UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level1

	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:EZH1-PDSS2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: EZH1-PDSS2
	FusionPDB ID: 28095
	FusionGDB2.0 ID: 28095
		Hgene	Tgene
	Gene symbol	EZH1	PDSS2
	Gene ID	2145	57107
	Gene name	enhancer of zeste 1 polycomb repressive complex 2 subunit	decaprenyl diphosphate synthase subunit 2
	Synonyms	KMT6B	C6orf210\|COQ10D3\|COQ1B\|DLP1\|bA59I9.3\|hDLP1
	Cytomap	17q21.2	6q21
	Type of gene	protein-coding	protein-coding
	Description	histone-lysine N-methyltransferase EZH1ENX-2enhancer of zeste homolog 1	decaprenyl-diphosphate synthase subunit 2all-trans-decaprenyl-diphosphate synthase subunit 2decaprenyl pyrophosphate synthase subunit 2decaprenyl pyrophosphate synthetase subunit 2prenyl (decaprenyl) diphosphate synthase, subunit 2subunit 2 of decapr
	Modification date	20200315	20200313
	UniProtAcc	Q92800	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000435174, ENST00000590078, ENST00000592743, ENST00000428826, ENST00000585893, ENST00000415827, ENST00000590783,	ENST00000369031, ENST00000369037, ENST00000453874,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	8 X 12 X 6=576	9 X 7 X 6=378
	# samples	12	10
	** MAII score	log2(12/576*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/378*10)=-1.91838623444635 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: EZH1 [Title/Abstract] AND PDSS2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	EZH1(40879653)-PDSS2(107595431), # samples:3
Anticipated loss of major functional domain due to fusion event.	EZH1-PDSS2 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. EZH1-PDSS2 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. EZH1-PDSS2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. EZH1-PDSS2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. EZH1-PDSS2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. EZH1-PDSS2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. EZH1-PDSS2 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
Tgene	PDSS2	GO:0006744	ubiquinone biosynthetic process	16262699
Tgene	PDSS2	GO:0008299	isoprenoid biosynthetic process	16262699

Fusion gene breakpoints across EZH1 (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 PDSS2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

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	PCPG	TCGA-WB-A81F-01A	EZH1	chr17	40879653	-	PDSS2	chr6	107595431	-

Top

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)
ENST00000428826	EZH1	chr17	40879653	-	ENST00000369037	PDSS2	chr6	107595431	-	3199	368	378	1136	252
ENST00000428826	EZH1	chr17	40879653	-	ENST00000453874	PDSS2	chr6	107595431	-	1004	368	378	830	150
ENST00000428826	EZH1	chr17	40879653	-	ENST00000369031	PDSS2	chr6	107595431	-	894	368	122	445	107
ENST00000585893	EZH1	chr17	40879653	-	ENST00000369037	PDSS2	chr6	107595431	-	3200	369	379	1137	252
ENST00000585893	EZH1	chr17	40879653	-	ENST00000453874	PDSS2	chr6	107595431	-	1005	369	379	831	150
ENST00000585893	EZH1	chr17	40879653	-	ENST00000369031	PDSS2	chr6	107595431	-	895	369	123	446	107

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
ENST00000428826	ENST00000369037	EZH1	chr17	40879653	-	PDSS2	chr6	107595431	-	0.000775772	0.9992242
ENST00000428826	ENST00000453874	EZH1	chr17	40879653	-	PDSS2	chr6	107595431	-	0.007470703	0.9925292
ENST00000428826	ENST00000369031	EZH1	chr17	40879653	-	PDSS2	chr6	107595431	-	0.18005739	0.8199426
ENST00000585893	ENST00000369037	EZH1	chr17	40879653	-	PDSS2	chr6	107595431	-	0.000775802	0.9992242
ENST00000585893	ENST00000453874	EZH1	chr17	40879653	-	PDSS2	chr6	107595431	-	0.007753035	0.992247
ENST00000585893	ENST00000369031	EZH1	chr17	40879653	-	PDSS2	chr6	107595431	-	0.18526325	0.8147368

