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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:PARK7-GNB1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: PARK7-GNB1
	FusionPDB ID: 62768
	FusionGDB2.0 ID: 62768
		Hgene	Tgene
	Gene symbol	PARK7	GNB1
	Gene ID	11315	2782
	Gene name	Parkinsonism associated deglycase	G protein subunit beta 1
	Synonyms	DJ-1\|DJ1\|GATD2\|HEL-S-67p	MRD42
	Cytomap	1p36.23	1p36.33
	Type of gene	protein-coding	protein-coding
	Description	protein/nucleic acid deglycase DJ-1Parkinson disease (autosomal recessive, early onset) 7epididymis secretory sperm binding protein Li 67pmaillard deglycaseoncogene DJ1parkinson protein 7protein DJ-1protein deglycase DJ-1	guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1beta subunit, signal-transducing proteins GS/GIguanine nucleotide binding protein (G protein), beta polypeptide 1testicular tissue protein Li 72transducin beta chain 1
	Modification date	20200327	20200321
	UniProtAcc	.	Q9BYB4
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000497113, ENST00000338639, ENST00000377488, ENST00000377491, ENST00000377493, ENST00000493678,	ENST00000378609, ENST00000472614,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 5 X 4=100	39 X 29 X 13=14703
	# samples	6	48
	** MAII score	log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(48/14703*10)=-4.93693233652239 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: PARK7 [Title/Abstract] AND GNB1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	PARK7(8022935)-GNB1(1749314), # samples:1
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)

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	PARK7	GO:0006281	DNA repair	28596309
Hgene	PARK7	GO:0006517	protein deglycosylation	25416785
Hgene	PARK7	GO:0006517	protein deglycosylation	27903648
Hgene	PARK7	GO:0009438	methylglyoxal metabolic process	22523093
Hgene	PARK7	GO:0009438	methylglyoxal metabolic process	27903648
Hgene	PARK7	GO:0010629	negative regulation of gene expression	22683601
Hgene	PARK7	GO:0019249	lactate biosynthetic process	22523093
Hgene	PARK7	GO:0031334	positive regulation of protein complex assembly	24947010
Hgene	PARK7	GO:0031397	negative regulation of protein ubiquitination	17015834\|24899725
Hgene	PARK7	GO:0032091	negative regulation of protein binding	11477070\|16731528\|17015834\|24899725
Hgene	PARK7	GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	17015834
Hgene	PARK7	GO:0032757	positive regulation of interleukin-8 production	21097510
Hgene	PARK7	GO:0033234	negative regulation of protein sumoylation	16731528
Hgene	PARK7	GO:0034599	cellular response to oxidative stress	15983381\|19703902\|20969476\|22683601
Hgene	PARK7	GO:0036471	cellular response to glyoxal	22523093
Hgene	PARK7	GO:0036526	peptidyl-cysteine deglycation	25416785
Hgene	PARK7	GO:0036527	peptidyl-arginine deglycation	25416785
Hgene	PARK7	GO:0036528	peptidyl-lysine deglycation	25416785
Hgene	PARK7	GO:0036529	protein deglycation, glyoxal removal	25416785
Hgene	PARK7	GO:0036530	protein deglycation, methylglyoxal removal	25416785
Hgene	PARK7	GO:0036530	protein deglycation, methylglyoxal removal	27903648
Hgene	PARK7	GO:0036531	glutathione deglycation	25416785
Hgene	PARK7	GO:0042743	hydrogen peroxide metabolic process	20969476\|24567322
Hgene	PARK7	GO:0043066	negative regulation of apoptotic process	22523093
Hgene	PARK7	GO:0043523	regulation of neuron apoptotic process	18711745\|20304780
Hgene	PARK7	GO:0043524	negative regulation of neuron apoptotic process	22511790
Hgene	PARK7	GO:0045944	positive regulation of transcription by RNA polymerase II	21097510
Hgene	PARK7	GO:0046295	glycolate biosynthetic process	22523093
Hgene	PARK7	GO:0050821	protein stabilization	24947010
Hgene	PARK7	GO:0051444	negative regulation of ubiquitin-protein transferase activity	24899725
Hgene	PARK7	GO:0060548	negative regulation of cell death	14749723
Hgene	PARK7	GO:0060765	regulation of androgen receptor signaling pathway	11477070
Hgene	PARK7	GO:0070301	cellular response to hydrogen peroxide	14749723
Hgene	PARK7	GO:0106044	guanine deglycation	28596309
Hgene	PARK7	GO:0106045	guanine deglycation, methylglyoxal removal	28596309
Hgene	PARK7	GO:0106046	guanine deglycation, glyoxal removal	28596309
Hgene	PARK7	GO:1900182	positive regulation of protein localization to nucleus	21097510
Hgene	PARK7	GO:1901215	negative regulation of neuron death	22683601
Hgene	PARK7	GO:1901671	positive regulation of superoxide dismutase activity	24567322
Hgene	PARK7	GO:1901984	negative regulation of protein acetylation	22683601
Hgene	PARK7	GO:1903094	negative regulation of protein K48-linked deubiquitination	21097510
Hgene	PARK7	GO:1903168	positive regulation of pyrroline-5-carboxylate reductase activity	23743200
Hgene	PARK7	GO:1903178	positive regulation of tyrosine 3-monooxygenase activity	19703902
Hgene	PARK7	GO:1903181	positive regulation of dopamine biosynthetic process	19703902
Hgene	PARK7	GO:1903189	glyoxal metabolic process	22523093
Hgene	PARK7	GO:1903200	positive regulation of L-dopa decarboxylase activity	19703902
Hgene	PARK7	GO:1903202	negative regulation of oxidative stress-induced cell death	16632486
Hgene	PARK7	GO:1903208	negative regulation of hydrogen peroxide-induced neuron death	15983381\|24947010
Hgene	PARK7	GO:1903377	negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	15790595
Hgene	PARK7	GO:1905259	negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway	14752510
Hgene	PARK7	GO:2000157	negative regulation of ubiquitin-specific protease activity	21097510

