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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:EZH2-AUTS2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: EZH2-AUTS2
	FusionPDB ID: 28101
	FusionGDB2.0 ID: 28101
		Hgene	Tgene
	Gene symbol	EZH2	AUTS2
	Gene ID	2146	26053
	Gene name	enhancer of zeste 2 polycomb repressive complex 2 subunit	activator of transcription and developmental regulator AUTS2
	Synonyms	ENX-1\|ENX1\|EZH2b\|KMT6\|KMT6A\|WVS\|WVS2	FBRSL2\|MRD26
	Cytomap	7q36.1	7q11.22
	Type of gene	protein-coding	protein-coding
	Description	histone-lysine N-methyltransferase EZH2enhancer of zeste homolog 2lysine N-methyltransferase 6	autism susceptibility gene 2 proteinAUTS2, activator of transcription and developmental regulatorautism susceptibility candidate 2autism-related protein 1
	Modification date	20200329	20200313
	UniProtAcc	Q15910	Q8WXX7
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000320356, ENST00000350995, ENST00000460911, ENST00000476773, ENST00000478654, ENST00000483967, ENST00000541220, ENST00000536783,	ENST00000403018, ENST00000489774, ENST00000342771, ENST00000406775,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	9 X 9 X 5=405	25 X 24 X 10=6000
	# samples	9	27
	** MAII score	log2(9/405*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(27/6000*10)=-4.47393118833241 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: EZH2 [Title/Abstract] AND AUTS2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	EZH2(148543589)-AUTS2(70227856), # samples:2
Anticipated loss of major functional domain due to fusion event.	EZH2-AUTS2 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. EZH2-AUTS2 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. EZH2-AUTS2 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. EZH2-AUTS2 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. EZH2-AUTS2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. EZH2-AUTS2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. EZH2-AUTS2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. EZH2-AUTS2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. EZH2-AUTS2 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	EZH2	GO:0000122	negative regulation of transcription by RNA polymerase II	20154697
Hgene	EZH2	GO:0010718	positive regulation of epithelial to mesenchymal transition	20154697
Hgene	EZH2	GO:0043406	positive regulation of MAP kinase activity	20154697
Hgene	EZH2	GO:0043547	positive regulation of GTPase activity	20154697
Hgene	EZH2	GO:0045814	negative regulation of gene expression, epigenetic	20154697
Hgene	EZH2	GO:0070734	histone H3-K27 methylation	24474760
Hgene	EZH2	GO:0071902	positive regulation of protein serine/threonine kinase activity	20154697
Tgene	AUTS2	GO:0045944	positive regulation of transcription by RNA polymerase II	25519132
Tgene	AUTS2	GO:0051571	positive regulation of histone H3-K4 methylation	25519132
Tgene	AUTS2	GO:2000620	positive regulation of histone H4-K16 acetylation	25519132

Fusion gene breakpoints across EZH2 (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 AUTS2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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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	LUSC	TCGA-34-5928-01A	EZH2	chr7	148543562	-	AUTS2	chr7	70227856	+
ChimerDB4	LUSC	TCGA-34-5928-01A	EZH2	chr7	148543589	-	AUTS2	chr7	70227856	+
ChimerDB4	LUSC	TCGA-34-5928	EZH2	chr7	148543589	-	AUTS2	chr7	70227856	+

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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)
ENST00000478654	EZH2	chr7	148543589	-	ENST00000406775	AUTS2	chr7	70227856	+	4864	391	348	3356	1002
ENST00000478654	EZH2	chr7	148543589	-	ENST00000342771	AUTS2	chr7	70227856	+	5501	391	348	3428	1026
ENST00000476773	EZH2	chr7	148543589	-	ENST00000406775	AUTS2	chr7	70227856	+	5012	539	496	3504	1002
ENST00000476773	EZH2	chr7	148543589	-	ENST00000342771	AUTS2	chr7	70227856	+	5649	539	496	3576	1026

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
ENST00000478654	ENST00000406775	EZH2	chr7	148543589	-	AUTS2	chr7	70227856	+	0.002439366	0.9975606
ENST00000478654	ENST00000342771	EZH2	chr7	148543589	-	AUTS2	chr7	70227856	+	0.002201136	0.99779886
ENST00000476773	ENST00000406775	EZH2	chr7	148543589	-	AUTS2	chr7	70227856	+	0.002693248	0.9973067
ENST00000476773	ENST00000342771	EZH2	chr7	148543589	-	AUTS2	chr7	70227856	+	0.002646036	0.99735403

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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

>28101_28101_1_EZH2-AUTS2_EZH2_chr7_148543589_ENST00000476773_AUTS2_chr7_70227856_ENST00000342771_length(amino acids)=1026AA_BP=15
METAKDTACAHPDFYPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCPQVAQPIPQPQTEPQLRAPSPDPD
LVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQRPPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPA
KTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSEQDILRQELNTRFL
ASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPM
IPPTGPFGSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLK
PEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNS
MFGHKDGPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHSSHPSPAPVLPV
NALGHTRSSTEQIRAHLNTEAREKDKPKERERDHSESRKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESAR
PNSTSSREAEPRKGEPAYENPKKSSEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLASMPMTVGVTGIHPMNSISSLDRT
RMMTPFMGISPLPGGERFPYPSFHWDPIRDPLRDPYRELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHH
PLSVDPRREHERGGHLDERERLHMLREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPTAGNQNGLLNKTPPTAALSAPPPL

