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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:BNC2-UHRF2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: BNC2-UHRF2
	FusionPDB ID: 9980
	FusionGDB2.0 ID: 9980
		Hgene	Tgene
	Gene symbol	BNC2	UHRF2
	Gene ID	54796	115426
	Gene name	basonuclin 2	ubiquitin like with PHD and ring finger domains 2
	Synonyms	BSN2\|LUTO	NIRF\|RNF107\|TDRD23\|URF2
	Cytomap	9p22.3-p22.2	9p24.1
	Type of gene	protein-coding	protein-coding
	Description	zinc finger protein basonuclin-2	E3 ubiquitin-protein ligase UHRF2Np95-like ring finger proteinRING finger protein 107RING-type E3 ubiquitin transferase UHRF2np95/ICBP90-like RING finger proteinnuclear protein 97nuclear zinc finger protein NP97ubiquitin-like PHD and RING finger do
	Modification date	20200313	20200313
	UniProtAcc	Q6ZN30	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000380666, ENST00000380667, ENST00000380672, ENST00000471301, ENST00000545497,	ENST00000485617, ENST00000276893, ENST00000381373,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	12 X 16 X 6=1152	14 X 11 X 8=1232
	# samples	16	16
	** MAII score	log2(16/1152*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(16/1232*10)=-2.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: BNC2 [Title/Abstract] AND UHRF2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	BNC2(16870644)-UHRF2(6420912), # samples:1
Anticipated loss of major functional domain due to fusion event.	BNC2-UHRF2 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. BNC2-UHRF2 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. BNC2-UHRF2 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. BNC2-UHRF2 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.

* 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	UHRF2	GO:0016567	protein ubiquitination	14741369
Tgene	UHRF2	GO:0051865	protein autoubiquitination	14741369
Tgene	UHRF2	GO:0071158	positive regulation of cell cycle arrest	15178429

Fusion gene breakpoints across BNC2 (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 UHRF2 (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	SARC	TCGA-DX-AB2E-01A	BNC2	chr9	16870644	-	UHRF2	chr9	6420912	+

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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)
ENST00000380672	BNC2	chr9	16870644	-	ENST00000276893	UHRF2	chr9	6420912	+	3192	61	58	2316	752
ENST00000380672	BNC2	chr9	16870644	-	ENST00000381373	UHRF2	chr9	6420912	+	637	61	58	318	86
ENST00000380667	BNC2	chr9	16870644	-	ENST00000276893	UHRF2	chr9	6420912	+	3217	86	14	2341	775
ENST00000380667	BNC2	chr9	16870644	-	ENST00000381373	UHRF2	chr9	6420912	+	662	86	14	343	109
ENST00000380666	BNC2	chr9	16870644	-	ENST00000276893	UHRF2	chr9	6420912	+	3274	143	71	2398	775
ENST00000380666	BNC2	chr9	16870644	-	ENST00000381373	UHRF2	chr9	6420912	+	719	143	71	400	109

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
ENST00000380672	ENST00000276893	BNC2	chr9	16870644	-	UHRF2	chr9	6420912	+	0.00010758	0.99989235
ENST00000380672	ENST00000381373	BNC2	chr9	16870644	-	UHRF2	chr9	6420912	+	0.29925567	0.7007444
ENST00000380667	ENST00000276893	BNC2	chr9	16870644	-	UHRF2	chr9	6420912	+	0.000109578	0.99989045
ENST00000380667	ENST00000381373	BNC2	chr9	16870644	-	UHRF2	chr9	6420912	+	0.28980055	0.7101994
ENST00000380666	ENST00000276893	BNC2	chr9	16870644	-	UHRF2	chr9	6420912	+	0.000112517	0.99988747
ENST00000380666	ENST00000381373	BNC2	chr9	16870644	-	UHRF2	chr9	6420912	+	0.18227217	0.81772786

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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

