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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:MRPS6-MYO3A (FusionGDB2 ID:54899)

Fusion Gene Summary for MRPS6-MYO3A

Fusion gene summary

Fusion gene information	Fusion gene name: MRPS6-MYO3A
	Fusion gene ID: 54899
		Hgene	Tgene
	Gene symbol	MRPS6	MYO3A
	Gene ID	64968	53904
	Gene name	mitochondrial ribosomal protein S6	myosin IIIA
	Synonyms	C21orf101\|MRP-S6\|RPMS6\|S6mt	DFNB30
	Cytomap	21q22.11	10p12.1
	Type of gene	protein-coding	protein-coding
	Description	28S ribosomal protein S6, mitochondrialmitochondrial small ribosomal subunit protein bS6m	myosin-IIIaepididymis secretory sperm binding protein
	Modification date	20200313	20200320
	UniProtAcc	P82932	.
	Ensembl transtripts involved in fusion gene	ENST00000399312, ENST00000482679,	ENST00000265944, ENST00000543632, ENST00000376302, ENST00000376301, ENST00000478093,
Fusion gene scores	* DoF score	7 X 6 X 5=210	2 X 1 X 1=2
	# samples	7	1
	** MAII score	log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(1/2*10)=2.32192809488736
Context	PubMed: MRPS6 [Title/Abstract] AND MYO3A [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MRPS6(35446045)-MYO3A(26490194), # samples:2
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	MYO3A	GO:0046777	protein autophosphorylation	12672820

Fusion gene breakpoints across MRPS6 (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 MYO3A (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	HNSC	TCGA-CV-6948-01A	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
ChimerDB4	HNSC	TCGA-CV-6948	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+

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Fusion Gene ORF analysis for MRPS6-MYO3A

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
In-frame	ENST00000399312	ENST00000265944	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
5CDS-intron	ENST00000399312	ENST00000543632	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
5CDS-intron	ENST00000399312	ENST00000376302	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
5CDS-intron	ENST00000399312	ENST00000376301	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
5CDS-intron	ENST00000399312	ENST00000478093	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
intron-3CDS	ENST00000482679	ENST00000265944	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
intron-intron	ENST00000482679	ENST00000543632	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
intron-intron	ENST00000482679	ENST00000376302	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
intron-intron	ENST00000482679	ENST00000376301	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+
intron-intron	ENST00000482679	ENST00000478093	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+

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)

ENST00000399312

MRPS6

chr21

35446045

ENST00000265944

MYO3A

chr10

26490194

1093

223

103

528

141

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
ENST00000399312	ENST00000265944	MRPS6	chr21	35446045	+	MYO3A	chr10	26490194	+	0.026433475	0.9735665

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Fusion Genomic Features for MRPS6-MYO3A

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 MRPS6-MYO3A

Go to
FGviewer for the breakpoints of chr21:35446045-chr10:26490194
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
MRPS6 P82932	.
	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.

- 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

Tgene

MYO3A

chr21:35446045

chr10:26490194

ENST00000265944

1055_1084

1515.0

1617.0

Domain

IQ 1

Tgene

MYO3A

chr21:35446045

chr10:26490194

ENST00000265944

1082_1111

1515.0

1617.0

Domain

IQ 2

Tgene

MYO3A

chr21:35446045

chr10:26490194

ENST00000265944

1346_1375

1515.0

1617.0

Domain

IQ 3

Tgene

MYO3A

chr21:35446045

chr10:26490194

ENST00000265944

21_287

1515.0

1617.0

Domain

Protein kinase

Tgene

MYO3A

chr21:35446045

chr10:26490194

ENST00000265944

338_1053

1515.0

1617.0

Domain

Myosin motor

Tgene

MYO3A

chr21:35446045

chr10:26490194

ENST00000265944

27_35

1515.0

1617.0

Nucleotide binding

ATP

Tgene

MYO3A

chr21:35446045

chr10:26490194

ENST00000265944

934_956

1515.0

1617.0

Region

Actin-binding

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Fusion Gene Sequence for MRPS6-MYO3A

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.