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

>28101_28101_2_EZH2-AUTS2_EZH2_chr7_148543589_ENST00000476773_AUTS2_chr7_70227856_ENST00000406775_length(amino acids)=1002AA_BP=15
METAKDTACAHPDFYPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCPQVAQPIPQPQTEPQLRAPSPDPD
LVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQRPPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPA
KTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSEQDILRQELNTRFL
ASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPM
IPPTGPFGSLQGAFQPKLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLAR
PSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSMFGHKDGPSVQNFSNPHEPWNRLH
RTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHSSHPSPAPVLPVNALGHTRSSTEQIRAHLNTEAREK
DKPKERERDHSESRKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESARPNSTSSREAEPRKGEPAYENPKKS
SEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLASMPMTVGVTGIHPMNSISSLDRTRMMTPFMGISPLPGGERFPYPSFH
WDPIRDPLRDPYRELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLSVDPRREHERGGHLDERERLHM
LREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPTAGNQNGLLNKTPPTAALSAPPPLISTLGGRPVSPRRTTPLSAEIRER

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

>28101_28101_3_EZH2-AUTS2_EZH2_chr7_148543589_ENST00000478654_AUTS2_chr7_70227856_ENST00000342771_length(amino acids)=1026AA_BP=15
METAKDTACAHPDFYPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCPQVAQPIPQPQTEPQLRAPSPDPD
LVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQRPPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPA
KTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSEQDILRQELNTRFL
ASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPM
IPPTGPFGSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLK
PEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNS
MFGHKDGPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHSSHPSPAPVLPV
NALGHTRSSTEQIRAHLNTEAREKDKPKERERDHSESRKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESAR
PNSTSSREAEPRKGEPAYENPKKSSEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLASMPMTVGVTGIHPMNSISSLDRT
RMMTPFMGISPLPGGERFPYPSFHWDPIRDPLRDPYRELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHH
PLSVDPRREHERGGHLDERERLHMLREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPTAGNQNGLLNKTPPTAALSAPPPL

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

>28101_28101_4_EZH2-AUTS2_EZH2_chr7_148543589_ENST00000478654_AUTS2_chr7_70227856_ENST00000406775_length(amino acids)=1002AA_BP=15
METAKDTACAHPDFYPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCPQVAQPIPQPQTEPQLRAPSPDPD
LVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQRPPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPA
KTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSEQDILRQELNTRFL
ASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPM
IPPTGPFGSLQGAFQPKLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLAR
PSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSMFGHKDGPSVQNFSNPHEPWNRLH
RTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHSSHPSPAPVLPVNALGHTRSSTEQIRAHLNTEAREK
DKPKERERDHSESRKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESARPNSTSSREAEPRKGEPAYENPKKS
SEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLASMPMTVGVTGIHPMNSISSLDRTRMMTPFMGISPLPGGERFPYPSFH
WDPIRDPLRDPYRELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLSVDPRREHERGGHLDERERLHM
LREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPTAGNQNGLLNKTPPTAALSAPPPLISTLGGRPVSPRRTTPLSAEIRER

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

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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/chr7:148543589/chr7:70227856)
- 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
EZH2 Q15910	AUTS2 Q8WXX7
FUNCTION: Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) 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. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599, PubMed:30923826). Compared to EZH1-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of 'Lys-27' of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription. {ECO:0000269\|PubMed:14532106, ECO:0000269\|PubMed:15225548, ECO:0000269\|PubMed:15231737, ECO:0000269\|PubMed:15385962, ECO:0000269\|PubMed:16179254, ECO:0000269\|PubMed:16357870, ECO:0000269\|PubMed:16618801, ECO:0000269\|PubMed:16717091, ECO:0000269\|PubMed:16936726, ECO:0000269\|PubMed:17210787, ECO:0000269\|PubMed:17344414, ECO:0000269\|PubMed:18285464, ECO:0000269\|PubMed:19026781, ECO:0000269\|PubMed:20935635, ECO:0000269\|PubMed:22323599, ECO:0000269\|PubMed:23063525, ECO:0000269\|PubMed:24474760, ECO:0000269\|PubMed:30923826}.	FUNCTION: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity). {ECO:0000250\|UniProtKB:A0A087WPF7, ECO:0000269\|PubMed:25519132}.

