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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:DBI-UBB (FusionGDB2 ID:21435)

Fusion Gene Summary for DBI-UBB

Fusion gene summary

Fusion gene information	Fusion gene name: DBI-UBB
	Fusion gene ID: 21435
		Hgene	Tgene
	Gene symbol	DBI	UBB
	Gene ID	1622	7314
	Gene name	diazepam binding inhibitor, acyl-CoA binding protein	ubiquitin B
	Synonyms	ACBD1\|ACBP\|CCK-RP\|EP	HEL-S-50
	Cytomap	2q14.2	17p11.2
	Type of gene	protein-coding	protein-coding
	Description	acyl-CoA-binding proteinGABA receptor modulatoracyl coenzyme A binding proteinacyl-Coenzyme A binding domain containing 1cholecystokinin-releasing peptide, trypsin-sensitivediazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein	polyubiquitin-Bepididymis secretory protein Li 50polyubiquitin B
	Modification date	20200320	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000355857, ENST00000535617, ENST00000535757, ENST00000409094, ENST00000311521, ENST00000460901, ENST00000542275, ENST00000393103,	ENST00000302182, ENST00000535788, ENST00000578649, ENST00000395839, ENST00000395837,
Fusion gene scores	* DoF score	12 X 6 X 1=72	34 X 9 X 11=3366
	# samples	12	34
	** MAII score	log2(12/72*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(34/3366*10)=-3.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: DBI [Title/Abstract] AND UBB [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	DBI(120130114)-UBB(16285804), # samples:1
Anticipated loss of major functional domain due to fusion event.	DBI-UBB seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. DBI-UBB 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	DBI	GO:0036151	phosphatidylcholine acyl-chain remodeling	21079819
Hgene	DBI	GO:1903060	negative regulation of protein lipidation	21079819
Hgene	DBI	GO:1905920	positive regulation of CoA-transferase activity	21079819
Hgene	DBI	GO:2001140	positive regulation of phospholipid transport	21079819
Tgene	UBB	GO:0031398	positive regulation of protein ubiquitination	24660806
Tgene	UBB	GO:0047497	mitochondrion transport along microtubule	17571083
Tgene	UBB	GO:0051881	regulation of mitochondrial membrane potential	17571083
Tgene	UBB	GO:0061136	regulation of proteasomal protein catabolic process	17571083
Tgene	UBB	GO:1901214	regulation of neuron death	17571083
Tgene	UBB	GO:1902255	positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator	17571083

Fusion gene breakpoints across DBI (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 UBB (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
ChiTaRS5.0	N/A	EL951497	DBI	chr2	120130114	+	UBB	chr17	16285804	+

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Fusion Gene ORF analysis for DBI-UBB

