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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:UCHL5-RABGAP1L (FusionGDB2 ID:95894)

Fusion Gene Summary for UCHL5-RABGAP1L

Fusion gene summary

Fusion gene information	Fusion gene name: UCHL5-RABGAP1L
	Fusion gene ID: 95894
		Hgene	Tgene
	Gene symbol	UCHL5	RABGAP1L
	Gene ID	51377	9910
	Gene name	ubiquitin C-terminal hydrolase L5	RAB GTPase activating protein 1 like
	Synonyms	CGI-70\|INO80R\|UCH-L5\|UCH37	HHL\|TBC1D18
	Cytomap	1q31.2	1q25.1
	Type of gene	protein-coding	protein-coding
	Description	ubiquitin carboxyl-terminal hydrolase isozyme L5INO80 complex subunit Rubiquitin C-terminal hydrolase UCH37ubiquitin carboxyl-terminal esterase L5ubiquitin carboxyl-terminal hydrolase L5ubiquitin thioesterase L5	rab GTPase-activating protein 1-likeTBC1 domain family, member 18expressed in hematopoietic cells, heart, liver (HLL)
	Modification date	20200329	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000367455, ENST00000367454, ENST00000367451, ENST00000367448, ENST00000367449, ENST00000367452, ENST00000530098, ENST00000483156,	ENST00000367689, ENST00000357444, ENST00000251507, ENST00000325589, ENST00000367686, ENST00000367687, ENST00000347255, ENST00000489615, ENST00000478442, ENST00000486220, ENST00000392064, ENST00000367688,
Fusion gene scores	* DoF score	6 X 5 X 5=150	16 X 16 X 10=2560
	# samples	7	19
	** MAII score	log2(7/150*10)=-1.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(19/2560*10)=-3.75207248655641 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: UCHL5 [Title/Abstract] AND RABGAP1L [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	RABGAP1L(174301187)-UCHL5(193020883), # samples:1 UCHL5(192990227)-RABGAP1L(174340117), # samples:1
Anticipated loss of major functional domain due to fusion event.	UCHL5-RABGAP1L seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. UCHL5-RABGAP1L seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor 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	UCHL5	GO:0016579	protein deubiquitination	18922472
Tgene	RABGAP1L	GO:0032880	regulation of protein localization	16923123

Fusion gene breakpoints across UCHL5 (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 RABGAP1L (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	Non-Cancer	TCGA-IN-8462-11A	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+

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Fusion Gene ORF analysis for UCHL5-RABGAP1L

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
Frame-shift	ENST00000367455	ENST00000367689	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367455	ENST00000357444	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367455	ENST00000251507	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367455	ENST00000325589	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367455	ENST00000367686	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367455	ENST00000367687	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367455	ENST00000347255	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367455	ENST00000489615	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367455	ENST00000478442	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367455	ENST00000486220	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367455	ENST00000392064	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367455	ENST00000367688	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367454	ENST00000367689	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367454	ENST00000357444	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367454	ENST00000251507	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367454	ENST00000325589	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367454	ENST00000367686	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367454	ENST00000367687	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367454	ENST00000347255	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367454	ENST00000489615	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367454	ENST00000478442	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367454	ENST00000486220	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367454	ENST00000392064	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367454	ENST00000367688	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367451	ENST00000367689	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367451	ENST00000357444	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367451	ENST00000251507	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367451	ENST00000325589	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367451	ENST00000367686	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367451	ENST00000367687	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367451	ENST00000347255	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367451	ENST00000489615	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367451	ENST00000478442	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367451	ENST00000486220	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367451	ENST00000392064	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367451	ENST00000367688	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367448	ENST00000367689	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367448	ENST00000357444	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367448	ENST00000251507	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367448	ENST00000325589	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367448	ENST00000367686	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367448	ENST00000367687	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367448	ENST00000347255	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367448	ENST00000489615	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367448	ENST00000478442	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367448	ENST00000486220	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367448	ENST00000392064	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367448	ENST00000367688	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367449	ENST00000367689	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367449	ENST00000357444	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367449	ENST00000251507	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367449	ENST00000325589	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367449	ENST00000367686	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367449	ENST00000367687	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367449	ENST00000347255	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367449	ENST00000489615	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367449	ENST00000478442	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367449	ENST00000486220	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367449	ENST00000392064	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367449	ENST00000367688	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367452	ENST00000367689	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367452	ENST00000357444	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000367452	ENST00000251507	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367452	ENST00000325589	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367452	ENST00000367686	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367452	ENST00000367687	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367452	ENST00000347255	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367452	ENST00000489615	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367452	ENST00000478442	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367452	ENST00000486220	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367452	ENST00000392064	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000367452	ENST00000367688	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000530098	ENST00000367689	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000530098	ENST00000357444	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
Frame-shift	ENST00000530098	ENST00000251507	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000530098	ENST00000325589	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000530098	ENST00000367686	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000530098	ENST00000367687	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000530098	ENST00000347255	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000530098	ENST00000489615	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000530098	ENST00000478442	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000530098	ENST00000486220	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000530098	ENST00000392064	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
5CDS-intron	ENST00000530098	ENST00000367688	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-3CDS	ENST00000483156	ENST00000367689	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-3CDS	ENST00000483156	ENST00000357444	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-3CDS	ENST00000483156	ENST00000251507	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-intron	ENST00000483156	ENST00000325589	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-intron	ENST00000483156	ENST00000367686	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-intron	ENST00000483156	ENST00000367687	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-intron	ENST00000483156	ENST00000347255	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-intron	ENST00000483156	ENST00000489615	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-intron	ENST00000483156	ENST00000478442	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-intron	ENST00000483156	ENST00000486220	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-intron	ENST00000483156	ENST00000392064	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+
intron-intron	ENST00000483156	ENST00000367688	UCHL5	chr1	192990227	-	RABGAP1L	chr1	174340117	+

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 UCHL5-RABGAP1L

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)
UCHL5	chr1	192990226	-	RABGAP1L	chr1	174340116	+	1.44E-10	1
UCHL5	chr1	192990226	-	RABGAP1L	chr1	174340116	+	1.44E-10	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 UCHL5-RABGAP1L

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 UCHL5-RABGAP1L

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 UCHL5-RABGAP1L

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 UCHL5-RABGAP1L

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 UCHL5-RABGAP1L

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	RABGAP1L	C0023893	Liver Cirrhosis, Experimental	1	CTD_human