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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:MAST3-EHMT2 (FusionGDB2 ID:51844)

Fusion Gene Summary for MAST3-EHMT2

Fusion gene summary

Fusion gene information	Fusion gene name: MAST3-EHMT2
	Fusion gene ID: 51844
		Hgene	Tgene
	Gene symbol	MAST3	EHMT2
	Gene ID	23031	10919
	Gene name	microtubule associated serine/threonine kinase 3	euchromatic histone lysine methyltransferase 2
	Synonyms	-	BAT8\|C6orf30\|G9A\|GAT8\|KMT1C\|NG36
	Cytomap	19p13.11	6p21.33
	Type of gene	protein-coding	protein-coding
	Description	microtubule-associated serine/threonine-protein kinase 3	histone-lysine N-methyltransferase EHMT2G9A histone methyltransferaseH3-K9-HMTase 3HLA-B associated transcript 8ankyrin repeat-containing proteineuchromatic histone-lysine N-methyltransferase 2histone H3-K9 methyltransferase 3histone-lysine N-methy
	Modification date	20200313	20200329
	UniProtAcc	O60307	Q96KQ7
	Ensembl transtripts involved in fusion gene	ENST00000262811, ENST00000608648,	ENST00000375528, ENST00000375530, ENST00000375537, ENST00000395728, ENST00000480912, ENST00000383372, ENST00000383373, ENST00000400006, ENST00000400008, ENST00000415323, ENST00000420336, ENST00000420874, ENST00000420930, ENST00000421926, ENST00000425250, ENST00000427405, ENST00000428442, ENST00000429506, ENST00000436403, ENST00000440987, ENST00000443951, ENST00000446303, ENST00000450075, ENST00000450229, ENST00000450323, ENST00000454705, ENST00000467139, ENST00000469681, ENST00000487513, ENST00000497104, ENST00000497361, ENST00000498185, ENST00000546877, ENST00000547244, ENST00000550866, ENST00000551865, ENST00000552339,
Fusion gene scores	* DoF score	5 X 4 X 5=100	7 X 8 X 4=224
	# samples	5	7
	** MAII score	log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/224*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MAST3 [Title/Abstract] AND EHMT2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MAST3(18228513)-EHMT2(31848540), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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	EHMT2	GO:0000122	negative regulation of transcription by RNA polymerase II	19144645
Tgene	EHMT2	GO:0009267	cellular response to starvation	23918802
Tgene	EHMT2	GO:0018027	peptidyl-lysine dimethylation	20118233
Tgene	EHMT2	GO:0034968	histone lysine methylation	19144645

Fusion gene breakpoints across MAST3 (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 EHMT2 (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
ChiTaRS5.0	N/A	BF873412	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+

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Fusion Gene ORF analysis for MAST3-EHMT2

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
intron-5UTR	ENST00000262811	ENST00000375528	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-5UTR	ENST00000262811	ENST00000375530	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-5UTR	ENST00000262811	ENST00000375537	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-5UTR	ENST00000262811	ENST00000395728	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-5UTR	ENST00000262811	ENST00000480912	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-5UTR	ENST00000608648	ENST00000375528	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-5UTR	ENST00000608648	ENST00000375530	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-5UTR	ENST00000608648	ENST00000375537	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-5UTR	ENST00000608648	ENST00000395728	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-5UTR	ENST00000608648	ENST00000480912	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000383372	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000383373	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000400006	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000400008	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000415323	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000420336	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000420874	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000420930	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000421926	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000425250	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000427405	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000428442	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000429506	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000436403	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000440987	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000443951	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000446303	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000450075	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000450229	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000450323	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000454705	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000467139	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000469681	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000487513	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000497104	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000497361	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000498185	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000546877	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000547244	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000550866	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000551865	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000262811	ENST00000552339	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000383372	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000383373	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000400006	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000400008	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000415323	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000420336	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000420874	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000420930	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000421926	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000425250	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000427405	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000428442	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000429506	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000436403	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000440987	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000443951	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000446303	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000450075	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000450229	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000450323	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000454705	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000467139	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000469681	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000487513	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000497104	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000497361	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000498185	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000546877	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000547244	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000550866	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000551865	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+
intron-intron	ENST00000608648	ENST00000552339	MAST3	chr19	18228513	+	EHMT2	chr6	31848540	+

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 MAST3-EHMT2

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)

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 MAST3-EHMT2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:18228513/:31848540)
- 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
MAST3 O60307	EHMT2 Q96KQ7
	FUNCTION: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of 'Lys-56' of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1, HDAC1, ERCC6, KLF12 and itself. {ECO:0000269\|PubMed:11316813, ECO:0000269\|PubMed:18438403, ECO:0000269\|PubMed:20084102, ECO:0000269\|PubMed:20118233, ECO:0000269\|PubMed:22387026, ECO:0000269\|PubMed:8457211}.

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 MAST3-EHMT2

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 MAST3-EHMT2

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 MAST3-EHMT2

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 MAST3-EHMT2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source