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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:CTSE-WBP2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: CTSE-WBP2
	FusionPDB ID: 20508
	FusionGDB2.0 ID: 20508
		Hgene	Tgene
	Gene symbol	CTSE	WBP2
	Gene ID	1510	23558
	Gene name	cathepsin E	WW domain binding protein 2
	Synonyms	CATE	DFNB107\|GRAMD6\|WBP-2
	Cytomap	1q32.1	17q25.1
	Type of gene	protein-coding	protein-coding
	Description	cathepsin Eerythrocyte membrane aspartic proteinaseslow-moving proteinase	WW domain-binding protein 2
	Modification date	20200313	20200313
	UniProtAcc	P14091	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000468617, ENST00000358184, ENST00000360218, ENST00000361052, ENST00000432969,	ENST00000254806, ENST00000344296, ENST00000433525, ENST00000585462, ENST00000590221, ENST00000591399, ENST00000590450,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 3 X 2=30	5 X 5 X 3=75
	# samples	4	6
	** MAII score	log2(4/30*10)=0.415037499278844 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: CTSE [Title/Abstract] AND WBP2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	CTSE(206325437)-WBP2(73842868), # samples:1
Anticipated loss of major functional domain due to fusion event.	CTSE-WBP2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CTSE-WBP2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CTSE-WBP2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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	CTSE	GO:0006508	proteolysis	16997486
Hgene	CTSE	GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	8765029
Tgene	WBP2	GO:0032570	response to progesterone	16772533
Tgene	WBP2	GO:0033148	positive regulation of intracellular estrogen receptor signaling pathway	16772533
Tgene	WBP2	GO:0043627	response to estrogen	16772533
Tgene	WBP2	GO:0050847	progesterone receptor signaling pathway	16772533

Fusion gene breakpoints across CTSE (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 WBP2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	Non-Cancer	215N	CTSE	chr1	206325437	+	WBP2	chr17	73842868	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000361052	CTSE	chr1	206325437	+	ENST00000433525	WBP2	chr17	73842868	-	1088	795	100	960	286
ENST00000358184	CTSE	chr1	206325437	+	ENST00000433525	WBP2	chr17	73842868	-	1073	780	100	945	281
ENST00000360218	CTSE	chr1	206325437	+	ENST00000433525	WBP2	chr17	73842868	-	1059	766	86	931	281
ENST00000432969	CTSE	chr1	206325437	+	ENST00000433525	WBP2	chr17	73842868	-	769	476	39	641	200

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
ENST00000361052	ENST00000433525	CTSE	chr1	206325437	+	WBP2	chr17	73842868	-	0.10344717	0.8965528
ENST00000358184	ENST00000433525	CTSE	chr1	206325437	+	WBP2	chr17	73842868	-	0.17646319	0.82353675
ENST00000360218	ENST00000433525	CTSE	chr1	206325437	+	WBP2	chr17	73842868	-	0.1889953	0.81100464
ENST00000432969	ENST00000433525	CTSE	chr1	206325437	+	WBP2	chr17	73842868	-	0.1356341	0.8643659

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>20508_20508_1_CTSE-WBP2_CTSE_chr1_206325437_ENST00000358184_WBP2_chr17_73842868_ENST00000433525_length(amino acids)=281AA_BP=226
MLVGLTMKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISI
GSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTVVGQQFGESVTEPGQ
TFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSRASRRHLPTTHRKIRRPSRPSCLPASHPHLSTLPLPSGLCWGLG

--------------------------------------------------------------

>20508_20508_2_CTSE-WBP2_CTSE_chr1_206325437_ENST00000360218_WBP2_chr17_73842868_ENST00000433525_length(amino acids)=281AA_BP=226
MLVGLTMKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISI
GSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTVVGQQFGESVTEPGQ
TFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSRASRRHLPTTHRKIRRPSRPSCLPASHPHLSTLPLPSGLCWGLG

--------------------------------------------------------------

>20508_20508_3_CTSE-WBP2_CTSE_chr1_206325437_ENST00000361052_WBP2_chr17_73842868_ENST00000433525_length(amino acids)=286AA_BP=231
MLVGLTMKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSEFWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISI
GSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSAFSYQVEGLTVVGQQFGESV
TEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSRASRRHLPTTHRKIRRPSRPSCLPASHPHLSTLPLPSGL

--------------------------------------------------------------

>20508_20508_4_CTSE-WBP2_CTSE_chr1_206325437_ENST00000432969_WBP2_chr17_73842868_ENST00000433525_length(amino acids)=200AA_BP=145
MEYFGTISIGSPPQNFTVIFDTGSSNLWVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTVVGQQF
GESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVYMSRASRRHLPTTHRKIRRPSRPSCLPASHPHLSTLPL

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:206325437/chr17:73842868)
- 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
CTSE P14091	.
FUNCTION: May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain. {ECO:0000269\|PubMed:8765029}.	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.

- 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

- 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

Hgene

CTSE

chr1:206325437

chr17:73842868

ENST00000358184

78_396

220.66666666666666

397.0

Domain

Peptidase A1

Hgene

CTSE

chr1:206325437

chr17:73842868

ENST00000360218

78_396

220.66666666666666

364.0

Domain

Peptidase A1

Tgene

WBP2

chr1:206325437

chr17:73842868

ENST00000254806

146_255

244.0

262.0

Compositional bias

Note=Pro-rich

Tgene

WBP2

chr1:206325437

chr17:73842868

ENST00000591399

146_255

244.0

262.0

Compositional bias

Note=Pro-rich

Tgene

WBP2

chr1:206325437

chr17:73842868

ENST00000254806

1_84

244.0

262.0

Domain

Note=GRAM

Tgene

WBP2

chr1:206325437

chr17:73842868

ENST00000591399

1_84

244.0

262.0

Domain

Note=GRAM

Tgene

WBP2

chr1:206325437

chr17:73842868

ENST00000254806

196_200

244.0

262.0

Motif

Note=PPxY motif 1

Tgene

WBP2

chr1:206325437

chr17:73842868

ENST00000591399

196_200

244.0

262.0

Motif

Note=PPxY motif 1

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
CTSE
WBP2

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to CTSE-WBP2

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to CTSE-WBP2

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source