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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:GIGYF2-EFHD1 (FusionGDB2 ID:33096)

Fusion Gene Summary for GIGYF2-EFHD1

Fusion gene summary

Fusion gene information	Fusion gene name: GIGYF2-EFHD1
	Fusion gene ID: 33096
		Hgene	Tgene
	Gene symbol	GIGYF2	EFHD1
	Gene ID	26058	80303
	Gene name	GRB10 interacting GYF protein 2	EF-hand domain family member D1
	Synonyms	GYF2\|PARK11\|PERQ2\|PERQ3\|TNRC15	MST133\|MSTP133\|PP3051\|SWS2
	Cytomap	2q37.1	2q37.1
	Type of gene	protein-coding	protein-coding
	Description	GRB10-interacting GYF protein 2PERQ amino acid rich, with GYF domain 3PERQ amino acid-rich with GYF domain-containing protein 2Parkinson disease (autosomal recessive, early onset) 11trinucleotide repeat-containing gene 15 protein	EF-hand domain-containing protein D1EF-hand domain-containing protein 1swiprosin-2
	Modification date	20200313	20200313
	UniProtAcc	Q6Y7W6	Q9BUP0
	Ensembl transtripts involved in fusion gene	ENST00000482666, ENST00000373563, ENST00000373566, ENST00000409196, ENST00000409451, ENST00000409480, ENST00000409547, ENST00000452341,	ENST00000264059, ENST00000409613, ENST00000409708, ENST00000410095,
Fusion gene scores	* DoF score	24 X 20 X 15=7200	5 X 6 X 7=210
	# samples	34	10
	** MAII score	log2(34/7200*10)=-4.40439025507934 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/210*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: GIGYF2 [Title/Abstract] AND EFHD1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	GIGYF2(233613792)-EFHD1(233537019), # samples:2 GIGYF2(233599948)-EFHD1(233527512), # samples:2 GIGYF2(233562102)-EFHD1(233546295), # samples:2
Anticipated loss of major functional domain due to fusion event.

* 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	GIGYF2	GO:0016441	posttranscriptional gene silencing	27157137
Hgene	GIGYF2	GO:0061157	mRNA destabilization	27157137

Fusion gene breakpoints across GIGYF2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across EFHD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	BRCA	TCGA-A8-A07U-01A	GIGYF2	chr2	233599948	-	EFHD1	chr2	233527512	+
ChimerDB4	BRCA	TCGA-A8-A07U-01A	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
ChimerDB4	BRCA	TCGA-B6-A0IJ-01A	GIGYF2	chr2	233613792	-	EFHD1	chr2	233537019	+
ChimerDB4	BRCA	TCGA-B6-A0IJ-01A	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
ChimerDB4	LUSC	TCGA-94-8491-01A	GIGYF2	chr2	233562102	-	EFHD1	chr2	233546295	+
ChimerDB4	LUSC	TCGA-94-8491	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
ChimerDB4	LUSC	TCGA-94-8491	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
ChimerDB4	UCS	TCGA-N8-A56S-01A	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+

