	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 17711

FusionGeneSummary for IRAK2_VHL

Fusion gene summary

Fusion gene information	Fusion gene name: IRAK2_VHL
	Fusion gene ID: 17711
		Hgene	Tgene
	Gene symbol	IRAK2	VHL
	Gene ID	3656	7428
	Gene name	interleukin 1 receptor associated kinase 2	von Hippel-Lindau tumor suppressor
	Synonyms	IRAK-2	HRCA1\|RCA1\|VHL1\|pVHL
	Cytomap	3p25.3	3p25.3
	Type of gene	protein-coding	protein-coding
	Description	interleukin-1 receptor-associated kinase-like 2	von Hippel-Lindau disease tumor suppressorelongin binding proteinprotein G7von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
	Modification date	20180523	20180523
	UniProtAcc	O43187	P40337
	Ensembl transtripts involved in fusion gene	ENST00000256458,	ENST00000256474, ENST00000345392, ENST00000477538,
Fusion gene scores	* DoF score	4 X 4 X 4=64	3 X 2 X 3=18
	# samples	4	3
	** MAII score	log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: IRAK2 [Title/Abstract] AND VHL [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.

* 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
Tgene	VHL	GO:0016567	protein ubiquitination	24899725
Tgene	VHL	GO:0061428	negative regulation of transcription from RNA polymerase II promoter in response to hypoxia	11641274

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	STAD	TCGA-VQ-A8PE-01A	IRAK2	chr3	10219704	+	VHL	chr3	10191471	+

* 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
In-frame	ENST00000256458	ENST00000256474	IRAK2	chr3	10219704	+	VHL	chr3	10191471	+
In-frame	ENST00000256458	ENST00000345392	IRAK2	chr3	10219704	+	VHL	chr3	10191471	+
5CDS-3UTR	ENST00000256458	ENST00000477538	IRAK2	chr3	10219704	+	VHL	chr3	10191471	+

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FusionProtFeatures for IRAK2_VHL

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

Hgene	Tgene
IRAK2 O43187	VHL P40337
Binds to the IL-1 type I receptor following IL-1engagement, triggering intracellular signaling cascades leading totranscriptional up-regulation and mRNA stabilization.{ECO:0000269\|PubMed:10383454, ECO:0000269\|PubMed:9374458}.	Involved in the ubiquitination and subsequentproteasomal degradation via the von Hippel-Lindau ubiquitinationcomplex. Seems to act as a target recruitment subunit in the E3ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved intranscriptional repression through interaction with HIF1A, HIF1ANand histone deacetylases. Ubiquitinates, in an oxygen-responsivemanner, ADRB2. {ECO:0000269\|PubMed:10944113,ECO:0000269\|PubMed:17981124, ECO:0000269\|PubMed:19584355}.

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

Hgene

IRAK2

chr3:10219704

chr3:10191471

ENST00000256458

13_94

626

Domain

Note=Death

- 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

Hgene

IRAK2

chr3:10219704

chr3:10191471

ENST00000256458

210_489

626

Domain

Protein kinase

Hgene

IRAK2

chr3:10219704

chr3:10191471

ENST00000256458

216_224

626

Nucleotide binding

ATP

Hgene

IRAK2

chr3:10219704

chr3:10191471

ENST00000256458

337_340

626

Nucleotide binding

ATP

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

100_155

154

214

Region

Note=Involved in binding to CCT complex

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

14_53

154

214

Region

Note=8 X 5 AA tandem repeats of G-[PAVG]-E-E-[DAYSLE]

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

100_155

113

173

Region

Note=Involved in binding to CCT complex

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

14_53

113

173

Region

Note=8 X 5 AA tandem repeats of G-[PAVG]-E-E-[DAYSLE]

