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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:TGFB1-ERF

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: TGFB1-ERF
	FusionPDB ID: 90426
	FusionGDB2.0 ID: 90426
		Hgene	Tgene
	Gene symbol	TGFB1	ERF
	Gene ID	7040	2107
	Gene name	transforming growth factor beta 1	eukaryotic translation termination factor 1
	Synonyms	CED\|DPD1\|IBDIMDE\|LAP\|TGF-beta1\|TGFB\|TGFbeta	D5S1995\|ERF\|ERF1\|RF1\|SUP45L1\|TB3-1
	Cytomap	19q13.2	5q31.2
	Type of gene	protein-coding	protein-coding
	Description	transforming growth factor beta-1 proproteinTGF-beta-1latency-associated peptideprepro-transforming growth factor beta-1transforming growth factor beta1	eukaryotic peptide chain release factor subunit 1polypeptide chain release factor 1protein Cl1sup45 (yeast omnipotent suppressor 45) homolog-like 1
	Modification date	20200329	20200329
	UniProtAcc	TIAF1	Q4G0M1
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000221930,	ENST00000440177, ENST00000595941, ENST00000222329,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	7 X 7 X 6=294	4 X 3 X 3=36
	# samples	9	4
	** MAII score	log2(9/294*10)=-1.70781924850669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: TGFB1 [Title/Abstract] AND ERF [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	TGFB1(41850651)-ERF(42754717), # samples:1
Anticipated loss of major functional domain due to fusion event.	TGFB1-ERF 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. TGFB1-ERF 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. TGFB1-ERF 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. TGFB1-ERF 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.