>9980_9980_1_BNC2-UHRF2_BNC2_chr9_16870644_ENST00000380666_UHRF2_chr9_6420912_ENST00000276893_length(amino acids)=775AA_BP=24
MVQARPLRGDQEAGAALDNQHAEMLENGYTLFDYDVGLNDIIQLLVRPDPDHLPGTSTQIEAKPCSNSPPKVKKAPRVGPSNQPSTSARA
RLIDPGFGIYKVNELVDARDVGLGAWFEAHIHSVTRASDGQSRGKTPLKNGSSCKRTNGNIKHKSKENTNKLDSVPSTSNSDCVAADEDV
IYHIQYDEYPESGTLEMNVKDLRPRARTILKWNELNVGDVVMVNYNVESPGQRGFWFDAEITTLKTISRTKKELRVKIFLGGSEGTLNDC
KIISVDEIFKIERPGAHPLSFADGKFLRRNDPECDLCGGDPEKKCHSCSCRVCGGKHEPNMQLLCDECNVAYHIYCLNPPLDKVPEEEYW
YCPSCKTDSSEVVKAGERLKMSKKKAKMPSASTESRRDWGRGMACVGRTRECTIVPSNHYGPIPGIPVGSTWRFRVQVSEAGVHRPHVGG
IHGRSNDGAYSLVLAGGFADEVDRGDEFTYTGSGGKNLAGNKRIGAPSADQTLTNMNRALALNCDAPLDDKIGAESRNWRAGKPVRVIRS
FKGRKISKYAPEEGNRYDGIYKVVKYWPEISSSHGFLVWRYLLRRDDVEPAPWTSEGIERSRRLCLRLQYPAGYPSDKEGKKPKGQSKKQ
PSGTTKRPISDDDCPSASKVYKASDSAEAIEAFQLTPQQQHLIREDCQNQKLWDEVLSHLVEGPNFLKKLEQSFMCVCCQELVYQPVTTE

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

>9980_9980_2_BNC2-UHRF2_BNC2_chr9_16870644_ENST00000380666_UHRF2_chr9_6420912_ENST00000381373_length(amino acids)=109AA_BP=24
MVQARPLRGDQEAGAALDNQHAEMLENGYTLFDYDVGLNDIIQLLVRPDPDHLPGTSTQIEAKPCSNSPPKVKKAPRVGPSNQPSTSARA

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

>9980_9980_3_BNC2-UHRF2_BNC2_chr9_16870644_ENST00000380667_UHRF2_chr9_6420912_ENST00000276893_length(amino acids)=775AA_BP=24
MVQARPLRGDQEAGAALDNQHAEMLENGYTLFDYDVGLNDIIQLLVRPDPDHLPGTSTQIEAKPCSNSPPKVKKAPRVGPSNQPSTSARA
RLIDPGFGIYKVNELVDARDVGLGAWFEAHIHSVTRASDGQSRGKTPLKNGSSCKRTNGNIKHKSKENTNKLDSVPSTSNSDCVAADEDV
IYHIQYDEYPESGTLEMNVKDLRPRARTILKWNELNVGDVVMVNYNVESPGQRGFWFDAEITTLKTISRTKKELRVKIFLGGSEGTLNDC
KIISVDEIFKIERPGAHPLSFADGKFLRRNDPECDLCGGDPEKKCHSCSCRVCGGKHEPNMQLLCDECNVAYHIYCLNPPLDKVPEEEYW
YCPSCKTDSSEVVKAGERLKMSKKKAKMPSASTESRRDWGRGMACVGRTRECTIVPSNHYGPIPGIPVGSTWRFRVQVSEAGVHRPHVGG
IHGRSNDGAYSLVLAGGFADEVDRGDEFTYTGSGGKNLAGNKRIGAPSADQTLTNMNRALALNCDAPLDDKIGAESRNWRAGKPVRVIRS
FKGRKISKYAPEEGNRYDGIYKVVKYWPEISSSHGFLVWRYLLRRDDVEPAPWTSEGIERSRRLCLRLQYPAGYPSDKEGKKPKGQSKKQ
PSGTTKRPISDDDCPSASKVYKASDSAEAIEAFQLTPQQQHLIREDCQNQKLWDEVLSHLVEGPNFLKKLEQSFMCVCCQELVYQPVTTE

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

>9980_9980_4_BNC2-UHRF2_BNC2_chr9_16870644_ENST00000380667_UHRF2_chr9_6420912_ENST00000381373_length(amino acids)=109AA_BP=24
MVQARPLRGDQEAGAALDNQHAEMLENGYTLFDYDVGLNDIIQLLVRPDPDHLPGTSTQIEAKPCSNSPPKVKKAPRVGPSNQPSTSARA

