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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:TGFBR3-NRD1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: TGFBR3-NRD1
	FusionPDB ID: 90479
	FusionGDB2.0 ID: 90480
		Hgene	Tgene
	Gene symbol	TGFBR3	NRD1
	Gene ID	7049	4898
	Gene name	transforming growth factor beta receptor 3	nardilysin convertase
	Synonyms	BGCAN\|betaglycan	NRD1\|hNRD1\|hNRD2
	Cytomap	1p22.1	1p32.3
	Type of gene	protein-coding	protein-coding
	Description	transforming growth factor beta receptor type 3TGF-beta receptor type 3TGF-beta receptor type IIITGFR-3betaglycan proteoglycantransforming growth factor beta receptor III	nardilysinNRD convertasenardilysin (N-arginine dibasic convertase)
	Modification date	20200313	20200320
	UniProtAcc	.	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000212355, ENST00000370399, ENST00000525962, ENST00000468996,	ENST00000539524, ENST00000544028, ENST00000485608, ENST00000352171, ENST00000354831,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	14 X 13 X 6=1092	14 X 6 X 7=588
	# samples	15	14
	** MAII score	log2(15/1092*10)=-2.86393845042397 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(14/588*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: TGFBR3 [Title/Abstract] AND NRD1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	TGFBR3(92327028)-NRD1(52306186), # samples:1
Anticipated loss of major functional domain due to fusion event.	TGFBR3-NRD1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. TGFBR3-NRD1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. TGFBR3-NRD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. TGFBR3-NRD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. TGFBR3-NRD1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. TGFBR3-NRD1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. TGFBR3-NRD1 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	TGFBR3	GO:0001837	epithelial to mesenchymal transition	18184661
Hgene	TGFBR3	GO:0007179	transforming growth factor beta receptor signaling pathway	12958365
Hgene	TGFBR3	GO:0030509	BMP signaling pathway	18184661
Hgene	TGFBR3	GO:0032354	response to follicle-stimulating hormone	14557487
Hgene	TGFBR3	GO:0034695	response to prostaglandin E	14557487
Hgene	TGFBR3	GO:0034699	response to luteinizing hormone	14557487
Hgene	TGFBR3	GO:0051271	negative regulation of cellular component movement	17999987
Hgene	TGFBR3	GO:0060317	cardiac epithelial to mesenchymal transition	18184661
Tgene	NRD1	GO:0051044	positive regulation of membrane protein ectodomain proteolysis	18355445
Tgene	NRD1	GO:0052548	regulation of endopeptidase activity	18355445

Fusion gene breakpoints across TGFBR3 (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 NRD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	SKCM	TCGA-EB-A82C-01A	TGFBR3	chr1	92327028	-	NRD1	chr1	52306186	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000212355	TGFBR3	chr1	92327028	-	ENST00000354831	NRD1	chr1	52306186	-	3891	527	435	3845	1136
ENST00000212355	TGFBR3	chr1	92327028	-	ENST00000352171	NRD1	chr1	52306186	-	3687	527	435	3641	1068
ENST00000370399	TGFBR3	chr1	92327028	-	ENST00000354831	NRD1	chr1	52306186	-	4109	745	653	4063	1136
ENST00000370399	TGFBR3	chr1	92327028	-	ENST00000352171	NRD1	chr1	52306186	-	3905	745	653	3859	1068

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
ENST00000212355	ENST00000354831	TGFBR3	chr1	92327028	-	NRD1	chr1	52306186	-	0.001306773	0.9986933
ENST00000212355	ENST00000352171	TGFBR3	chr1	92327028	-	NRD1	chr1	52306186	-	0.001195791	0.9988042
ENST00000370399	ENST00000354831	TGFBR3	chr1	92327028	-	NRD1	chr1	52306186	-	0.001402271	0.9985977
ENST00000370399	ENST00000352171	TGFBR3	chr1	92327028	-	NRD1	chr1	52306186	-	0.001277537	0.9987225

