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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:EMC4-PARK7

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EMC4-PARK7
FusionPDB ID: 26380
FusionGDB2.0 ID: 26380
HgeneTgene
Gene symbol

EMC4

PARK7

Gene ID

51234

11315

Gene nameER membrane protein complex subunit 4Parkinsonism associated deglycase
SynonymsPIG17|TMEM85DJ-1|DJ1|GATD2|HEL-S-67p
Cytomap

15q14

1p36.23

Type of geneprotein-codingprotein-coding
DescriptionER membrane protein complex subunit 4cell proliferation-inducing gene 17 proteintransmembrane protein 85protein/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
Modification date2020031320200327
UniProtAcc

Q5J8M3

.
Ensembl transtripts involved in fusion geneENST idsENST00000249209, ENST00000267750, 
ENST00000557879, ENST00000559078, 
ENST00000559421, 
ENST00000497113, 
ENST00000338639, ENST00000377488, 
ENST00000377491, ENST00000377493, 
ENST00000493678, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 1 X 1=27 X 6 X 4=168
# samples 27
** MAII scorelog2(2/2*10)=3.32192809488736log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: EMC4 [Title/Abstract] AND PARK7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EMC4(34520047)-PARK7(8037712), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePARK7

GO:0006281

DNA repair

28596309

TgenePARK7

GO:0006517

protein deglycosylation

25416785

TgenePARK7

GO:0006517

protein deglycosylation

27903648

TgenePARK7

GO:0009438

methylglyoxal metabolic process

22523093

TgenePARK7

GO:0009438

methylglyoxal metabolic process

27903648

TgenePARK7

GO:0010629

negative regulation of gene expression

22683601

TgenePARK7

GO:0019249

lactate biosynthetic process

22523093

TgenePARK7

GO:0031334

positive regulation of protein complex assembly

24947010

TgenePARK7

GO:0031397

negative regulation of protein ubiquitination

17015834|24899725

TgenePARK7

GO:0032091

negative regulation of protein binding

11477070|16731528|17015834|24899725

TgenePARK7

GO:0032435

negative regulation of proteasomal ubiquitin-dependent protein catabolic process

17015834

TgenePARK7

GO:0032757

positive regulation of interleukin-8 production

21097510

TgenePARK7

GO:0033234

negative regulation of protein sumoylation

16731528

TgenePARK7

GO:0034599

cellular response to oxidative stress

15983381|19703902|20969476|22683601

TgenePARK7

GO:0036471

cellular response to glyoxal

22523093

TgenePARK7

GO:0036526

peptidyl-cysteine deglycation

25416785

TgenePARK7

GO:0036527

peptidyl-arginine deglycation

25416785

TgenePARK7

GO:0036528

peptidyl-lysine deglycation

25416785

TgenePARK7

GO:0036529

protein deglycation, glyoxal removal

25416785

TgenePARK7

GO:0036530

protein deglycation, methylglyoxal removal

25416785

TgenePARK7

GO:0036530

protein deglycation, methylglyoxal removal

27903648

TgenePARK7

GO:0036531

glutathione deglycation

25416785

TgenePARK7

GO:0042743

hydrogen peroxide metabolic process

20969476|24567322

TgenePARK7

GO:0043066

negative regulation of apoptotic process

22523093

TgenePARK7

GO:0043523

regulation of neuron apoptotic process

18711745|20304780

TgenePARK7

GO:0043524

negative regulation of neuron apoptotic process

22511790

TgenePARK7

GO:0045944

positive regulation of transcription by RNA polymerase II

21097510

TgenePARK7

GO:0046295

glycolate biosynthetic process

22523093

TgenePARK7

GO:0050821

protein stabilization

24947010

TgenePARK7

GO:0051444

negative regulation of ubiquitin-protein transferase activity

24899725

TgenePARK7

GO:0060548

negative regulation of cell death

14749723

TgenePARK7

GO:0060765

regulation of androgen receptor signaling pathway

11477070

TgenePARK7

GO:0070301

cellular response to hydrogen peroxide

14749723

TgenePARK7

GO:0106044

guanine deglycation

28596309

TgenePARK7

GO:0106045

