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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10585

FusionGeneSummary for DSE_PLEKHG1

check button Fusion gene summary
Fusion gene informationFusion gene name: DSE_PLEKHG1
Fusion gene ID: 10585
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 date2018051920180519
UniProtAcc

Q9UL01

Q9ULL1

Ensembl transtripts involved in fusion geneENST00000540275, ENST00000452085, 
ENST00000537543, ENST00000331677, 
ENST00000359564, ENST00000606265, 
ENST00000367328, ENST00000358517, 
Fusion gene scores* DoF score5 X 7 X 3=1057 X 8 X 4=224
# samples 68
** MAII scorelog2(6/105*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/224*10)=-1.48542682717024
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSARCTCGA-DX-A1KZ-01ADSEchr6

116720829

+PLEKHG1chr6

151130241

+
TCGALDSARCTCGA-DX-A1KZ-01ADSEchr6

116720825

+PLEKHG1chr6

151130241

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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

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

+
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

+

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FusionProtFeatures for DSE_PLEKHG1


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

Q9UL01

PLEKHG1

Q9ULL1

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

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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FusionGeneSequence for DSE_PLEKHG1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
DSECPSF3L, ACSL4, HLA-DPA1, NRG1, SYNE4, PICK1, MGAT4C, CD79B, CHRNA3, HTR3APLEKHG1ANKRD28, LATS2, SSX2IP, OFD1, CEP162, CEP128, CEP135, CEP89, NINL, ODF2, RPGRIP1L, LLGL2, MYH13, CHST15, TUBGCP5


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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RelatedDrugs for DSE_PLEKHG1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DSE_PLEKHG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDSEC3809845EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 21UNIPROT
TgenePLEKHG1C0040336Tobacco Use Disorder1CTD_human