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>90479_90479_1_TGFBR3-NRD1_TGFBR3_chr1_92327028_ENST00000212355_NRD1_chr1_52306186_ENST00000352171_length(amino acids)=1068AA_BP=26
MDETHCWRNKNDFPLCDCHLCPDELLFSHCRYIKLQNGLQALLISDLSNMEGKTGNTTDDEEEEEVEEEEEDDDEDSGAEIEDDDEEGFD
DEDEFDDEHDDDLDTEDNELEELEERAEARKKTTEKQSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSD
NASTDCERTVFQFDVQRKYFKEALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKH
EPRKNNIDTHARLREFWMRYYSSHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPRPNFGHLTDPFDTPAFNKLYRVVPIRKIHALTIT
WALPPQQQHYRVKPLHYISWLVGHEGKGSILSFLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAYTVFQYLKMLQ
KLGPEKRIFEEIRKIEDNEFHYQEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALNQLVPQKANLVLLSGANEGKCDLK
EKWFGTQYSIEDIENSWAELWNSNFELNPDLHLPAENKYIATDFTLKAFDCPETEYPVKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISP
LIQKSAANVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLAEFNSTPAVFTMITEQLKKTYF
NILIKPETLAKDVRLLILEYARWSMIDKYQALMDGLSLESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQ
FQVVELPSGHHLCKVKALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQA
TKYNSEVVDKKIEEFLSSFEEKIENLTEEAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFK

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

>90479_90479_2_TGFBR3-NRD1_TGFBR3_chr1_92327028_ENST00000212355_NRD1_chr1_52306186_ENST00000354831_length(amino acids)=1136AA_BP=26
MDETHCWRNKNDFPLCDCHLCPDELLFSHCRYIKLQNGLQALLISDLSNMEGKTGNTTDDEEEEEVEEEEEDDDEDSGAEIEDDDEEGFD
DEDEFDDEHDDDLDTEDNELEELEERAEARKKTTEKQQLQSLFLLWSKLTDRLWFKSTYSKMSSTLLVETRNLYGVVGAESRSAPVQHLA
GWQAEEQQGETDTVLSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSDNASTDCERTVFQFDVQRKYFKE
ALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKHEPRKNNIDTHARLREFWMRYYS
SHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPRPNFGHLTDPFDTPAFNKLYRVVPIRKIHALTITWALPPQQQHYRVKPLHYISWLV
GHEGKGSILSFLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAYTVFQYLKMLQKLGPEKRIFEEIRKIEDNEFHY
QEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALNQLVPQKANLVLLSGANEGKCDLKEKWFGTQYSIEDIENSWAELWN
SNFELNPDLHLPAENKYIATDFTLKAFDCPETEYPVKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISPLIQKSAANVVLFDIFVNILTHN
LAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLAEFNSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYAR
WSMIDKYQALMDGLSLESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQFQVVELPSGHHLCKVKALNKGD
ANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQATKYNSEVVDKKIEEFLSSFEEK
IENLTEEAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFKAHRGPGSKMLSVHVVGYGKYEL

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

>90479_90479_3_TGFBR3-NRD1_TGFBR3_chr1_92327028_ENST00000370399_NRD1_chr1_52306186_ENST00000352171_length(amino acids)=1068AA_BP=26
MDETHCWRNKNDFPLCDCHLCPDELLFSHCRYIKLQNGLQALLISDLSNMEGKTGNTTDDEEEEEVEEEEEDDDEDSGAEIEDDDEEGFD
DEDEFDDEHDDDLDTEDNELEELEERAEARKKTTEKQSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSD
NASTDCERTVFQFDVQRKYFKEALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKH
EPRKNNIDTHARLREFWMRYYSSHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPRPNFGHLTDPFDTPAFNKLYRVVPIRKIHALTIT
WALPPQQQHYRVKPLHYISWLVGHEGKGSILSFLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAYTVFQYLKMLQ
KLGPEKRIFEEIRKIEDNEFHYQEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALNQLVPQKANLVLLSGANEGKCDLK
EKWFGTQYSIEDIENSWAELWNSNFELNPDLHLPAENKYIATDFTLKAFDCPETEYPVKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISP
LIQKSAANVVLFDIFVNILTHNLAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLAEFNSTPAVFTMITEQLKKTYF
NILIKPETLAKDVRLLILEYARWSMIDKYQALMDGLSLESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQ
FQVVELPSGHHLCKVKALNKGDANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQA
TKYNSEVVDKKIEEFLSSFEEKIENLTEEAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFK