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

14_18

154

214

Repeat

Note=1

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

19_23

154

214

Repeat

Note=2

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

24_28

154

214

Repeat

Note=3

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

29_33

154

214

Repeat

Note=4

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

34_38

154

214

Repeat

Note=5

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

39_43

154

214

Repeat

Note=6

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

44_48

154

214

Repeat

Note=7

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000256474

49_53

154

214

Repeat

Note=8

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

14_18

113

173

Repeat

Note=1

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

19_23

113

173

Repeat

Note=2

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

24_28

113

173

Repeat

Note=3

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

29_33

113

173

Repeat

Note=4

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

34_38

113

173

Repeat

Note=5

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

39_43

113

173

Repeat

Note=6

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

44_48

113

173

Repeat

Note=7

Tgene

VHL

chr3:10219704

chr3:10191471

ENST00000345392

49_53

113

173

Repeat

Note=8

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FusionGeneSequence for IRAK2_VHL

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 IRAK2_VHL

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
IRAK2	MYD88, TRAF6, TIRAP, IL1R1, TLR3, PELI1, PELI2, PELI3, MME, TNFAIP3, IRAK1, IQSEC1, YTHDF1, ZC3H12C, ARAF, BAG3, ADCK3, CDC37, FASTKD5, IQCB1, SESTD1, SNRNP200, STT3A, TARDBP, ZC3H12A, IRAK3, IRAK4, SARM1, TOLLIP, PSEN1, HSP90AA1, TNFSF9, TUBA4A, N4BP2L2, TRIM25	VHL	FLNA, VBP1, JADE1, CUL2, CAB39, TGFB1I1, STK16, PFAS, TCEB1, PSMB1, TCEB2, RHOC, CNTF, TXN, APRT, CDK2, PKD1L3, FSCN1, IARS, PSMB3, RASGRP1, RAB1B, RBX1, NEDD8, TAGLN2, MOB4, CCDC59, JMJD1C, CDO1, PAPSS2, HIST1H2BC, CCDC82, PSMD13, TARS, TPT1, RPA3, KNTC1, MCC, PCMT1, CSTB, CSTF3, HAS1, RPS9, IMPDH2, ATXN2, CHMP2B, MYL12A, PPIB, PIN1, PSMC3, HIF1A, ZNF197, TRIM28, HIF1AN, HDAC1, HDAC2, HDAC3, FN1, CUL5, HNRNPA2B1, USP33, RIT1, NR4A1, POLR2A, SAP130, EPAS1, OSR1, DGKZ, SAT2, CYBA, DNAJA3, IREB2, TP53, EP300, KAT2B, ATM, USP20, TCEB3, POLR2G, HIF3A, CCT3, MCM7, PRKCI, DVL2, MYBBP1A, UBXN7, ADRB2, SPRY2, ANKRD40, CDKN2A, STUB1, CMC2, DDX17, DDX3X, DDX3Y, DDX5, DNAJA1, DNAJA2, EPHA4, GRWD1, COLGALT1, HNRNPDL, HNRNPH1, HNRNPH2, HNRNPLL, HNRNPC, HNRNPD, HNRNPL, HNRNPM, HNRNPR, EIF5A, EIF5A2, NKRF, RALYL, RBBP4, RBBP7, RPL12, RPL14, RPL18A, HNRNPA3, RPS11, RPS14, RPS17, RPS27L, RPS27, RPS2, RPS3A, RPS3, RPSA, SNRNP70, TUBA1A, TUBA3C, TUBA3E, TUBA4A, TCP1, CCT2, CCT4, CCT5, CCT7, CCT8, CCT6A, TRAFD1, UBR5, PRMT3, ACTB, BSG, COL4A1, COL4A2, COL4A3, COL4A5, COL4A6, COL6A1, CRTAP, FASTKD3, GRN, HNRNPK, HNRNPU, HSPA8, MIF, IVNS1ABP, P3H1, PARP1, PLOD2, PLOD3, PPM1B, RPL10A, RPL30, RPL7A, RPLP0, HNRNPA1, HNRNPAB, RPS15A, RPS5, STK38, TUBA3D, TUBB4B, VHL, XRCC5, SKP2, CLU, ELAVL1, MYC, PIAS4, TOP2A, CBX5, BCL2L11, CSNK2A1, PRKCD, JAK2, SOCS1, SOCS3, LIMD1, EGLN1, AJUBA, WTIP, LPP, ZYX, COPS5, GNB2L1, PRKCH, PRKCZ, DGKI, KIF2C, SARNP, CAPN7, YY1AP1, RBPMS2, RB1CC1, FKBP8, PTPN14, EXOSC8, KIF3A, KIF3B, KIFAP3, HSPA1A, PARD6A, PARD3, KLF4, SP1, CARD9, RNF7, MKNK2, UBE2D1, ALAS1, CDC34, APP, DCUN1D1, TGM2, FZR1, PCGF2, ZNF512B, CHEK2, KAT5, RPS6, NOB1, RPL11, LTV1, PRMT1, MSH4, UXT, AR, SON, EEF1B2, RPL21, RBPMS, VAPB, NCL, SLC2A1, CD44, SLC3A2, HIST4H4, CBR1, HIST1H1C, CAPZB, HIST1H2BL, LANCL1, HSPA5, PRDX1, RPL5, CBX1, CBX3, PRMT8, ILF3, PDCD5, PARK7, AURKA, GLI1, E2F1, SIRT1, HSPA4, HSP90AA1, MDFI, PLD1, UBC, UBE2D2, C1QB, C1QTNF2, CER1, KIRREL2, BCL2L14, COL9A1, KNG1, ASTL, RWDD3, GOLGA4, TRIP12, ZNF350, ID2, ID1, ID3, PLD2, TARDBP, GPLD1, CERKL, EPOR, DACT1, DACT2, RHOBTB3, UBE2S, HUWE1, USP9X, SMURF1, MAP3K1, PRKDC, CDK4, TSC1, CHEK1, APC, CDKN1B, KDM5C, ARID2, PTEN, PDGFRA, BRAF, RRM2, ARID1A, MAP2K1, PIK3R1, FGFR3, SMARCB1, CDK6, ROR1, CASP8, PBRM1, RPS6KB1, FLT3, VEGFA, SQSTM1, CEP68, ATF7IP, SETDB1, ARL14EP, OXT, AVP, CHIT1, INHBE, C1QL4, UTRN, ACTBL2, FAM19A3, AKT1, AKT2, PPP2CA, FASN, CAD

