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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:DSE-PLEKHG1 (FusionGDB2 ID:24214)

Fusion Gene Summary for DSE-PLEKHG1

check button Fusion gene summary
Fusion gene informationFusion gene name: DSE-PLEKHG1
Fusion gene ID: 24214
HgeneTgene
Gene symbol

DSE

PLEKHG1

Gene ID

29940

57480

Gene namedermatan sulfate epimerasepleckstrin homology and RhoGEF domain containing G1
SynonymsDS-epi1|DSEP|DSEPI|EDSMC2|SART-2|SART2ARHGEF41
Cytomap

6q22.1

6q25.1

Type of geneprotein-codingprotein-coding
Descriptiondermatan-sulfate epimeraseDS epimerasechondroitin-glucuronate 5-epimerasesquamous cell carcinoma antigen recognized by T-cells 2pleckstrin homology domain-containing family G member 1pleckstrin homology domain containing, family G (with RhoGef domain) member 1
Modification date2020031320200313
UniProtAcc

Q9UL01

.
Ensembl transtripts involved in fusion geneENST00000540275, ENST00000452085, 
ENST00000537543, ENST00000331677, 
ENST00000359564, ENST00000606265, 
ENST00000367328, ENST00000358517, 
Fusion gene scores* DoF score8 X 6 X 6=28811 X 13 X 5=715
# samples 912
** MAII scorelog2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/715*10)=-2.57490883605723
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DSE [Title/Abstract] AND PLEKHG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDSE(116720825)-PLEKHG1(151130241), # samples:2
DSE(116720829)-PLEKHG1(151130241), # samples:2
PLEKHG1(150921153)-DSE(116747736), # samples:1
Anticipated loss of major functional domain due to fusion event.DSE-PLEKHG1 seems lost the major protein functional domain in Hgene 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
HgeneDSE

GO:0030208

dermatan sulfate biosynthetic process

16505484


check buttonFusion gene breakpoints across DSE (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 PLEKHG1 (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
ChimerDB4SARCTCGA-DX-A1KZ-01ADSEchr6

116720825

+PLEKHG1chr6

151130241

+
ChimerDB4SARCTCGA-RN-AAAQ-01ADSEchr6

116720825

+PLEKHG1chr6

151130241

+
ChimerDB4SARCTCGA-RN-AAAQ-01ADSEchr6

116720829

+PLEKHG1chr6

151130241

+
ChimerDB4SARCTCGA-DX-A1KZ-01ADSEchr6

116720829

-PLEKHG1chr6

151130241

+


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Fusion Gene ORF analysis for DSE-PLEKHG1

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
3UTR-3CDSENST00000540275ENST00000367328DSEchr6

116720825

+PLEKHG1chr6

151130241

+
3UTR-3CDSENST00000540275ENST00000358517DSEchr6

116720825

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000452085ENST00000367328DSEchr6

116720825

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000452085ENST00000358517DSEchr6

116720825

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000537543ENST00000367328DSEchr6

116720825

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000537543ENST00000358517DSEchr6

116720825

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000331677ENST00000367328DSEchr6

116720825

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000331677ENST00000358517DSEchr6

116720825

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000359564ENST00000367328DSEchr6

116720825

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000359564ENST00000358517DSEchr6

116720825

+PLEKHG1chr6

151130241

+
intron-3CDSENST00000606265ENST00000367328DSEchr6

116720825

+PLEKHG1chr6

151130241

+
intron-3CDSENST00000606265ENST00000358517DSEchr6

116720825

+PLEKHG1chr6

151130241

+
3UTR-3CDSENST00000540275ENST00000367328DSEchr6

116720829

+PLEKHG1chr6

151130241

+
3UTR-3CDSENST00000540275ENST00000358517DSEchr6

116720829

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000452085ENST00000367328DSEchr6

116720829

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000452085ENST00000358517DSEchr6

116720829

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000537543ENST00000367328DSEchr6

116720829

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000537543ENST00000358517DSEchr6

116720829

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000331677ENST00000367328DSEchr6

116720829

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000331677ENST00000358517DSEchr6

116720829

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000359564ENST00000367328DSEchr6

116720829

+PLEKHG1chr6

151130241

+
Frame-shiftENST00000359564ENST00000358517DSEchr6

116720829

+PLEKHG1chr6

151130241

+
intron-3CDSENST00000606265ENST00000367328DSEchr6

116720829

+PLEKHG1chr6

151130241

+
intron-3CDSENST00000606265ENST00000358517DSEchr6

116720829

+PLEKHG1chr6

151130241

+

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 DSE-PLEKHG1


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)
DSEchr6116720829+PLEKHG1chr6151130240+3.38E-091
DSEchr6116720829+PLEKHG1chr6151130240+3.38E-091
DSEchr6116720829+PLEKHG1chr6151130240+3.38E-091
DSEchr6116720829+PLEKHG1chr6151130240+3.38E-091

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 DSE-PLEKHG1


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
DSE

Q9UL01

.
FUNCTION: Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. {ECO:0000269|PubMed:16505484}.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.
- 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 DSE-PLEKHG1


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 DSE-PLEKHG1


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 DSE-PLEKHG1


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

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Related Diseases for DSE-PLEKHG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDSEC3809845EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 22CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDSEC1866294EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 11ORPHANET
TgenePLEKHG1C0028043Nicotine Dependence1CTD_human
TgenePLEKHG1C0040332Tobacco Dependence1CTD_human
TgenePLEKHG1C0376384Nicotine Use Disorder1CTD_human