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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:DLG3-MED12 (FusionGDB2 ID:23065)

Fusion Gene Summary for DLG3-MED12

check button Fusion gene summary
Fusion gene informationFusion gene name: DLG3-MED12
Fusion gene ID: 23065
HgeneTgene
Gene symbol

DLG3

MED12

Gene ID

4356

9968

Gene namemembrane palmitoylated protein 3mediator complex subunit 12
SynonymsDLG3ARC240|CAGH45|FGS1|HOPA|Kto|MED12S|OHDOX|OKS|OPA1|TNRC11|TRAP230
Cytomap

17q21.31

Xq13.1

Type of geneprotein-codingprotein-coding
DescriptionMAGUK p55 subfamily member 3discs, large homolog 3membrane protein palmitoylated 3membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)mediator of RNA polymerase II transcription subunit 12CAG repeat protein 45Kohtalo homologOPA-containing proteinactivator-recruited cofactor 240 kDa componenthuman opposite pairedmediator of RNA polymerase II transcription, subunit 12 homologputati
Modification date2020031320200321
UniProtAcc

Q92796

Q86YW9

Ensembl transtripts involved in fusion geneENST00000194900, ENST00000374360, 
ENST00000374355, ENST00000542398, 
ENST00000461646, 		ENST00000333646, 
ENST00000374102, ENST00000374080, 
ENST00000462984, 
Fusion gene scores* DoF score4 X 4 X 3=486 X 7 X 3=126
# samples 57
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DLG3 [Title/Abstract] AND MED12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDLG3(69674166)-MED12(70347743), # samples:1
Anticipated loss of major functional domain due to fusion event.DLG3-MED12 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DLG3-MED12 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
DLG3-MED12 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
DLG3-MED12 seems lost the major protein functional domain in Tgene partner, which is a essential 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
TgeneMED12

GO:0006367

transcription initiation from RNA polymerase II promoter

12218053

TgeneMED12

GO:0045893

positive regulation of transcription, DNA-templated

10198638

TgeneMED12

GO:0045944

positive regulation of transcription by RNA polymerase II

12037571


check buttonFusion gene breakpoints across DLG3 (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 MED12 (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
ChimerDB4BLCATCGA-ZF-AA51-01ADLG3chrX

69674166

+MED12chrX

70347743

+


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Fusion Gene ORF analysis for DLG3-MED12

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-shiftENST00000194900ENST00000333646DLG3chrX