>In-frame_ENST00000399312_ENST00000265944_TCGA-CV-6948-01A_MRPS6_chr21_35446045_+_MYO3A_chr10_26490194_length(transcript)=1093nt_BP=223nt
CGGCGTCTGCGCAGCTGCCAGCGCCTTTAAGCCCGGGCTCGCGCTCTCGGACCGTGCTTTCGCCGCCTGGGAGCCGTCCGGCGCAGCAGT
TTCTAGGTCCCCACTGTCCCCGCCGTCCCGCCCCTTCGCGTCCCGGGAACCGGCTGGCTTCCGAGCCGCACTCGCCGATCCTCCAGGCAT
GCCCCGCTACGAGCTGGCTTTAATCCTGAAAGCCATGCAGCGGAAGTCAATCCAAGAAGAAAAACGAAGACCAAGGAAAGACAGTCAGGG
AAAATTATTAGATTTGGAAGATTTCTATTATAAGGAATTTTTGCCCAGTCGTTCTGGACCAAAGGAACATAGCCCTAGTTTAAGAGAACG
AAGACCACAGCAAGAACTCCAGAATCAATGTATTAAGGCTAATGAAAGGTGCTGGGCGGCGGAGAGCCCCGAGAAGGAGGAGGAGAGAGA
GCCAGCAGCCAACCCCTACGACTTCAGGAGGCTCCTGCGCAAAACCTCCCAGCGCCGGCGCCTCGTCCAGCAGTCCTAACCGTTCAACGA
GGCAGTCACCGCCGTCGGAAGGCGCTGGAGCCTGCGGGGCAGCAGGGGCCAAGCAGGCACTCTGGGGCTGGCACCAGCAGGCACTGAAGC
TGCGGCCCTGATCTCCGCAGAGGCTGCCTGCTGCGCTCGGCCCTCAAGTGCCCGGGCCGGCCTTCGTGCTCCGAAACAAGAGACCTGGGA
GCCCTCGGGAAACCTCCCCCGACGCTCTCTCTCGGAACTCCCGCACCCTCCTTTCTCACCAGCCCGCCAGTTGTGGCAACCCTGTCCTTG
TTCCCCTAATCTATCACTTTGTTCTTTTTTTTTGTGACTCCTGTGGACTCCACTGCGCCTGGGATCTCGCCAACCCCTCTCTCATTTGGG
GTGACTGAATTCACAGATTTTTTTTTTTATTGGAAACGGCTTTTCTTGGCCAACAGAACACTTGCTAGCGGTTGAATCTTAGAGAAAAAA
GCCCGGGAGGGGTGGGGAGAATTTCGAAGATGTATTTCATCTCAAGCTTGCTCTTTCTCTTCCTTTGGTTATTAAGGTCACTAAATAAAG

>In-frame_ENST00000399312_ENST00000265944_TCGA-CV-6948-01A_MRPS6_chr21_35446045_+_MYO3A_chr10_26490194_length(amino acids)=141AA_start in transcript=103_stop in transcript=528
MSPPSRPFASREPAGFRAALADPPGMPRYELALILKAMQRKSIQEEKRRPRKDSQGKLLDLEDFYYKEFLPSRSGPKEHSPSLRERRPQQ

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Fusion Gene PPI Analysis for MRPS6-MYO3A

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
Tgene	MYO3A	chr21:35446045	chr10:26490194	ENST00000265944		31	35	1401_1479	1515.0	1617.0	MORN4

- 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 MRPS6-MYO3A

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 MRPS6-MYO3A

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	MRPS6	C0010054	Coronary Arteriosclerosis	1	CTD_human
Hgene	MRPS6	C1956346	Coronary Artery Disease	1	CTD_human
Tgene	MYO3A	C3711374	Nonsyndromic Deafness	5	CLINGEN
Tgene	MYO3A	C1384666	hearing impairment	1	GENOMICS_ENGLAND
Tgene	MYO3A	C1846784	Deafness, Autosomal Recessive 30	1	CTD_human;GENOMICS_ENGLAND