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Fusion gene ID: 32618

FusionGeneSummary for SAP30BP_LLGL2

Fusion gene summary

Fusion gene information	Fusion gene name: SAP30BP_LLGL2
	Fusion gene ID: 32618
		Hgene	Tgene
	Gene symbol	SAP30BP	LLGL2
	Gene ID	29115	3993
	Gene name	SAP30 binding protein	LLGL2, scribble cell polarity complex component
	Synonyms	HCNGP\|HTRG\|HTRP	HGL\|Hugl-2\|LGL2
	Cytomap	17q25.1	17q25.1
	Type of gene	protein-coding	protein-coding
	Description	SAP30-binding proteinHSV-1 bindingtranscriptional regulator protein HCNGP	lethal(2) giant larvae protein homolog 2human giant larvae homologlethal giant larvae homolog 2, scribble cell polarity complex component
	Modification date	20180523	20180523
	UniProtAcc	Q9UHR5	Q6P1M3
	Ensembl transtripts involved in fusion gene	ENST00000584667, ENST00000355423, ENST00000579864,	ENST00000167462, ENST00000375227, ENST00000392550, ENST00000578363, ENST00000577200,
Fusion gene scores	* DoF score	11 X 5 X 9=495	6 X 5 X 5=150
	# samples	17	8
	** MAII score	log2(17/495*10)=-1.54189377882927 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/150*10)=-0.906890595608519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SAP30BP [Title/Abstract] AND LLGL2 [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
Hgene	SAP30BP	GO:0010942	positive regulation of cell death	15496587
Tgene	LLGL2	GO:0032878	regulation of establishment or maintenance of cell polarity	12725730

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	OV	TCGA-31-1951-01A	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+

* 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	ENST00000584667	ENST00000167462	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
Frame-shift	ENST00000584667	ENST00000375227	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
Frame-shift	ENST00000584667	ENST00000392550	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
Frame-shift	ENST00000584667	ENST00000578363	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
Frame-shift	ENST00000584667	ENST00000577200	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
intron-3CDS	ENST00000355423	ENST00000167462	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
intron-3CDS	ENST00000355423	ENST00000375227	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
intron-3CDS	ENST00000355423	ENST00000392550	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
intron-3CDS	ENST00000355423	ENST00000578363	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
intron-3CDS	ENST00000355423	ENST00000577200	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
3UTR-3CDS	ENST00000579864	ENST00000167462	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
3UTR-3CDS	ENST00000579864	ENST00000375227	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
3UTR-3CDS	ENST00000579864	ENST00000392550	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
3UTR-3CDS	ENST00000579864	ENST00000578363	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+
3UTR-3CDS	ENST00000579864	ENST00000577200	SAP30BP	chr17	73667943	+	LLGL2	chr17	73559097	+

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FusionProtFeatures for SAP30BP_LLGL2

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

Hgene	Tgene
SAP30BP Q9UHR5	LLGL2 Q6P1M3

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Fusion gene ID: 32618

FusionGeneSummary for SAP30BP_LLGL2

FusionProtFeatures for SAP30BP_LLGL2