Home

Download

Statistics

Examples

Help

Contact

	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:NFATC1-EWSR1 (FusionGDB2 ID:58784)

Fusion Gene Summary for NFATC1-EWSR1

Fusion gene summary

Fusion gene information	Fusion gene name: NFATC1-EWSR1
	Fusion gene ID: 58784
		Hgene	Tgene
	Gene symbol	NFATC1	EWSR1
	Gene ID	4772	2130
	Gene name	nuclear factor of activated T cells 1	EWS RNA binding protein 1
	Synonyms	NF-ATC\|NF-ATc1.2\|NFAT2\|NFATc	EWS\|EWS-FLI1\|bK984G1.4
	Cytomap	18q23	22q12.2
	Type of gene	protein-coding	protein-coding
	Description	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	RNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogene
	Modification date	20200313	20200329
	UniProtAcc	O95644	Q01844
	Ensembl transtripts involved in fusion gene	ENST00000253506, ENST00000318065, ENST00000329101, ENST00000427363, ENST00000542384, ENST00000586434, ENST00000587635, ENST00000591814, ENST00000592223, ENST00000397790, ENST00000545796, ENST00000590172,	ENST00000331029, ENST00000332035, ENST00000333395, ENST00000414183, ENST00000332050, ENST00000397938, ENST00000406548,
Fusion gene scores	* DoF score	4 X 3 X 4=48	17 X 58 X 10=9860
	# samples	4	48
	** MAII score	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(48/9860*10)=-4.36048133565676 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: NFATC1 [Title/Abstract] AND EWSR1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint
Anticipated loss of major functional domain due to fusion event.	EWSR1-NFATC1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. EWSR1-NFATC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. EWSR1-NFATC1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. EWSR1-NFATC1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. NFATC1-EWSR1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. NFATC1-EWSR1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. NFATC1-EWSR1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. NFATC1-EWSR1 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	NFATC1	GO:0033173	calcineurin-NFAT signaling cascade	14979875
Hgene	NFATC1	GO:0035556	intracellular signal transduction	14749367
Hgene	NFATC1	GO:0045893	positive regulation of transcription, DNA-templated	14749367\|14979875
Hgene	NFATC1	GO:0045944	positive regulation of transcription by RNA polymerase II	14979875
Hgene	NFATC1	GO:1905064	negative regulation of vascular smooth muscle cell differentiation	23853098

Fusion gene breakpoints across NFATC1 (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 EWSR1 (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
ChimerKB3	.	.	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+

Top

Fusion Gene ORF analysis for NFATC1-EWSR1

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	ENST00000253506	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000253506	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000253506	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000253506	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000318065	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000318065	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000318065	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000318065	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000329101	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000329101	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000329101	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000329101	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000427363	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000427363	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000427363	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000427363	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000542384	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000542384	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000542384	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000542384	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000586434	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000586434	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000586434	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000586434	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000587635	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000587635	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000587635	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000587635	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000591814	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000591814	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000591814	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000591814	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000592223	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000592223	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000592223	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5CDS-intron	ENST00000592223	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-3CDS	ENST00000397790	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-3CDS	ENST00000397790	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-3CDS	ENST00000397790	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-3CDS	ENST00000545796	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-3CDS	ENST00000545796	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-3CDS	ENST00000545796	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-intron	ENST00000397790	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-intron	ENST00000397790	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-intron	ENST00000397790	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-intron	ENST00000397790	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-intron	ENST00000545796	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-intron	ENST00000545796	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-intron	ENST00000545796	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
5UTR-intron	ENST00000545796	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000253506	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000253506	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000253506	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000318065	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000318065	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000318065	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000329101	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000329101	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000329101	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000427363	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000427363	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000427363	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000542384	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000542384	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000542384	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000586434	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000586434	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000586434	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000587635	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000587635	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000587635	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000591814	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000591814	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000591814	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000592223	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000592223	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
Frame-shift	ENST00000592223	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
intron-3CDS	ENST00000590172	ENST00000332050	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
intron-3CDS	ENST00000590172	ENST00000397938	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
intron-3CDS	ENST00000590172	ENST00000406548	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
intron-intron	ENST00000590172	ENST00000331029	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
intron-intron	ENST00000590172	ENST00000332035	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
intron-intron	ENST00000590172	ENST00000333395	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+
intron-intron	ENST00000590172	ENST00000414183	NFATC1	chr18	77193738	+	EWSR1	chr22	29688125	+

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

Top

Fusion Genomic Features for NFATC1-EWSR1

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.

Top

Fusion Protein Features for NFATC1-EWSR1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:)
- 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
NFATC1 O95644	EWSR1 Q01844
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}.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

Top

Fusion Gene Sequence for NFATC1-EWSR1

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.

Top

Fusion Gene PPI Analysis for NFATC1-EWSR1

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

Top

Related Drugs for NFATC1-EWSR1

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

Top

Related Diseases for NFATC1-EWSR1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source