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Fusion gene ID: 20899

FusionGeneSummary for MAP4K4_IL1R1

Fusion gene summary

Fusion gene information	Fusion gene name: MAP4K4_IL1R1
	Fusion gene ID: 20899
		Hgene	Tgene
	Gene symbol	MAP4K4	IL1R1
	Gene ID	9448	3554
	Gene name	mitogen-activated protein kinase kinase kinase kinase 4	interleukin 1 receptor type 1
	Synonyms	FLH21957\|HEL-S-31\|HGK\|MEKKK4\|NIK	CD121A\|D2S1473\|IL-1R-alpha\|IL1R\|IL1RA\|P80
	Cytomap	2q11.2	2q11.2-q12.1
	Type of gene	protein-coding	protein-coding
	Description	mitogen-activated protein kinase kinase kinase kinase 4HPK/GCK-like kinase HGKMAPK/ERK kinase kinase kinase 4MEK kinase kinase 4Ste20 group protein kinase HGKepididymis secretory protein Li 31hepatocyte progenitor kinase-like/germinal center kinase-	interleukin-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 date	20180523	20180519
	UniProtAcc	O95819	P14778
	Ensembl transtripts involved in fusion gene	ENST00000425019, ENST00000324219, ENST00000350198, ENST00000302217, ENST00000413150, ENST00000347699, ENST00000456652, ENST00000350878, ENST00000498066,	ENST00000424272, ENST00000409929, ENST00000409589, ENST00000409329, ENST00000409288, ENST00000410023, ENST00000233946,
Fusion gene scores	* DoF score	11 X 7 X 8=616	4 X 5 X 2=40
	# samples	11	5
	** MAII score	log2(11/616*10)=-2.48542682717024 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: MAP4K4 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	MAP4K4	GO:0006468	protein phosphorylation	9890973
Hgene	MAP4K4	GO:0035556	intracellular signal transduction	9890973
Hgene	MAP4K4	GO:0046328	regulation of JNK cascade	14966141
Tgene	IL1R1	GO:0070498	interleukin-1-mediated signaling pathway	10383454
Tgene	IL1R1	GO:0070555	response to interleukin-1	10383454

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	LD	SKCM	TCGA-WE-A8ZO-06A	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+

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

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-5UTR	ENST00000425019	ENST00000424272	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000425019	ENST00000409929	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000425019	ENST00000409589	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000425019	ENST00000409329	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000425019	ENST00000409288	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000425019	ENST00000410023	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000425019	ENST00000233946	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000324219	ENST00000424272	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000324219	ENST00000409929	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000324219	ENST00000409589	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000324219	ENST00000409329	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000324219	ENST00000409288	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000324219	ENST00000410023	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000324219	ENST00000233946	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350198	ENST00000424272	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350198	ENST00000409929	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350198	ENST00000409589	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350198	ENST00000409329	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350198	ENST00000409288	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350198	ENST00000410023	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350198	ENST00000233946	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000302217	ENST00000424272	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000302217	ENST00000409929	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000302217	ENST00000409589	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000302217	ENST00000409329	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000302217	ENST00000409288	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000302217	ENST00000410023	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000302217	ENST00000233946	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000413150	ENST00000424272	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000413150	ENST00000409929	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000413150	ENST00000409589	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000413150	ENST00000409329	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000413150	ENST00000409288	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000413150	ENST00000410023	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000413150	ENST00000233946	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000347699	ENST00000424272	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000347699	ENST00000409929	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000347699	ENST00000409589	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000347699	ENST00000409329	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000347699	ENST00000409288	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000347699	ENST00000410023	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000347699	ENST00000233946	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000456652	ENST00000424272	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000456652	ENST00000409929	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000456652	ENST00000409589	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000456652	ENST00000409329	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000456652	ENST00000409288	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000456652	ENST00000410023	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000456652	ENST00000233946	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350878	ENST00000424272	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350878	ENST00000409929	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350878	ENST00000409589	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350878	ENST00000409329	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350878	ENST00000409288	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350878	ENST00000410023	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
5CDS-5UTR	ENST00000350878	ENST00000233946	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
intron-5UTR	ENST00000498066	ENST00000424272	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
intron-5UTR	ENST00000498066	ENST00000409929	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
intron-5UTR	ENST00000498066	ENST00000409589	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
intron-5UTR	ENST00000498066	ENST00000409329	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
intron-5UTR	ENST00000498066	ENST00000409288	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
intron-5UTR	ENST00000498066	ENST00000410023	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+
intron-5UTR	ENST00000498066	ENST00000233946	MAP4K4	chr2	102493608	+	IL1R1	chr2	102770401	+

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FusionProtFeatures for MAP4K4_IL1R1

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
MAP4K4 O95819	IL1R1 P14778
Serine/threonine kinase that may play a role in theresponse to environmental stress and cytokines such as TNF-alpha.Appears to act upstream of the JUN N-terminal pathway.Phosphorylates SMAD1 on Thr-322. {ECO:0000269\|PubMed:21690388,ECO:0000269\|PubMed:9890973}.	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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for MAP4K4_IL1R1

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 MAP4K4_IL1R1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
MAP4K4	BRCA1, RASA1, ITGB1, NCK1, MAP3K1, GBP3, ZRANB1, KIF5A, PRKCE, SLC9A1, HIST2H2BE, KIF26B, PPP1CA, GRK5, PAXIP1, PPP1CC, HSP90AA1, NME7, MOB1B, TBPL2, OBSL1, MINK1, SLC25A41, TEX264, NCK2, PTGER3, LTBR, HEPACAM2, NTRK1, CDK12, NOP2, CEP152, CNTRL, TMEM17, XPO1, PPP2CB, RNH1, STRN, FGFR1OP2, STRN3, RAP2C, NANOS2, ATG14, CNOT11, MANSC1, TRIM25, G3BP1	IL1R1	SIGIRR, IL1RAP, PIK3R1, TOLLIP, MYD88, IRAK2, IL1B, IL1RN, TOM1, IRAK4, IRAK1, TRAF6, MARCH8, PELI1, TICAM2, HERPUD1, ATP2A3, ICK, TUBB8, MFAP3, TNFRSF10B, BMPR1A

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for MAP4K4_IL1R1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Tgene	IL1R1	P14778	DB00026	Anakinra	Interleukin-1 receptor type 1	biotech	approved

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RelatedDiseases for MAP4K4_IL1R1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	IL1R1	C0014175	Endometriosis	2	CTD_human
Tgene	IL1R1	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
Tgene	IL1R1	C0020517	Hypersensitivity	1	CTD_human
Tgene	IL1R1	C0032285	Pneumonia	1	CTD_human
Tgene	IL1R1	C0037274	Dermatologic disorders	1	CTD_human

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Fusion gene ID: 20899

FusionGeneSummary for MAP4K4_IL1R1

FusionProtFeatures for MAP4K4_IL1R1

FusionGeneSequence for MAP4K4_IL1R1

FusionGenePPI for MAP4K4_IL1R1

RelatedDrugs for MAP4K4_IL1R1

RelatedDiseases for MAP4K4_IL1R1