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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DLG1-EHHADH (FusionGDB2 ID:23019)

Fusion Gene Summary for DLG1-EHHADH

check button Fusion gene summary
Fusion gene informationFusion gene name: DLG1-EHHADH
Fusion gene ID: 23019
HgeneTgene
Gene symbol

DLG1

EHHADH

Gene ID

1739

1962

Gene namediscs large MAGUK scaffold protein 1enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
SynonymsDLGH1|SAP-97|SAP97|hdlgECHD|FRTS3|L-PBE|LBFP|LBP|PBFE
Cytomap

3q29

3q27.2

Type of geneprotein-codingprotein-coding
Descriptiondisks large homolog 1dJ1061C18.1.1discs large homolog 1, scribble cell polarity complex componentpresynaptic protein SAP97synapse-associated protein 97peroxisomal bifunctional enzyme3,2-trans-enoyl-CoA isomeraseL-3-hydroxyacyl-CoA dehydrogenaseL-bifunctional protein, peroxisomalPBEenoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenaseenoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
Modification date2020032720200327
UniProtAcc.

Q08426

Ensembl transtripts involved in fusion geneENST00000357674, ENST00000314062, 
ENST00000346964, ENST00000419354, 
ENST00000452595, ENST00000422288, 
ENST00000448528, ENST00000443183, 
ENST00000450955, ENST00000392382, 
ENST00000485409, 		ENST00000231887, 
ENST00000456310, ENST00000475987, 
ENST00000440662, 
Fusion gene scores* DoF score27 X 18 X 14=68046 X 4 X 5=120
# samples 407
** MAII scorelog2(40/6804*10)=-4.08831123588866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DLG1 [Title/Abstract] AND EHHADH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDLG1(196863413)-EHHADH(184966305), # samples:2
Anticipated loss of major functional domain due to fusion event.DLG1-EHHADH seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
DLG1-EHHADH seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DLG1-EHHADH seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneDLG1

GO:0001935

endothelial cell proliferation

14699157

HgeneDLG1

GO:0007015

actin filament organization

14699157

HgeneDLG1

GO:0030866

cortical actin cytoskeleton organization

14699157

HgeneDLG1

GO:0042391

regulation of membrane potential

12970345

HgeneDLG1

GO:0043268

positive regulation of potassium ion transport

12970345

HgeneDLG1

GO:0070830

bicellular tight junction assembly

17332497

HgeneDLG1

GO:0098609

cell-cell adhesion

14699157

HgeneDLG1

GO:1902473

regulation of protein localization to synapse

23676497

HgeneDLG1

GO:1903078

positive regulation of protein localization to plasma membrane

12970345

TgeneEHHADH

GO:0006475

internal protein amino acid acetylation

20167786


check buttonFusion gene breakpoints across DLG1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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
ChimerDB4GBMTCGA-27-2523-01ADLG1chr3

196863413

-EHHADHchr3

184966305

-
ChimerDB4GBMTCGA-27-2523DLG1chr3

196863412

-EHHADHchr3

184966305

-
ChimerDB4GBMTCGA-27-2523-01ADLG1chr3

196863413

-EHHADHchr3

184966305

-


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Fusion Gene ORF analysis for DLG1-EHHADH

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000357674ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000357674ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000357674ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000357674ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000314062ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000314062ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000314062ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000314062ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000346964ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000346964ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000346964ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000346964ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000419354ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000419354ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000419354ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000419354ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000452595ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000452595ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000452595ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000452595ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000422288ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000422288ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000422288ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000422288ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000448528ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000448528ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000448528ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000448528ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000443183ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000443183ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000443183ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000443183ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000450955ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000450955ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000450955ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000450955ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000392382ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000392382ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000392382ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000392382ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
intron-3CDSENST00000485409ENST00000231887DLG1chr3