* 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	TGFB1	GO:0001837	epithelial to mesenchymal transition	25893292\|29529050
Hgene	TGFB1	GO:0001933	negative regulation of protein phosphorylation	8053900
Hgene	TGFB1	GO:0001934	positive regulation of protein phosphorylation	18625725
Hgene	TGFB1	GO:0002062	chondrocyte differentiation	15040835
Hgene	TGFB1	GO:0002244	hematopoietic progenitor cell differentiation	15451575
Hgene	TGFB1	GO:0006611	protein export from nucleus	9770491\|17438144\|18588859
Hgene	TGFB1	GO:0006754	ATP biosynthetic process	10513816
Hgene	TGFB1	GO:0006796	phosphate-containing compound metabolic process	10513816
Hgene	TGFB1	GO:0006954	inflammatory response	21147091
Hgene	TGFB1	GO:0007050	cell cycle arrest	14555988
Hgene	TGFB1	GO:0007093	mitotic cell cycle checkpoint	15334054
Hgene	TGFB1	GO:0007173	epidermal growth factor receptor signaling pathway	18625725
Hgene	TGFB1	GO:0007179	transforming growth factor beta receptor signaling pathway	9389648\|11157754
Hgene	TGFB1	GO:0007182	common-partner SMAD protein phosphorylation	20573232
Hgene	TGFB1	GO:0007183	SMAD protein complex assembly	17438144
Hgene	TGFB1	GO:0008284	positive regulation of cell proliferation	10513816\|14633705
Hgene	TGFB1	GO:0008285	negative regulation of cell proliferation	15334054
Hgene	TGFB1	GO:0010628	positive regulation of gene expression	18625725\|18832382\|18941241\|19913496\|25322725\|26634652\|26687115\|27162619\|29167509
Hgene	TGFB1	GO:0010629	negative regulation of gene expression	19913496\|20067797\|22269326\|25163461\|26634652\|29167509\|29529050
Hgene	TGFB1	GO:0010718	positive regulation of epithelial to mesenchymal transition	17999987\|18505915
Hgene	TGFB1	GO:0010763	positive regulation of fibroblast migration	18555217
Hgene	TGFB1	GO:0010800	positive regulation of peptidyl-threonine phosphorylation	18625725\|19736306
Hgene	TGFB1	GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	9389648\|19736306\|26634652
Hgene	TGFB1	GO:0010936	negative regulation of macrophage cytokine production	20875417
Hgene	TGFB1	GO:0016477	cell migration	25893292
Hgene	TGFB1	GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	15334054
Hgene	TGFB1	GO:0022408	negative regulation of cell-cell adhesion	18593713
Hgene	TGFB1	GO:0030214	hyaluronan catabolic process	17324121
Hgene	TGFB1	GO:0030308	negative regulation of cell growth	15334054
Hgene	TGFB1	GO:0030335	positive regulation of cell migration	19736306
Hgene	TGFB1	GO:0031293	membrane protein intracellular domain proteolysis	25310401
Hgene	TGFB1	GO:0031334	positive regulation of protein complex assembly	19366691
Hgene	TGFB1	GO:0031663	lipopolysaccharide-mediated signaling pathway	21147091
Hgene	TGFB1	GO:0032270	positive regulation of cellular protein metabolic process	15219857
Hgene	TGFB1	GO:0032355	response to estradiol	18039789
Hgene	TGFB1	GO:0032570	response to progesterone	18039789
Hgene	TGFB1	GO:0032740	positive regulation of interleukin-17 production	18453574
Hgene	TGFB1	GO:0032801	receptor catabolic process	17878231
Hgene	TGFB1	GO:0032930	positive regulation of superoxide anion generation	22073128
Hgene	TGFB1	GO:0032967	positive regulation of collagen biosynthetic process	19734317\|22269326\|25310401
Hgene	TGFB1	GO:0033138	positive regulation of peptidyl-serine phosphorylation	18625725\|19736306
Hgene	TGFB1	GO:0035307	positive regulation of protein dephosphorylation	14555988
Hgene	TGFB1	GO:0042307	positive regulation of protein import into nucleus	19366691
Hgene	TGFB1	GO:0043117	positive regulation of vascular permeability	21168935
Hgene	TGFB1	GO:0043406	positive regulation of MAP kinase activity	18625725
Hgene	TGFB1	GO:0043536	positive regulation of blood vessel endothelial cell migration	18555217
Hgene	TGFB1	GO:0043537	negative regulation of blood vessel endothelial cell migration	18555217
Hgene	TGFB1	GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	18625725
Hgene	TGFB1	GO:0045216	cell-cell junction organization	18505915
Hgene	TGFB1	GO:0045599	negative regulation of fat cell differentiation	15040835
Hgene	TGFB1	GO:0045662	negative regulation of myoblast differentiation	9770491
Hgene	TGFB1	GO:0045786	negative regulation of cell cycle	11502704
Hgene	TGFB1	GO:0045892	negative regulation of transcription, DNA-templated	15702480\|18832382
Hgene	TGFB1	GO:0045893	positive regulation of transcription, DNA-templated	9389648\|14517293\|15334054\|16816361
Hgene	TGFB1	GO:0045918	negative regulation of cytolysis	24586048
Hgene	TGFB1	GO:0045930	negative regulation of mitotic cell cycle	14555988
Hgene	TGFB1	GO:0045944	positive regulation of transcription by RNA polymerase II	18832382
Hgene	TGFB1	GO:0048298	positive regulation of isotype switching to IgA isotypes	14988498
Hgene	TGFB1	GO:0048642	negative regulation of skeletal muscle tissue development	9770491
Hgene	TGFB1	GO:0050680	negative regulation of epithelial cell proliferation	9950587
Hgene	TGFB1	GO:0050714	positive regulation of protein secretion	18505915
Hgene	TGFB1	GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	21168935
Hgene	TGFB1	GO:0050921	positive regulation of chemotaxis	18555217
Hgene	TGFB1	GO:0051897	positive regulation of protein kinase B signaling	18625725
Hgene	TGFB1	GO:0060389	pathway-restricted SMAD protein phosphorylation	11157754\|17999987\|18453574\|25893292
Hgene	TGFB1	GO:0060390	regulation of SMAD protein signal transduction	25893292
Hgene	TGFB1	GO:0060391	positive regulation of SMAD protein signal transduction	9389648\|19366691\|29167509
Hgene	TGFB1	GO:0070168	negative regulation of biomineral tissue development	26634652
Hgene	TGFB1	GO:0070374	positive regulation of ERK1 and ERK2 cascade	25310401
Hgene	TGFB1	GO:0070723	response to cholesterol	17878231
Hgene	TGFB1	GO:0071407	cellular response to organic cyclic compound	21147091
Hgene	TGFB1	GO:0071560	cellular response to transforming growth factor beta stimulus	19736306\|22269326
Hgene	TGFB1	GO:0085029	extracellular matrix assembly	19734317
Hgene	TGFB1	GO:0090263	positive regulation of canonical Wnt signaling pathway	12893825\|15040835
Hgene	TGFB1	GO:0097191	extrinsic apoptotic signaling pathway	15334054
Hgene	TGFB1	GO:1900126	negative regulation of hyaluronan biosynthetic process	17324121
Hgene	TGFB1	GO:1900182	positive regulation of protein localization to nucleus	26634652
Hgene	TGFB1	GO:1901666	positive regulation of NAD+ ADP-ribosyltransferase activity	22073128
Hgene	TGFB1	GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	26311719\|26493107
Hgene	TGFB1	GO:1903077	negative regulation of protein localization to plasma membrane	21168935\|24586048
Hgene	TGFB1	GO:1903800	positive regulation of production of miRNAs involved in gene silencing by miRNA	18548003
Hgene	TGFB1	GO:2000679	positive regulation of transcription regulatory region DNA binding	22073128
Hgene	TGFB1	GO:2000727	positive regulation of cardiac muscle cell differentiation	25163461
Tgene	ERF	GO:0006415	translational termination	7990965
Tgene	ERF	GO:0006479	protein methylation	18539146

