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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:ACVR1-NFATC1 (FusionGDB2 ID:1902)

Fusion Gene Summary for ACVR1-NFATC1

Fusion gene summary

Fusion gene information	Fusion gene name: ACVR1-NFATC1
	Fusion gene ID: 1902
		Hgene	Tgene
	Gene symbol	ACVR1	NFATC1
	Gene ID	90	4772
	Gene name	activin A receptor type 1	nuclear factor of activated T cells 1
	Synonyms	ACTRI\|ACVR1A\|ACVRLK2\|ALK2\|FOP\|SKR1\|TSRI	NF-ATC\|NF-ATc1.2\|NFAT2\|NFATc
	Cytomap	2q24.1	18q23
	Type of gene	protein-coding	protein-coding
	Description	activin receptor type-1TGF-B superfamily receptor type Iactivin A receptor, type Iactivin A receptor, type II-like kinase 2activin receptor type Iactivin receptor-like kinase 2hydroxyalkyl-protein kinaseserine/threonine-protein kinase receptor R1	nuclear factor of activated T-cells, cytoplasmic 1NFAT transcription complex cytosolic componentnuclear factor of activated T-cells 'c'nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
	Modification date	20200320	20200313
	UniProtAcc	Q04771	O95644
	Ensembl transtripts involved in fusion gene	ENST00000263640, ENST00000410057, ENST00000434821, ENST00000409283, ENST00000487456,	ENST00000253506, ENST00000318065, ENST00000329101, ENST00000397790, ENST00000427363, ENST00000542384, ENST00000545796, ENST00000586434, ENST00000587635, ENST00000590172, ENST00000591814, ENST00000592223,
Fusion gene scores	* DoF score	4 X 5 X 4=80	9 X 9 X 7=567
	# samples	7	11
	** MAII score	log2(7/80*10)=-0.192645077942396 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/567*10)=-2.36584521141757 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ACVR1 [Title/Abstract] AND NFATC1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ACVR1(158674897)-NFATC1(77246248), # samples:4
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	ACVR1	GO:0006468	protein phosphorylation	12065756\|19506109
Hgene	ACVR1	GO:0007179	transforming growth factor beta receptor signaling pathway	8242742
Hgene	ACVR1	GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	19506109
Hgene	ACVR1	GO:0018107	peptidyl-threonine phosphorylation	19736306
Hgene	ACVR1	GO:0030509	BMP signaling pathway	18436533
Hgene	ACVR1	GO:0032924	activin receptor signaling pathway	19506109
Hgene	ACVR1	GO:0045893	positive regulation of transcription, DNA-templated	8242742
Hgene	ACVR1	GO:0045944	positive regulation of transcription by RNA polymerase II	19506109
Hgene	ACVR1	GO:0060389	pathway-restricted SMAD protein phosphorylation	19736306
Hgene	ACVR1	GO:2000017	positive regulation of determination of dorsal identity	19506109
Tgene	NFATC1	GO:0033173	calcineurin-NFAT signaling cascade	14979875
Tgene	NFATC1	GO:0035556	intracellular signal transduction	14749367
Tgene	NFATC1	GO:0045893	positive regulation of transcription, DNA-templated	14749367\|14979875
Tgene	NFATC1	GO:0045944	positive regulation of transcription by RNA polymerase II	14979875
Tgene	NFATC1	GO:1905064	negative regulation of vascular smooth muscle cell differentiation	23853098

Fusion gene breakpoints across ACVR1 (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 NFATC1 (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	OV	TCGA-24-2281-01A	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
ChimerDB4	OV	TCGA-24-2281	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
ChimerDB4	OV	TCGA-31-1946-01A	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+

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Fusion Gene ORF analysis for ACVR1-NFATC1

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
5UTR-3CDS	ENST00000263640	ENST00000253506	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-3CDS	ENST00000263640	ENST00000253506	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-3CDS	ENST00000410057	ENST00000253506	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-3CDS	ENST00000410057	ENST00000253506	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-3CDS	ENST00000434821	ENST00000253506	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-3CDS	ENST00000434821	ENST00000253506	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000318065	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000318065	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000329101	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000329101	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000397790	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000397790	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000427363	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000427363	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000542384	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000542384	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000545796	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000545796	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000586434	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000586434	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000587635	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000587635	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000590172	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000590172	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000591814	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000591814	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000263640	ENST00000592223	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000263640	ENST00000592223	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000318065	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000318065	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000329101	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000329101	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000397790	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000397790	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000427363	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000427363	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000542384	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000542384	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000545796	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000545796	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000586434	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000586434	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000587635	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000587635	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000590172	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000590172	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000591814	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000591814	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000410057	ENST00000592223	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000410057	ENST00000592223	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000318065	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000318065	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000329101	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000329101	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000397790	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000397790	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000427363	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000427363	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000542384	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000542384	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000545796	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000545796	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000586434	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000586434	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000587635	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000587635	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000590172	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000590172	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000591814	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000591814	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
5UTR-intron	ENST00000434821	ENST00000592223	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
5UTR-intron	ENST00000434821	ENST00000592223	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-3CDS	ENST00000409283	ENST00000253506	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-3CDS	ENST00000409283	ENST00000253506	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-3CDS	ENST00000487456	ENST00000253506	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-3CDS	ENST00000487456	ENST00000253506	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000318065	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000318065	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000329101	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000329101	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000397790	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000397790	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000427363	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000427363	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000542384	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000542384	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000545796	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000545796	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000586434	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000586434	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000587635	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000587635	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000590172	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000590172	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000591814	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000591814	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000409283	ENST00000592223	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000409283	ENST00000592223	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000318065	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000318065	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000329101	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000329101	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000397790	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000397790	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000427363	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000427363	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000542384	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000542384	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000545796	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000545796	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000586434	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000586434	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000587635	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000587635	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000590172	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000590172	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000591814	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000591814	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+
intron-intron	ENST00000487456	ENST00000592223	ACVR1	chr2	158674897	-	NFATC1	chr18	77246248	+
intron-intron	ENST00000487456	ENST00000592223	ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+

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 ACVR1-NFATC1

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)
ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+	0.000389107	0.99961096
ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+	0.000389107	0.99961096
ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+	0.000389107	0.99961096
ACVR1	chr2	158674896	-	NFATC1	chr18	77246247	+	0.000389107	0.99961096

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 ACVR1-NFATC1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:158674897/:77246248)
- 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
ACVR1 Q04771	NFATC1 O95644
FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity). {ECO:0000250}.	FUNCTION: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity). {ECO:0000250\|UniProtKB:O88942, ECO:0000269\|PubMed:10358178}.

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 ACVR1-NFATC1

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 ACVR1-NFATC1

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 ACVR1-NFATC1

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 ACVR1-NFATC1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source