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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:PBX1-DISC1 (FusionGDB2 ID:HG5087TG27185)

Fusion Gene Summary for PBX1-DISC1

Fusion gene summary

Fusion gene information	Fusion gene name: PBX1-DISC1
	Fusion gene ID: hg5087tg27185
		Hgene	Tgene
	Gene symbol	PBX1	DISC1
	Gene ID	5087	27185
	Gene name	PBX homeobox 1	DISC1 scaffold protein
	Synonyms	CAKUHED	C1orf136\|SCZD9
	Cytomap	('PBX1')('DISC1') 1q23.3	1q42.2
	Type of gene	protein-coding	protein-coding
	Description	pre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1	disrupted in schizophrenia 1 protein
	Modification date	20200313	20200315
	UniProtAcc	P40424	.
	Ensembl transtripts involved in fusion gene	ENST00000367897, ENST00000401534, ENST00000420696, ENST00000540236, ENST00000559240, ENST00000474046, ENST00000485769, ENST00000540246, ENST00000560641,
Fusion gene scores	* DoF score	16 X 10 X 5=800	5 X 6 X 4=120
	# samples	21	6
	** MAII score	log2(21/800*10)=-1.9296106721086 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PBX1 [Title/Abstract] AND DISC1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	PBX1(164532548)-DISC1(232094574), # samples:5
Anticipated loss of major functional domain due to fusion event.

* 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

Fusion gene information
* 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	BRCA	TCGA-A7-A13D-01A	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
ChimerDB4	BRCA	TCGA-A7-A13D-01B	PBX1	chr1	164532548	-	DISC1	chr1	232094574	+
ChimerDB4	BRCA	TCGA-A7-A13D-01B	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
ChimerDB4	BRCA	TCGA-A7-A13D	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+

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Fusion Gene ORF analysis for PBX1-DISC1

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-3UTR	ENST00000367897	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000367897	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-3UTR	ENST00000401534	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000401534	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-3UTR	ENST00000420696	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000420696	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-3UTR	ENST00000540236	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000540236	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-3UTR	ENST00000559240	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-3UTR	ENST00000559240	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000367897	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000367897	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000367897	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000367897	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000401534	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000401534	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000401534	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000401534	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000420696	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000420696	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000420696	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000420696	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000540236	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000540236	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000540236	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000540236	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000559240	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000559240	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-5UTR	ENST00000559240	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-5UTR	ENST00000559240	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000367897	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000367897	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000367897	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000367897	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000367897	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000367897	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000367897	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000367897	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000367897	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000401534	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000401534	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000401534	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000401534	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000401534	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000401534	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000401534	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000401534	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000401534	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000420696	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000420696	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000420696	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000420696	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000420696	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000420696	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000420696	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000420696	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000420696	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000540236	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000540236	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000540236	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000540236	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000540236	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000540236	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000540236	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000540236	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000540236	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000559240	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000559240	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000559240	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000559240	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000559240	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000559240	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000559240	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
5CDS-intron	ENST00000559240	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
5CDS-intron	ENST00000559240	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-3UTR	ENST00000474046	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-3UTR	ENST00000474046	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-3UTR	ENST00000485769	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-3UTR	ENST00000485769	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-3UTR	ENST00000540246	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-3UTR	ENST00000540246	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-3UTR	ENST00000560641	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-3UTR	ENST00000560641	ENST00000427560	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-5UTR	ENST00000474046	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000474046	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-5UTR	ENST00000474046	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000474046	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-5UTR	ENST00000485769	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000485769	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-5UTR	ENST00000485769	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000485769	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-5UTR	ENST00000540246	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000540246	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-5UTR	ENST00000540246	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000540246	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-5UTR	ENST00000560641	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000560641	ENST00000366637	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-5UTR	ENST00000560641	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-5UTR	ENST00000560641	ENST00000439617	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000474046	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000474046	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000474046	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000474046	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000474046	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000474046	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000474046	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000474046	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000474046	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000485769	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000485769	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000485769	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000485769	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000485769	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000485769	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000485769	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000485769	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000485769	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000540246	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000540246	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000540246	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000540246	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000540246	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000540246	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000540246	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000540246	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000540246	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000560641	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000317586	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000560641	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000366633	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000560641	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000366636	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000560641	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000535983	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000560641	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000537876	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000560641	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000539444	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000560641	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000602281	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+
intron-intron	ENST00000560641	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094574	+
intron-intron	ENST00000560641	ENST00000602873	PBX1	chr1	164532548	+	DISC1	chr1	232094573	+

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 PBX1-DISC1

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)
PBX1	chr1	164532548	+	DISC1	chr1	232094573	+	0.005480153	0.9945199
PBX1	chr1	164532548	+	DISC1	chr1	232094573	+	0.005480153	0.9945199
PBX1	chr1	164532548	+	DISC1	chr1	232094573	+	0.005480153	0.9945199
PBX1	chr1	164532548	+	DISC1	chr1	232094573	+	0.005480153	0.9945199
PBX1	chr1	164532548	+	DISC1	chr1	232094573	+	0.005480153	0.9945199
PBX1	chr1	164532548	+	DISC1	chr1	232094573	+	0.005480153	0.9945199

