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Fusion gene ID: 3518

FusionGeneSummary for ATP9A_EPB41L1

Fusion gene summary

Fusion gene information	Fusion gene name: ATP9A_EPB41L1
	Fusion gene ID: 3518
		Hgene	Tgene
	Gene symbol	ATP9A	EPB41L1
	Gene ID	10079	2036
	Gene name	ATPase phospholipid transporting 9A (putative)	erythrocyte membrane protein band 4.1 like 1
	Synonyms	ATPIIA	4.1N\|MRD11
	Cytomap	20q13.2	20q11.23
	Type of gene	protein-coding	protein-coding
	Description	probable phospholipid-transporting ATPase IIAATPase type IV, phospholipid-transporting (P-type),(putative)ATPase, class II, type 9Aphospholipid-transporting ATPase IIA	band 4.1-like protein 1neuron-type nonerythroid protein 4.1neuronal protein 4.1
	Modification date	20180523	20180523
	UniProtAcc	O75110	Q9H4G0
	Ensembl transtripts involved in fusion gene	ENST00000311637, ENST00000338821, ENST00000402822, ENST00000477492,	ENST00000202028, ENST00000373950, ENST00000441639, ENST00000373946, ENST00000338074, ENST00000373941, ENST00000479336,
Fusion gene scores	* DoF score	9 X 8 X 7=504	9 X 8 X 7=504
	# samples	9	11
	** MAII score	log2(9/504*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/504*10)=-2.19592020997526 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ATP9A [Title/Abstract] AND EPB41L1 [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

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-XF-A8HD-01A	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+

* 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
5CDS-5UTR	ENST00000311637	ENST00000202028	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000311637	ENST00000373950	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000311637	ENST00000441639	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000311637	ENST00000373946	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000311637	ENST00000338074	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000311637	ENST00000373941	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-intron	ENST00000311637	ENST00000479336	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000338821	ENST00000202028	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000338821	ENST00000373950	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000338821	ENST00000441639	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000338821	ENST00000373946	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000338821	ENST00000338074	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000338821	ENST00000373941	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-intron	ENST00000338821	ENST00000479336	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000402822	ENST00000202028	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000402822	ENST00000373950	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000402822	ENST00000441639	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000402822	ENST00000373946	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000402822	ENST00000338074	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-5UTR	ENST00000402822	ENST00000373941	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
5CDS-intron	ENST00000402822	ENST00000479336	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
intron-5UTR	ENST00000477492	ENST00000202028	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
intron-5UTR	ENST00000477492	ENST00000373950	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
intron-5UTR	ENST00000477492	ENST00000441639	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
intron-5UTR	ENST00000477492	ENST00000373946	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
intron-5UTR	ENST00000477492	ENST00000338074	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
intron-5UTR	ENST00000477492	ENST00000373941	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+
intron-intron	ENST00000477492	ENST00000479336	ATP9A	chr20	50329505	-	EPB41L1	chr20	34763473	+

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FusionProtFeatures for ATP9A_EPB41L1

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

Hgene	Tgene
ATP9A O75110	EPB41L1 Q9H4G0

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Fusion gene ID: 3518

FusionGeneSummary for ATP9A_EPB41L1

FusionProtFeatures for ATP9A_EPB41L1