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Fusion gene ID: 26469

FusionGeneSummary for PDGFRL_VPS37A

Fusion gene summary

Fusion gene information	Fusion gene name: PDGFRL_VPS37A
	Fusion gene ID: 26469
		Hgene	Tgene
	Gene symbol	PDGFRL	VPS37A
	Gene ID	5157	137492
	Gene name	platelet derived growth factor receptor like	VPS37A, ESCRT-I subunit
	Synonyms	PDGRL\|PRLTS	HCRP1\|PQBP2\|SPG53
	Cytomap	8p22	8p22
	Type of gene	protein-coding	protein-coding
	Description	platelet-derived growth factor receptor-like proteinPDGF receptor beta-like tumor suppressorPDGFR-like proteinplatelet-derived growth factor-beta-like tumor suppressor	vacuolar protein sorting-associated protein 37AESCRT-I complex subunit VPS37Ahepatocellular carcinoma-related protein 1polyglutamine binding protein 2vacuolar protein sorting 37 homolog A
	Modification date	20180329	20180522
	UniProtAcc	Q15198	Q8NEZ2
	Ensembl transtripts involved in fusion gene	ENST00000541323, ENST00000251630, ENST00000398074, ENST00000523248,	ENST00000324849, ENST00000324815, ENST00000521829, ENST00000521005, ENST00000521162,
Fusion gene scores	* DoF score	2 X 2 X 2=8	4 X 4 X 3=48
	# samples	2	4
	** MAII score	log2(2/8*10)=1.32192809488736	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PDGFRL [Title/Abstract] AND VPS37A [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Tumor suppressor gene involved fusion gene, in-frame but not 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

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	LUAD	TCGA-91-A4BC-01A	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+

* 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	ENST00000541323	ENST00000324849	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000541323	ENST00000324815	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000541323	ENST00000521829	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000541323	ENST00000521005	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000541323	ENST00000521162	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
In-frame	ENST00000251630	ENST00000324849	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000251630	ENST00000324815	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000251630	ENST00000521829	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000251630	ENST00000521005	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000251630	ENST00000521162	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
In-frame	ENST00000398074	ENST00000324849	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000398074	ENST00000324815	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000398074	ENST00000521829	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000398074	ENST00000521005	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
5CDS-intron	ENST00000398074	ENST00000521162	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
intron-3CDS	ENST00000523248	ENST00000324849	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
intron-intron	ENST00000523248	ENST00000324815	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
intron-intron	ENST00000523248	ENST00000521829	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
intron-intron	ENST00000523248	ENST00000521005	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+
intron-intron	ENST00000523248	ENST00000521162	PDGFRL	chr8	17447274	+	VPS37A	chr8	17132242	+

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FusionProtFeatures for PDGFRL_VPS37A

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

Hgene	Tgene
PDGFRL Q15198	VPS37A Q8NEZ2

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Fusion gene ID: 26469

FusionGeneSummary for PDGFRL_VPS37A

FusionProtFeatures for PDGFRL_VPS37A