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Fusion gene ID: 30106

FusionGeneSummary for RABEPK_PIK3R1

Fusion gene summary

Fusion gene information	Fusion gene name: RABEPK_PIK3R1
	Fusion gene ID: 30106
		Hgene	Tgene
	Gene symbol	RABEPK	PIK3R1
	Gene ID	10244	5295
	Gene name	Rab9 effector protein with kelch motifs	phosphoinositide-3-kinase regulatory subunit 1
	Synonyms	RAB9P40\|bA65N13.1\|p40	AGM7\|GRB1\|IMD36\|p85\|p85-ALPHA
	Cytomap	9q33.3	5q13.1
	Type of gene	protein-coding	protein-coding
	Description	rab9 effector protein with kelch motifs40 kDa Rab9 effector proteinRab9 effector p40	phosphatidylinositol 3-kinase regulatory subunit alphaPI3-kinase subunit p85-alphaPI3K regulatory subunit alphaphosphatidylinositol 3-kinase 85 kDa regulatory subunit alphaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)ph
	Modification date	20180519	20180523
	UniProtAcc	Q7Z6M1	P27986
	Ensembl transtripts involved in fusion gene	ENST00000259460, ENST00000394125, ENST00000373544, ENST00000394124, ENST00000373538,	ENST00000521381, ENST00000521657, ENST00000517643, ENST00000274335, ENST00000396611, ENST00000320694, ENST00000336483, ENST00000523872,
Fusion gene scores	* DoF score	2 X 2 X 2=8	6 X 6 X 3=108
	# samples	2	6
	** MAII score	log2(2/8*10)=1.32192809488736	log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RABEPK [Title/Abstract] AND PIK3R1 [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
Tgene	PIK3R1	GO:0014065	phosphatidylinositol 3-kinase signaling	7782332
Tgene	PIK3R1	GO:0034976	response to endoplasmic reticulum stress	20348923
Tgene	PIK3R1	GO:0042307	positive regulation of protein import into nucleus	20348923
Tgene	PIK3R1	GO:0048009	insulin-like growth factor receptor signaling pathway	7782332
Tgene	PIK3R1	GO:0050821	protein stabilization	20348923
Tgene	PIK3R1	GO:0060396	growth hormone receptor signaling pathway	7782332

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	LUSC	TCGA-18-3421-01A	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+

* 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	ENST00000259460	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
In-frame	ENST00000259460	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000259460	ENST00000517643	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000259460	ENST00000274335	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000259460	ENST00000396611	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000259460	ENST00000320694	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000259460	ENST00000336483	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000259460	ENST00000523872	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
In-frame	ENST00000394125	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
In-frame	ENST00000394125	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394125	ENST00000517643	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394125	ENST00000274335	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394125	ENST00000396611	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394125	ENST00000320694	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394125	ENST00000336483	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394125	ENST00000523872	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
In-frame	ENST00000373544	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
In-frame	ENST00000373544	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373544	ENST00000517643	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373544	ENST00000274335	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373544	ENST00000396611	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373544	ENST00000320694	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373544	ENST00000336483	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373544	ENST00000523872	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
In-frame	ENST00000394124	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
In-frame	ENST00000394124	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394124	ENST00000517643	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394124	ENST00000274335	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394124	ENST00000396611	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394124	ENST00000320694	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394124	ENST00000336483	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000394124	ENST00000523872	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
In-frame	ENST00000373538	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
In-frame	ENST00000373538	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373538	ENST00000517643	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373538	ENST00000274335	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373538	ENST00000396611	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373538	ENST00000320694	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373538	ENST00000336483	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
5CDS-intron	ENST00000373538	ENST00000523872	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+

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FusionProtFeatures for RABEPK_PIK3R1

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

Hgene	Tgene
RABEPK Q7Z6M1	PIK3R1 P27986

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Fusion gene ID: 30106

FusionGeneSummary for RABEPK_PIK3R1

FusionProtFeatures for RABEPK_PIK3R1