196863413

-EHHADHchr3

184966305

-
intron-5UTRENST00000485409ENST00000456310DLG1chr3

196863413

-EHHADHchr3

184966305

-
intron-5UTRENST00000485409ENST00000475987DLG1chr3

196863413

-EHHADHchr3

184966305

-
intron-5UTRENST00000485409ENST00000440662DLG1chr3

196863413

-EHHADHchr3

184966305

-
Frame-shiftENST00000357674ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000357674ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000357674ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000357674ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
Frame-shiftENST00000314062ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000314062ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000314062ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000314062ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
Frame-shiftENST00000346964ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000346964ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000346964ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000346964ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
Frame-shiftENST00000419354ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000419354ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000419354ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000419354ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
Frame-shiftENST00000452595ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000452595ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000452595ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000452595ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
Frame-shiftENST00000422288ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000422288ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000422288ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000422288ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
Frame-shiftENST00000448528ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000448528ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000448528ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000448528ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
Frame-shiftENST00000443183ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000443183ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000443183ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000443183ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
Frame-shiftENST00000450955ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000450955ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000450955ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000450955ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
Frame-shiftENST00000392382ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000392382ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000392382ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
5CDS-5UTRENST00000392382ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-
intron-3CDSENST00000485409ENST00000231887DLG1chr3

196863412

-EHHADHchr3

184966305

-
intron-5UTRENST00000485409ENST00000456310DLG1chr3

196863412

-EHHADHchr3

184966305

-
intron-5UTRENST00000485409ENST00000475987DLG1chr3

196863412

-EHHADHchr3

184966305

-
intron-5UTRENST00000485409ENST00000440662DLG1chr3

196863412

-EHHADHchr3

184966305

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for DLG1-EHHADH


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for DLG1-EHHADH


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q08426

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: Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities. Catalyzes two of the four reactions of the long straight chain fatty acids peroxisomal beta-oxidation pathway. Optimal isomerase for 2,5 double bonds into 3,5 form isomerization in a range of enoyl-CoA species (Probable). Also able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species (By similarity). With HSD17B4, catalyzes the hydration of trans-2-enoyl-CoA and the dehydrogenation of 3-hydroxyacyl-CoA, but with opposite chiral specificity (PubMed:15060085). Regulates the amount of medium-chain dicarboxylic fatty acids which are essential regulators of all fatty acid oxidation pathways (By similarity). Also involved in the degradation of long-chain dicarboxylic acids through peroxisomal beta-oxidation (PubMed:15060085). {ECO:0000250|UniProtKB:P07896, ECO:0000250|UniProtKB:Q9DBM2, ECO:0000269|PubMed:15060085, ECO:0000305|PubMed:15060085}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for DLG1-EHHADH


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DLG1-EHHADH


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for DLG1-EHHADH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEHHADHQ08426DB00157NADHSmall moleculeApproved|Nutraceutical
TgeneEHHADHQ08426DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for DLG1-EHHADH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDLG1C0036341Schizophrenia3CTD_human
HgeneDLG1C0008925Cleft Palate1CTD_human
HgeneDLG1C0158646Cleft palate with cleft lip1ORPHANET
HgeneDLG1C1837218Cleft palate, isolated1CTD_human
TgeneEHHADHC0005586Bipolar Disorder1PSYGENET
TgeneEHHADHC0013146Drug abuse1CTD_human
TgeneEHHADHC0013170Drug habituation1CTD_human
TgeneEHHADHC0013222Drug Use Disorders1CTD_human
TgeneEHHADHC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneEHHADHC0033578Prostatic Neoplasms1CTD_human
TgeneEHHADHC0038580Substance Dependence1CTD_human
TgeneEHHADHC0038586Substance Use Disorders1CTD_human
TgeneEHHADHC0236969Substance-Related Disorders1CTD_human
TgeneEHHADHC0341703Adult Fanconi syndrome1CTD_human;ORPHANET
TgeneEHHADHC0342870Bifunctional peroxisomal enzyme deficiency1ORPHANET
TgeneEHHADHC0376358Malignant neoplasm of prostate1CTD_human
TgeneEHHADHC0740858Substance abuse problem1CTD_human
TgeneEHHADHC1510472Drug Dependence1CTD_human
TgeneEHHADHC3810100FANCONI RENOTUBULAR SYNDROME 31GENOMICS_ENGLAND;UNIPROT
TgeneEHHADHC4316881Prescription Drug Abuse1CTD_human
TgeneEHHADHC4551503FANCONI RENOTUBULAR SYNDROME 11ORPHANET