Fusion gene breakpoints across TGFB1 (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 ERF (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	STAD	TCGA-VQ-A922	TGFB1	chr19	41850651	-	ERF	chr19	42754717	-

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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)

ENST00000221930

TGFB1

chr19

41850651

ENST00000222329

ERF

chr19

42754717

4019

1501

171

3125

984

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
ENST00000221930	ENST00000222329	TGFB1	chr19	41850651	-	ERF	chr19	42754717	-	0.004881777	0.99511826

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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

>90426_90426_1_TGFB1-ERF_TGFB1_chr19_41850651_ENST00000221930_ERF_chr19_42754717_ENST00000222329_length(amino acids)=984AA_BP=443
MRPQSLRRAAAAPATAGRRGRRSGRRDELVGRRGKKLLRLFRCRWEPEARGPLGATLPREEAGLGDPRPPPFAAGDACSLPAPYTASLRR
PHSGPALGSRRPGLPQRLFPRPRAHPLHAAFIPGLSPEPPRILDPFSSRRRISLRPATDPLFKTTHLLVPDRAHLGYFRGILRHPRSKPP
LHHCALLPEDLSFPSRPSYLLPGDPQPLQGRGLPTTPALFALSAVPGGAASPMPPSGLRLLPLLLPLLWLLVLTPGRPAAGLSTCKTIDM
ELVKRKRIEAIRGQILSKLRLASPPSQGEVPPGPLPEAVLALYNSTRDRVAGESAEPEPEPEADYYAKEVTRVLMVETHNEIYDKFKQST
HSIYMFFNTSELREAVPEPVLLSRAELRLLRLKLKVEQHVELYQKYSNNSWRYLSNRLLAPSDSPEWLSFDVTGVVRQWLSRGGFAFPDW
AYKPESSPGSRQIQLWHFILELLRKEEYQGVIAWQGDYGEFVIKDPDEVARLWGVRKCKPQMNYDKLSRALRYYYNKRILHKTKGKRFTY
KFNFNKLVLVNYPFIDVGLAGGAVPQSAPPVPSGGSHFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARRLGRGSVSDCSDGTS
ELEEPLGEDPRARPPGPPDLGAFRGPPLARLPHDPGVFRVYPRPRGGPEPLSPFPVSPLAGPGSLLPPQLSPALPMTPTHLAYTPSPTLS
PMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQAHTQSVYNYHLSPRAFLHYPGLVVPQPQRPDKCPLPPMAPETPPVPSSASSSSSSSSSP
FKFKLQPPPLGRRQRAAGEKAVAGADKSGGSAGGLAEGAGALAPPPPPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRAPPAPP

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

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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/chr19:41850651/chr19:42754717)
- 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
TGFB1 TIAF1	ERF Q4G0M1
115	FUNCTION: Iron-regulatory hormone that acts as an erythroid regulator after hemorrhage: produced by erythroblasts following blood loss and mediates suppression of hepcidin (HAMP) expression in the liver, thereby promoting increased iron absorption and mobilization from stores. Promotes lipid uptake into adipocytes and hepatocytes via transcriptional up-regulation of genes involved in fatty acid uptake. {ECO:0000250\|UniProtKB:Q6PGN1}.

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

Hgene

TGFB1

chr19:41850651

chr19:42754717

ENST00000221930

30_74

211.33333333333334

391.0

Region

Straightjacket domain

Tgene

ERF

chr19:41850651

chr19:42754717

ENST00000222329

166_171

7.333333333333333

549.0

Compositional bias

Note=Poly-Ser

Tgene

ERF

chr19:41850651

chr19:42754717

ENST00000222329

290_293

7.333333333333333

549.0

Compositional bias

Note=Poly-Gly

Tgene

ERF

chr19:41850651

chr19:42754717

ENST00000222329

362_373

7.333333333333333

549.0

Compositional bias

Note=Poly-Ser

Tgene

ERF

chr19:41850651

chr19:42754717

ENST00000222329

418_423

7.333333333333333

549.0

Compositional bias

Note=Poly-Pro

Tgene

ERF

chr19:41850651

chr19:42754717

ENST00000222329

496_499

7.333333333333333

549.0

Compositional bias

Note=Poly-Gly

Tgene

ERF

chr19:41850651

chr19:42754717

ENST00000222329

27_107

7.333333333333333

549.0

DNA binding

ETS

- 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

TGFB1

chr19:41850651

chr19:42754717

ENST00000221930

244_246

211.33333333333334

391.0

Motif

Cell attachment site

Hgene

TGFB1

chr19:41850651

chr19:42754717

ENST00000221930

226_252

211.33333333333334

391.0

Region

Bowtie tail

Hgene

TGFB1

chr19:41850651

chr19:42754717

ENST00000221930

75_271

211.33333333333334

391.0

Region

Arm domain

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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
TGFB1
ERF

- 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

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Related Drugs to TGFB1-ERF

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 TGFB1-ERF

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