guanine deglycation, methylglyoxal removal

28596309

TgenePARK7

GO:0106046

guanine deglycation, glyoxal removal

28596309

TgenePARK7

GO:1900182

positive regulation of protein localization to nucleus

21097510

TgenePARK7

GO:1901215

negative regulation of neuron death

22683601

TgenePARK7

GO:1901671

positive regulation of superoxide dismutase activity

24567322

TgenePARK7

GO:1901984

negative regulation of protein acetylation

22683601

TgenePARK7

GO:1903094

negative regulation of protein K48-linked deubiquitination

21097510

TgenePARK7

GO:1903168

positive regulation of pyrroline-5-carboxylate reductase activity

23743200

TgenePARK7

GO:1903178

positive regulation of tyrosine 3-monooxygenase activity

19703902

TgenePARK7

GO:1903181

positive regulation of dopamine biosynthetic process

19703902

TgenePARK7

GO:1903189

glyoxal metabolic process

22523093

TgenePARK7

GO:1903200

positive regulation of L-dopa decarboxylase activity

19703902

TgenePARK7

GO:1903202

negative regulation of oxidative stress-induced cell death

16632486

TgenePARK7

GO:1903208

negative regulation of hydrogen peroxide-induced neuron death

15983381|24947010

TgenePARK7

GO:1903377

negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway

15790595

TgenePARK7

GO:1905259

negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway

14752510

TgenePARK7

GO:2000157

negative regulation of ubiquitin-specific protease activity

21097510


check buttonFusion gene breakpoints across EMC4 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PARK7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-HU-A4GN-01AEMC4chr15

34520047

+PARK7chr1

8037712

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000267750EMC4chr1534520047+ENST00000338639PARK7chr18037712+944471116718200
ENST00000267750EMC4chr1534520047+ENST00000493678PARK7chr18037712+1170471116718200
ENST00000267750EMC4chr1534520047+ENST00000377493PARK7chr18037712+946471116718200
ENST00000267750EMC4chr1534520047+ENST00000377491PARK7chr18037712+915471116718200
ENST00000267750EMC4chr1534520047+ENST00000377488PARK7chr18037712+776471116718200
ENST00000249209EMC4chr1534520047+ENST00000338639PARK7chr18037712+930457102704200
ENST00000249209EMC4chr1534520047+ENST00000493678PARK7chr18037712+1156457102704200
ENST00000249209EMC4chr1534520047+ENST00000377493PARK7chr18037712+932457102704200
ENST00000249209EMC4chr1534520047+ENST00000377491PARK7chr18037712+901457102704200
ENST00000249209EMC4chr1534520047+ENST00000377488PARK7chr18037712+762457102704200

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000267750ENST00000338639EMC4chr1534520047+PARK7chr18037712+0.0065765530.99342346
ENST00000267750ENST00000493678EMC4chr1534520047+PARK7chr18037712+0.0047737570.99522626
ENST00000267750ENST00000377493EMC4chr1534520047+PARK7chr18037712+0.0065962240.99340373
ENST00000267750ENST00000377491EMC4chr1534520047+PARK7chr18037712+0.0066481630.9933518
ENST00000267750ENST00000377488EMC4chr1534520047+PARK7chr18037712+0.0094313580.9905687
ENST00000249209ENST00000338639EMC4chr1534520047+PARK7chr18037712+0.0076065110.9923935
ENST00000249209ENST00000493678EMC4chr1534520047+PARK7chr18037712+0.0054410650.9945589
ENST00000249209ENST00000377493EMC4chr1534520047+PARK7chr18037712+0.0077458920.99225414
ENST00000249209ENST00000377491EMC4chr1534520047+PARK7chr18037712+0.0074512610.9925487
ENST00000249209ENST00000377488EMC4chr1534520047+PARK7chr18037712+0.0108313140.98916864

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Fusion Amino Acid Sequences


check button 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

>26380_26380_1_EMC4-PARK7_EMC4_chr15_34520047_ENST00000249209_PARK7_chr1_8037712_ENST00000338639_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

>26380_26380_2_EMC4-PARK7_EMC4_chr15_34520047_ENST00000249209_PARK7_chr1_8037712_ENST00000377488_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

