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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:UBR4-UBR4 (FusionGDB2 ID:95795)

Fusion Gene Summary for UBR4-UBR4

Fusion gene summary

Fusion gene information	Fusion gene name: UBR4-UBR4
	Fusion gene ID: 95795
		Hgene	Tgene
	Gene symbol	UBR4	UBR4
	Gene ID	23352	23352
	Gene name	ubiquitin protein ligase E3 component n-recognin 4	ubiquitin protein ligase E3 component n-recognin 4
	Synonyms	RBAF600\|ZUBR1\|p600	RBAF600\|ZUBR1\|p600
	Cytomap	1p36.13	1p36.13
	Type of gene	protein-coding	protein-coding
	Description	E3 ubiquitin-protein ligase UBR4N-recognin-4RING-type E3 ubiquitin transferase UBR4retinoblastoma-associated factor 600-like proteinretinoblastoma-associated factor of 600 kDazinc finger UBR1-type protein 1	E3 ubiquitin-protein ligase UBR4N-recognin-4RING-type E3 ubiquitin transferase UBR4retinoblastoma-associated factor 600-like proteinretinoblastoma-associated factor of 600 kDazinc finger UBR1-type protein 1
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000375217, ENST00000375226, ENST00000375267, ENST00000375254, ENST00000375225, ENST00000429347, ENST00000375224, ENST00000543981, ENST00000467272, ENST00000375218,	ENST00000375217, ENST00000375226, ENST00000375267, ENST00000375254, ENST00000375225, ENST00000429347, ENST00000375224, ENST00000543981, ENST00000467272, ENST00000375218,
Fusion gene scores	* DoF score	14 X 14 X 7=1372	14 X 16 X 7=1568
	# samples	14	16
	** MAII score	log2(14/1372*10)=-3.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(16/1568*10)=-3.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: UBR4 [Title/Abstract] AND UBR4 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	UBR4(19433112)-UBR4(19446193), # 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
Hgene	UBR4	GO:0006511	ubiquitin-dependent protein catabolic process	23932781
Tgene	UBR4	GO:0006511	ubiquitin-dependent protein catabolic process	23932781

Fusion gene breakpoints across UBR4 (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 UBR4 (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	BP355292	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-

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Fusion Gene ORF analysis for UBR4-UBR4

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
intron-3CDS	ENST00000375217	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375217	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375217	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375217	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375217	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375217	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375217	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375217	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375217	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375217	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375226	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375226	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375226	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375226	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375226	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375226	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375226	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375226	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375226	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375226	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375267	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375267	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375267	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375267	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375267	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375267	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375267	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375267	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375267	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375267	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375254	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375254	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375254	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375254	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375254	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375254	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375254	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375254	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375254	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375254	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375225	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375225	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375225	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375225	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375225	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375225	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375225	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375225	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375225	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375225	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000429347	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000429347	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000429347	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000429347	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000429347	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000429347	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000429347	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000429347	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000429347	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000429347	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375224	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375224	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375224	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375224	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375224	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375224	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375224	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375224	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375224	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375224	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000543981	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000543981	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000543981	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000543981	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000543981	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000543981	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000543981	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000543981	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000543981	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000543981	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000467272	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000467272	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000467272	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000467272	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000467272	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000467272	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000467272	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000467272	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000467272	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000467272	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375218	ENST00000375217	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375218	ENST00000375226	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375218	ENST00000375267	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-3CDS	ENST00000375218	ENST00000375254	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375218	ENST00000375225	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375218	ENST00000429347	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375218	ENST00000375224	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375218	ENST00000543981	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375218	ENST00000467272	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-
intron-intron	ENST00000375218	ENST00000375218	UBR4	chr1	19433112	-	UBR4	chr1	19446193	-

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 UBR4-UBR4

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 UBR4-UBR4

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 UBR4-UBR4

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 UBR4-UBR4

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 UBR4-UBR4

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 UBR4-UBR4

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	UBR4	C1720189	Episodic Ataxia	1	GENOMICS_ENGLAND
Hgene	UBR4	C4015108	Episodic ataxia with slurred speech	1	GENOMICS_ENGLAND
Tgene	UBR4	C1720189	Episodic Ataxia	1	GENOMICS_ENGLAND
Tgene	UBR4	C4015108	Episodic ataxia with slurred speech	1	GENOMICS_ENGLAND