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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:MRPS18C-DLG1 (FusionGDB2 ID:55149)

Fusion Gene Summary for MRPS18C-DLG1

check button Fusion gene summary
Fusion gene informationFusion gene name: MRPS18C-DLG1
Fusion gene ID: 55149
HgeneTgene
Gene symbol

MRPS18C

DLG1

Gene ID

51023

1739

Gene namemitochondrial ribosomal protein S18Cdiscs large MAGUK scaffold protein 1
SynonymsCGI-134|MRP-S18-1|MRP-S18-c|MRPS18-1|S18mt-c|mrps18-cDLGH1|SAP-97|SAP97|hdlg
Cytomap

4q21.23

3q29

Type of geneprotein-codingprotein-coding
Description28S ribosomal protein S18c, mitochondrial28S ribosomal protein S18-1, mitochondrialmitochondrial ribosomal protein S18-1mitochondrial small ribosomal subunit protein bS18cmitochondrial small ribosomal subunit protein bS18mmitochondrial small ribosomadisks large homolog 1dJ1061C18.1.1discs large homolog 1, scribble cell polarity complex componentpresynaptic protein SAP97synapse-associated protein 97
Modification date2020031320200327
UniProtAcc

Q9Y3D5

Q12959

Ensembl transtripts involved in fusion geneENST00000295491, ENST00000507019, 
ENST00000507349, ENST00000509571, 
ENST00000485409, ENST00000314062, 
ENST00000346964, ENST00000357674, 
ENST00000392382, ENST00000419354, 
ENST00000422288, ENST00000443183, 
ENST00000448528, ENST00000450955, 
ENST00000452595, 
Fusion gene scores* DoF score3 X 3 X 3=2714 X 15 X 6=1260
# samples 416
** MAII scorelog2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(16/1260*10)=-2.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MRPS18C [Title/Abstract] AND DLG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMRPS18C(84378111)-DLG1(196796131), # samples:1
Anticipated loss of major functional domain due to fusion event.MRPS18C-DLG1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MRPS18C-DLG1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
MRPS18C-DLG1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneDLG1

GO:0001935

endothelial cell proliferation

14699157

TgeneDLG1

GO:0007015

actin filament organization

14699157

TgeneDLG1

GO:0030866

cortical actin cytoskeleton organization

14699157

TgeneDLG1

GO:0042391

regulation of membrane potential

12970345

TgeneDLG1

GO:0043268

positive regulation of potassium ion transport

12970345

TgeneDLG1

GO:0070830

bicellular tight junction assembly

17332497

TgeneDLG1

GO:0098609

cell-cell adhesion

14699157

TgeneDLG1

GO:1902473

regulation of protein localization to synapse

23676497

TgeneDLG1

GO:1903078

positive regulation of protein localization to plasma membrane

12970345


check buttonFusion gene breakpoints across MRPS18C (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 DLG1 (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-28-5209-01AMRPS18Cchr4

84378111

+DLG1chr3

196796131

-


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Fusion Gene ORF analysis for MRPS18C-DLG1

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
5CDS-intronENST00000295491ENST00000485409MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
5CDS-intronENST00000507019ENST00000485409MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
5CDS-intronENST00000507349ENST00000485409MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000314062MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000346964MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000357674MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000392382MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000419354MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000422288MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000443183MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000448528MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000450955MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000295491ENST00000452595MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000314062MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000346964MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000357674MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000392382MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000419354MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000422288MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000443183MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000448528MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000450955MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507019ENST00000452595MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000314062MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000346964MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000357674MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000392382MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000419354MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000422288MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000443183MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000448528MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000450955MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
Frame-shiftENST00000507349ENST00000452595MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000314062MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000346964MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000357674MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000392382MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000419354MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000422288MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000443183MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000448528MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000450955MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-3CDSENST00000509571ENST00000452595MRPS18Cchr4

84378111

+DLG1chr3

196796131

-
intron-intronENST00000509571ENST00000485409MRPS18Cchr4

84378111

+DLG1chr3

196796131

-

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 MRPS18C-DLG1


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 MRPS18C-DLG1


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/:84378111/:196796131)
- 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
MRPS18C

Q9Y3D5

DLG1

Q12959

FUNCTION: Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497). {ECO:0000250, ECO:0000269|PubMed:10656683, ECO:0000269|PubMed:12445884, ECO:0000269|PubMed:14699157, ECO:0000269|PubMed:15263016, ECO:0000269|PubMed:19213956, ECO:0000269|PubMed:20605917, ECO:0000269|PubMed:23676497}.

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 MRPS18C-DLG1


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 MRPS18C-DLG1


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 MRPS18C-DLG1


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 MRPS18C-DLG1


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