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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:ACVR1B-PCBP2 (FusionGDB2 ID:1892)

Fusion Gene Summary for ACVR1B-PCBP2

Fusion gene summary

Fusion gene information	Fusion gene name: ACVR1B-PCBP2
	Fusion gene ID: 1892
		Hgene	Tgene
	Gene symbol	ACVR1B	PCBP2
	Gene ID	91	5094
	Gene name	activin A receptor type 1B	poly(rC) binding protein 2
	Synonyms	ACTRIB\|ACVRLK4\|ALK4\|SKR2	HNRNPE2\|HNRPE2\|hnRNP-E2
	Cytomap	12q13.13	12q13.13
	Type of gene	protein-coding	protein-coding
	Description	activin receptor type-1Bactivin A receptor, type IBactivin A receptor, type II-like kinase 4activin receptor-like kinase 4serine/threonine-protein kinase receptor R2	poly(rC)-binding protein 2alpha-CP2epididymis secretory sperm binding proteinheterogeneous nuclear ribonucleoprotein E2heterogenous nuclear ribonucleoprotein E2hnRNP E2
	Modification date	20200313	20200313
	UniProtAcc	P36896	.
	Ensembl transtripts involved in fusion gene	ENST00000257963, ENST00000415850, ENST00000426655, ENST00000541224, ENST00000542485, ENST00000563121,	ENST00000359282, ENST00000359462, ENST00000437231, ENST00000439930, ENST00000447282, ENST00000455667, ENST00000541275, ENST00000546463, ENST00000548933, ENST00000549863, ENST00000552296, ENST00000552819, ENST00000603815,
Fusion gene scores	* DoF score	6 X 5 X 4=120	27 X 26 X 9=6318
	# samples	7	30
	** MAII score	log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(30/6318*10)=-4.39643353125099 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ACVR1B [Title/Abstract] AND PCBP2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ACVR1B(52345618)-PCBP2(53849669), # samples:2
Anticipated loss of major functional domain due to fusion event.	ACVR1B-PCBP2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. ACVR1B-PCBP2 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. ACVR1B-PCBP2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.

* 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	ACVR1B	GO:0000082	G1/S transition of mitotic cell cycle	11117535
Hgene	ACVR1B	GO:0006355	regulation of transcription, DNA-templated	8622651\|12665502
Hgene	ACVR1B	GO:0006468	protein phosphorylation	12065756
Hgene	ACVR1B	GO:0007165	signal transduction	8622651\|12665502
Hgene	ACVR1B	GO:0018107	peptidyl-threonine phosphorylation	18039968
Hgene	ACVR1B	GO:0030308	negative regulation of cell growth	11117535
Hgene	ACVR1B	GO:0032924	activin receptor signaling pathway	9892009
Hgene	ACVR1B	GO:0032927	positive regulation of activin receptor signaling pathway	16720724
Hgene	ACVR1B	GO:0045648	positive regulation of erythrocyte differentiation	9032295
Hgene	ACVR1B	GO:0046777	protein autophosphorylation	18039968
Hgene	ACVR1B	GO:1901165	positive regulation of trophoblast cell migration	21356369
Tgene	PCBP2	GO:0039694	viral RNA genome replication	12414943
Tgene	PCBP2	GO:0075522	IRES-dependent viral translational initiation	12414943

Fusion gene breakpoints across ACVR1B (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 PCBP2 (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-B6-A0WX-01A	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
ChimerDB4	BRCA	TCGA-B6-A0WX-01A	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+

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Fusion Gene ORF analysis for ACVR1B-PCBP2

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
Frame-shift	ENST00000257963	ENST00000359282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000359462	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000437231	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000439930	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000447282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000455667	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000541275	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000546463	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000548933	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000549863	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000552296	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000552819	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000257963	ENST00000603815	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000359282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000359462	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000437231	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000439930	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000447282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000455667	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000541275	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000546463	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000548933	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000549863	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000552296	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000552819	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000415850	ENST00000603815	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000359282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000359462	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000437231	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000439930	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000447282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000455667	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000541275	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000546463	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000548933	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000549863	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000552296	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000552819	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000426655	ENST00000603815	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000359282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000359462	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000437231	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000439930	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000447282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000455667	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000541275	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000546463	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000548933	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000549863	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000552296	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000552819	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
Frame-shift	ENST00000541224	ENST00000603815	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000359282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000359462	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000437231	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000439930	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000447282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000455667	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000541275	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000546463	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000548933	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000549863	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000552296	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000552819	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000257963	ENST00000603815	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000359282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000359462	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000437231	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000439930	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000447282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000455667	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000541275	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000546463	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000548933	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000549863	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000552296	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000552819	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000415850	ENST00000603815	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000359282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000359462	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000437231	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000439930	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000447282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000455667	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000541275	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000546463	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000548933	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000549863	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000552296	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000552819	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000426655	ENST00000603815	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000359282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000359462	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000437231	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000439930	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000447282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000455667	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000541275	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000546463	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000548933	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000549863	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000552296	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000552819	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000541224	ENST00000603815	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000359282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000359282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000359462	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000359462	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000437231	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000437231	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000439930	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000439930	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000447282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000447282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000455667	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000455667	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000541275	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000541275	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000546463	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000546463	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000548933	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000548933	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000549863	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000549863	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000552296	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000552296	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000552819	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000552819	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000603815	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000542485	ENST00000603815	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000359282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000359282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000359462	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000359462	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000437231	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000437231	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000439930	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000439930	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000447282	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000447282	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000455667	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000455667	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000541275	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000541275	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000546463	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000546463	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000548933	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000548933	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000549863	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000549863	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000552296	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000552296	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000552819	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000552819	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000603815	ACVR1B	chr12	52345618	+	PCBP2	chr12	53849669	+
intron-3CDS	ENST00000563121	ENST00000603815	ACVR1B	chr12	52346555	+	PCBP2	chr12	53849669	+

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 ACVR1B-PCBP2

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)
ACVR1B	chr12	52345618	+	PCBP2	chr12	53849668	+	4.16E-10	1
ACVR1B	chr12	52345618	+	PCBP2	chr12	53849668	+	4.16E-10	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.

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Fusion Protein Features for ACVR1B-PCBP2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:52345618/:53849669)
- 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
ACVR1B P36896	.
FUNCTION: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2. {ECO:0000269\|PubMed:12364468, ECO:0000269\|PubMed:12639945, ECO:0000269\|PubMed:18039968, ECO:0000269\|PubMed:20226172, ECO:0000269\|PubMed:8196624, ECO:0000269\|PubMed:9032295, ECO:0000269\|PubMed:9892009}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 ACVR1B-PCBP2

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 ACVR1B-PCBP2

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 ACVR1B-PCBP2

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 ACVR1B-PCBP2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source