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Fusion gene ID: 11049

FusionGeneSummary for EFHC1_TMEM164

Fusion gene summary

Fusion gene information	Fusion gene name: EFHC1_TMEM164
	Fusion gene ID: 11049
		Hgene	Tgene
	Gene symbol	EFHC1	TMEM164
	Gene ID	114327	84187
	Gene name	EF-hand domain containing 1	transmembrane protein 164
	Synonyms	EJM1\|dJ304B14.2	bB360B22.3
	Cytomap	6p12.2	Xq23
	Type of gene	protein-coding	protein-coding
	Description	EF-hand domain-containing protein 1EF-hand domain (C-terminal) containing 1myoclonin-1	transmembrane protein 164RP13-360B22.2
	Modification date	20180519	20180519
	UniProtAcc	Q5JVL4	Q5U3C3
	Ensembl transtripts involved in fusion gene	ENST00000371068, ENST00000491749, ENST00000433625, ENST00000538167,	ENST00000372072, ENST00000372073, ENST00000372068, ENST00000288381, ENST00000464177,
Fusion gene scores	* DoF score	9 X 9 X 4=324	1 X 1 X 1=1
	# samples	9	1
	** MAII score	log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(1/1*10)=3.32192809488736
Context	PubMed: EFHC1 [Title/Abstract] AND TMEM164 [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
ChiTaRS3.1			BC019032	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+

* 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-3UTR	ENST00000371068	ENST00000372072	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000371068	ENST00000372073	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000371068	ENST00000372068	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000371068	ENST00000288381	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-intron	ENST00000371068	ENST00000464177	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000491749	ENST00000372072	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000491749	ENST00000372073	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000491749	ENST00000372068	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000491749	ENST00000288381	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-intron	ENST00000491749	ENST00000464177	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000433625	ENST00000372072	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000433625	ENST00000372073	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000433625	ENST00000372068	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000433625	ENST00000288381	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-intron	ENST00000433625	ENST00000464177	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000538167	ENST00000372072	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000538167	ENST00000372073	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000538167	ENST00000372068	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-3UTR	ENST00000538167	ENST00000288381	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+
intron-intron	ENST00000538167	ENST00000464177	EFHC1	chr6	52366492	+	TMEM164	chrX	109419703	+

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FusionProtFeatures for EFHC1_TMEM164

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

Hgene	Tgene
EFHC1 Q5JVL4	TMEM164 Q5U3C3

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Fusion gene ID: 11049

FusionGeneSummary for EFHC1_TMEM164

FusionProtFeatures for EFHC1_TMEM164