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

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000342771

1122_1181

247.33333333333334

1260.0

Compositional bias

His-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000342771

288_471

247.33333333333334

1260.0

Compositional bias

Pro-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000342771

525_548

247.33333333333334

1260.0

Compositional bias

His-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000342771

545_646

247.33333333333334

1260.0

Compositional bias

Pro-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000403018

1122_1181

267.0

Compositional bias

His-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000403018

288_471

267.0

Compositional bias

Pro-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000403018

525_548

267.0

Compositional bias

His-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000403018

545_646

267.0

Compositional bias

Pro-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000406775

1122_1181

247.33333333333334

1236.0

Compositional bias

His-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000406775

288_471

247.33333333333334

1236.0

Compositional bias

Pro-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000406775

525_548

247.33333333333334

1236.0

Compositional bias

His-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000406775

545_646

247.33333333333334

1236.0

Compositional bias

Pro-rich

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000342771

289_472

247.33333333333334

1260.0

Region

Important for regulation of lamellipodia formation

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000403018

289_472

267.0

Region

Important for regulation of lamellipodia formation

Tgene

AUTS2

chr7:148543589

chr7:70227856

ENST00000406775

289_472

247.33333333333334

1236.0

Region

Important for regulation of lamellipodia formation

- 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

EZH2

chr7:148543589

chr7:70227856

ENST00000320356

523_605

752.0

Compositional bias

Note=Cys-rich

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000350995

523_605

708.0

Compositional bias

Note=Cys-rich

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000460911

523_605

747.0

Compositional bias

Note=Cys-rich

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000476773

523_605

73.0

696.0

Compositional bias

Note=Cys-rich

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000478654

523_605

73.0

696.0

Compositional bias

Note=Cys-rich

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000483967

523_605

73.0

738.0

Compositional bias

Note=Cys-rich

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000541220

523_605

73.0

696.0

Compositional bias

Note=Cys-rich

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000320356

503_605

752.0

Domain

CXC

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000320356

612_727

752.0

Domain

SET

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000350995

503_605

708.0

Domain

CXC

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000350995

612_727

708.0

Domain

SET

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000460911

503_605

747.0

Domain

CXC

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000460911

612_727

747.0

Domain

SET

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000476773

503_605

73.0

696.0

Domain

CXC

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000476773

612_727

73.0

696.0

Domain

SET

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000478654

503_605

73.0

696.0

Domain

CXC

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000478654

612_727

73.0

696.0

Domain

SET

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000483967

503_605

73.0

738.0

Domain

CXC

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000483967

612_727

73.0

738.0

Domain

SET

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000541220

503_605

73.0

696.0

Domain

CXC

Hgene

EZH2

chr7:148543589

chr7:70227856

ENST00000541220

612_727

73.0

696.0

Domain

SET

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1808_EZH2_148543589_AUTS2_70227856_ranked_0.pdb	EZH2	148543589	148543589	ENST00000342771	AUTS2	chr7	70227856	+	METAKDTACAHPDFYPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCPQVAQPIPQPQTEPQLRAPSPDPD LVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQRPPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPA KTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSEQDILRQELNTRFL ASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPM IPPTGPFGSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLK PEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNS MFGHKDGPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHSSHPSPAPVLPV NALGHTRSSTEQIRAHLNTEAREKDKPKERERDHSESRKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESAR PNSTSSREAEPRKGEPAYENPKKSSEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLASMPMTVGVTGIHPMNSISSLDRT RMMTPFMGISPLPGGERFPYPSFHWDPIRDPLRDPYRELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHH PLSVDPRREHERGGHLDERERLHMLREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPTAGNQNGLLNKTPPTAALSAPPPL	1026

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

EZH2_pLDDT.png

AUTS2_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
EZH2
AUTS2

- 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
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000320356	-	1	20	329_522	0	752.0	CDYL
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000350995	-	1	19	329_522	0	708.0	CDYL
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000460911	-	1	20	329_522	0	747.0	CDYL
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000476773	-	3	19	329_522	73.0	696.0	CDYL
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000478654	-	4	20	329_522	73.0	696.0	CDYL
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000483967	-	3	20	329_522	73.0	738.0	CDYL
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000541220	-	3	19	329_522	73.0	696.0	CDYL
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000320356	-	1	20	1_340	0	752.0	DNMT1%2C DNMT3A and DNMT3B
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000350995	-	1	19	1_340	0	708.0	DNMT1%2C DNMT3A and DNMT3B
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000460911	-	1	20	1_340	0	747.0	DNMT1%2C DNMT3A and DNMT3B
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000476773	-	3	19	1_340	73.0	696.0	DNMT1%2C DNMT3A and DNMT3B
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000478654	-	4	20	1_340	73.0	696.0	DNMT1%2C DNMT3A and DNMT3B
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000483967	-	3	20	1_340	73.0	738.0	DNMT1%2C DNMT3A and DNMT3B
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000541220	-	3	19	1_340	73.0	696.0	DNMT1%2C DNMT3A and DNMT3B
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000320356	-	1	20	39_68	0	752.0	EED
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000350995	-	1	19	39_68	0	708.0	EED
Hgene	EZH2	chr7:148543589	chr7:70227856	ENST00000460911	-	1	20	39_68	0	747.0	EED

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Related Drugs to EZH2-AUTS2

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

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to EZH2-AUTS2

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