Fusion gene breakpoints across PARK7 (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 GNB1 (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	GBM	TCGA-32-2632-01A	PARK7	chr1	8022935	+	GNB1	chr1	1749314	-

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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)
ENST00000338639	PARK7	chr1	8022935	+	ENST00000378609	GNB1	chr1	1749314	-	2983	244	154	1209	351
ENST00000493678	PARK7	chr1	8022935	+	ENST00000378609	GNB1	chr1	1749314	-	2896	157	67	1122	351
ENST00000377493	PARK7	chr1	8022935	+	ENST00000378609	GNB1	chr1	1749314	-	2887	148	58	1113	351
ENST00000377491	PARK7	chr1	8022935	+	ENST00000378609	GNB1	chr1	1749314	-	3040	301	211	1266	351
ENST00000377488	PARK7	chr1	8022935	+	ENST00000378609	GNB1	chr1	1749314	-	2985	246	156	1211	351

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
ENST00000338639	ENST00000378609	PARK7	chr1	8022935	+	GNB1	chr1	1749314	-	0.00240096	0.99759907
ENST00000493678	ENST00000378609	PARK7	chr1	8022935	+	GNB1	chr1	1749314	-	0.002502461	0.9974975
ENST00000377493	ENST00000378609	PARK7	chr1	8022935	+	GNB1	chr1	1749314	-	0.002410559	0.99758947
ENST00000377491	ENST00000378609	PARK7	chr1	8022935	+	GNB1	chr1	1749314	-	0.002751223	0.9972487
ENST00000377488	ENST00000378609	PARK7	chr1	8022935	+	GNB1	chr1	1749314	-	0.002567251	0.99743277

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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

>62768_62768_1_PARK7-GNB1_PARK7_chr1_8022935_ENST00000338639_GNB1_chr1_1749314_ENST00000378609_length(amino acids)=351AA_BP=30
MASKRALVILAKGAEEMETVIPVDVMRRAGDARKACADATLSQITNNIDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKL
IIWDSYTTNKVHAIPLRSSWVMTCAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELAGHTGYLSCCRFLDDNQIVTSSGDTTCALW
DIETGQQTTTFTGHTGDVMSLSLAPDTRLFVSGACDASAKLWDVREGMCRQTFTGHESDINAICFFPNGNAFATGSDDATCRLFDLRADQ