69674166

+MED12chrX

70347743

+
Frame-shiftENST00000194900ENST00000374102DLG3chrX

69674166

+MED12chrX

70347743

+
Frame-shiftENST00000194900ENST00000374080DLG3chrX

69674166

+MED12chrX

70347743

+
5CDS-intronENST00000194900ENST00000462984DLG3chrX

69674166

+MED12chrX

70347743

+
Frame-shiftENST00000374360ENST00000333646DLG3chrX

69674166

+MED12chrX

70347743

+
Frame-shiftENST00000374360ENST00000374102DLG3chrX

69674166

+MED12chrX

70347743

+
Frame-shiftENST00000374360ENST00000374080DLG3chrX

69674166

+MED12chrX

70347743

+
5CDS-intronENST00000374360ENST00000462984DLG3chrX

69674166

+MED12chrX

70347743

+
Frame-shiftENST00000374355ENST00000333646DLG3chrX

69674166

+MED12chrX

70347743

+
Frame-shiftENST00000374355ENST00000374102DLG3chrX

69674166

+MED12chrX

70347743

+
Frame-shiftENST00000374355ENST00000374080DLG3chrX

69674166

+MED12chrX

70347743

+
5CDS-intronENST00000374355ENST00000462984DLG3chrX

69674166

+MED12chrX

70347743

+
intron-3CDSENST00000542398ENST00000333646DLG3chrX

69674166

+MED12chrX

70347743

+
intron-3CDSENST00000542398ENST00000374102DLG3chrX

69674166

+MED12chrX

70347743

+
intron-3CDSENST00000542398ENST00000374080DLG3chrX

69674166

+MED12chrX

70347743

+
intron-intronENST00000542398ENST00000462984DLG3chrX

69674166

+MED12chrX

70347743

+
intron-3CDSENST00000461646ENST00000333646DLG3chrX

69674166

+MED12chrX

70347743

+
intron-3CDSENST00000461646ENST00000374102DLG3chrX

69674166

+MED12chrX

70347743

+
intron-3CDSENST00000461646ENST00000374080DLG3chrX

69674166

+MED12chrX

70347743

+
intron-intronENST00000461646ENST00000462984DLG3chrX

69674166

+MED12chrX

70347743

+

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 DLG3-MED12


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)
DLG3chrX69674166+MED12chrX70347742+0.0056003540.9943996
DLG3chrX69674166+MED12chrX70347742+0.0056003540.9943996

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 DLG3-MED12


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
DLG3

Q92796

MED12

Q86YW9

FUNCTION: Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.FUNCTION: May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity). {ECO:0000250}.

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 DLG3-MED12


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 DLG3-MED12


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 DLG3-MED12


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 DLG3-MED12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDLG3C3501611Mental Retardation, X-Linked Nonsyndromic7CLINGEN
HgeneDLG3C0036341Schizophrenia5PSYGENET
HgeneDLG3C0005586Bipolar Disorder4PSYGENET
HgeneDLG3C0041696Unipolar Depression3PSYGENET
HgeneDLG3C1269683Major Depressive Disorder3PSYGENET
HgeneDLG3C0525045Mood Disorders2PSYGENET
HgeneDLG3C1136249Mental Retardation, X-Linked1CTD_human
HgeneDLG3C2931498Mental Retardation, X-Linked 11ORPHANET
TgeneMED12C0036341Schizophrenia5PSYGENET
TgeneMED12C0220769FG syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneMED12C0796022Lujan Fryns syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneMED12C0006142Malignant neoplasm of breast2CTD_human
TgeneMED12C0011570Mental Depression2PSYGENET
TgeneMED12C0011581Depressive disorder2PSYGENET
TgeneMED12C0033578Prostatic Neoplasms2CTD_human
TgeneMED12C0206650Fibroadenoma2CTD_human
TgeneMED12C0376358Malignant neoplasm of prostate2CTD_human
TgeneMED12C0678222Breast Carcinoma2CTD_human
TgeneMED12C1257931Mammary Neoplasms, Human2CTD_human
TgeneMED12C1458155Mammary Neoplasms2CTD_human
TgeneMED12C3698541Ohdo syndrome, Maat-Kievit-Brunner type2GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneMED12C4704874Mammary Carcinoma, Human2CTD_human
TgeneMED12C0010701Phyllodes Tumor1CTD_human
TgeneMED12C0019569Hirschsprung Disease1GENOMICS_ENGLAND
TgeneMED12C0033975Psychotic Disorders1PSYGENET
TgeneMED12C0041696Unipolar Depression1PSYGENET
TgeneMED12C0206686Adrenocortical carcinoma1CTD_human
TgeneMED12C0349204Nonorganic psychosis1PSYGENET
TgeneMED12C0600066Malignant Cystosarcoma Phyllodes1CTD_human
TgeneMED12C1269683Major Depressive Disorder1PSYGENET
TgeneMED12C1845546FG SYNDROME 4 (disorder)1CTD_human
TgeneMED12C1845567FG SYNDROME 31CTD_human
TgeneMED12C1845902FG SYNDROME 21CTD_human
TgeneMED12C3495676Anorectal Malformations1GENOMICS_ENGLAND
TgeneMED12C3888239HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 11GENOMICS_ENGLAND
TgeneMED12C4551487Submucous cleft palate1GENOMICS_ENGLAND