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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:ANK2-ANK2 (FusionGDB2 ID:4352)

Fusion Gene Summary for ANK2-ANK2

Fusion gene summary

Fusion gene information	Fusion gene name: ANK2-ANK2
	Fusion gene ID: 4352
		Hgene	Tgene
	Gene symbol	ANK2	ANK2
	Gene ID	287	287
	Gene name	ankyrin 2	ankyrin 2
	Synonyms	ANK-2\|CFAP87\|FAP87\|LQT4\|brank-2	ANK-2\|CFAP87\|FAP87\|LQT4\|brank-2
	Cytomap	4q25-q26	4q25-q26
	Type of gene	protein-coding	protein-coding
	Description	ankyrin-2ankyrin 2, neuronalankyrin Bankyrin, brainankyrin-2, nonerythrocyticnon-erythroid ankyrin	ankyrin-2ankyrin 2, neuronalankyrin Bankyrin, brainankyrin-2, nonerythrocyticnon-erythroid ankyrin
	Modification date	20200313	20200313
	UniProtAcc	Q01484	Q01484
	Ensembl transtripts involved in fusion gene	ENST00000264366, ENST00000357077, ENST00000394537, ENST00000504887, ENST00000506722, ENST00000509550, ENST00000510275,	ENST00000264366, ENST00000357077, ENST00000394537, ENST00000504887, ENST00000506722, ENST00000509550, ENST00000510275,
Fusion gene scores	* DoF score	11 X 12 X 4=528	11 X 15 X 3=495
	# samples	15	15
	** MAII score	log2(15/528*10)=-1.81557542886257 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(15/495*10)=-1.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ANK2 [Title/Abstract] AND ANK2 [Title/Abstract] AND fusion [Title/Abstract] Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes (pmid: 17242276)
Most frequent breakpoint	ANK2(114274810)-ANK2(114275372), # samples:2 ANK2(114273906)-ANK2(114276867), # 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

Fusion gene breakpoints across ANK2 (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 ANK2 (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
ChiTaRS5.0	N/A	AA782337	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
ChiTaRS5.0	N/A	AI470543	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
ChiTaRS5.0	N/A	AI758236	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
ChiTaRS5.0	N/A	CD656555	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
ChiTaRS5.0	N/A	DL056952	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-

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Fusion Gene ORF analysis for ANK2-ANK2

