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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:RHPN2-BRSK1 (FusionGDB2 ID:74020)

Fusion Gene Summary for RHPN2-BRSK1

Fusion gene summary

Fusion gene information	Fusion gene name: RHPN2-BRSK1
	Fusion gene ID: 74020
		Hgene	Tgene
	Gene symbol	RHPN2	BRSK1
	Gene ID	85415	84446
	Gene name	rhophilin Rho GTPase binding protein 2	BR serine/threonine kinase 1
	Synonyms	P76RBE\|RHOBP	hSAD1
	Cytomap	19q13.11	19q13.42
	Type of gene	protein-coding	protein-coding
	Description	rhophilin-276 kDa RhoB effector proteinGTP-Rho-binding protein 2rhophilin-like Rho-GTPase binding protein	serine/threonine-protein kinase BRSK1BR serine/threonine-protein kinase 1SAD1 homologSAD1 kinaseSadB kinase short isoformbrain-selective kinase 1brain-specific serine/threonine-protein kinase 1protein kinase SAD1Aserine/threonine-protein kinase SA
	Modification date	20200313	20200313
	UniProtAcc	.	Q8TDC3
	Ensembl transtripts involved in fusion gene	ENST00000254260, ENST00000400226, ENST00000588683,	ENST00000326848, ENST00000588584, ENST00000309383, ENST00000585418, ENST00000590333,
Fusion gene scores	* DoF score	18 X 12 X 11=2376	5 X 5 X 4=100
	# samples	29	5
	** MAII score	log2(29/2376*10)=-3.03441003078583 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RHPN2 [Title/Abstract] AND BRSK1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	RHPN2(33555690)-BRSK1(55798375), # samples:2
Anticipated loss of major functional domain due to fusion event.	RHPN2-BRSK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. RHPN2-BRSK1 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF. RHPN2-BRSK1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
Tgene	BRSK1	GO:0000086	G2/M transition of mitotic cell cycle	15150265
Tgene	BRSK1	GO:0006468	protein phosphorylation	15150265
Tgene	BRSK1	GO:0006974	cellular response to DNA damage stimulus	15150265
Tgene	BRSK1	GO:0007095	mitotic G2 DNA damage checkpoint	15150265
Tgene	BRSK1	GO:0009411	response to UV	15150265
Tgene	BRSK1	GO:0010212	response to ionizing radiation	15150265
Tgene	BRSK1	GO:0018105	peptidyl-serine phosphorylation	15150265

Fusion gene breakpoints across RHPN2 (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 BRSK1 (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	ESCA	TCGA-L5-A4OQ-01A	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
ChimerDB4	ESCA	TCGA-L5-A4OQ	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+

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Fusion Gene ORF analysis for RHPN2-BRSK1

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	ENST00000254260	ENST00000326848	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
5CDS-intron	ENST00000254260	ENST00000326848	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
5CDS-intron	ENST00000254260	ENST00000588584	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
5CDS-intron	ENST00000254260	ENST00000588584	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
5UTR-3CDS	ENST00000400226	ENST00000309383	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
5UTR-3CDS	ENST00000400226	ENST00000309383	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
5UTR-3CDS	ENST00000400226	ENST00000585418	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
5UTR-3CDS	ENST00000400226	ENST00000585418	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
5UTR-3CDS	ENST00000400226	ENST00000590333	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
5UTR-3CDS	ENST00000400226	ENST00000590333	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
5UTR-intron	ENST00000400226	ENST00000326848	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
5UTR-intron	ENST00000400226	ENST00000326848	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
5UTR-intron	ENST00000400226	ENST00000588584	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
5UTR-intron	ENST00000400226	ENST00000588584	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
Frame-shift	ENST00000254260	ENST00000309383	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
Frame-shift	ENST00000254260	ENST00000309383	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
Frame-shift	ENST00000254260	ENST00000585418	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
Frame-shift	ENST00000254260	ENST00000585418	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
Frame-shift	ENST00000254260	ENST00000590333	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
Frame-shift	ENST00000254260	ENST00000590333	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
intron-3CDS	ENST00000588683	ENST00000309383	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
intron-3CDS	ENST00000588683	ENST00000309383	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
intron-3CDS	ENST00000588683	ENST00000585418	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
intron-3CDS	ENST00000588683	ENST00000585418	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
intron-3CDS	ENST00000588683	ENST00000590333	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
intron-3CDS	ENST00000588683	ENST00000590333	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
intron-intron	ENST00000588683	ENST00000326848	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
intron-intron	ENST00000588683	ENST00000326848	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+
intron-intron	ENST00000588683	ENST00000588584	RHPN2	chr19	33555690	-	BRSK1	chr19	55798375	+
intron-intron	ENST00000588683	ENST00000588584	RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+

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 RHPN2-BRSK1

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)
RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+	5.47E-16	1
RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+	5.47E-16	1
RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+	5.47E-16	1
RHPN2	chr19	33555689	-	BRSK1	chr19	55798374	+	5.47E-16	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 RHPN2-BRSK1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:33555690/:55798375)
- 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
.	BRSK1 Q8TDC3
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: Serine/threonine-protein kinase that plays a key role in polarization of neurons and centrosome duplication. Phosphorylates CDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. In neurons, localizes to synaptic vesicles and plays a role in neurotransmitter release, possibly by phosphorylating RIMS1. Also acts as a positive regulator of centrosome duplication by mediating phosphorylation of gamma-tubulin (TUBG1 and TUBG2) at 'Ser-131', leading to translocation of gamma-tubulin and its associated proteins to the centrosome. Involved in the UV-induced DNA damage checkpoint response, probably by inhibiting CDK1 activity through phosphorylation and activation of WEE1, and inhibition of CDC25B and CDC25C. {ECO:0000269\|PubMed:14976552, ECO:0000269\|PubMed:15150265, ECO:0000269\|PubMed:20026642, ECO:0000269\|PubMed:21985311}.

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 RHPN2-BRSK1

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 RHPN2-BRSK1

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 RHPN2-BRSK1

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 RHPN2-BRSK1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source