- Retained PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Still interaction with
Tgene	VHL	chr3:10219704	chr3:10191471	ENST00000256474	+	1	3	157_166	154	214	Elongin BC complex
Tgene	VHL	chr3:10219704	chr3:10191471	ENST00000345392	+	0	2	157_166	113	173	Elongin BC complex

- 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 IRAK2_VHL

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

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RelatedDiseases for IRAK2_VHL

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	VHL	C0019562	Von Hippel-Lindau Syndrome	17	CTD_human;ORPHANET;UNIPROT
Tgene	VHL	C0007134	Renal Cell Carcinoma	9	CTD_human;HPO
Tgene	VHL	C0031511	Pheochromocytoma	9	CTD_human;HPO;UNIPROT
Tgene	VHL	C1837915	ERYTHROCYTOSIS, FAMILIAL, 2	5	CTD_human;ORPHANET;UNIPROT
Tgene	VHL	C0001430	Adenoma	1	CTD_human
Tgene	VHL	C0022665	Kidney Neoplasm	1	CTD_human
Tgene	VHL	C0024121	Lung Neoplasms	1	CTD_human
Tgene	VHL	C0027708	Nephroblastoma	1	CTD_human
Tgene	VHL	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	UNIPROT

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Fusion gene ID: 17711

FusionGeneSummary for IRAK2_VHL

FusionProtFeatures for IRAK2_VHL

FusionGeneSequence for IRAK2_VHL

FusionGenePPI for IRAK2_VHL

RelatedDrugs for IRAK2_VHL

RelatedDiseases for IRAK2_VHL