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:EAF2-RGS9

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: EAF2-RGS9
	FusionPDB ID: 24803
	FusionGDB2.0 ID: 24803
		Hgene	Tgene
	Gene symbol	EAF2	RGS9
	Gene ID	55929	388531
	Gene name	DNA methyltransferase 1 associated protein 1	regulator of G protein signaling 9 binding protein
	Synonyms	DNMAP1\|DNMTAP1\|EAF2\|MEAF2\|SWC4	PERRS\|R9AP\|RGS9
	Cytomap	1p34.1	19q13.11
	Type of gene	protein-coding	protein-coding
	Description	DNA methyltransferase 1-associated protein 1DNMT1 associated protein 1	regulator of G-protein signaling 9-binding proteinRGS9 anchor proteinRGS9-anchoring protein
	Modification date	20200313	20200313
	UniProtAcc	Q96CJ1	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000465664, ENST00000273668, ENST00000451944,	ENST00000262406, ENST00000443584, ENST00000449996, ENST00000577186,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	1 X 2 X 1=2	13 X 16 X 5=1040
	# samples	2	15
	** MAII score	log2(2/2*10)=3.32192809488736	log2(15/1040*10)=-2.79354912253257 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: EAF2 [Title/Abstract] AND RGS9 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	EAF2(121554238)-RGS9(63221120), # samples:3
Anticipated loss of major functional domain due to fusion event.	EAF2-RGS9 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. EAF2-RGS9 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. EAF2-RGS9 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. EAF2-RGS9 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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	EAF2	GO:0000122	negative regulation of transcription by RNA polymerase II	15367675
Hgene	EAF2	GO:0042307	positive regulation of protein import into nucleus	15367675
Hgene	EAF2	GO:0043967	histone H4 acetylation	14966270
Hgene	EAF2	GO:0043968	histone H2A acetylation	14966270

Fusion gene breakpoints across EAF2 (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 RGS9 (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	BRCA	TCGA-AO-A03L-01A	EAF2	chr3	121554237	+	RGS9	chr17	63221119	+
ChimerDB4	BRCA	TCGA-AO-A03L-01A	EAF2	chr3	121554238	-	RGS9	chr17	63221120	+
ChimerDB4	BRCA	TCGA-AO-A03L-01A	EAF2	chr3	121554238	+	RGS9	chr17	63221120	+
ChimerDB4	BRCA	TCGA-AO-A03L	EAF2	chr3	121554238	+	RGS9	chr17	63221119	+

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)
ENST00000273668	EAF2	chr3	121554238	+	ENST00000443584	RGS9	chr17	63221120	+	764	177	649	125	174
ENST00000451944	EAF2	chr3	121554238	+	ENST00000443584	RGS9	chr17	63221120	+	742	155	627	103	174
ENST00000273668	EAF2	chr3	121554238	+	ENST00000443584	RGS9	chr17	63221119	+	764	177	649	125	174
ENST00000451944	EAF2	chr3	121554238	+	ENST00000443584	RGS9	chr17	63221119	+	742	155	627	103	174
ENST00000273668	EAF2	chr3	121554237	+	ENST00000443584	RGS9	chr17	63221119	+	764	177	649	125	174
ENST00000451944	EAF2	chr3	121554237	+	ENST00000443584	RGS9	chr17	63221119	+	742	155	627	103	174

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
ENST00000273668	ENST00000443584	EAF2	chr3	121554238	+	RGS9	chr17	63221120	+	0.81904906	0.18095095
ENST00000451944	ENST00000443584	EAF2	chr3	121554238	+	RGS9	chr17	63221120	+	0.8123056	0.18769439
ENST00000273668	ENST00000443584	EAF2	chr3	121554238	+	RGS9	chr17	63221119	+	0.81904906	0.18095095
ENST00000451944	ENST00000443584	EAF2	chr3	121554238	+	RGS9	chr17	63221119	+	0.8123056	0.18769439
ENST00000273668	ENST00000443584	EAF2	chr3	121554237	+	RGS9	chr17	63221119	+	0.81904906	0.18095095
ENST00000451944	ENST00000443584	EAF2	chr3	121554237	+	RGS9	chr17	63221119	+	0.8123056	0.18769439

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

>24803_24803_1_EAF2-RGS9_EAF2_chr3_121554237_ENST00000273668_RGS9_chr17_63221119_ENST00000443584_length(amino acids)=174AA_BP=1
MDFNRGSCWPTSPRGCTLPWDTAGHLGESLAKTGEARQPRLRNLLKDRAMRALGGALGRLRGQEVSREASLLSVTEGPRGAMDPLHSPFC

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

>24803_24803_2_EAF2-RGS9_EAF2_chr3_121554237_ENST00000451944_RGS9_chr17_63221119_ENST00000443584_length(amino acids)=174AA_BP=1
MDFNRGSCWPTSPRGCTLPWDTAGHLGESLAKTGEARQPRLRNLLKDRAMRALGGALGRLRGQEVSREASLLSVTEGPRGAMDPLHSPFC

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

>24803_24803_3_EAF2-RGS9_EAF2_chr3_121554238_ENST00000273668_RGS9_chr17_63221119_ENST00000443584_length(amino acids)=174AA_BP=1
MDFNRGSCWPTSPRGCTLPWDTAGHLGESLAKTGEARQPRLRNLLKDRAMRALGGALGRLRGQEVSREASLLSVTEGPRGAMDPLHSPFC

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

>24803_24803_4_EAF2-RGS9_EAF2_chr3_121554238_ENST00000273668_RGS9_chr17_63221120_ENST00000443584_length(amino acids)=174AA_BP=1
MDFNRGSCWPTSPRGCTLPWDTAGHLGESLAKTGEARQPRLRNLLKDRAMRALGGALGRLRGQEVSREASLLSVTEGPRGAMDPLHSPFC

