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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:ACVR2A-CPQ (FusionGDB2 ID:1906)

Fusion Gene Summary for ACVR2A-CPQ

Fusion gene summary

Fusion gene information	Fusion gene name: ACVR2A-CPQ
	Fusion gene ID: 1906
		Hgene	Tgene
	Gene symbol	ACVR2A	CPQ
	Gene ID	92	10404
	Gene name	activin A receptor type 2A	carboxypeptidase Q
	Synonyms	ACTRII\|ACVR2	LDP\|PGCP
	Cytomap	2q22.3-q23.1	8q22.1
	Type of gene	protein-coding	protein-coding
	Description	activin receptor type-2Aactivin A receptor, type IIA	carboxypeptidase QSer-Met dipeptidaseaminopeptidaseblood plasma glutamate carboxypeptidaselysosomal dipeptidase
	Modification date	20200313	20200313
	UniProtAcc	P27037	Q9Y646
	Ensembl transtripts involved in fusion gene	ENST00000241416, ENST00000404590, ENST00000495775, ENST00000535787,	ENST00000529551, ENST00000220763,
Fusion gene scores	* DoF score	8 X 7 X 7=392	16 X 14 X 11=2464
	# samples	10	19
	** MAII score	log2(10/392*10)=-1.97085365434048 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(19/2464*10)=-3.69693093236395 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ACVR2A [Title/Abstract] AND CPQ [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ACVR2A(148602776)-CPQ(97847201), # samples:1
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	ACVR2A	GO:0030509	BMP signaling pathway	18436533
Hgene	ACVR2A	GO:0032927	positive regulation of activin receptor signaling pathway	12665502
Hgene	ACVR2A	GO:0045648	positive regulation of erythrocyte differentiation	9032295
Tgene	CPQ	GO:0006508	proteolysis	10206990
Tgene	CPQ	GO:0043171	peptide catabolic process	10206990

Fusion gene breakpoints across ACVR2A (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 CPQ (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	SARC	TCGA-DX-A6BF-01A	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+

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Fusion Gene ORF analysis for ACVR2A-CPQ

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	ENST00000241416	ENST00000529551	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+
5CDS-intron	ENST00000404590	ENST00000529551	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+
In-frame	ENST00000241416	ENST00000220763	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+
In-frame	ENST00000404590	ENST00000220763	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+
intron-3CDS	ENST00000495775	ENST00000220763	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+
intron-3CDS	ENST00000535787	ENST00000220763	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+
intron-intron	ENST00000495775	ENST00000529551	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+
intron-intron	ENST00000535787	ENST00000529551	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+

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)

ENST00000241416

ACVR2A

chr2

148602776

ENST00000220763

CPQ

chr8

97847201

1995

691

636

1676

346

ENST00000404590

ACVR2A

chr2

148602776

ENST00000220763

CPQ

chr8

97847201

1529

225

170

1210

346

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
ENST00000241416	ENST00000220763	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+	0.000805365	0.9991947
ENST00000404590	ENST00000220763	ACVR2A	chr2	148602776	+	CPQ	chr8	97847201	+	0.000758469	0.9992416

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Fusion Genomic Features for ACVR2A-CPQ

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)
ACVR2A	chr2	148602776	+	CPQ	chr8	97847200	+	0.002384064	0.99761593
ACVR2A	chr2	148602776	+	CPQ	chr8	97847200	+	0.002384064	0.99761593

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 ACVR2A-CPQ

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:148602776/chr8:97847201)
- 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
ACVR2A P27037	CPQ Q9Y646
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 A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6 (By similarity). {ECO:0000250\|UniProtKB:P27038, ECO:0000269\|PubMed:1314589}.	FUNCTION: Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thyroglobulin (Tg) precursor.

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

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000241416

192_485

514.0

Domain

Protein kinase

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000404590

192_485

514.0

Domain

Protein kinase

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000241416

198_206

514.0

Nucleotide binding

ATP

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000404590

198_206

514.0

Nucleotide binding

ATP

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000241416

162_513

514.0

Topological domain

Cytoplasmic

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000241416

20_135

514.0

Topological domain

Extracellular

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000404590

162_513

514.0

Topological domain

Cytoplasmic

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000404590

20_135

514.0

Topological domain

Extracellular

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000241416

136_161

514.0

Transmembrane

Helical

Hgene

ACVR2A

chr2:148602776

chr8:97847201

ENST00000404590

136_161

514.0

Transmembrane

Helical

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Fusion Gene Sequence for ACVR2A-CPQ

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.