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

>90479_90479_4_TGFBR3-NRD1_TGFBR3_chr1_92327028_ENST00000370399_NRD1_chr1_52306186_ENST00000354831_length(amino acids)=1136AA_BP=26
MDETHCWRNKNDFPLCDCHLCPDELLFSHCRYIKLQNGLQALLISDLSNMEGKTGNTTDDEEEEEVEEEEEDDDEDSGAEIEDDDEEGFD
DEDEFDDEHDDDLDTEDNELEELEERAEARKKTTEKQQLQSLFLLWSKLTDRLWFKSTYSKMSSTLLVETRNLYGVVGAESRSAPVQHLA
GWQAEEQQGETDTVLSAAALCVGVGSFADPDDLPGLAHFLEHMVFMGSLKYPDENGFDAFLKKHGGSDNASTDCERTVFQFDVQRKYFKE
ALDRWAQFFIHPLMIRDAIDREVEAVDSEYQLARPSDANRKEMLFGSLARPGHPMGKFFWGNAETLKHEPRKNNIDTHARLREFWMRYYS
SHYMTLVVQSKETLDTLEKWVTEIFSQIPNNGLPRPNFGHLTDPFDTPAFNKLYRVVPIRKIHALTITWALPPQQQHYRVKPLHYISWLV
GHEGKGSILSFLRKKCWALALFGGNGETGFEQNSTYSVFSISITLTDEGYEHFYEVAYTVFQYLKMLQKLGPEKRIFEEIRKIEDNEFHY
QEQTDPVEYVENMCENMQLYPLQDILTGDQLLFEYKPEVIGEALNQLVPQKANLVLLSGANEGKCDLKEKWFGTQYSIEDIENSWAELWN
SNFELNPDLHLPAENKYIATDFTLKAFDCPETEYPVKIVNTPQGCLWYKKDNKFKIPKAYIRFHLISPLIQKSAANVVLFDIFVNILTHN
LAEPAYEADVAQLEYKLVAGEHGLIIRVKGFNHKLPLLFQLIIDYLAEFNSTPAVFTMITEQLKKTYFNILIKPETLAKDVRLLILEYAR
WSMIDKYQALMDGLSLESLLSFVKEFKSQLFVEGLVQGNVTSTESMDFLKYVVDKLNFKPLEQEMPVQFQVVELPSGHHLCKVKALNKGD
ANSEVTVYYQSGTRSLREYTLMELLVMHMEEPCFDFLRTKQTLGYHVYPTCRNTSGILGFSVTVGTQATKYNSEVVDKKIEEFLSSFEEK
IENLTEEAFNTQVTALIKLKECEDTHLGEEVDRNWNEVVTQQYLFDRLAHEIEALKSFSKSDLVNWFKAHRGPGSKMLSVHVVGYGKYEL

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:92327028/chr1:52306186)
- 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
.	.
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.	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.

- 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

Tgene

NRD1

chr1:92327028

chr1:52306186

ENST00000352171

142_201

113.66666666666667

1152.0

Compositional bias

Note=Asp/Glu-rich (highly acidic)

Tgene

NRD1

chr1:92327028

chr1:52306186

ENST00000352171

144_153

113.66666666666667

1152.0

Compositional bias

Note=Poly-Glu

- 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

TGFBR3

chr1:92327028

chr1:52306186

ENST00000212355

455_730

20.333333333333332

852.0

Domain

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000370399

455_730

20.333333333333332

851.0

Domain

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000525962

455_730

20.333333333333332

852.0

Domain

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000212355

21_787

20.333333333333332

852.0

Topological domain

Extracellular

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000212355

810_851

20.333333333333332

852.0

Topological domain

Cytoplasmic

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000370399

21_787

20.333333333333332

851.0

Topological domain

Extracellular

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000370399

810_851

20.333333333333332

851.0

Topological domain

Cytoplasmic

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000525962

21_787

20.333333333333332

852.0

Topological domain

Extracellular

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000525962

810_851

20.333333333333332

852.0

Topological domain

Cytoplasmic

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000212355

788_809

20.333333333333332

852.0

Transmembrane

Helical

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000370399

788_809

20.333333333333332

851.0

Transmembrane

Helical

Hgene

TGFBR3

chr1:92327028

chr1:52306186

ENST00000525962

788_809

20.333333333333332

852.0

Transmembrane

Helical

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
TGFBR3
NRD1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	TGFBR3	chr1:92327028	chr1:52306186	ENST00000212355	-	2	17	737_751	20.333333333333332	852.0	TGF-beta ligand
Hgene	TGFBR3	chr1:92327028	chr1:52306186	ENST00000370399	-	3	18	737_751	20.333333333333332	851.0	TGF-beta ligand
Hgene	TGFBR3	chr1:92327028	chr1:52306186	ENST00000525962	-	1	16	737_751	20.333333333333332	852.0	TGF-beta ligand

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Related Drugs to TGFBR3-NRD1

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to TGFBR3-NRD1

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source