Top

Fusion Gene ORF analysis for GIGYF2-EFHD1

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
3UTR-3CDS	ENST00000482666	ENST00000264059	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
3UTR-3CDS	ENST00000482666	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
3UTR-3CDS	ENST00000482666	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
3UTR-3CDS	ENST00000482666	ENST00000264059	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
3UTR-3CDS	ENST00000482666	ENST00000409613	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
3UTR-3CDS	ENST00000482666	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
3UTR-3CDS	ENST00000482666	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
3UTR-3CDS	ENST00000482666	ENST00000409613	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
3UTR-3CDS	ENST00000482666	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
3UTR-3CDS	ENST00000482666	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
3UTR-3CDS	ENST00000482666	ENST00000409708	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
3UTR-3CDS	ENST00000482666	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
3UTR-3CDS	ENST00000482666	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
3UTR-3CDS	ENST00000482666	ENST00000410095	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
3UTR-5UTR	ENST00000482666	ENST00000409708	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
3UTR-5UTR	ENST00000482666	ENST00000410095	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000373563	ENST00000409708	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000373563	ENST00000410095	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000373566	ENST00000409708	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000373566	ENST00000410095	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000409196	ENST00000409708	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000409196	ENST00000410095	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000409451	ENST00000409708	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000409451	ENST00000410095	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000409480	ENST00000409708	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000409480	ENST00000410095	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000409547	ENST00000409708	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5CDS-5UTR	ENST00000409547	ENST00000410095	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
5UTR-3CDS	ENST00000373563	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000373563	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000373563	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000373563	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000373563	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000373563	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000373563	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000373563	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000373566	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000373566	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000373566	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000373566	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000373566	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000373566	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000373566	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000373566	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409196	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409196	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409196	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409196	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409196	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409196	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409196	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409196	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409451	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409451	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409451	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409451	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409451	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409451	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409451	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409451	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409480	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409480	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409480	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409480	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409480	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409480	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409480	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409480	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409547	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409547	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409547	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409547	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409547	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409547	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
5UTR-3CDS	ENST00000409547	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
5UTR-3CDS	ENST00000409547	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
In-frame	ENST00000373563	ENST00000264059	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000373563	ENST00000264059	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000373563	ENST00000409613	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000373563	ENST00000409613	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000373563	ENST00000409708	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000373563	ENST00000410095	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000373566	ENST00000264059	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000373566	ENST00000264059	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000373566	ENST00000409613	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000373566	ENST00000409613	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000373566	ENST00000409708	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000373566	ENST00000410095	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409196	ENST00000264059	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000409196	ENST00000264059	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409196	ENST00000409613	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000409196	ENST00000409613	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409196	ENST00000409708	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409196	ENST00000410095	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409451	ENST00000264059	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000409451	ENST00000264059	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409451	ENST00000409613	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000409451	ENST00000409613	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409451	ENST00000409708	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409451	ENST00000410095	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409480	ENST00000264059	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000409480	ENST00000264059	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409480	ENST00000409613	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000409480	ENST00000409613	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409480	ENST00000409708	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409480	ENST00000410095	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409547	ENST00000264059	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000409547	ENST00000264059	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409547	ENST00000409613	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
In-frame	ENST00000409547	ENST00000409613	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409547	ENST00000409708	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
In-frame	ENST00000409547	ENST00000410095	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
intron-3CDS	ENST00000373563	ENST00000264059	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000373563	ENST00000409613	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000373563	ENST00000409708	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000373563	ENST00000410095	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000373566	ENST00000264059	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000373566	ENST00000409613	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000373566	ENST00000409708	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000373566	ENST00000410095	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409196	ENST00000264059	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409196	ENST00000409613	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409196	ENST00000409708	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409196	ENST00000410095	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409451	ENST00000264059	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409451	ENST00000409613	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409451	ENST00000409708	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409451	ENST00000410095	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409480	ENST00000264059	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409480	ENST00000409613	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409480	ENST00000409708	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409480	ENST00000410095	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409547	ENST00000264059	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409547	ENST00000409613	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409547	ENST00000409708	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000409547	ENST00000410095	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000452341	ENST00000264059	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
intron-3CDS	ENST00000452341	ENST00000264059	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
intron-3CDS	ENST00000452341	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
intron-3CDS	ENST00000452341	ENST00000264059	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000452341	ENST00000264059	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000452341	ENST00000409613	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
intron-3CDS	ENST00000452341	ENST00000409613	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
intron-3CDS	ENST00000452341	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
intron-3CDS	ENST00000452341	ENST00000409613	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000452341	ENST00000409613	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000452341	ENST00000409708	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
intron-3CDS	ENST00000452341	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
intron-3CDS	ENST00000452341	ENST00000409708	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000452341	ENST00000409708	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000452341	ENST00000410095	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
intron-3CDS	ENST00000452341	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+
intron-3CDS	ENST00000452341	ENST00000410095	GIGYF2	chr2	233562102	+	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000452341	ENST00000410095	GIGYF2	chr2	233589401	-	EFHD1	chr2	233546295	+
intron-3CDS	ENST00000482666	ENST00000264059	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
intron-3CDS	ENST00000482666	ENST00000409613	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
intron-3CDS	ENST00000482666	ENST00000409708	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
intron-3CDS	ENST00000482666	ENST00000410095	GIGYF2	chr2	233613792	+	EFHD1	chr2	233537019	+
intron-5UTR	ENST00000452341	ENST00000409708	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+
intron-5UTR	ENST00000452341	ENST00000410095	GIGYF2	chr2	233599948	+	EFHD1	chr2	233527512	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