>1906_1906_1_ACVR2A-CPQ_ACVR2A_chr2_148602776_ENST00000241416_CPQ_chr8_97847201_ENST00000220763_length(transcript)=1995nt_BP=691nt
AGGAGACCGAAAACGCGGCCGAGCCCGGAGCCCGGAGCTGGAGCCAGAGCCTGGACCAGAACTTGGCCGCCGCCTGCACCGCCGCCGCCG
CTGCCGCCCGCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTC
TGGGTTGAAGGTCGGTCCGGACATCGGACCCAGTCAGTTCCCAGACTGTCCGGGCGGCAGCGGACGCCGCTGCCGCCGCCGCCTCTTCGT
CGCCTCAGCCTGGCGTTTTGTTCCGAGAGACGGGAGAGGCGAGCGGAGCTGACAGTGATTTTGACAGTGATTTAAACCCGCTTTTGTTGT
TGTTGGCTTTTCGTTGTTTGGTTTTGTGTGTTGTGCGTGTGTGTGGCGGTTTTTCCCCCGTGGTGCATTTTATTTTTTATCGTTGTGCTC
TTTTTTTTCTTTTTTTTTTTTAACCCAGTGAGCGTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTCTGGGCTTCCGAATATGTTTTATGAC
GGTTGATTTTACACCAGGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTC
GGGAAAATGGGAGCTGCTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGCATTACAGCAGAAGTTCTGGTGGTGACC
TCTTTCGATGAACTGCAGAGAAGGGCCTCAGAAGCAAGAGGGAAGATTGTTGTTTATAACCAACCTTACATCAACTACTCAAGGACGGTG
CAATACCGAACGCAGGGGGCGGTGGAAGCTGCCAAGGTGGGGGCTTTGGCATCTCTCATTCGATCCGTGGCCTCCTTCTCCATCTACAGT
CCTCACACAGGTATTCAGGAATACCAGGATGGCGTGCCCAAGATTCCAACAGCCTGTATTACGGTGGAAGATGCAGAAATGATGTCAAGA
ATGGCTTCTCATGGGATCAAAATTGTCATTCAGCTAAAGATGGGGGCAAAGACCTACCCAGATACTGATTCCTTCAACACTGTAGCAGAG
ATCACTGGGAGCAAATATCCAGAACAGGTTGTACTGGTCAGTGGACATCTGGACAGCTGGGATGTTGGGCAGGGTGCCATGGATGATGGC
GGTGGAGCCTTTATATCATGGGAAGCACTCTCACTTATTAAAGATCTTGGGCTGCGTCCAAAGAGGACTCTGCGGCTGGTGCTCTGGACT
GCAGAAGAACAAGGTGGAGTTGGTGCCTTCCAGTATTATCAGTTACACAAGGTAAATATTTCCAACTACAGTCTGGTGATGGAGTCTGAC
GCAGGAACCTTCTTACCCACTGGGCTGCAATTCACTGGCAGTGAAAAGGCCAGGGCCATCATGGAGGAGGTTATGAGCCTGCTGCAGCCC
CTCAATATCACTCAGGTCCTGAGCCATGGAGAAGGGACAGACATCAACTTTTGGATCCAAGCTGGAGTGCCTGGAGCCAGTCTACTTGAT
GACTTATACAAGTATTTCTTCTTCCATCACTCCCACGGAGACACCATGACTGTCATGGATCCAAAGCAGATGAATGTTGCTGCTGCTGTT
TGGGCTGTTGTTTCTTATGTTGTTGCAGACATGGAAGAAATGCTGCCTAGGTCCTAGAAACAGTAAGAAAGAAACGTTTTCATGCTTCTG
GCCAGGAATCCTGGGTCTGCAACTTTGGAAAACTCCTCTTCACATAACAATTTCATCCAATTCATCTTCAAAGCACAACTCTATTTCATG
CTTTCTGTTATTATCTTTCTTGATACTTTCCAAATTCTCTGATTCTAGAAAAAGGAATCATTCTCCCCTCCCTCCCACCACATAGAATCA
ACATATGGTAGGGATTACAGTGGGGGCATTTCTTTATATCACCTCTTAAAAACATTGTTTCCACTTTAAAAGTAAACACTTAATAAATTT