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

>62768_62768_2_PARK7-GNB1_PARK7_chr1_8022935_ENST00000377488_GNB1_chr1_1749314_ENST00000378609_length(amino acids)=351AA_BP=30
MASKRALVILAKGAEEMETVIPVDVMRRAGDARKACADATLSQITNNIDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKL
IIWDSYTTNKVHAIPLRSSWVMTCAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELAGHTGYLSCCRFLDDNQIVTSSGDTTCALW
DIETGQQTTTFTGHTGDVMSLSLAPDTRLFVSGACDASAKLWDVREGMCRQTFTGHESDINAICFFPNGNAFATGSDDATCRLFDLRADQ

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

>62768_62768_3_PARK7-GNB1_PARK7_chr1_8022935_ENST00000377491_GNB1_chr1_1749314_ENST00000378609_length(amino acids)=351AA_BP=30
MASKRALVILAKGAEEMETVIPVDVMRRAGDARKACADATLSQITNNIDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKL
IIWDSYTTNKVHAIPLRSSWVMTCAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELAGHTGYLSCCRFLDDNQIVTSSGDTTCALW
DIETGQQTTTFTGHTGDVMSLSLAPDTRLFVSGACDASAKLWDVREGMCRQTFTGHESDINAICFFPNGNAFATGSDDATCRLFDLRADQ

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

>62768_62768_4_PARK7-GNB1_PARK7_chr1_8022935_ENST00000377493_GNB1_chr1_1749314_ENST00000378609_length(amino acids)=351AA_BP=30
MASKRALVILAKGAEEMETVIPVDVMRRAGDARKACADATLSQITNNIDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKL
IIWDSYTTNKVHAIPLRSSWVMTCAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELAGHTGYLSCCRFLDDNQIVTSSGDTTCALW
DIETGQQTTTFTGHTGDVMSLSLAPDTRLFVSGACDASAKLWDVREGMCRQTFTGHESDINAICFFPNGNAFATGSDDATCRLFDLRADQ

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

>62768_62768_5_PARK7-GNB1_PARK7_chr1_8022935_ENST00000493678_GNB1_chr1_1749314_ENST00000378609_length(amino acids)=351AA_BP=30
MASKRALVILAKGAEEMETVIPVDVMRRAGDARKACADATLSQITNNIDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKL
IIWDSYTTNKVHAIPLRSSWVMTCAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELAGHTGYLSCCRFLDDNQIVTSSGDTTCALW
DIETGQQTTTFTGHTGDVMSLSLAPDTRLFVSGACDASAKLWDVREGMCRQTFTGHESDINAICFFPNGNAFATGSDDATCRLFDLRADQ

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

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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/chr1:8022935/chr1:1749314)
- 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
.	GNB1 Q9BYB4
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

GNB1

chr1:8022935

chr1:1749314

ENST00000378609

141_170

19.0

872.3333333333334

Repeat

Note=WD 3

Tgene

GNB1

chr1:8022935

chr1:1749314

ENST00000378609

182_212

19.0

872.3333333333334

Repeat

Note=WD 4

Tgene

GNB1

chr1:8022935

chr1:1749314

ENST00000378609

224_254

19.0

872.3333333333334

Repeat

Note=WD 5

Tgene

GNB1

chr1:8022935

chr1:1749314

ENST00000378609

268_298

19.0

872.3333333333334

Repeat

Note=WD 6

Tgene

GNB1

chr1:8022935

chr1:1749314

ENST00000378609

310_340

19.0

872.3333333333334

Repeat

Note=WD 7

Tgene

GNB1

chr1:8022935

chr1:1749314

ENST00000378609

53_83

19.0

872.3333333333334

Repeat

Note=WD 1

Tgene

GNB1

chr1:8022935

chr1:1749314

ENST00000378609

95_125

19.0

872.3333333333334

Repeat

Note=WD 2

- 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

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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
PARK7
GNB1

- 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 PARK7-GNB1

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 PARK7-GNB1

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