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Fusion gene ID: 30280

FusionGeneSummary for RALGAPB_ITCH

Fusion gene summary

Fusion gene information	Fusion gene name: RALGAPB_ITCH
	Fusion gene ID: 30280
		Hgene	Tgene
	Gene symbol	RALGAPB	ITCH
	Gene ID	57148	83737
	Gene name	Ral GTPase activating protein non-catalytic beta subunit	itchy E3 ubiquitin protein ligase
	Synonyms	KIAA1219\|RalGAPbeta	ADMFD\|AIF4\|AIP4\|NAPP1
	Cytomap	20q11.23	20q11.22
	Type of gene	protein-coding	protein-coding
	Description	ral GTPase-activating protein subunit betaRal GTPase activating protein, beta subunit (non-catalytic)	E3 ubiquitin-protein ligase Itchy homologHECT-type E3 ubiquitin transferase Itchy homologNFE2-associated polypeptide 1atrophin-1 interacting protein 4itchy E3 ubiquitin protein ligase homolog
	Modification date	20180523	20180523
	UniProtAcc	Q86X10	Q96J02
	Ensembl transtripts involved in fusion gene	ENST00000262879, ENST00000397042, ENST00000397038, ENST00000537204, ENST00000397040, ENST00000490114,	ENST00000374864, ENST00000535650, ENST00000262650, ENST00000483727,
Fusion gene scores	* DoF score	11 X 10 X 8=880	8 X 8 X 5=320
	# samples	12	9
	** MAII score	log2(12/880*10)=-2.87446911791614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/320*10)=-1.83007499855769 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RALGAPB [Title/Abstract] AND ITCH [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Kinase involved fusion gene, inframe and retained kinase 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	ITCH	GO:0006511	ubiquitin-dependent protein catabolic process	15678106
Tgene	ITCH	GO:0016567	protein ubiquitination	17592138\|25631046
Tgene	ITCH	GO:0035519	protein K29-linked ubiquitination	17028573\|18628966
Tgene	ITCH	GO:0070534	protein K63-linked ubiquitination	18718448\|19592251
Tgene	ITCH	GO:0070936	protein K48-linked ubiquitination	19881509

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	COAD	TCGA-A6-2675-01A	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+

* 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	ENST00000262879	ENST00000374864	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-5UTR	ENST00000262879	ENST00000535650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-5UTR	ENST00000262879	ENST00000262650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-intron	ENST00000262879	ENST00000483727	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
In-frame	ENST00000397042	ENST00000374864	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-5UTR	ENST00000397042	ENST00000535650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-5UTR	ENST00000397042	ENST00000262650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-intron	ENST00000397042	ENST00000483727	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
In-frame	ENST00000397038	ENST00000374864	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-5UTR	ENST00000397038	ENST00000535650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-5UTR	ENST00000397038	ENST00000262650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-intron	ENST00000397038	ENST00000483727	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
intron-3CDS	ENST00000537204	ENST00000374864	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
intron-5UTR	ENST00000537204	ENST00000535650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
intron-5UTR	ENST00000537204	ENST00000262650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
intron-intron	ENST00000537204	ENST00000483727	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
In-frame	ENST00000397040	ENST00000374864	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-5UTR	ENST00000397040	ENST00000535650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-5UTR	ENST00000397040	ENST00000262650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
5CDS-intron	ENST00000397040	ENST00000483727	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
intron-3CDS	ENST00000490114	ENST00000374864	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
intron-5UTR	ENST00000490114	ENST00000535650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
intron-5UTR	ENST00000490114	ENST00000262650	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+
intron-intron	ENST00000490114	ENST00000483727	RALGAPB	chr20	37199490	+	ITCH	chr20	33000321	+

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FusionProtFeatures for RALGAPB_ITCH

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

Hgene	Tgene
RALGAPB Q86X10	ITCH Q96J02

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Fusion gene ID: 30280

FusionGeneSummary for RALGAPB_ITCH

FusionProtFeatures for RALGAPB_ITCH