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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:BSG-PLEKHB2 (FusionGDB2 ID:HG682TG55041)

Fusion Gene Summary for BSG-PLEKHB2

Fusion gene summary

Fusion gene information	Fusion gene name: BSG-PLEKHB2
	Fusion gene ID: hg682tg55041
		Hgene	Tgene
	Gene symbol	BSG	PLEKHB2
	Gene ID	682	55041
	Gene name	basigin (Ok blood group)	pleckstrin homology domain containing B2
	Synonyms	5F7\|CD147\|EMMPRIN\|EMPRIN\|OK\|SLC7A11\|TCSF	EVT2
	Cytomap	('BSG')('PLEKHB2') 19p13.3	2q21.1
	Type of gene	protein-coding	protein-coding
	Description	basiginOK blood group antigencollagenase stimulatory factorextracellular matrix metalloproteinase inducerleukocyte activation antigen M6tumor cell-derived collagenase stimulatory factor	pleckstrin homology domain-containing family B member 2PH domain-containing family B member 2evectin-2pleckstrin homology domain containing, family B (evectins) member 2
	Modification date	20200315	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000333511, ENST00000346916, ENST00000353555, ENST00000545507, ENST00000574970,
Fusion gene scores	* DoF score	26 X 17 X 12=5304	17 X 6 X 12=1224
	# samples	29	18
	** MAII score	log2(29/5304*10)=-4.19295597009765 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(18/1224*10)=-2.76553474636298 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: BSG [Title/Abstract] AND PLEKHB2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	BSG(583492)-PLEKHB2(131876464), # samples:1
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 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	LUAD	TCGA-50-6673-01A	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+

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Fusion Gene ORF analysis for BSG-PLEKHB2

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	ENST00000333511	ENST00000234115	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000303908	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000403716	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000404460	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000409158	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000409279	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000409612	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000438882	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000439822	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000487980	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000333511	ENST00000538982	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000234115	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000303908	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000403716	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000404460	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000409158	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000409279	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000409612	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000438882	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000439822	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000487980	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000346916	ENST00000538982	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000234115	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000303908	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000403716	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000404460	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000409158	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000409279	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000409612	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000438882	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000439822	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000487980	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000353555	ENST00000538982	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000234115	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000303908	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000403716	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000404460	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000409158	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000409279	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000409612	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000438882	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000439822	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000487980	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
5CDS-intron	ENST00000545507	ENST00000538982	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000234115	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000303908	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000403716	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000404460	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000409158	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000409279	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000409612	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000438882	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000439822	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000487980	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+
intron-intron	ENST00000574970	ENST00000538982	BSG	chr19	583492	-	PLEKHB2	chr2	131876464	+

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 BSG-PLEKHB2

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)

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Fusion Protein Features for BSG-PLEKHB2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:583492/:131876464)
- 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
.	.
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 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 BSG-PLEKHB2

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 BSG-PLEKHB2

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 BSG-PLEKHB2

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 BSG-PLEKHB2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	BSG	C0015697	Arterial Fatty Streak	1	CTD_human
Hgene	BSG	C0027626	Neoplasm Invasiveness	1	CTD_human
Hgene	BSG	C0027627	Neoplasm Metastasis	1	CTD_human
Hgene	BSG	C0027659	Neoplasms, Experimental	1	CTD_human
Hgene	BSG	C0264956	Atheroma	1	CTD_human
Hgene	BSG	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	1	CTD_human
Hgene	BSG	C1862941	Amyotrophic Lateral Sclerosis, Sporadic	1	CTD_human
Hgene	BSG	C2936350	Plaque, Atherosclerotic	1	CTD_human
Hgene	BSG	C2936351	Fibroatheroma	1	CTD_human
Hgene	BSG	C4551993	Amyotrophic Lateral Sclerosis, Familial	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:BSG-PLEKHB2 (FusionGDB2 ID:HG682TG55041)

Fusion Gene Summary for BSG-PLEKHB2

Fusion Gene ORF analysis for BSG-PLEKHB2

Fusion Genomic Features for BSG-PLEKHB2

Fusion Protein Features for BSG-PLEKHB2

Fusion Gene Sequence for BSG-PLEKHB2

Fusion Gene PPI Analysis for BSG-PLEKHB2

Related Drugs for BSG-PLEKHB2

Related Diseases for BSG-PLEKHB2

Fusion Gene Studies
in Kim Lab