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Fusion gene ID: 30177

FusionGeneSummary for RAD51B_GPHN

Fusion gene summary

Fusion gene information	Fusion gene name: RAD51B_GPHN
	Fusion gene ID: 30177
		Hgene	Tgene
	Gene symbol	RAD51B	GPHN
	Gene ID	5890	10243
	Gene name	RAD51 paralog B	gephyrin
	Synonyms	R51H2\|RAD51L1\|REC2	GEPH\|GPH\|GPHRYN\|HKPX1\|MOCODC
	Cytomap	14q24.1	14q23.3-q24.1
	Type of gene	protein-coding	protein-coding
	Description	DNA repair protein RAD51 homolog 2RAD51 homolog BRecA-like proteinrecombination repair protein	gephyrin
	Modification date	20180523	20180523
	UniProtAcc	O15315	Q9NQX3
	Ensembl transtripts involved in fusion gene	ENST00000487861, ENST00000471583, ENST00000487270, ENST00000488612, ENST00000390683, ENST00000469165,	ENST00000315266, ENST00000478722, ENST00000459628, ENST00000543237, ENST00000305960, ENST00000544752,
Fusion gene scores	* DoF score	13 X 9 X 7=819	9 X 13 X 12=1404
	# samples	15	20
	** MAII score	log2(15/819*10)=-2.44890095114513 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(20/1404*10)=-2.81147103052984 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RAD51B [Title/Abstract] AND GPHN [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
Tgene	GPHN	GO:0032324	molybdopterin cofactor biosynthetic process	26613940
Tgene	GPHN	GO:0097112	gamma-aminobutyric acid receptor clustering	26613940

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-43-A474-01A	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
TCGA	LD	STAD	TCGA-IP-7968-01A	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+

* 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	ENST00000487861	ENST00000315266	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
In-frame	ENST00000487861	ENST00000478722	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000487861	ENST00000459628	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000487861	ENST00000543237	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000487861	ENST00000305960	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-3UTR	ENST00000487861	ENST00000544752	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
In-frame	ENST00000471583	ENST00000315266	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
In-frame	ENST00000471583	ENST00000478722	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000471583	ENST00000459628	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000471583	ENST00000543237	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000471583	ENST00000305960	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-3UTR	ENST00000471583	ENST00000544752	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
In-frame	ENST00000487270	ENST00000315266	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
In-frame	ENST00000487270	ENST00000478722	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000487270	ENST00000459628	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000487270	ENST00000543237	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000487270	ENST00000305960	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-3UTR	ENST00000487270	ENST00000544752	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
In-frame	ENST00000488612	ENST00000315266	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
In-frame	ENST00000488612	ENST00000478722	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000488612	ENST00000459628	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000488612	ENST00000543237	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000488612	ENST00000305960	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-3UTR	ENST00000488612	ENST00000544752	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
In-frame	ENST00000390683	ENST00000315266	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
In-frame	ENST00000390683	ENST00000478722	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000390683	ENST00000459628	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000390683	ENST00000543237	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-intron	ENST00000390683	ENST00000305960	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
5CDS-3UTR	ENST00000390683	ENST00000544752	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
3UTR-3CDS	ENST00000469165	ENST00000315266	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
3UTR-3CDS	ENST00000469165	ENST00000478722	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
3UTR-intron	ENST00000469165	ENST00000459628	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
3UTR-intron	ENST00000469165	ENST00000543237	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
3UTR-intron	ENST00000469165	ENST00000305960	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+
3UTR-3UTR	ENST00000469165	ENST00000544752	RAD51B	chr14	68353921	+	GPHN	chr14	67626132	+

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FusionProtFeatures for RAD51B_GPHN

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

Hgene	Tgene
RAD51B O15315	GPHN Q9NQX3

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Fusion gene ID: 30177

FusionGeneSummary for RAD51B_GPHN

FusionProtFeatures for RAD51B_GPHN