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Fusion gene ID: 10419

FusionGeneSummary for DOCK8_JAK2

Fusion gene summary

Fusion gene information	Fusion gene name: DOCK8_JAK2
	Fusion gene ID: 10419
		Hgene	Tgene
	Gene symbol	DOCK8	JAK2
	Gene ID	81704	3717
	Gene name	dedicator of cytokinesis 8	Janus kinase 2
	Synonyms	HEL-205\|MRD2\|ZIR8	JTK10\|THCYT3
	Cytomap	9p24.3	9p24.1
	Type of gene	protein-coding	protein-coding
	Description	dedicator of cytokinesis protein 81200017A24Rikepididymis luminal protein 205	tyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase)
	Modification date	20180519	20180523
	UniProtAcc	Q8NF50	O60674
	Ensembl transtripts involved in fusion gene	ENST00000453981, ENST00000432829, ENST00000469391, ENST00000382331, ENST00000382329, ENST00000493666,	ENST00000539801, ENST00000381652, ENST00000544510, ENST00000487310,
Fusion gene scores	* DoF score	3 X 3 X 3=27	7 X 8 X 4=224
	# samples	3	9
	** MAII score	log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(9/224*10)=-1.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: DOCK8 [Title/Abstract] AND JAK2 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Oncogene involved fusion gene, in-frame and 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
Hgene	DOCK8	GO:0043547	positive regulation of GTPase activity	28028151
Tgene	JAK2	GO:0010811	positive regulation of cell-substrate adhesion	10925297
Tgene	JAK2	GO:0019221	cytokine-mediated signaling pathway	8609418
Tgene	JAK2	GO:0033209	tumor necrosis factor-mediated signaling pathway	8609418
Tgene	JAK2	GO:0034612	response to tumor necrosis factor	8609418
Tgene	JAK2	GO:0035409	histone H3-Y41 phosphorylation	19783980
Tgene	JAK2	GO:0035722	interleukin-12-mediated signaling pathway	7528775
Tgene	JAK2	GO:0046677	response to antibiotic	16280321
Tgene	JAK2	GO:0050727	regulation of inflammatory response	10925297
Tgene	JAK2	GO:0060396	growth hormone receptor signaling pathway	10925297
Tgene	JAK2	GO:0070671	response to interleukin-12	7528775

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	RV	KIRC	TCGA-BP-4983-01A	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+

* 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
Frame-shift	ENST00000453981	ENST00000539801	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
Frame-shift	ENST00000453981	ENST00000381652	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
Frame-shift	ENST00000453981	ENST00000544510	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
5CDS-intron	ENST00000453981	ENST00000487310	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
Frame-shift	ENST00000432829	ENST00000539801	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
Frame-shift	ENST00000432829	ENST00000381652	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
Frame-shift	ENST00000432829	ENST00000544510	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
5CDS-intron	ENST00000432829	ENST00000487310	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
Frame-shift	ENST00000469391	ENST00000539801	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
Frame-shift	ENST00000469391	ENST00000381652	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
Frame-shift	ENST00000469391	ENST00000544510	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
5CDS-intron	ENST00000469391	ENST00000487310	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-3CDS	ENST00000382331	ENST00000539801	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-3CDS	ENST00000382331	ENST00000381652	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-3CDS	ENST00000382331	ENST00000544510	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-intron	ENST00000382331	ENST00000487310	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-3CDS	ENST00000382329	ENST00000539801	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-3CDS	ENST00000382329	ENST00000381652	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-3CDS	ENST00000382329	ENST00000544510	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-intron	ENST00000382329	ENST00000487310	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-3CDS	ENST00000493666	ENST00000539801	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-3CDS	ENST00000493666	ENST00000381652	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-3CDS	ENST00000493666	ENST00000544510	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+
intron-intron	ENST00000493666	ENST00000487310	DOCK8	chr9	340321	+	JAK2	chr9	5050686	+

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FusionProtFeatures for DOCK8_JAK2

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

Hgene	Tgene
DOCK8 Q8NF50	JAK2 O60674

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Fusion gene ID: 10419

FusionGeneSummary for DOCK8_JAK2

FusionProtFeatures for DOCK8_JAK2