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-intron	ENST00000264366	ENST00000264366	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000264366	ENST00000357077	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000264366	ENST00000394537	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000264366	ENST00000504887	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000264366	ENST00000506722	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000264366	ENST00000509550	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000264366	ENST00000510275	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000357077	ENST00000264366	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000357077	ENST00000357077	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000357077	ENST00000394537	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000357077	ENST00000504887	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000357077	ENST00000506722	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000357077	ENST00000509550	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
5CDS-intron	ENST00000357077	ENST00000510275	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000264366	ENST00000264366	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000264366	ENST00000264366	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000264366	ENST00000357077	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000264366	ENST00000357077	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000264366	ENST00000394537	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000264366	ENST00000394537	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000264366	ENST00000504887	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000264366	ENST00000504887	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000264366	ENST00000506722	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000264366	ENST00000506722	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000264366	ENST00000509550	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000264366	ENST00000509550	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000264366	ENST00000510275	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000264366	ENST00000510275	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000357077	ENST00000264366	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000357077	ENST00000264366	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000357077	ENST00000357077	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000357077	ENST00000357077	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000357077	ENST00000394537	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000357077	ENST00000394537	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000357077	ENST00000504887	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000357077	ENST00000504887	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000357077	ENST00000506722	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000357077	ENST00000506722	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000357077	ENST00000509550	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000357077	ENST00000509550	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000357077	ENST00000510275	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000357077	ENST00000510275	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000394537	ENST00000264366	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000394537	ENST00000264366	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000394537	ENST00000264366	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000394537	ENST00000357077	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000394537	ENST00000357077	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000394537	ENST00000357077	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000394537	ENST00000394537	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000394537	ENST00000394537	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000394537	ENST00000394537	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000394537	ENST00000504887	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000394537	ENST00000504887	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000394537	ENST00000504887	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000394537	ENST00000506722	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000394537	ENST00000506722	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000394537	ENST00000506722	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000394537	ENST00000509550	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000394537	ENST00000509550	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000394537	ENST00000509550	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000394537	ENST00000510275	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000394537	ENST00000510275	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000394537	ENST00000510275	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000504887	ENST00000264366	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000504887	ENST00000264366	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000504887	ENST00000264366	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000504887	ENST00000357077	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000504887	ENST00000357077	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000504887	ENST00000357077	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000504887	ENST00000394537	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000504887	ENST00000394537	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000504887	ENST00000394537	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000504887	ENST00000504887	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000504887	ENST00000504887	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000504887	ENST00000504887	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000504887	ENST00000506722	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000504887	ENST00000506722	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000504887	ENST00000506722	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000504887	ENST00000509550	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000504887	ENST00000509550	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000504887	ENST00000509550	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000504887	ENST00000510275	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000504887	ENST00000510275	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000504887	ENST00000510275	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000506722	ENST00000264366	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000506722	ENST00000264366	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000506722	ENST00000264366	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000506722	ENST00000357077	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000506722	ENST00000357077	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000506722	ENST00000357077	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000506722	ENST00000394537	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000506722	ENST00000394537	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000506722	ENST00000394537	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000506722	ENST00000504887	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000506722	ENST00000504887	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000506722	ENST00000504887	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000506722	ENST00000506722	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000506722	ENST00000506722	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000506722	ENST00000506722	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000506722	ENST00000509550	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000506722	ENST00000509550	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000506722	ENST00000509550	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000506722	ENST00000510275	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000506722	ENST00000510275	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000506722	ENST00000510275	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000509550	ENST00000264366	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000509550	ENST00000264366	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000509550	ENST00000264366	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000509550	ENST00000357077	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000509550	ENST00000357077	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000509550	ENST00000357077	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000509550	ENST00000394537	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000509550	ENST00000394537	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000509550	ENST00000394537	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000509550	ENST00000504887	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000509550	ENST00000504887	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000509550	ENST00000504887	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000509550	ENST00000506722	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000509550	ENST00000506722	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000509550	ENST00000506722	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000509550	ENST00000509550	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000509550	ENST00000509550	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000509550	ENST00000509550	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000509550	ENST00000510275	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000509550	ENST00000510275	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000509550	ENST00000510275	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000510275	ENST00000264366	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000510275	ENST00000264366	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000510275	ENST00000264366	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000510275	ENST00000357077	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000510275	ENST00000357077	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000510275	ENST00000357077	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000510275	ENST00000394537	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000510275	ENST00000394537	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000510275	ENST00000394537	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000510275	ENST00000504887	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000510275	ENST00000504887	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000510275	ENST00000504887	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000510275	ENST00000506722	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000510275	ENST00000506722	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000510275	ENST00000506722	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000510275	ENST00000509550	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000510275	ENST00000509550	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000510275	ENST00000509550	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+
intron-intron	ENST00000510275	ENST00000510275	ANK2	chr4	114273906	+	ANK2	chr4	114276867	-
intron-intron	ENST00000510275	ENST00000510275	ANK2	chr4	114274810	-	ANK2	chr4	114275372	-
intron-intron	ENST00000510275	ENST00000510275	ANK2	chr4	114040559	+	ANK2	chr4	114019039	+

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

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Fusion Genomic Features for ANK2-ANK2

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)

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.

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Fusion Protein Features for ANK2-ANK2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:114274810/:114275372)
- 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
ANK2 Q01484	ANK2 Q01484
FUNCTION: Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity). {ECO:0000250\|UniProtKB:Q8C8R3, ECO:0000269\|PubMed:12571597}.	FUNCTION: Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity). {ECO:0000250\|UniProtKB:Q8C8R3, ECO:0000269\|PubMed:12571597}.

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

- 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

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Fusion Gene Sequence for ANK2-ANK2

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.

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Fusion Gene PPI Analysis for ANK2-ANK2

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

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Related Drugs for ANK2-ANK2

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

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Related Diseases for ANK2-ANK2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source