UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level1

	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:DPH7-PPP2R4

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: DPH7-PPP2R4
	FusionPDB ID: 23968
	FusionGDB2.0 ID: 99127
		Hgene	Tgene
	Gene symbol	DPH7	PPP2R4
	Gene ID	92715	5524
	Gene name	diphthamide biosynthesis 7	protein phosphatase 2 phosphatase activator
	Synonyms	C9orf112\|RRT2\|WDR85	PP2A\|PPP2R4\|PR53
	Cytomap	9q34.3	9q34.11
	Type of gene	protein-coding	protein-coding
	Description	diphthine methyltransferaseWD repeat-containing protein 85	serine/threonine-protein phosphatase 2A activatorPP2A phosphatase activatorPP2A subunit B' isoform PR53phosphotyrosyl phosphatase activatorprotein phosphatase 2 regulatory subunit 4protein phosphatase 2A activator, regulatory subunit 4protein phosph
	Modification date	20200313	20200329
	UniProtAcc	Q9BTV6	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000277540, ENST00000479650,	ENST00000347048, ENST00000355007, ENST00000357197, ENST00000414510, ENST00000419582, ENST00000423100, ENST00000432124, ENST00000432651, ENST00000434095, ENST00000435132, ENST00000435305, ENST00000436883, ENST00000524946, ENST00000337738, ENST00000348141, ENST00000358994, ENST00000393370, ENST00000452489,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 7 X 6=210	3 X 4 X 2=24
	# samples	7	4
	** MAII score	log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: DPH7 [Title/Abstract] AND PPP2R4 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	DPH7(140468660)-PPP2R4(131885331), # samples:1 DPH7(140470532)-PPP2R4(131885331), # samples:1
Anticipated loss of major functional domain due to fusion event.	DPH7-PPP2R4 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. DPH7-PPP2R4 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
Tgene	PPP2R4	GO:0032515	negative regulation of phosphoprotein phosphatase activity	16916641
Tgene	PPP2R4	GO:0032516	positive regulation of phosphoprotein phosphatase activity	16916641
Tgene	PPP2R4	GO:0035307	positive regulation of protein dephosphorylation	16916641
Tgene	PPP2R4	GO:0035308	negative regulation of protein dephosphorylation	16916641
Tgene	PPP2R4	GO:0043065	positive regulation of apoptotic process	17333320
Tgene	PPP2R4	GO:0043666	regulation of phosphoprotein phosphatase activity	16916641

Fusion gene breakpoints across DPH7 (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 PPP2R4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

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	BRCA	TCGA-E2-A159-01A	DPH7	chr9	140468660	-	PPP2R4	chr9	131885331	+
ChimerDB4	BRCA	TCGA-E2-A159-01A	DPH7	chr9	140470532	-	PPP2R4	chr9	131885331	+

Top

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)
ENST00000277540	DPH7	chr9	140470532	-	ENST00000358994	PPP2R4	chr9	131885331	+	2856	533	53	1375	440
ENST00000277540	DPH7	chr9	140470532	-	ENST00000393370	PPP2R4	chr9	131885331	+	2858	533	53	1375	440
ENST00000277540	DPH7	chr9	140470532	-	ENST00000337738	PPP2R4	chr9	131885331	+	2961	533	53	1480	475
ENST00000277540	DPH7	chr9	140470532	-	ENST00000348141	PPP2R4	chr9	131885331	+	2858	533	53	1375	440
ENST00000277540	DPH7	chr9	140470532	-	ENST00000452489	PPP2R4	chr9	131885331	+	2028	533	53	1528	491

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
ENST00000277540	ENST00000358994	DPH7	chr9	140470532	-	PPP2R4	chr9	131885331	+	0.001658418	0.99834156
ENST00000277540	ENST00000393370	DPH7	chr9	140470532	-	PPP2R4	chr9	131885331	+	0.001649094	0.998351
ENST00000277540	ENST00000337738	DPH7	chr9	140470532	-	PPP2R4	chr9	131885331	+	0.001609516	0.99839056
ENST00000277540	ENST00000348141	DPH7	chr9	140470532	-	PPP2R4	chr9	131885331	+	0.001649094	0.998351
ENST00000277540	ENST00000452489	DPH7	chr9	140470532	-	PPP2R4	chr9	131885331	+	0.002695938	0.9973041