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 PBX1-DISC1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:164532548/:232094574)
- 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
PBX1 P40424	.
FUNCTION: Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 (PubMed:9191052). Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein (PubMed:9191052). Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 (PubMed:8327485, PubMed:7791786). Acts as a transcriptional activator of PF4 in complex with MEIS1 (PubMed:12609849). Also activates transcription of SOX3 in complex with MEIS1 by binding to the 5'-TGATTGAC-3' consensus sequence (By similarity). In natural killer cells, binds to the NFIL3 promoter and acts as a transcriptional activator of NFIL3, promoting natural killer cell development (By similarity). Plays a role in the cAMP-dependent regulation of CYP17A1 gene expression via its cAMP-regulatory sequence (CRS1) (By similarity). Probably in complex with MEIS2, involved in transcriptional regulation by KLF4 (PubMed:21746878). Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B (By similarity). Together with NKX2-5, required for spleen development through a mechanism that involves CDKN2B repression (By similarity). {ECO:0000250\|UniProtKB:P41778, ECO:0000269\|PubMed:12609849, ECO:0000269\|PubMed:21746878, ECO:0000269\|PubMed:7791786, ECO:0000269\|PubMed:8327485, ECO:0000269\|PubMed:9191052}.; FUNCTION: [Isoform PBX1b]: As part of a PDX1:PBX1b:MEIS2B complex in pancreatic acinar cells, is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. {ECO:0000250\|UniProtKB:P41778}.	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}.

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 PBX1-DISC1

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 PBX1-DISC1

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 PBX1-DISC1

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 PBX1-DISC1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	PBX1	C0006413	Burkitt Lymphoma	2	CTD_human;ORPHANET
Hgene	PBX1	C0343640	African Burkitt's lymphoma	2	CTD_human
Hgene	PBX1	C1968949	Cakut	2	GENOMICS_ENGLAND
Hgene	PBX1	C4721444	Burkitt Leukemia	2	CTD_human
Hgene	PBX1	C0013146	Drug abuse	1	CTD_human
Hgene	PBX1	C0013170	Drug habituation	1	CTD_human
Hgene	PBX1	C0013222	Drug Use Disorders	1	CTD_human
Hgene	PBX1	C0029231	Organic Mental Disorders, Substance-Induced	1	CTD_human
Hgene	PBX1	C0038580	Substance Dependence	1	CTD_human
Hgene	PBX1	C0038586	Substance Use Disorders	1	CTD_human
Hgene	PBX1	C0236969	Substance-Related Disorders	1	CTD_human
Hgene	PBX1	C0431692	Bilateral renal hypoplasia	1	ORPHANET
Hgene	PBX1	C0740858	Substance abuse problem	1	CTD_human
Hgene	PBX1	C1510472	Drug Dependence	1	CTD_human
Hgene	PBX1	C4316881	Prescription Drug Abuse	1	CTD_human
Hgene	PBX1	C4539968	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY	1	GENOMICS_ENGLAND
Tgene		C0011581	Depressive disorder	6	CTD_human;PSYGENET
Tgene		C0041696	Unipolar Depression	6	CTD_human;PSYGENET
Tgene		C0005586	Bipolar Disorder	5	PSYGENET
Tgene		C0011570	Mental Depression	5	PSYGENET
Tgene		C0525045	Mood Disorders	5	PSYGENET
Tgene		C1269683	Major Depressive Disorder	5	PSYGENET
Tgene		C0004352	Autistic Disorder	2	CTD_human
Tgene		C0036341	Schizophrenia	2	CTD_human
Tgene		C0003469	Anxiety Disorders	1	CTD_human
Tgene		C0005587	Depression, Bipolar	1	PSYGENET
Tgene		C0011573	Endogenous depression	1	CTD_human
Tgene		C0011757	Developmental Coordination Disorder	1	CTD_human
Tgene		C0020796	Profound Mental Retardation	1	CTD_human
Tgene		C0025193	Melancholia	1	CTD_human
Tgene		C0025363	Mental Retardation, Psychosocial	1	CTD_human
Tgene		C0026613	Motor Skills Disorders	1	CTD_human
Tgene		C0030193	Pain	1	CTD_human
Tgene		C0086133	Depressive Syndrome	1	CTD_human
Tgene		C0178417	Anhedonia	1	PSYGENET
Tgene		C0234230	Pain, Burning	1	CTD_human
Tgene		C0234238	Ache	1	CTD_human
Tgene		C0234254	Radiating pain	1	CTD_human
Tgene		C0236792	Asperger Syndrome	1	CTD_human
Tgene		C0282126	Depression, Neurotic	1	CTD_human
Tgene		C0376280	Anxiety States, Neurotic	1	CTD_human
Tgene		C0458257	Pain, Splitting	1	CTD_human
Tgene		C0458259	Pain, Crushing	1	CTD_human
Tgene		C0751217	Hyperkinesia, Generalized	1	CTD_human
Tgene		C0751407	Pain, Migratory	1	CTD_human
Tgene		C0751408	Suffering, Physical	1	CTD_human
Tgene		C0917816	Mental deficiency	1	CTD_human
Tgene		C1279420	Anxiety neurosis (finding)	1	CTD_human
Tgene		C3714756	Intellectual Disability	1	CTD_human
Tgene		C3887506	Hyperkinesia	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:PBX1-DISC1 (FusionGDB2 ID:HG5087TG27185)

Fusion Gene Summary for PBX1-DISC1

Fusion Gene ORF analysis for PBX1-DISC1

Fusion Genomic Features for PBX1-DISC1

Fusion Protein Features for PBX1-DISC1

Fusion Gene Sequence for PBX1-DISC1

Fusion Gene PPI Analysis for PBX1-DISC1

Related Drugs for PBX1-DISC1

Related Diseases for PBX1-DISC1

Fusion Gene Studies
in Kim Lab