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Fusion gene ID: 11764

FusionGeneSummary for EPB41_ITPR1

Fusion gene summary

Fusion gene information	Fusion gene name: EPB41_ITPR1
	Fusion gene ID: 11764
		Hgene	Tgene
	Gene symbol	EPB41	ITPR1
	Gene ID	2035	3708
	Gene name	erythrocyte membrane protein band 4.1	inositol 1,4,5-trisphosphate receptor type 1
	Synonyms	4.1R\|EL1\|HE	ACV\|CLA4\|INSP3R1\|IP3R\|IP3R1\|PPP1R94\|SCA15\|SCA16\|SCA29
	Cytomap	1p35.3	3p26.1
	Type of gene	protein-coding	protein-coding
	Description	protein 4.1EPB4.1P4.1band 4.1elliptocytosis 1, RH-linkederythrocyte surface protein band 4.1	inositol 1,4,5-trisphosphate receptor type 1IP3 receptorIP3R 1inositol 1,4,5-triphosphate receptor, type 1protein phosphatase 1, regulatory subunit 94type 1 InsP3 receptortype 1 inositol 1,4,5-trisphosphate receptor
	Modification date	20180523	20180523
	UniProtAcc	P11171	Q14643
	Ensembl transtripts involved in fusion gene	ENST00000356093, ENST00000398863, ENST00000343067, ENST00000349460, ENST00000373800, ENST00000347529, ENST00000373798, ENST00000373797, ENST00000460378,	ENST00000302640, ENST00000354582, ENST00000423119, ENST00000456211, ENST00000357086, ENST00000544951, ENST00000443694, ENST00000463980,
Fusion gene scores	* DoF score	14 X 12 X 9=1512	8 X 8 X 7=448
	# samples	16	15
	** MAII score	log2(16/1512*10)=-3.24031432933371 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(15/448*10)=-1.57853623156172 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: EPB41 [Title/Abstract] AND ITPR1 [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
Hgene	EPB41	GO:0032092	positive regulation of protein binding	3693401
Tgene	ITPR1	GO:0001666	response to hypoxia	19120137
Tgene	ITPR1	GO:0050849	negative regulation of calcium-mediated signaling	16793548

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	SKCM	TCGA-EB-A4XL-01A	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+

* 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	ENST00000356093	ENST00000302640	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000356093	ENST00000354582	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000356093	ENST00000423119	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000356093	ENST00000456211	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000356093	ENST00000357086	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000356093	ENST00000544951	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000356093	ENST00000443694	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000356093	ENST00000463980	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000398863	ENST00000302640	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000398863	ENST00000354582	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000398863	ENST00000423119	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000398863	ENST00000456211	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000398863	ENST00000357086	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000398863	ENST00000544951	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000398863	ENST00000443694	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000398863	ENST00000463980	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000343067	ENST00000302640	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000343067	ENST00000354582	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000343067	ENST00000423119	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000343067	ENST00000456211	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000343067	ENST00000357086	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000343067	ENST00000544951	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000343067	ENST00000443694	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000343067	ENST00000463980	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000349460	ENST00000302640	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000349460	ENST00000354582	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000349460	ENST00000423119	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000349460	ENST00000456211	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000349460	ENST00000357086	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000349460	ENST00000544951	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000349460	ENST00000443694	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000349460	ENST00000463980	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373800	ENST00000302640	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373800	ENST00000354582	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373800	ENST00000423119	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373800	ENST00000456211	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373800	ENST00000357086	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-intron	ENST00000373800	ENST00000544951	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-intron	ENST00000373800	ENST00000443694	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-intron	ENST00000373800	ENST00000463980	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000347529	ENST00000302640	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000347529	ENST00000354582	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000347529	ENST00000423119	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000347529	ENST00000456211	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000347529	ENST00000357086	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000347529	ENST00000544951	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000347529	ENST00000443694	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000347529	ENST00000463980	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000373798	ENST00000302640	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000373798	ENST00000354582	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000373798	ENST00000423119	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000373798	ENST00000456211	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
In-frame	ENST00000373798	ENST00000357086	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000373798	ENST00000544951	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000373798	ENST00000443694	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
5CDS-intron	ENST00000373798	ENST00000463980	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373797	ENST00000302640	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373797	ENST00000354582	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373797	ENST00000423119	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373797	ENST00000456211	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-3CDS	ENST00000373797	ENST00000357086	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-intron	ENST00000373797	ENST00000544951	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-intron	ENST00000373797	ENST00000443694	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
intron-intron	ENST00000373797	ENST00000463980	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
3UTR-3CDS	ENST00000460378	ENST00000302640	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
3UTR-3CDS	ENST00000460378	ENST00000354582	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
3UTR-3CDS	ENST00000460378	ENST00000423119	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
3UTR-3CDS	ENST00000460378	ENST00000456211	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
3UTR-3CDS	ENST00000460378	ENST00000357086	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
3UTR-intron	ENST00000460378	ENST00000544951	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
3UTR-intron	ENST00000460378	ENST00000443694	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+
3UTR-intron	ENST00000460378	ENST00000463980	EPB41	chr1	29435949	+	ITPR1	chr3	4774772	+

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FusionProtFeatures for EPB41_ITPR1

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

Hgene	Tgene
EPB41 P11171	ITPR1 Q14643

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Fusion gene ID: 11764

FusionGeneSummary for EPB41_ITPR1

FusionProtFeatures for EPB41_ITPR1