>26380_26380_3_EMC4-PARK7_EMC4_chr15_34520047_ENST00000249209_PARK7_chr1_8037712_ENST00000377491_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

>26380_26380_4_EMC4-PARK7_EMC4_chr15_34520047_ENST00000249209_PARK7_chr1_8037712_ENST00000377493_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

>26380_26380_5_EMC4-PARK7_EMC4_chr15_34520047_ENST00000249209_PARK7_chr1_8037712_ENST00000493678_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

>26380_26380_6_EMC4-PARK7_EMC4_chr15_34520047_ENST00000267750_PARK7_chr1_8037712_ENST00000338639_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

>26380_26380_7_EMC4-PARK7_EMC4_chr15_34520047_ENST00000267750_PARK7_chr1_8037712_ENST00000377488_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

>26380_26380_8_EMC4-PARK7_EMC4_chr15_34520047_ENST00000267750_PARK7_chr1_8037712_ENST00000377491_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

>26380_26380_9_EMC4-PARK7_EMC4_chr15_34520047_ENST00000267750_PARK7_chr1_8037712_ENST00000377493_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

>26380_26380_10_EMC4-PARK7_EMC4_chr15_34520047_ENST00000267750_PARK7_chr1_8037712_ENST00000493678_length(amino acids)=200AA_BP=119
MTAQGGLVANRGRRFKWAIELSGPGGGSRGRSDRGSGQGDSLYPVGYLDKQVPDTSVQETDRILVEKRCWDIALGPLKQIPMNLFIMYMA
GNTISIFPTMMVCMMAWRPIQALMAISASPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIV

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

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:34520047/chr1:8037712)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EMC4

Q5J8M3

.
FUNCTION: Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:30415835, PubMed:29809151, PubMed:29242231, PubMed:32459176, PubMed:32439656). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:30415835, PubMed:29809151, PubMed:29242231). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:30415835, PubMed:29809151). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29809151, PubMed:29242231). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable). {ECO:0000269|PubMed:29242231, ECO:0000269|PubMed:29809151, ECO:0000269|PubMed:30415835, ECO:0000269|PubMed:32439656, ECO:0000269|PubMed:32459176, ECO:0000305|PubMed:18586032}.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.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEMC4chr15:34520047chr1:8037712ENST00000249209+342_66118.33333333333333150.0Topological domainCytoplasmic
HgeneEMC4chr15:34520047chr1:8037712ENST00000249209+3488_98118.33333333333333150.0Topological domainLumenal
HgeneEMC4chr15:34520047chr1:8037712ENST00000267750+352_66118.33333333333333184.0Topological domainCytoplasmic
HgeneEMC4chr15:34520047chr1:8037712ENST00000267750+3588_98118.33333333333333184.0Topological domainLumenal
HgeneEMC4chr15:34520047chr1:8037712ENST00000249209+3467_87118.33333333333333150.0TransmembraneHelical
HgeneEMC4chr15:34520047chr1:8037712ENST00000249209+3499_120118.33333333333333150.0TransmembraneHelical
HgeneEMC4chr15:34520047chr1:8037712ENST00000267750+3567_87118.33333333333333184.0TransmembraneHelical
HgeneEMC4chr15:34520047chr1:8037712ENST00000267750+3599_120118.33333333333333184.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEMC4chr15:34520047chr1:8037712ENST00000249209+34121_127118.33333333333333150.0Topological domainCytoplasmic
HgeneEMC4chr15:34520047chr1:8037712ENST00000249209+34149_183118.33333333333333150.0Topological domainLumenal
HgeneEMC4chr15:34520047chr1:8037712ENST00000267750+35121_127118.33333333333333184.0Topological domainCytoplasmic
HgeneEMC4chr15:34520047chr1:8037712ENST00000267750+35149_183118.33333333333333184.0Topological domainLumenal
HgeneEMC4chr15:34520047chr1:8037712ENST00000249209+34128_148118.33333333333333150.0TransmembraneHelical
HgeneEMC4chr15:34520047chr1:8037712ENST00000267750+35128_148118.33333333333333184.0TransmembraneHelical


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
EMC4
PARK7


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to EMC4-PARK7


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

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Related Diseases to EMC4-PARK7


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

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource