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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-FAIM (FusionGDB2 ID:23020)

Fusion Gene Summary for DLG1-FAIM

check button Fusion gene summary
Fusion gene informationFusion gene name: DLG1-FAIM
Fusion gene ID: 23020
HgeneTgene
Gene symbol

DLG1

FAIM

Gene ID

1739

55179

Gene namediscs large MAGUK scaffold protein 1Fas apoptotic inhibitory molecule
SynonymsDLGH1|SAP-97|SAP97|hdlgFAIM1
Cytomap

3q29

3q22.3

Type of geneprotein-codingprotein-coding
Descriptiondisks large homolog 1dJ1061C18.1.1discs large homolog 1, scribble cell polarity complex componentpresynaptic protein SAP97synapse-associated protein 97fas apoptotic inhibitory molecule 1
Modification date2020032720200313
UniProtAcc.

Q9BWQ8

Ensembl transtripts involved in fusion geneENST00000357674, ENST00000314062, 
ENST00000346964, ENST00000419354, 
ENST00000452595, ENST00000422288, 
ENST00000448528, ENST00000443183, 
ENST00000450955, ENST00000392382, 
ENST00000485409, 		ENST00000338446, 
ENST00000360570, ENST00000393035, 
ENST00000393034, ENST00000464668, 
Fusion gene scores* DoF score27 X 18 X 14=68044 X 3 X 4=48
# samples 404
** MAII scorelog2(40/6804*10)=-4.08831123588866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointDLG1(196921296)-FAIM(138340249), # samples:2
Anticipated loss of major functional domain due to fusion event.DLG1-FAIM seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
DLG1-FAIM seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DLG1-FAIM 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
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


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 FAIM (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-A8BH-01ADLG1chr3

196921296

-FAIMchr3

138340249

+
ChimerDB4SARCTCGA-DX-A8BH-01ADLG1chr3

196921296

-FAIMchr3

138340249

+


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Fusion Gene ORF analysis for DLG1-FAIM

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-shiftENST00000357674ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000357674ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000357674ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000357674ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000357674ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000314062ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000314062ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000314062ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000314062ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000314062ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000346964ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000346964ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000346964ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000346964ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000346964ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000419354ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000419354ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000419354ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000419354ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000419354ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-3CDSENST00000452595ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-3CDSENST00000452595ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-5UTRENST00000452595ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-5UTRENST00000452595ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-5UTRENST00000452595ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000422288ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000422288ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000422288ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000422288ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000422288ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000448528ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000448528ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000448528ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000448528ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000448528ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-3CDSENST00000443183ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-3CDSENST00000443183ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-5UTRENST00000443183ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-5UTRENST00000443183ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-5UTRENST00000443183ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000450955ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000450955ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000450955ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000450955ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000450955ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000392382ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
Frame-shiftENST00000392382ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000392382ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000392382ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
5CDS-5UTRENST00000392382ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-3CDSENST00000485409ENST00000338446DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-3CDSENST00000485409ENST00000360570DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-5UTRENST00000485409ENST00000393035DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-5UTRENST00000485409ENST00000393034DLG1chr3

196921296

-FAIMchr3

138340249

+
intron-5UTRENST00000485409ENST00000464668DLG1chr3

196921296

-FAIMchr3

138340249

+

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-FAIM


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)
DLG1chr3196921295-FAIMchr3138340248+0.0002510480.999749
DLG1chr3196921295-FAIMchr3138340248+0.0002510480.999749

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-FAIM


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
.FAIM

Q9BWQ8

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: Antiapoptotic protein which protects cells uniquely from Fas-induced apoptosis. Regulates Fas-mediated apoptosis in neurons by interfering with caspase-8 activation. May play a role in cerebellar development by affecting cerebellar size, internal granular layer (IGL) thickness, and Purkinje cell (PC) development. {ECO:0000269|PubMed:10535980, ECO:0000269|PubMed:17635665}.

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-FAIM


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-FAIM


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-FAIM


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 DLG1-FAIM


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