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
3UTR-3CDS	ENST00000355857	ENST00000302182	DBI	chr2	120130114	+	UBB	chr17	16285804	+
3UTR-3CDS	ENST00000355857	ENST00000535788	DBI	chr2	120130114	+	UBB	chr17	16285804	+
3UTR-3UTR	ENST00000355857	ENST00000578649	DBI	chr2	120130114	+	UBB	chr17	16285804	+
3UTR-3UTR	ENST00000355857	ENST00000395839	DBI	chr2	120130114	+	UBB	chr17	16285804	+
3UTR-3UTR	ENST00000355857	ENST00000395837	DBI	chr2	120130114	+	UBB	chr17	16285804	+
Frame-shift	ENST00000535617	ENST00000302182	DBI	chr2	120130114	+	UBB	chr17	16285804	+
Frame-shift	ENST00000535617	ENST00000535788	DBI	chr2	120130114	+	UBB	chr17	16285804	+
5CDS-3UTR	ENST00000535617	ENST00000578649	DBI	chr2	120130114	+	UBB	chr17	16285804	+
5CDS-3UTR	ENST00000535617	ENST00000395839	DBI	chr2	120130114	+	UBB	chr17	16285804	+
5CDS-3UTR	ENST00000535617	ENST00000395837	DBI	chr2	120130114	+	UBB	chr17	16285804	+
Frame-shift	ENST00000535757	ENST00000302182	DBI	chr2	120130114	+	UBB	chr17	16285804	+
Frame-shift	ENST00000535757	ENST00000535788	DBI	chr2	120130114	+	UBB	chr17	16285804	+
5CDS-3UTR	ENST00000535757	ENST00000578649	DBI	chr2	120130114	+	UBB	chr17	16285804	+
5CDS-3UTR	ENST00000535757	ENST00000395839	DBI	chr2	120130114	+	UBB	chr17	16285804	+
5CDS-3UTR	ENST00000535757	ENST00000395837	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3CDS	ENST00000409094	ENST00000302182	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3CDS	ENST00000409094	ENST00000535788	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3UTR	ENST00000409094	ENST00000578649	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3UTR	ENST00000409094	ENST00000395839	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3UTR	ENST00000409094	ENST00000395837	DBI	chr2	120130114	+	UBB	chr17	16285804	+
3UTR-3CDS	ENST00000311521	ENST00000302182	DBI	chr2	120130114	+	UBB	chr17	16285804	+
3UTR-3CDS	ENST00000311521	ENST00000535788	DBI	chr2	120130114	+	UBB	chr17	16285804	+
3UTR-3UTR	ENST00000311521	ENST00000578649	DBI	chr2	120130114	+	UBB	chr17	16285804	+
3UTR-3UTR	ENST00000311521	ENST00000395839	DBI	chr2	120130114	+	UBB	chr17	16285804	+
3UTR-3UTR	ENST00000311521	ENST00000395837	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3CDS	ENST00000460901	ENST00000302182	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3CDS	ENST00000460901	ENST00000535788	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3UTR	ENST00000460901	ENST00000578649	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3UTR	ENST00000460901	ENST00000395839	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3UTR	ENST00000460901	ENST00000395837	DBI	chr2	120130114	+	UBB	chr17	16285804	+
Frame-shift	ENST00000542275	ENST00000302182	DBI	chr2	120130114	+	UBB	chr17	16285804	+
Frame-shift	ENST00000542275	ENST00000535788	DBI	chr2	120130114	+	UBB	chr17	16285804	+
5CDS-3UTR	ENST00000542275	ENST00000578649	DBI	chr2	120130114	+	UBB	chr17	16285804	+
5CDS-3UTR	ENST00000542275	ENST00000395839	DBI	chr2	120130114	+	UBB	chr17	16285804	+
5CDS-3UTR	ENST00000542275	ENST00000395837	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3CDS	ENST00000393103	ENST00000302182	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3CDS	ENST00000393103	ENST00000535788	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3UTR	ENST00000393103	ENST00000578649	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3UTR	ENST00000393103	ENST00000395839	DBI	chr2	120130114	+	UBB	chr17	16285804	+
intron-3UTR	ENST00000393103	ENST00000395837	DBI	chr2	120130114	+	UBB	chr17	16285804	+

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 DBI-UBB

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)

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 DBI-UBB

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.

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

Hgene	Tgene
.	.
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: 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.

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 DBI-UBB

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 DBI-UBB

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 DBI-UBB

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 DBI-UBB

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	DBI	C0007097	Carcinoma	1	CTD_human
Hgene	DBI	C0024667	Animal Mammary Neoplasms	1	CTD_human
Hgene	DBI	C0024668	Mammary Neoplasms, Experimental	1	CTD_human
Hgene	DBI	C0205696	Anaplastic carcinoma	1	CTD_human
Hgene	DBI	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
Hgene	DBI	C0205698	Undifferentiated carcinoma	1	CTD_human
Hgene	DBI	C0205699	Carcinomatosis	1	CTD_human
Hgene	DBI	C1257925	Mammary Carcinoma, Animal	1	CTD_human
Tgene	UBB	C0266122	Cleft uvula	1	ORPHANET
Tgene	UBB	C0432090	Cleft of hard palate	1	ORPHANET
Tgene	UBB	C0432098	Cleft Soft Palate	1	ORPHANET
Tgene	UBB	C0432103	Submucous cleft of hard palate	1	ORPHANET
Tgene	UBB	C4551487	Submucous cleft palate	1	ORPHANET