Top

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

>23968_23968_1_DPH7-PPP2R4_DPH7_chr9_140470532_ENST00000277540_PPP2R4_chr9_131885331_ENST00000337738_length(amino acids)=475AA_BP=160
MRSSGRPRPRRPAQYPARPRRPASTAGSAPFPEGWMMGCFALQTVDTELTADSVEWCPLQGCRHLLACGTYQLRRPEDRPAGPQNKGGME
VKEPQVRLGRLFLYSFNDNNSIHPLVEVQRKDTSAILDMKWCHIPVAGHALLGLADASGSIQLLRLVESEAYADYIGFILTLNEGVKGKK
LTFEYRVSEMWNEVHEEKEQAAKQSVSCDECIPLPRAGHCAPSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDEEAEN
LVATVVPTHLAAAVPEVAVYLKESVGNSTRIDYGTGHEAAFAAFLCCLCKIGVLRVDDQIAIVFKVFNRYLEVMRKLQKTYRMEPAGSQG
VWGLDDFQFLPFIWGSSQLIDHPYLEPRHFVDEKAVNENHKDYMFLECILFITEMKTGPFAEHSNQLWNISAVPSWSKVNQGLIRMYKAE

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

>23968_23968_2_DPH7-PPP2R4_DPH7_chr9_140470532_ENST00000277540_PPP2R4_chr9_131885331_ENST00000348141_length(amino acids)=440AA_BP=160
MRSSGRPRPRRPAQYPARPRRPASTAGSAPFPEGWMMGCFALQTVDTELTADSVEWCPLQGCRHLLACGTYQLRRPEDRPAGPQNKGGME
VKEPQVRLGRLFLYSFNDNNSIHPLVEVQRKDTSAILDMKWCHIPVAGHALLGLADASGSIQLLRLVESEAYADYIGFILTLNEGVKGKK
LTFEYRVSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDEEAENLVATVVPTHLAAAVPEVAVYLKESVGNSTRIDYGT
GHEAAFAAFLCCLCKIGVLRVDDQIAIVFKVFNRYLEVMRKLQKTYRMEPAGSQGVWGLDDFQFLPFIWGSSQLIDHPYLEPRHFVDEKA

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

>23968_23968_3_DPH7-PPP2R4_DPH7_chr9_140470532_ENST00000277540_PPP2R4_chr9_131885331_ENST00000358994_length(amino acids)=440AA_BP=160
MRSSGRPRPRRPAQYPARPRRPASTAGSAPFPEGWMMGCFALQTVDTELTADSVEWCPLQGCRHLLACGTYQLRRPEDRPAGPQNKGGME
VKEPQVRLGRLFLYSFNDNNSIHPLVEVQRKDTSAILDMKWCHIPVAGHALLGLADASGSIQLLRLVESEAYADYIGFILTLNEGVKGKK
LTFEYRVSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDEEAENLVATVVPTHLAAAVPEVAVYLKESVGNSTRIDYGT
GHEAAFAAFLCCLCKIGVLRVDDQIAIVFKVFNRYLEVMRKLQKTYRMEPAGSQGVWGLDDFQFLPFIWGSSQLIDHPYLEPRHFVDEKA

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

>23968_23968_4_DPH7-PPP2R4_DPH7_chr9_140470532_ENST00000277540_PPP2R4_chr9_131885331_ENST00000393370_length(amino acids)=440AA_BP=160
MRSSGRPRPRRPAQYPARPRRPASTAGSAPFPEGWMMGCFALQTVDTELTADSVEWCPLQGCRHLLACGTYQLRRPEDRPAGPQNKGGME
VKEPQVRLGRLFLYSFNDNNSIHPLVEVQRKDTSAILDMKWCHIPVAGHALLGLADASGSIQLLRLVESEAYADYIGFILTLNEGVKGKK
LTFEYRVSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDEEAENLVATVVPTHLAAAVPEVAVYLKESVGNSTRIDYGT
GHEAAFAAFLCCLCKIGVLRVDDQIAIVFKVFNRYLEVMRKLQKTYRMEPAGSQGVWGLDDFQFLPFIWGSSQLIDHPYLEPRHFVDEKA

