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Fusion gene ID: 2744

FusionGeneSummary for ARL8B_ITPR1

Fusion gene summary

Fusion gene information	Fusion gene name: ARL8B_ITPR1
	Fusion gene ID: 2744
		Hgene	Tgene
	Gene symbol	ARL8B	ITPR1
	Gene ID	55207	3708
	Gene name	ADP ribosylation factor like GTPase 8B	inositol 1,4,5-trisphosphate receptor type 1
	Synonyms	ARL10C\|Gie1	ACV\|CLA4\|INSP3R1\|IP3R\|IP3R1\|PPP1R94\|SCA15\|SCA16\|SCA29
	Cytomap	3p26.1	3p26.1
	Type of gene	protein-coding	protein-coding
	Description	ADP-ribosylation factor-like protein 8BADP-ribosylation factor-like 10CADP-ribosylation factor-like 8BADP-ribosylation factor-like protein 10Cnovel small G protein indispensable for equal chromosome segregation 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	Q9NVJ2	Q14643
	Ensembl transtripts involved in fusion gene	ENST00000256496, ENST00000419534, ENST00000468010,	ENST00000302640, ENST00000354582, ENST00000423119, ENST00000456211, ENST00000357086, ENST00000544951, ENST00000443694, ENST00000463980,
Fusion gene scores	* DoF score	4 X 2 X 5=40	8 X 8 X 7=448
	# samples	6	15
	** MAII score	log2(6/40*10)=0.584962500721156 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: ARL8B [Title/Abstract] AND ITPR1 [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	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	BLCA	TCGA-K4-A83P-01A	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
TCGA	RV	CESC	TCGA-JW-A5VJ-01A	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
TCGA	RV	CESC	TCGA-EA-A50E-01A	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+

* 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	ENST00000256496	ENST00000302640	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
In-frame	ENST00000256496	ENST00000354582	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
In-frame	ENST00000256496	ENST00000423119	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
In-frame	ENST00000256496	ENST00000456211	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
In-frame	ENST00000256496	ENST00000357086	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
5CDS-intron	ENST00000256496	ENST00000544951	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
5CDS-intron	ENST00000256496	ENST00000443694	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
5CDS-intron	ENST00000256496	ENST00000463980	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
In-frame	ENST00000419534	ENST00000302640	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
In-frame	ENST00000419534	ENST00000354582	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
In-frame	ENST00000419534	ENST00000423119	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
In-frame	ENST00000419534	ENST00000456211	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
In-frame	ENST00000419534	ENST00000357086	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
5CDS-intron	ENST00000419534	ENST00000544951	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
5CDS-intron	ENST00000419534	ENST00000443694	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
5CDS-intron	ENST00000419534	ENST00000463980	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
intron-3CDS	ENST00000468010	ENST00000302640	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
intron-3CDS	ENST00000468010	ENST00000354582	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
intron-3CDS	ENST00000468010	ENST00000423119	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
intron-3CDS	ENST00000468010	ENST00000456211	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
intron-3CDS	ENST00000468010	ENST00000357086	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
intron-intron	ENST00000468010	ENST00000544951	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
intron-intron	ENST00000468010	ENST00000443694	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
intron-intron	ENST00000468010	ENST00000463980	ARL8B	chr3	5164273	+	ITPR1	chr3	4808214	+
Frame-shift	ENST00000256496	ENST00000302640	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
Frame-shift	ENST00000256496	ENST00000354582	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
Frame-shift	ENST00000256496	ENST00000423119	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
In-frame	ENST00000256496	ENST00000456211	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
In-frame	ENST00000256496	ENST00000357086	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
Frame-shift	ENST00000256496	ENST00000544951	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
In-frame	ENST00000256496	ENST00000443694	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
5CDS-3UTR	ENST00000256496	ENST00000463980	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
Frame-shift	ENST00000419534	ENST00000302640	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
Frame-shift	ENST00000419534	ENST00000354582	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
Frame-shift	ENST00000419534	ENST00000423119	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
In-frame	ENST00000419534	ENST00000456211	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
In-frame	ENST00000419534	ENST00000357086	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
Frame-shift	ENST00000419534	ENST00000544951	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
In-frame	ENST00000419534	ENST00000443694	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
5CDS-3UTR	ENST00000419534	ENST00000463980	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
intron-3CDS	ENST00000468010	ENST00000302640	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
intron-3CDS	ENST00000468010	ENST00000354582	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
intron-3CDS	ENST00000468010	ENST00000423119	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
intron-3CDS	ENST00000468010	ENST00000456211	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
intron-3CDS	ENST00000468010	ENST00000357086	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
intron-3CDS	ENST00000468010	ENST00000544951	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
intron-3CDS	ENST00000468010	ENST00000443694	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+
intron-3UTR	ENST00000468010	ENST00000463980	ARL8B	chr3	5164273	+	ITPR1	chr3	4887823	+

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FusionProtFeatures for ARL8B_ITPR1

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

Hgene	Tgene
ARL8B Q9NVJ2	ITPR1 Q14643

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Fusion gene ID: 2744

FusionGeneSummary for ARL8B_ITPR1

FusionProtFeatures for ARL8B_ITPR1