSS1, PDHA1, PPP1R2, RAP1GDS1, ABCE1, TSPAN33, VPS11, ACAA2, AKR1B1, CALR, CALU, CD2AP, CTNNB1, EIF5AL1, ENO1, ENO2, FABP5, FAXC, FKBP2, HNRNPA1, HSD17B10, HSPA4, HSPA4L, HSPE1, HSPH1, ISYNA1, JUP, LCP1, DUT, GDI1, HSPB1, IMPA2, ME1, NOTCH2, P4HB, PGD, PGK1, PGK2, PLS1, PLS3, RCN1, STIP1, TAGLN2, TKT, UCHL3, WDR1, EWSR1, MYH9, PTPN1, MYO19, TRIM15, MCM2, U2AF2, SMURF1, CDC73, MISP, MRPL12NLRC4NLRC4, NOD2, XK, NOD1, NAIP, NLRP3, CASP1, NLRP1, BCL10, PYCARD, PSMC5, CASP8, ALB, FADD


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 MSN_NLRC4


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 MSN_NLRC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMSNC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneMSNC0029408Degenerative polyarthritis1CTD_human
HgeneMSNC0151744Myocardial Ischemia1CTD_human
HgeneMSNC3495559Juvenile arthritis1CTD_human
TgeneNLRC4C0751422Hereditary Autoinflammatory Diseases2CTD_human
TgeneNLRC4C4015067AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS2ORPHANET;UNIPROT
TgeneNLRC4C0014356Enterocolitis1CTD_human
TgeneNLRC4C1096155Macrophage Activation Syndrome1CTD_human
TgeneNLRC4C4015276FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 41UNIPROT