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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:MYO18A-MSI2 (FusionGDB2 ID:56592)

Fusion Gene Summary for MYO18A-MSI2

check button Fusion gene summary
Fusion gene informationFusion gene name: MYO18A-MSI2
Fusion gene ID: 56592
HgeneTgene
Gene symbol

MYO18A

MSI2

Gene ID

399687

124540

Gene namemyosin XVIIIAmusashi RNA binding protein 2
SynonymsMAJN|MYSPDZ|SP-R210|SPR210MSI2H
Cytomap

17q11.2

17q22

Type of geneprotein-codingprotein-coding
Descriptionunconventional myosin-XVIIIaSP-A receptor subunit SP-R210 alphaSmolecule associated with JAK3 N-terminusmyosin 18Amyosin containing PDZ domainmyosin containing a PDZ domainsurfactant protein receptor SP-R210RNA-binding protein Musashi homolog 2musashi homolog 2musashi-2
Modification date2020031320200313
UniProtAcc

Q92614

Q96DH6

Ensembl transtripts involved in fusion geneENST00000354329, ENST00000527372, 
ENST00000531253, ENST00000529578, 
ENST00000533112, 
ENST00000284073, 
ENST00000322684, ENST00000416426, 
ENST00000442934, ENST00000579180, 
ENST00000579505, 
Fusion gene scores* DoF score26 X 21 X 12=655226 X 18 X 10=4680
# samples 2730
** MAII scorelog2(27/6552*10)=-4.60090404459018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(30/4680*10)=-3.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYO18A [Title/Abstract] AND MSI2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYO18A(27507331)-MSI2(55334459), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across MYO18A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MSI2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-C8-A275-01AMYO18Achr17

27507331

-MSI2chr17

55334459

+


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Fusion Gene ORF analysis for MYO18A-MSI2

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-5UTRENST00000354329ENST00000284073MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-5UTRENST00000354329ENST00000322684MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-5UTRENST00000354329ENST00000416426MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-5UTRENST00000527372ENST00000284073MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-5UTRENST00000527372ENST00000322684MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-5UTRENST00000527372ENST00000416426MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-5UTRENST00000531253ENST00000284073MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-5UTRENST00000531253ENST00000322684MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-5UTRENST00000531253ENST00000416426MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-intronENST00000354329ENST00000442934MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-intronENST00000354329ENST00000579180MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-intronENST00000354329ENST00000579505MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-intronENST00000527372ENST00000442934MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-intronENST00000527372ENST00000579180MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-intronENST00000527372ENST00000579505MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-intronENST00000531253ENST00000442934MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-intronENST00000531253ENST00000579180MYO18Achr17

27507331

-MSI2chr17

55334459

+
5UTR-intronENST00000531253ENST00000579505MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-5UTRENST00000529578ENST00000284073MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-5UTRENST00000529578ENST00000322684MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-5UTRENST00000529578ENST00000416426MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-5UTRENST00000533112ENST00000284073MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-5UTRENST00000533112ENST00000322684MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-5UTRENST00000533112ENST00000416426MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-intronENST00000529578ENST00000442934MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-intronENST00000529578ENST00000579180MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-intronENST00000529578ENST00000579505MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-intronENST00000533112ENST00000442934MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-intronENST00000533112ENST00000579180MYO18Achr17

27507331

-MSI2chr17

55334459

+
intron-intronENST00000533112ENST00000579505MYO18Achr17

27507331

-MSI2chr17

55334459

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for MYO18A-MSI2


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.

check buttonDistribution 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.
genomic feature of top 1%

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Fusion Protein Features for MYO18A-MSI2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:27507331/:55334459)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYO18A

Q92614

MSI2

Q96DH6

FUNCTION: May link Golgi membranes to the cytoskeleton and participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus (PubMed:19837035, PubMed:23345592). Alternatively, in concert with LURAP1 and CDC42BPA/CDC42BPB, has been involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). Regulates trafficking, expression, and activation of innate immune receptors on macrophages. Plays a role to suppress inflammatory responsiveness of macrophages via a mechanism that modulates CD14 trafficking (PubMed:25965346). Acts as a receptor of surfactant-associated protein A (SFTPA1/SP-A) and plays an important role in internalization and clearance of SFTPA1-opsonized S.aureus by alveolar macrophages (PubMed:16087679, PubMed:21123169). Strongly enhances natural killer cell cytotoxicity (PubMed:27467939). {ECO:0000250|UniProtKB:Q9JMH9, ECO:0000269|PubMed:16087679, ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:19837035, ECO:0000269|PubMed:21123169, ECO:0000269|PubMed:23345592, ECO:0000269|PubMed:25965346, ECO:0000269|PubMed:27467939}.FUNCTION: RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity). {ECO:0000250}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for MYO18A-MSI2


check button 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 MYO18A-MSI2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for MYO18A-MSI2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for MYO18A-MSI2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource