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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ACVR1-NFATC1 (FusionGDB2 ID:HG90TG4772)

Fusion Gene Summary for ACVR1-NFATC1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACVR1-NFATC1
Fusion gene ID: hg90tg4772
HgeneTgene
Gene symbol

ACVR1

NFATC1

Gene ID

90

4772

Gene nameactivin A receptor type 1nuclear factor of activated T cells 1
SynonymsACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRINF-ATC|NF-ATc1.2|NFAT2|NFATc
Cytomap('ACVR1')('NFATC1')

2q24.1

18q23

Type of geneprotein-codingprotein-coding
Descriptionactivin 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 R1nuclear 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 date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000263640, ENST00000410057, 
ENST00000434821, ENST00000409283, 
ENST00000487456, 
Fusion gene scores* DoF score4 X 5 X 4=809 X 9 X 7=567
# samples 711
** MAII scorelog2(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 breakpointACVR1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneACVR1

GO:0006468

protein phosphorylation

12065756|19506109

HgeneACVR1

GO:0007179

transforming growth factor beta receptor signaling pathway

8242742

HgeneACVR1

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

19506109

HgeneACVR1

GO:0018107

peptidyl-threonine phosphorylation

19736306

HgeneACVR1

GO:0030509

BMP signaling pathway

18436533

HgeneACVR1

GO:0032924

activin receptor signaling pathway

19506109

HgeneACVR1

GO:0045893

positive regulation of transcription, DNA-templated

8242742

HgeneACVR1

GO:0045944

positive regulation of transcription by RNA polymerase II

19506109

HgeneACVR1

GO:0060389

pathway-restricted SMAD protein phosphorylation

19736306

HgeneACVR1

GO:2000017

positive regulation of determination of dorsal identity

19506109

TgeneNFATC1

GO:0033173

calcineurin-NFAT signaling cascade

14979875

TgeneNFATC1

GO:0035556

intracellular signal transduction

14749367

TgeneNFATC1

GO:0045893

positive regulation of transcription, DNA-templated

14749367|14979875

TgeneNFATC1

GO:0045944

positive regulation of transcription by RNA polymerase II

14979875

TgeneNFATC1

GO:1905064

negative regulation of vascular smooth muscle cell differentiation

23853098



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-24-2281-01AACVR1chr2

158674897

-NFATC1chr18

77246248

+
ChimerDB4OVTCGA-24-2281ACVR1chr2

158674896

-NFATC1chr18

77246247

+
ChimerDB4OVTCGA-31-1946-01AACVR1chr2

158674897

-NFATC1chr18

77246248

+


Top

Fusion Gene ORF analysis for ACVR1-NFATC1

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000263640ENST00000253506ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-3CDSENST00000263640ENST00000253506ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-3CDSENST00000410057ENST00000253506ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-3CDSENST00000410057ENST00000253506ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-3CDSENST00000434821ENST00000253506ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-3CDSENST00000434821ENST00000253506ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000318065ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000318065ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000329101ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000329101ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000397790ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000397790ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000427363ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000427363ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000542384ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000542384ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000545796ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000545796ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000586434ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000586434ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000587635ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000587635ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000590172ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000590172ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000591814ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000591814ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000263640ENST00000592223ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000263640ENST00000592223ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000318065ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000318065ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000329101ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000329101ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000397790ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000397790ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000427363ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000427363ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000542384ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000542384ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000545796ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000545796ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000586434ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000586434ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000587635ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000587635ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000590172ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000590172ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000591814ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000591814ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000410057ENST00000592223ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000410057ENST00000592223ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000318065ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000318065ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000329101ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000329101ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000397790ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000397790ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000427363ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000427363ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000542384ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000542384ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000545796ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000545796ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000586434ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000586434ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000587635ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000587635ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000590172ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000590172ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000591814ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000591814ACVR1chr2

158674896

-NFATC1chr18

77246247

+
5UTR-intronENST00000434821ENST00000592223ACVR1chr2

158674897

-NFATC1chr18

77246248

+
5UTR-intronENST00000434821ENST00000592223ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-3CDSENST00000409283ENST00000253506ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-3CDSENST00000409283ENST00000253506ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-3CDSENST00000487456ENST00000253506ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-3CDSENST00000487456ENST00000253506ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000318065ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000318065ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000329101ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000329101ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000397790ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000397790ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000427363ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000427363ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000542384ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000542384ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000545796ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000545796ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000586434ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000586434ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000587635ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000587635ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000590172ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000590172ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000591814ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000591814ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000409283ENST00000592223ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000409283ENST00000592223ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000318065ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000318065ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000329101ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000329101ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000397790ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000397790ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000427363ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000427363ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000542384ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000542384ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000545796ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000545796ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000586434ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000586434ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000587635ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000587635ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000590172ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000590172ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000591814ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000591814ACVR1chr2

158674896

-NFATC1chr18

77246247

+
intron-intronENST00000487456ENST00000592223ACVR1chr2

158674897

-NFATC1chr18

77246248

+
intron-intronENST00000487456ENST00000592223ACVR1chr2

158674896

-NFATC1chr18

77246247

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for ACVR1-NFATC1


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ACVR1chr2158674896-NFATC1chr1877246247+0.0003891070.99961096
ACVR1chr2158674896-NFATC1chr1877246247+0.0003891070.99961096
ACVR1chr2158674896-NFATC1chr1877246247+0.0003891070.99961096
ACVR1chr2158674896-NFATC1chr1877246247+0.0003891070.99961096


check buttonDistribution 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.
genomic feature of top 1%

Top

Fusion Protein Features for ACVR1-NFATC1


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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}.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}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ACVR1-NFATC1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ACVR1-NFATC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ACVR1-NFATC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACVR1C0016037Fibrodysplasia Ossificans Progressiva5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACVR1C0017638Glioma3CGI;CTD_human
HgeneACVR1C0259783mixed gliomas3CTD_human
HgeneACVR1C0555198Malignant Glioma3CTD_human
HgeneACVR1C0004114Astrocytoma1CTD_human
HgeneACVR1C0006142Malignant neoplasm of breast1CTD_human
HgeneACVR1C0085576Iron-Refractory Iron Deficiency Anemia1GENOMICS_ENGLAND
HgeneACVR1C0205768Subependymal Giant Cell Astrocytoma1CTD_human
HgeneACVR1C0242488Acute Lung Injury1CTD_human
HgeneACVR1C0280783Juvenile Pilocytic Astrocytoma1CTD_human
HgeneACVR1C0280785Diffuse Astrocytoma1CTD_human
HgeneACVR1C0334579Anaplastic astrocytoma1CTD_human
HgeneACVR1C0334580Protoplasmic astrocytoma1CTD_human
HgeneACVR1C0334581Gemistocytic astrocytoma1CTD_human
HgeneACVR1C0334582Fibrillary Astrocytoma1CTD_human
HgeneACVR1C0334583Pilocytic Astrocytoma1CTD_human
HgeneACVR1C0338070Childhood Cerebral Astrocytoma1CTD_human
HgeneACVR1C0547065Mixed oligoastrocytoma1CTD_human
HgeneACVR1C0678222Breast Carcinoma1CTD_human
HgeneACVR1C0750935Cerebral Astrocytoma1CTD_human
HgeneACVR1C0750936Intracranial Astrocytoma1CTD_human
HgeneACVR1C1257931Mammary Neoplasms, Human1CTD_human
HgeneACVR1C1458155Mammary Neoplasms1CTD_human
HgeneACVR1C1704230Grade I Astrocytoma1CTD_human
HgeneACVR1C4704874Mammary Carcinoma, Human1CTD_human