Top

Fusion Genomic Features for GIGYF2-EFHD1

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+	1.02E-05	0.99998975
GIGYF2	chr2	233613792	+	EFHD1	chr2	233537018	+	8.25E-13	1
GIGYF2	chr2	233599948	+	EFHD1	chr2	233527511	+	1.42E-09	1
GIGYF2	chr2	233562102	+	EFHD1	chr2	233546294	+	1.02E-05	0.99998975
GIGYF2	chr2	233613792	+	EFHD1	chr2	233537018	+	8.25E-13	1
GIGYF2	chr2	233599948	+	EFHD1	chr2	233527511	+	1.42E-09	1

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for GIGYF2-EFHD1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:233613792/chr2:233537019)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
GIGYF2 Q6Y7W6	EFHD1 Q9BUP0
FUNCTION: Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931, PubMed:31439631). In the 4EHP-GYF2 complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (PubMed:31439631). Also recruits and bridges the association of the 4EHP complex with the decapping effector protein DDX6, which is required for the ZFP36/TTP-mediated down-regulation of AU-rich mRNA (PubMed:31439631). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors (PubMed:12771153). {ECO:0000269\|PubMed:12771153, ECO:0000269\|PubMed:22751931, ECO:0000269\|PubMed:31439631}.	FUNCTION: Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity). {ECO:0000250\|UniProtKB:Q9D4J1, ECO:0000269\|PubMed:26975899}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