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

>24803_24803_5_EAF2-RGS9_EAF2_chr3_121554238_ENST00000451944_RGS9_chr17_63221119_ENST00000443584_length(amino acids)=174AA_BP=1
MDFNRGSCWPTSPRGCTLPWDTAGHLGESLAKTGEARQPRLRNLLKDRAMRALGGALGRLRGQEVSREASLLSVTEGPRGAMDPLHSPFC

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

>24803_24803_6_EAF2-RGS9_EAF2_chr3_121554238_ENST00000451944_RGS9_chr17_63221120_ENST00000443584_length(amino acids)=174AA_BP=1
MDFNRGSCWPTSPRGCTLPWDTAGHLGESLAKTGEARQPRLRNLLKDRAMRALGGALGRLRGQEVSREASLLSVTEGPRGAMDPLHSPFC

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

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/chr3:121554238/chr17:63221120)
- 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
EAF2 Q96CJ1	.
FUNCTION: Acts as a transcriptional transactivator of TCEA1 elongation activity (By similarity). Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. Potent inducer of apoptosis in prostatic and non-prostatic cell lines. Inhibits prostate tumor growth in vivo. {ECO:0000250, ECO:0000269\|PubMed:12446457, ECO:0000269\|PubMed:12907652, ECO:0000269\|PubMed:16006523}.	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

EAF2

chr3:121554237

chr17:63221119

ENST00000273668

126_130

35.333333333333336

261.0

Compositional bias

Note=Poly-Gln

Hgene

EAF2

chr3:121554237

chr17:63221119

ENST00000273668

174_207

35.333333333333336

261.0

Compositional bias

Note=Ser-rich

Hgene

EAF2

chr3:121554238

chr17:63221119

ENST00000273668

126_130

35.333333333333336

261.0

Compositional bias

Note=Poly-Gln

Hgene

EAF2

chr3:121554238

chr17:63221119

ENST00000273668

174_207

35.333333333333336

261.0

Compositional bias

Note=Ser-rich

Hgene

EAF2

chr3:121554238

chr17:63221120

ENST00000273668

126_130

35.333333333333336

261.0

Compositional bias

Note=Poly-Gln

Hgene

EAF2

chr3:121554238

chr17:63221120

ENST00000273668

174_207

35.333333333333336

261.0

Compositional bias

Note=Ser-rich

Hgene

EAF2

chr3:121554237

chr17:63221119

ENST00000273668

177_260

35.333333333333336

261.0

Region

Note=Necessary for transactivation activity

Hgene

EAF2

chr3:121554238

chr17:63221119

ENST00000273668

177_260

35.333333333333336

261.0

Region

Note=Necessary for transactivation activity

Hgene

EAF2

chr3:121554238

chr17:63221120

ENST00000273668

177_260

35.333333333333336

261.0

Region

Note=Necessary for transactivation activity

Tgene

RGS9

chr3:121554237

chr17:63221119

ENST00000262406

219_280

469.0

675.0

Domain

Note=G protein gamma

Tgene

RGS9

chr3:121554237

chr17:63221119

ENST00000262406

298_413

469.0

675.0

Domain

RGS

Tgene

RGS9

chr3:121554237

chr17:63221119

ENST00000262406

30_105

469.0

675.0

Domain

DEP

Tgene

RGS9

chr3:121554237

chr17:63221119

ENST00000449996

219_280

466.0

672.0

Domain

Note=G protein gamma

Tgene

RGS9

chr3:121554237

chr17:63221119

ENST00000449996

298_413

466.0

672.0

Domain

RGS

Tgene

RGS9

chr3:121554237

chr17:63221119

ENST00000449996

30_105

466.0

672.0

Domain

DEP

Tgene

RGS9

chr3:121554238

chr17:63221119

ENST00000262406

219_280

469.0

675.0

Domain

Note=G protein gamma

Tgene

RGS9

chr3:121554238

chr17:63221119

ENST00000262406

298_413

469.0

675.0

Domain

RGS

Tgene

RGS9

chr3:121554238

chr17:63221119

ENST00000262406

30_105

469.0

675.0

Domain

DEP

Tgene

RGS9

chr3:121554238

chr17:63221119

ENST00000449996

219_280

466.0

672.0

Domain

Note=G protein gamma

Tgene

RGS9

chr3:121554238

chr17:63221119

ENST00000449996

298_413

466.0

672.0

Domain

RGS

Tgene

RGS9

chr3:121554238

chr17:63221119

ENST00000449996

30_105

466.0

672.0

Domain

DEP

Tgene

RGS9

chr3:121554238

chr17:63221120

ENST00000262406

219_280

469.0

675.0

Domain

Note=G protein gamma

Tgene

RGS9

chr3:121554238

chr17:63221120

ENST00000262406

298_413

469.0

675.0

Domain

RGS

Tgene

RGS9

chr3:121554238

chr17:63221120

ENST00000262406

30_105

469.0

675.0

Domain

DEP

Tgene

RGS9

chr3:121554238

chr17:63221120

ENST00000449996

219_280

466.0

672.0

Domain

Note=G protein gamma

Tgene

RGS9

chr3:121554238

chr17:63221120

ENST00000449996

298_413

466.0

672.0

Domain

RGS

Tgene

RGS9

chr3:121554238

chr17:63221120

ENST00000449996

30_105

466.0

672.0

Domain

DEP

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
EAF2
RGS9

- 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 EAF2-RGS9

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to EAF2-RGS9

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