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Fusion gene ID: 11731

FusionGeneSummary for EPB41L1_ROMO1

Fusion gene summary

Fusion gene information	Fusion gene name: EPB41L1_ROMO1
	Fusion gene ID: 11731
		Hgene	Tgene
	Gene symbol	EPB41L1	ROMO1
	Gene ID	2036	140823
	Gene name	erythrocyte membrane protein band 4.1 like 1	reactive oxygen species modulator 1
	Synonyms	4.1N\|MRD11	C20orf52\|MTGM\|MTGMP\|bA353C18.2
	Cytomap	20q11.23	20q11.22
	Type of gene	protein-coding	protein-coding
	Description	band 4.1-like protein 1neuron-type nonerythroid protein 4.1neuronal protein 4.1	reactive oxygen species modulator 1PCM19ROS modulator 1epididymis tissue protein Li 175glyrichinmitochondrial targeting GXXXG proteinmitochondrial targeting GxxxG motif proteinprotein MGR2 homolog
	Modification date	20180523	20180523
	UniProtAcc	Q9H4G0	P60602
	Ensembl transtripts involved in fusion gene	ENST00000202028, ENST00000373950, ENST00000441639, ENST00000373946, ENST00000338074, ENST00000373941, ENST00000479336,	ENST00000374078, ENST00000374077, ENST00000374072, ENST00000397416, ENST00000336695,
Fusion gene scores	* DoF score	18 X 13 X 11=2574	5 X 5 X 3=75
	# samples	23	5
	** MAII score	log2(23/2574*10)=-3.48430628727633 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: EPB41L1 [Title/Abstract] AND ROMO1 [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	ROMO1	GO:0008284	positive regulation of cell proliferation	18313394
Tgene	ROMO1	GO:0031640	killing of cells of other organism	22083756
Tgene	ROMO1	GO:0042742	defense response to bacterium	22083756
Tgene	ROMO1	GO:0050829	defense response to Gram-negative bacterium	22083756
Tgene	ROMO1	GO:0050830	defense response to Gram-positive bacterium	22083756
Tgene	ROMO1	GO:0051715	cytolysis in other organism	22083756
Tgene	ROMO1	GO:2000379	positive regulation of reactive oxygen species metabolic process	16842742

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	LD	OV	TCGA-24-2026-01A	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+

* 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
intron-intron	ENST00000202028	ENST00000374078	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000202028	ENST00000374077	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000202028	ENST00000374072	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000202028	ENST00000397416	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-5UTR	ENST00000202028	ENST00000336695	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373950	ENST00000374078	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373950	ENST00000374077	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373950	ENST00000374072	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373950	ENST00000397416	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-5UTR	ENST00000373950	ENST00000336695	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000441639	ENST00000374078	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000441639	ENST00000374077	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000441639	ENST00000374072	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000441639	ENST00000397416	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-5UTR	ENST00000441639	ENST00000336695	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373946	ENST00000374078	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373946	ENST00000374077	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373946	ENST00000374072	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373946	ENST00000397416	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-5UTR	ENST00000373946	ENST00000336695	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000338074	ENST00000374078	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000338074	ENST00000374077	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000338074	ENST00000374072	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000338074	ENST00000397416	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-5UTR	ENST00000338074	ENST00000336695	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373941	ENST00000374078	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373941	ENST00000374077	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373941	ENST00000374072	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000373941	ENST00000397416	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-5UTR	ENST00000373941	ENST00000336695	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000479336	ENST00000374078	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000479336	ENST00000374077	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000479336	ENST00000374072	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-intron	ENST00000479336	ENST00000397416	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+
intron-5UTR	ENST00000479336	ENST00000336695	EPB41L1	chr20	34796268	+	ROMO1	chr20	34287440	+

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FusionProtFeatures for EPB41L1_ROMO1

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

Hgene	Tgene
EPB41L1 Q9H4G0	ROMO1 P60602

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Fusion gene ID: 11731

FusionGeneSummary for EPB41L1_ROMO1

FusionProtFeatures for EPB41L1_ROMO1