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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:PDE4DIP-UBE2K (FusionGDB2 ID:63741)

Fusion Gene Summary for PDE4DIP-UBE2K

Fusion gene summary

Fusion gene information	Fusion gene name: PDE4DIP-UBE2K
	Fusion gene ID: 63741
		Hgene	Tgene
	Gene symbol	PDE4DIP	UBE2K
	Gene ID	9659	3093
	Gene name	phosphodiesterase 4D interacting protein	ubiquitin conjugating enzyme E2 K
	Synonyms	CMYA2\|MMGL	E2-25K\|HIP2\|HYPG\|LIG\|UBC1
	Cytomap	1q21.2	4p14
	Type of gene	protein-coding	protein-coding
	Description	myomegalincardiomyopathy-associated protein 2myomegalin/phosphodiesterase 4D interacting protein variant 8	ubiquitin-conjugating enzyme E2 KE2 ubiquitin-conjugating enzyme KE2(25K)HIP-2huntingtin-interacting protein 2ubiquitin carrier proteinubiquitin conjugating enzyme E2Kubiquitin-conjugating enzyme E2(25K)ubiquitin-conjugating enzyme E2-25 KDAubiqu
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000313382, ENST00000369349, ENST00000369351, ENST00000369354, ENST00000369356, ENST00000369359, ENST00000530740, ENST00000313431, ENST00000369345, ENST00000369347, ENST00000369348, ENST00000478649, ENST00000479408, ENST00000493130, ENST00000524974, ENST00000529945,	ENST00000438068, ENST00000445950, ENST00000503368, ENST00000295963, ENST00000261427,
Fusion gene scores	* DoF score	9 X 9 X 7=567	17 X 12 X 8=1632
	# samples	9	18
	** MAII score	log2(9/567*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(18/1632*10)=-3.18057224564182 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PDE4DIP [Title/Abstract] AND UBE2K [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	PDE4DIP(144946625)-UBE2K(39776454), # samples:1
Anticipated loss of major functional domain due to fusion event.	PDE4DIP-UBE2K seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. PDE4DIP-UBE2K seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. PDE4DIP-UBE2K seems lost the major protein functional domain in Tgene partner, which is a essential gene 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	PDE4DIP	GO:1903358	regulation of Golgi organization	27666745
Tgene	UBE2K	GO:0010800	positive regulation of peptidyl-threonine phosphorylation	24882218
Tgene	UBE2K	GO:0010994	free ubiquitin chain polymerization	24882218
Tgene	UBE2K	GO:0070936	protein K48-linked ubiquitination	20061386

Fusion gene breakpoints across PDE4DIP (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 UBE2K (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	ERR315447	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+

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Fusion Gene ORF analysis for PDE4DIP-UBE2K

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-3UTR	ENST00000313382	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000313382	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000313382	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369349	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369349	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369349	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369351	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369351	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369351	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369354	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369354	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369354	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369356	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369356	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369356	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369359	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369359	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000369359	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000530740	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000530740	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-3UTR	ENST00000530740	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-intron	ENST00000313382	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-intron	ENST00000369349	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-intron	ENST00000369351	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-intron	ENST00000369354	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-intron	ENST00000369356	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-intron	ENST00000369359	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
5CDS-intron	ENST00000530740	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
Frame-shift	ENST00000313382	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
Frame-shift	ENST00000369349	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
Frame-shift	ENST00000369351	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
Frame-shift	ENST00000369354	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
Frame-shift	ENST00000369356	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
Frame-shift	ENST00000369359	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
Frame-shift	ENST00000530740	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3CDS	ENST00000313431	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3CDS	ENST00000369345	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3CDS	ENST00000369347	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3CDS	ENST00000369348	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3CDS	ENST00000478649	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3CDS	ENST00000479408	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3CDS	ENST00000493130	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3CDS	ENST00000524974	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3CDS	ENST00000529945	ENST00000261427	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000313431	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000313431	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000313431	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000369345	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000369345	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000369345	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000369347	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000369347	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000369347	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000369348	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000369348	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000369348	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000478649	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000478649	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000478649	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000479408	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000479408	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000479408	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000493130	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000493130	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000493130	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000524974	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000524974	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000524974	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000529945	ENST00000438068	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000529945	ENST00000445950	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-3UTR	ENST00000529945	ENST00000503368	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-intron	ENST00000313431	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-intron	ENST00000369345	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-intron	ENST00000369347	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-intron	ENST00000369348	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-intron	ENST00000478649	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-intron	ENST00000479408	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-intron	ENST00000493130	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-intron	ENST00000524974	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+
intron-intron	ENST00000529945	ENST00000295963	PDE4DIP	chr1	144946625	-	UBE2K	chr4	39776454	+

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 PDE4DIP-UBE2K

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)
PDE4DIP	chr1	144946624	-	UBE2K	chr4	39776453	+	4.22E-09	1
PDE4DIP	chr1	144946624	-	UBE2K	chr4	39776453	+	4.22E-09	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 PDE4DIP-UBE2K

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:144946625/:39776454)
- 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
.	.
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: 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}.

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 PDE4DIP-UBE2K

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 PDE4DIP-UBE2K

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 PDE4DIP-UBE2K

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 PDE4DIP-UBE2K

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source