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Fusion gene ID: 865

FusionGeneSummary for ADD1_ATP2B4

Fusion gene summary

Fusion gene information	Fusion gene name: ADD1_ATP2B4
	Fusion gene ID: 865
		Hgene	Tgene
	Gene symbol	ADD1	ATP2B4
	Gene ID	118	493
	Gene name	adducin 1	ATPase plasma membrane Ca2+ transporting 4
	Synonyms	ADDA	ATP2B2\|MXRA1\|PMCA4\|PMCA4b\|PMCA4x
	Cytomap	4p16.3	1q32.1
	Type of gene	protein-coding	protein-coding
	Description	alpha-adducinadducin 1 (alpha)erythrocyte adducin alpha subunit	plasma membrane calcium-transporting ATPase 4ATPase, Ca++ transporting, plasma membrane 4matrix-remodeling-associated protein 1sarcolemmal calcium pump
	Modification date	20180523	20180523
	UniProtAcc	P35611	P23634
	Ensembl transtripts involved in fusion gene	ENST00000446856, ENST00000264758, ENST00000398125, ENST00000513328, ENST00000503455, ENST00000355842, ENST00000398123, ENST00000398129, ENST00000538860,	ENST00000357681, ENST00000391954, ENST00000367218, ENST00000367219, ENST00000341360, ENST00000466407,
Fusion gene scores	* DoF score	11 X 8 X 7=616	10 X 9 X 6=540
	# samples	13	10
	** MAII score	log2(13/616*10)=-2.24441872766645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/540*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ADD1 [Title/Abstract] AND ATP2B4 [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	ADD1	GO:0032092	positive regulation of protein binding	3693401\|7642559
Hgene	ADD1	GO:0051016	barbed-end actin filament capping	8626479
Hgene	ADD1	GO:0051017	actin filament bundle assembly	3693401
Hgene	ADD1	GO:0071277	cellular response to calcium ion	25978380
Hgene	ADD1	GO:1903142	positive regulation of establishment of endothelial barrier	25978380
Hgene	ADD1	GO:1903393	positive regulation of adherens junction organization	25978380
Tgene	ATP2B4	GO:0006874	cellular calcium ion homeostasis	19278978
Tgene	ATP2B4	GO:0010751	negative regulation of nitric oxide mediated signal transduction	19278978
Tgene	ATP2B4	GO:0033138	positive regulation of peptidyl-serine phosphorylation	19278978
Tgene	ATP2B4	GO:0045019	negative regulation of nitric oxide biosynthetic process	11591728\|19278978
Tgene	ATP2B4	GO:0051001	negative regulation of nitric-oxide synthase activity	11591728\|17242280\|19278978\|19287093
Tgene	ATP2B4	GO:0070885	negative regulation of calcineurin-NFAT signaling cascade	19287093
Tgene	ATP2B4	GO:0071872	cellular response to epinephrine stimulus	19278978
Tgene	ATP2B4	GO:0098736	negative regulation of the force of heart contraction	17242280
Tgene	ATP2B4	GO:0140199	negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process	17242280
Tgene	ATP2B4	GO:1900082	negative regulation of arginine catabolic process	19278978
Tgene	ATP2B4	GO:1903249	negative regulation of citrulline biosynthetic process	19278978
Tgene	ATP2B4	GO:2000481	positive regulation of cAMP-dependent protein kinase activity	19278978

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	LGG	TCGA-HT-7606-01A	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+

* 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	ENST00000446856	ENST00000357681	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000446856	ENST00000391954	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000446856	ENST00000367218	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000446856	ENST00000367219	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000446856	ENST00000341360	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000446856	ENST00000466407	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000264758	ENST00000357681	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000264758	ENST00000391954	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000264758	ENST00000367218	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000264758	ENST00000367219	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000264758	ENST00000341360	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000264758	ENST00000466407	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000398125	ENST00000357681	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000398125	ENST00000391954	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000398125	ENST00000367218	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000398125	ENST00000367219	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000398125	ENST00000341360	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000398125	ENST00000466407	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-3CDS	ENST00000513328	ENST00000357681	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-3CDS	ENST00000513328	ENST00000391954	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-3CDS	ENST00000513328	ENST00000367218	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-intron	ENST00000513328	ENST00000367219	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-intron	ENST00000513328	ENST00000341360	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-intron	ENST00000513328	ENST00000466407	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-3CDS	ENST00000503455	ENST00000357681	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-3CDS	ENST00000503455	ENST00000391954	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-3CDS	ENST00000503455	ENST00000367218	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-intron	ENST00000503455	ENST00000367219	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-intron	ENST00000503455	ENST00000341360	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-intron	ENST00000503455	ENST00000466407	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000355842	ENST00000357681	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000355842	ENST00000391954	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
In-frame	ENST00000355842	ENST00000367218	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000355842	ENST00000367219	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000355842	ENST00000341360	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000355842	ENST00000466407	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-3CDS	ENST00000398123	ENST00000357681	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-3CDS	ENST00000398123	ENST00000391954	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-3CDS	ENST00000398123	ENST00000367218	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-intron	ENST00000398123	ENST00000367219	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-intron	ENST00000398123	ENST00000341360	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
intron-intron	ENST00000398123	ENST00000466407	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
3UTR-3CDS	ENST00000398129	ENST00000357681	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
3UTR-3CDS	ENST00000398129	ENST00000391954	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
3UTR-3CDS	ENST00000398129	ENST00000367218	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
3UTR-intron	ENST00000398129	ENST00000367219	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
3UTR-intron	ENST00000398129	ENST00000341360	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
3UTR-intron	ENST00000398129	ENST00000466407	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
Frame-shift	ENST00000538860	ENST00000357681	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
Frame-shift	ENST00000538860	ENST00000391954	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
Frame-shift	ENST00000538860	ENST00000367218	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000538860	ENST00000367219	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000538860	ENST00000341360	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+
5CDS-intron	ENST00000538860	ENST00000466407	ADD1	chr4	2931789	+	ATP2B4	chr1	203671172	+

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FusionProtFeatures for ADD1_ATP2B4

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

Hgene	Tgene
ADD1 P35611	ATP2B4 P23634

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Fusion gene ID: 865

FusionGeneSummary for ADD1_ATP2B4

FusionProtFeatures for ADD1_ATP2B4