Top

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

>28095_28095_1_EZH1-PDSS2_EZH1_chr17_40879653_ENST00000428826_PDSS2_chr6_107595431_ENST00000369031_length(amino acids)=107AA_BP=82
MEIPNPPTSKCITYWKRKVKSEYMRLRQLKRLQANMGAKALYVANFAKVQEKTQILNEEWKKLRVQPVQSMKPVSGHPFLKKSKKFGRDH

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

>28095_28095_2_EZH1-PDSS2_EZH1_chr17_40879653_ENST00000428826_PDSS2_chr6_107595431_ENST00000369037_length(amino acids)=252AA_BP=
MAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESY
ITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLGR

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

>28095_28095_3_EZH1-PDSS2_EZH1_chr17_40879653_ENST00000428826_PDSS2_chr6_107595431_ENST00000453874_length(amino acids)=150AA_BP=
MAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKAQE

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

>28095_28095_4_EZH1-PDSS2_EZH1_chr17_40879653_ENST00000585893_PDSS2_chr6_107595431_ENST00000369031_length(amino acids)=107AA_BP=82
MEIPNPPTSKCITYWKRKVKSEYMRLRQLKRLQANMGAKALYVANFAKVQEKTQILNEEWKKLRVQPVQSMKPVSGHPFLKKSKKFGRDH

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

>28095_28095_5_EZH1-PDSS2_EZH1_chr17_40879653_ENST00000585893_PDSS2_chr6_107595431_ENST00000369037_length(amino acids)=252AA_BP=
MAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESY
ITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLGR

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

>28095_28095_6_EZH1-PDSS2_EZH1_chr17_40879653_ENST00000585893_PDSS2_chr6_107595431_ENST00000453874_length(amino acids)=150AA_BP=
MAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKAQE

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

Top

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/chr17:40879653/chr6:107595431)
- 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
EZH1 Q92800	.
FUNCTION: Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. {ECO:0000269\|PubMed:19026781}.	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

EZH1

chr17:40879653

chr6:107595431

ENST00000428826

524_606

82.0

748.0

Compositional bias

Note=Cys-rich

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000435174

524_606

23.333333333333332

609.0

Compositional bias

Note=Cys-rich

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000585893

524_606

82.0

708.0

Compositional bias

Note=Cys-rich

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000590078

524_606

12.0

678.0

Compositional bias

Note=Cys-rich

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000592743

524_606

82.0

748.0

Compositional bias

Note=Cys-rich

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000428826

504_606

82.0

748.0

Domain

CXC

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000428826

613_728

82.0

748.0

Domain

SET

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000435174

504_606

23.333333333333332

609.0

Domain

CXC

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000435174

613_728

23.333333333333332

609.0

Domain

SET

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000585893

504_606

82.0

708.0

Domain

CXC

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000585893

613_728

82.0

708.0

Domain

SET

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000590078

504_606

12.0

678.0

Domain

CXC

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000590078

613_728

12.0

678.0

Domain

SET

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000592743

504_606

82.0

748.0

Domain

CXC

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000592743

613_728

82.0

748.0

Domain

SET

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000428826

491_496

82.0

748.0

Motif

Nuclear localization signal

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000435174

491_496

23.333333333333332

609.0

Motif

Nuclear localization signal

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000585893

491_496

82.0

708.0

Motif

Nuclear localization signal

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000590078

491_496

12.0

678.0

Motif

Nuclear localization signal

Hgene

EZH1

chr17:40879653

chr6:107595431

ENST00000592743

491_496

82.0

748.0

Motif

Nuclear localization signal

Top

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
EZH1
PDSS2

- 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

Top

Related Drugs to EZH1-PDSS2

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to EZH1-PDSS2

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