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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:DLG1-CBFA2T2 (FusionGDB2 ID:23033)

Fusion Gene Summary for DLG1-CBFA2T2

Fusion gene summary

Fusion gene information	Fusion gene name: DLG1-CBFA2T2
	Fusion gene ID: 23033
		Hgene	Tgene
	Gene symbol	DLG1	CBFA2T2
	Gene ID	1739	9139
	Gene name	discs large MAGUK scaffold protein 1	CBFA2/RUNX1 partner transcriptional co-repressor 2
	Synonyms	DLGH1\|SAP-97\|SAP97\|hdlg	EHT\|MTGR1\|ZMYND3\|p85
	Cytomap	3q29	20q11.21-q11.22
	Type of gene	protein-coding	protein-coding
	Description	disks large homolog 1dJ1061C18.1.1discs large homolog 1, scribble cell polarity complex componentpresynaptic protein SAP97synapse-associated protein 97	protein CBFA2T2CBFA2/RUNX1 translocation partner 2ETO homolog on chromosome 20ETO homologous on chromosome 20MTG8-like proteinMTG8-related protein 1core-binding factor, runt domain, alpha subunit 2; translocated to, 2myeloid translocation gene-rela
	Modification date	20200327	20200313
	UniProtAcc	.	O43439
	Ensembl transtripts involved in fusion gene	ENST00000314062, ENST00000346964, ENST00000357674, ENST00000392382, ENST00000419354, ENST00000422288, ENST00000448528, ENST00000450955, ENST00000485409, ENST00000443183, ENST00000452595,	ENST00000344201, ENST00000346541, ENST00000359606, ENST00000397798, ENST00000397800, ENST00000491618, ENST00000492345, ENST00000543126, ENST00000342704, ENST00000375279,
Fusion gene scores	* DoF score	27 X 18 X 14=6804	17 X 18 X 9=2754
	# samples	40	25
	** MAII score	log2(40/6804*10)=-4.08831123588866 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(25/2754*10)=-3.46152855947288 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: DLG1 [Title/Abstract] AND CBFA2T2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	DLG1(197009550)-CBFA2T2(32232153), # samples:3
Anticipated loss of major functional domain due to fusion event.	DLG1-CBFA2T2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. DLG1-CBFA2T2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. DLG1-CBFA2T2 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	DLG1	GO:0001935	endothelial cell proliferation	14699157
Hgene	DLG1	GO:0007015	actin filament organization	14699157
Hgene	DLG1	GO:0030866	cortical actin cytoskeleton organization	14699157
Hgene	DLG1	GO:0042391	regulation of membrane potential	12970345
Hgene	DLG1	GO:0043268	positive regulation of potassium ion transport	12970345
Hgene	DLG1	GO:0070830	bicellular tight junction assembly	17332497
Hgene	DLG1	GO:0098609	cell-cell adhesion	14699157
Hgene	DLG1	GO:1902473	regulation of protein localization to synapse	23676497
Hgene	DLG1	GO:1903078	positive regulation of protein localization to plasma membrane	12970345
Tgene	CBFA2T2	GO:0010976	positive regulation of neuron projection development	19026687
Tgene	CBFA2T2	GO:0045892	negative regulation of transcription, DNA-templated	23251453

Fusion 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.

Fusion gene breakpoints across CBFA2T2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	SARC	TCGA-3B-A9HS-01A	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
ChimerDB4	SARC	TCGA-DX-A8BS-01A	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+

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Fusion Gene ORF analysis for DLG1-CBFA2T2

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000314062	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000314062	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000314062	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000314062	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000314062	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000314062	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000314062	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000314062	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000346964	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000346964	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000346964	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000346964	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000346964	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000346964	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000346964	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000346964	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000357674	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000357674	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000357674	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000357674	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000357674	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000357674	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000357674	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000357674	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000392382	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000392382	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000392382	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000392382	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000392382	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000392382	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000392382	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000392382	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000419354	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000419354	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000419354	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000419354	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000419354	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000419354	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000419354	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000419354	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000422288	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000422288	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000422288	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000422288	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000422288	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000422288	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000422288	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000422288	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000448528	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000448528	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000448528	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000448528	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000448528	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000448528	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000448528	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000448528	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000450955	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000450955	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000450955	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000450955	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000450955	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000450955	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000450955	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5CDS-intron	ENST00000450955	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-3CDS	ENST00000485409	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-3CDS	ENST00000485409	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-intron	ENST00000485409	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-intron	ENST00000485409	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-intron	ENST00000485409	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-intron	ENST00000485409	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-intron	ENST00000485409	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-intron	ENST00000485409	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-intron	ENST00000485409	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
5UTR-intron	ENST00000485409	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000314062	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000314062	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000346964	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000346964	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000357674	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000357674	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000392382	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000392382	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000419354	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000419354	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000422288	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000422288	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000448528	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000448528	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000450955	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
Frame-shift	ENST00000450955	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-3CDS	ENST00000443183	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-3CDS	ENST00000443183	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-3CDS	ENST00000452595	ENST00000342704	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-3CDS	ENST00000452595	ENST00000375279	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000443183	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000443183	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000443183	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000443183	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000443183	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000443183	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000443183	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000443183	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000452595	ENST00000344201	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000452595	ENST00000346541	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000452595	ENST00000359606	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000452595	ENST00000397798	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000452595	ENST00000397800	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000452595	ENST00000491618	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000452595	ENST00000492345	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+
intron-intron	ENST00000452595	ENST00000543126	DLG1	chr3	197009550	-	CBFA2T2	chr20	32232153	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for DLG1-CBFA2T2

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
DLG1	chr3	197009549	-	CBFA2T2	chr20	32232152	+	4.03E-08	1
DLG1	chr3	197009549	-	CBFA2T2	chr20	32232152	+	4.03E-08	1
DLG1	chr3	197009549	-	CBFA2T2	chr20	32232152	+	4.03E-08	1
DLG1	chr3	197009549	-	CBFA2T2	chr20	32232152	+	4.03E-08	1

Distribution 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.

Distribution 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-CBFA2T2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:197009550/:32232153)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	CBFA2T2 O43439
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity). {ECO:0000250\|UniProtKB:O70374, ECO:0000269\|PubMed:23251453, ECO:0000303\|PubMed:12559562, ECO:0000303\|PubMed:15203199}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for DLG1-CBFA2T2

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-CBFA2T2

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for DLG1-CBFA2T2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for DLG1-CBFA2T2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source