>1906_1906_1_ACVR2A-CPQ_ACVR2A_chr2_148602776_ENST00000241416_CPQ_chr8_97847201_ENST00000220763_length(amino acids)=346AA_BP=18
MGAAAKLAFAVFLISCSSGITAEVLVVTSFDELQRRASEARGKIVVYNQPYINYSRTVQYRTQGAVEAAKVGALASLIRSVASFSIYSPH
TGIQEYQDGVPKIPTACITVEDAEMMSRMASHGIKIVIQLKMGAKTYPDTDSFNTVAEITGSKYPEQVVLVSGHLDSWDVGQGAMDDGGG
AFISWEALSLIKDLGLRPKRTLRLVLWTAEEQGGVGAFQYYQLHKVNISNYSLVMESDAGTFLPTGLQFTGSEKARAIMEEVMSLLQPLN

--------------------------------------------------------------
>1906_1906_2_ACVR2A-CPQ_ACVR2A_chr2_148602776_ENST00000404590_CPQ_chr8_97847201_ENST00000220763_length(transcript)=1529nt_BP=225nt
GCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTCTGGGTTGAA
GGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTCGGGAAAATGGGAGCTG
CTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGCATTACAGCAGAAGTTCTGGTGGTGACCTCTTTCGATGAACTGC
AGAGAAGGGCCTCAGAAGCAAGAGGGAAGATTGTTGTTTATAACCAACCTTACATCAACTACTCAAGGACGGTGCAATACCGAACGCAGG
GGGCGGTGGAAGCTGCCAAGGTGGGGGCTTTGGCATCTCTCATTCGATCCGTGGCCTCCTTCTCCATCTACAGTCCTCACACAGGTATTC
AGGAATACCAGGATGGCGTGCCCAAGATTCCAACAGCCTGTATTACGGTGGAAGATGCAGAAATGATGTCAAGAATGGCTTCTCATGGGA
TCAAAATTGTCATTCAGCTAAAGATGGGGGCAAAGACCTACCCAGATACTGATTCCTTCAACACTGTAGCAGAGATCACTGGGAGCAAAT
ATCCAGAACAGGTTGTACTGGTCAGTGGACATCTGGACAGCTGGGATGTTGGGCAGGGTGCCATGGATGATGGCGGTGGAGCCTTTATAT
CATGGGAAGCACTCTCACTTATTAAAGATCTTGGGCTGCGTCCAAAGAGGACTCTGCGGCTGGTGCTCTGGACTGCAGAAGAACAAGGTG
GAGTTGGTGCCTTCCAGTATTATCAGTTACACAAGGTAAATATTTCCAACTACAGTCTGGTGATGGAGTCTGACGCAGGAACCTTCTTAC
CCACTGGGCTGCAATTCACTGGCAGTGAAAAGGCCAGGGCCATCATGGAGGAGGTTATGAGCCTGCTGCAGCCCCTCAATATCACTCAGG
TCCTGAGCCATGGAGAAGGGACAGACATCAACTTTTGGATCCAAGCTGGAGTGCCTGGAGCCAGTCTACTTGATGACTTATACAAGTATT
TCTTCTTCCATCACTCCCACGGAGACACCATGACTGTCATGGATCCAAAGCAGATGAATGTTGCTGCTGCTGTTTGGGCTGTTGTTTCTT
ATGTTGTTGCAGACATGGAAGAAATGCTGCCTAGGTCCTAGAAACAGTAAGAAAGAAACGTTTTCATGCTTCTGGCCAGGAATCCTGGGT
CTGCAACTTTGGAAAACTCCTCTTCACATAACAATTTCATCCAATTCATCTTCAAAGCACAACTCTATTTCATGCTTTCTGTTATTATCT
TTCTTGATACTTTCCAAATTCTCTGATTCTAGAAAAAGGAATCATTCTCCCCTCCCTCCCACCACATAGAATCAACATATGGTAGGGATT

>1906_1906_2_ACVR2A-CPQ_ACVR2A_chr2_148602776_ENST00000404590_CPQ_chr8_97847201_ENST00000220763_length(amino acids)=346AA_BP=18
MGAAAKLAFAVFLISCSSGITAEVLVVTSFDELQRRASEARGKIVVYNQPYINYSRTVQYRTQGAVEAAKVGALASLIRSVASFSIYSPH
TGIQEYQDGVPKIPTACITVEDAEMMSRMASHGIKIVIQLKMGAKTYPDTDSFNTVAEITGSKYPEQVVLVSGHLDSWDVGQGAMDDGGG
AFISWEALSLIKDLGLRPKRTLRLVLWTAEEQGGVGAFQYYQLHKVNISNYSLVMESDAGTFLPTGLQFTGSEKARAIMEEVMSLLQPLN

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ACVR2A-CPQ

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 ACVR2A-CPQ

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 ACVR2A-CPQ

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source