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Fusion gene ID: 33683

FusionGeneSummary for SH3PXD2A_RB1

Fusion gene summary

Fusion gene information	Fusion gene name: SH3PXD2A_RB1
	Fusion gene ID: 33683
		Hgene	Tgene
	Gene symbol	SH3PXD2A	RB1
	Gene ID	9644	5925
	Gene name	SH3 and PX domains 2A	RB transcriptional corepressor 1
	Synonyms	FISH\|SH3MD1\|TKS5	OSRC\|PPP1R130\|RB\|p105-Rb\|pRb\|pp110
	Cytomap	10q24.33	13q14.2
	Type of gene	protein-coding	protein-coding
	Description	SH3 and PX domain-containing protein 2ASH3 multiple domains 1adapter protein TKS5adaptor protein TKS5five SH3 domain-containing proteintyrosine kinase substrate with five SH3 domains	retinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblas
	Modification date	20180523	20180523
	UniProtAcc	Q5TCZ1	P06400
	Ensembl transtripts involved in fusion gene	ENST00000427662, ENST00000369774, ENST00000355946, ENST00000315994, ENST00000540321, ENST00000538130,	ENST00000267163, ENST00000484879,
Fusion gene scores	* DoF score	11 X 13 X 11=1573	7 X 5 X 5=175
	# samples	23	8
	** MAII score	log2(23/1573*10)=-2.77381290447131 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/175*10)=-1.12928301694497 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SH3PXD2A [Title/Abstract] AND RB1 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) 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
Hgene	SH3PXD2A	GO:0006801	superoxide metabolic process	19755710
Tgene	RB1	GO:0043550	regulation of lipid kinase activity	16286473
Tgene	RB1	GO:0045892	negative regulation of transcription, DNA-templated	10783144\|12065415\|19223331
Tgene	RB1	GO:2000679	positive regulation of transcription regulatory region DNA binding	25100735

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	OV	TCGA-24-1469-01A	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+

* 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	ENST00000427662	ENST00000267163	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
5CDS-intron	ENST00000427662	ENST00000484879	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
In-frame	ENST00000369774	ENST00000267163	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
5CDS-intron	ENST00000369774	ENST00000484879	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
In-frame	ENST00000355946	ENST00000267163	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
5CDS-intron	ENST00000355946	ENST00000484879	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
5UTR-3CDS	ENST00000315994	ENST00000267163	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
5UTR-intron	ENST00000315994	ENST00000484879	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
In-frame	ENST00000540321	ENST00000267163	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
5CDS-intron	ENST00000540321	ENST00000484879	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
In-frame	ENST00000538130	ENST00000267163	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+
5CDS-intron	ENST00000538130	ENST00000484879	SH3PXD2A	chr10	105371338	-	RB1	chr13	49039134	+

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FusionProtFeatures for SH3PXD2A_RB1

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

Hgene	Tgene
SH3PXD2A Q5TCZ1	RB1 P06400

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Fusion gene ID: 33683

FusionGeneSummary for SH3PXD2A_RB1

FusionProtFeatures for SH3PXD2A_RB1