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

>23968_23968_5_DPH7-PPP2R4_DPH7_chr9_140470532_ENST00000277540_PPP2R4_chr9_131885331_ENST00000452489_length(amino acids)=491AA_BP=160
MRSSGRPRPRRPAQYPARPRRPASTAGSAPFPEGWMMGCFALQTVDTELTADSVEWCPLQGCRHLLACGTYQLRRPEDRPAGPQNKGGME
VKEPQVRLGRLFLYSFNDNNSIHPLVEVQRKDTSAILDMKWCHIPVAGHALLGLADASGSIQLLRLVESEAYADYIGFILTLNEGVKGKK
LTFEYRVSEMWNEVHEEKEQAAKQSVSCDECIPLPRAGHCAPSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDEEAEN
LVATVVPTHLAAAVPEVAVYLKESVGNSTRIDYGTGHEAAFAAFLCCLCKIGVLRVDDQIAIVFKVFNRYLEVMRKLQKTYRMEPAGSQG
VWGLDDFQFLPFIWGSSQLIDHPYLEPRHFVDEKAVNENHKDYMFLECILFITEMKTGPFAEHSNQLWNISAVPSWSKVNQGLIRMYKAE

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

Top

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/chr9:140468660/chr9:131885331)
- 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
DPH7 Q9BTV6	.
FUNCTION: Catalyzes the demethylation of diphthine methyl ester to form diphthine, an intermediate diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta). {ECO:0000250\|UniProtKB:P38332, ECO:0000269\|PubMed:19965467, ECO:0000269\|PubMed:23486472}.	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

PPP2R4

chr9:140470532

chr9:131885331

ENST00000337738

183_189

43.0

359.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000337738

240_242

43.0

359.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000337738

342_343

43.0

359.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000355007

183_189

43.0

282.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000355007

240_242

43.0

282.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000355007

342_343

43.0

282.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000357197

183_189

295.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000357197

240_242

295.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000357197

342_343

295.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000358994

183_189

43.0

324.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000358994

240_242

43.0

324.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000358994

342_343

43.0

324.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000393370

183_189

43.0

324.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000393370

240_242

43.0

324.0

Nucleotide binding

Note=ATP

Tgene

PPP2R4

chr9:140470532

chr9:131885331

ENST00000393370

342_343

43.0

324.0

Nucleotide binding

Note=ATP

- 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

DPH7

chr9:140470532

chr9:131885331

ENST00000277540

131_185

125.0

453.0

Repeat

Note=WD 2

Hgene

DPH7

chr9:140470532

chr9:131885331

ENST00000277540

186_229

125.0

453.0

Repeat

Note=WD 3

Hgene

DPH7

chr9:140470532

chr9:131885331

ENST00000277540

230_273

125.0

453.0

Repeat

Note=WD 4

Hgene

DPH7

chr9:140470532

chr9:131885331

ENST00000277540

274_313

125.0

453.0

Repeat

Note=WD 5

Hgene

DPH7

chr9:140470532

chr9:131885331

ENST00000277540

314_403

125.0

453.0

Repeat

Note=WD 6

Hgene

DPH7

chr9:140470532

chr9:131885331

ENST00000277540

404_448

125.0

453.0

Repeat

Note=WD 7

Hgene

DPH7

chr9:140470532

chr9:131885331

ENST00000277540

79_130

125.0

453.0

Repeat

Note=WD 1

Top

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
DPH7
PPP2R4

- 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

Top

Related Drugs to DPH7-PPP2R4

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to DPH7-PPP2R4

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