40_50

1300.0

Motif

4EHP-binding motif

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

40_50

1321.0

Motif

4EHP-binding motif

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

40_50

1300.0

Motif

4EHP-binding motif

Tgene

EFHD1

chr2:233599948

chr2:233527512

ENST00000264059

103_114

100

240.0

Calcium binding

Tgene

EFHD1

chr2:233599948

chr2:233527512

ENST00000264059

139_150

100

240.0

Calcium binding

Tgene

EFHD1

chr2:233599948

chr2:233527512

ENST00000409613

103_114

144.0

Calcium binding

Tgene

EFHD1

chr2:233599948

chr2:233527512

ENST00000409613

139_150

144.0

Calcium binding

Tgene

EFHD1

chr2:233613792

chr2:233537019

ENST00000409613

103_114

144.0

Calcium binding

Tgene

EFHD1

chr2:233613792

chr2:233537019

ENST00000409613

139_150

144.0

Calcium binding

Tgene

EFHD1

chr2:233599948

chr2:233527512

ENST00000264059

126_161

100

240.0

Domain

EF-hand 2

Tgene

EFHD1

chr2:233599948

chr2:233527512

ENST00000409613

126_161

144.0

Domain

EF-hand 2

Tgene

EFHD1

chr2:233599948

chr2:233527512

ENST00000409613

90_125

144.0

Domain

EF-hand 1

Tgene

EFHD1

chr2:233613792

chr2:233537019

ENST00000409613

126_161

144.0

Domain

EF-hand 2

Tgene

EFHD1

chr2:233613792

chr2:233537019

ENST00000409613

90_125

144.0

Domain

EF-hand 1

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

106_111

1300.0

Compositional bias

Note=Poly-Gly

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

118_272

1300.0

Compositional bias

Note=Arg-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

1198_1252

1300.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

436_473

1300.0

Compositional bias

Note=Pro-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

607_1025

1300.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

738_888

1300.0

Compositional bias

Note=Glu-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

106_111

1321.0

Compositional bias

Note=Poly-Gly

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

118_272

1321.0

Compositional bias

Note=Arg-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

1198_1252

1321.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

436_473

1321.0

Compositional bias

Note=Pro-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

607_1025

1321.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

738_888

1321.0

Compositional bias

Note=Glu-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

106_111

1300.0

Compositional bias

Note=Poly-Gly

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

118_272

1300.0

Compositional bias

Note=Arg-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

1198_1252

1300.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

436_473

1300.0

Compositional bias

Note=Pro-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

607_1025

1300.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

738_888

1300.0

Compositional bias

Note=Glu-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

106_111

1300.0

Compositional bias

Note=Poly-Gly

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

118_272

1300.0

Compositional bias

Note=Arg-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

1198_1252

1300.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

436_473

1300.0

Compositional bias

Note=Pro-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

607_1025

1300.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

738_888

1300.0

Compositional bias

Note=Glu-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

106_111

1321.0

Compositional bias

Note=Poly-Gly

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

118_272

1321.0

Compositional bias

Note=Arg-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

1198_1252

1321.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

436_473

1321.0

Compositional bias

Note=Pro-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

607_1025

1321.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

738_888

1321.0

Compositional bias

Note=Glu-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

106_111

1300.0

Compositional bias

Note=Poly-Gly

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

118_272

1300.0

Compositional bias

Note=Arg-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

1198_1252

1300.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

436_473

1300.0

Compositional bias

Note=Pro-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

607_1025

1300.0

Compositional bias

Note=Gln-rich

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

738_888

1300.0

Compositional bias

Note=Glu-rich

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

533_581

1300.0

Domain

GYF

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

533_581

1321.0

Domain

GYF

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

533_581

1300.0

Domain

GYF

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

533_581

1300.0

Domain

GYF

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

533_581

1321.0

Domain

GYF

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

533_581

1300.0

Domain

GYF

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

280_310

1300.0

Motif

DDX6 binding motif

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

40_50

1300.0

Motif

4EHP-binding motif

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

280_310

1321.0

Motif

DDX6 binding motif

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

40_50

1321.0

Motif

4EHP-binding motif

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

280_310

1300.0

Motif

DDX6 binding motif

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

40_50

1300.0

Motif

4EHP-binding motif

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

280_310

1300.0

Motif

DDX6 binding motif

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

280_310

1321.0

Motif

DDX6 binding motif

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

280_310

1300.0

Motif

DDX6 binding motif

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000373563

547_563

1300.0

Region

Required for GRB10-binding

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409451

547_563

1321.0

Region

Required for GRB10-binding

Hgene

GIGYF2

chr2:233599948

chr2:233527512

ENST00000409547

547_563

1300.0

Region

Required for GRB10-binding

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000373563

547_563

1300.0

Region

Required for GRB10-binding

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409451

547_563

1321.0

Region

Required for GRB10-binding

Hgene

GIGYF2

chr2:233613792

chr2:233537019

ENST00000409547

547_563

1300.0

Region

Required for GRB10-binding

Tgene

EFHD1

chr2:233613792

chr2:233537019

ENST00000264059

103_114

150

240.0

Calcium binding

Tgene

EFHD1

chr2:233613792

chr2:233537019

ENST00000264059

139_150

150

240.0

Calcium binding

Tgene

EFHD1

chr2:233599948

chr2:233527512

ENST00000264059

90_125

100

240.0

Domain

EF-hand 1

Tgene

EFHD1

chr2:233613792

chr2:233537019

ENST00000264059

126_161

150

240.0

Domain

EF-hand 2

Tgene

EFHD1

chr2:233613792

chr2:233537019

ENST00000264059

90_125

150

240.0

Domain

EF-hand 1

Top

Fusion Gene Sequence for GIGYF2-EFHD1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for GIGYF2-EFHD1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs for GIGYF2-EFHD1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

Related Diseases for GIGYF2-EFHD1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source