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

>9980_9980_5_BNC2-UHRF2_BNC2_chr9_16870644_ENST00000380672_UHRF2_chr9_6420912_ENST00000276893_length(amino acids)=752AA_BP=1
MLENGYTLFDYDVGLNDIIQLLVRPDPDHLPGTSTQIEAKPCSNSPPKVKKAPRVGPSNQPSTSARARLIDPGFGIYKVNELVDARDVGL
GAWFEAHIHSVTRASDGQSRGKTPLKNGSSCKRTNGNIKHKSKENTNKLDSVPSTSNSDCVAADEDVIYHIQYDEYPESGTLEMNVKDLR
PRARTILKWNELNVGDVVMVNYNVESPGQRGFWFDAEITTLKTISRTKKELRVKIFLGGSEGTLNDCKIISVDEIFKIERPGAHPLSFAD
GKFLRRNDPECDLCGGDPEKKCHSCSCRVCGGKHEPNMQLLCDECNVAYHIYCLNPPLDKVPEEEYWYCPSCKTDSSEVVKAGERLKMSK
KKAKMPSASTESRRDWGRGMACVGRTRECTIVPSNHYGPIPGIPVGSTWRFRVQVSEAGVHRPHVGGIHGRSNDGAYSLVLAGGFADEVD
RGDEFTYTGSGGKNLAGNKRIGAPSADQTLTNMNRALALNCDAPLDDKIGAESRNWRAGKPVRVIRSFKGRKISKYAPEEGNRYDGIYKV
VKYWPEISSSHGFLVWRYLLRRDDVEPAPWTSEGIERSRRLCLRLQYPAGYPSDKEGKKPKGQSKKQPSGTTKRPISDDDCPSASKVYKA
SDSAEAIEAFQLTPQQQHLIREDCQNQKLWDEVLSHLVEGPNFLKKLEQSFMCVCCQELVYQPVTTECFHNVCKDCLQRSFKAQVFSCPA

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

>9980_9980_6_BNC2-UHRF2_BNC2_chr9_16870644_ENST00000380672_UHRF2_chr9_6420912_ENST00000381373_length(amino acids)=86AA_BP=1

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

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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/chr9:16870644/chr9:6420912)
- 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
BNC2 Q6ZN30	.
FUNCTION: Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes (PubMed:14988505). May also play an important role in early urinary-tract development (PubMed:31051115). {ECO:0000269\|PubMed:14988505, ECO:0000269\|PubMed:31051115}.	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

Tgene

UHRF2

chr9:16870644

chr9:6420912

ENST00000276893

448_612

51.0

803.0

Domain

YDG

Tgene

UHRF2

chr9:16870644

chr9:6420912

ENST00000276893

344_395

51.0

803.0

Zinc finger

PHD-type

Tgene

UHRF2

chr9:16870644

chr9:6420912

ENST00000276893

733_772

51.0

803.0

Zinc finger

RING-type

- 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

BNC2

chr9:16870644

chr9:6420912

ENST00000380666

534_614

1.0

904.0

Compositional bias

Pro-rich

Hgene

BNC2

chr9:16870644

chr9:6420912

ENST00000380672

534_614

1.0

1100.0

Compositional bias

Pro-rich

Hgene

BNC2

chr9:16870644

chr9:6420912

ENST00000380666

1035_1058

1.0

904.0

Zinc finger

C2H2-type 3

Hgene

BNC2

chr9:16870644

chr9:6420912

ENST00000380666

1063_1090

1.0

904.0

Zinc finger

C2H2-type 4

Hgene

BNC2

chr9:16870644

chr9:6420912

ENST00000380666

441_464

1.0

904.0

Zinc finger

C2H2-type 1

Hgene

BNC2

chr9:16870644

chr9:6420912

ENST00000380666

833_856

1.0

904.0

Zinc finger

C2H2-type 2

Hgene

BNC2

chr9:16870644

chr9:6420912

ENST00000380672

1035_1058

1.0

1100.0

Zinc finger

C2H2-type 3

Hgene

BNC2

chr9:16870644

chr9:6420912

ENST00000380672

1063_1090

1.0

1100.0

Zinc finger

C2H2-type 4

Hgene

BNC2

chr9:16870644

chr9:6420912

ENST00000380672

441_464

1.0

1100.0

Zinc finger

C2H2-type 1

Hgene

BNC2

chr9:16870644

chr9:6420912

ENST00000380672

833_856

1.0

1100.0

Zinc finger

C2H2-type 2

Tgene

UHRF2

chr9:16870644

chr9:6420912

ENST00000276893

1_78

51.0

803.0

Domain

Ubiquitin-like

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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
BNC2
UHRF2

- 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 BNC2-UHRF2

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 BNC2-UHRF2

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