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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-BCAS3 (FusionGDB2 ID:56582)

Fusion Gene Summary for MYO18A-BCAS3

check button Fusion gene summary
Fusion gene informationFusion gene name: MYO18A-BCAS3
Fusion gene ID: 56582
HgeneTgene
Gene symbol

MYO18A

BCAS3

Gene ID

399687

54828

Gene namemyosin XVIIIABCAS3 microtubule associated cell migration factor
SynonymsMAJN|MYSPDZ|SP-R210|SPR210GAOB1|MAAB
Cytomap

17q11.2

17q23.2

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-R210breast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1
Modification date2020031320200313
UniProtAcc

Q92614

Q9H6U6

Ensembl transtripts involved in fusion geneENST00000354329, ENST00000527372, 
ENST00000531253, ENST00000533112, 
ENST00000529578, 		ENST00000585812, 
ENST00000390652, ENST00000407086, 
ENST00000408905, ENST00000585744, 
ENST00000588462, ENST00000588874, 
ENST00000589222, 
Fusion gene scores* DoF score26 X 21 X 12=655245 X 32 X 19=27360
# samples 2753
** MAII scorelog2(27/6552*10)=-4.60090404459018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(53/27360*10)=-5.6899320603227
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYO18A [Title/Abstract] AND BCAS3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYO18A(27492960)-BCAS3(58987893), # samples:3
Anticipated loss of major functional domain due to fusion event.MYO18A-BCAS3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MYO18A-BCAS3 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneBCAS3

GO:0043085

positive regulation of catalytic activity

17505058

TgeneBCAS3

GO:0045944

positive regulation of transcription by RNA polymerase II

17505058

TgeneBCAS3

GO:0071391

cellular response to estrogen stimulus

17505058


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 BCAS3 (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
ChimerDB4THYMTCGA-ZB-A96L-01AMYO18Achr17

27492960

-BCAS3chr17

58987893

+
ChimerDB4THYMTCGA-ZB-A96LMYO18Achr17

27492960

-BCAS3chr17

58987893

+


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Fusion Gene ORF analysis for MYO18A-BCAS3

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
5CDS-intronENST00000354329ENST00000585812MYO18Achr17

27492960

-BCAS3chr17

58987893

+
5CDS-intronENST00000527372ENST00000585812MYO18Achr17

27492960

-BCAS3chr17

58987893

+
5CDS-intronENST00000531253ENST00000585812MYO18Achr17

27492960

-BCAS3chr17

58987893

+
5CDS-intronENST00000533112ENST00000585812MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000354329ENST00000390652MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000354329ENST00000407086MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000354329ENST00000408905MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000354329ENST00000585744MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000354329ENST00000588462MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000354329ENST00000588874MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000354329ENST00000589222MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000527372ENST00000390652MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000527372ENST00000407086MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000527372ENST00000408905MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000527372ENST00000585744MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000527372ENST00000588462MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000527372ENST00000588874MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000527372ENST00000589222MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000531253ENST00000390652MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000531253ENST00000407086MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000531253ENST00000408905MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000531253ENST00000585744MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000531253ENST00000588462MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000531253ENST00000588874MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000531253ENST00000589222MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000533112ENST00000390652MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000533112ENST00000407086MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000533112ENST00000408905MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000533112ENST00000585744MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000533112ENST00000588462MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000533112ENST00000588874MYO18Achr17

27492960

-BCAS3chr17

58987893

+
Frame-shiftENST00000533112ENST00000589222MYO18Achr17

27492960

-BCAS3chr17

58987893

+
intron-3CDSENST00000529578ENST00000390652MYO18Achr17

27492960

-BCAS3chr17

58987893

+
intron-3CDSENST00000529578ENST00000407086MYO18Achr17

27492960

-BCAS3chr17

58987893

+
intron-3CDSENST00000529578ENST00000408905MYO18Achr17

27492960

-BCAS3chr17

58987893

+
intron-3CDSENST00000529578ENST00000585744MYO18Achr17

27492960

-BCAS3chr17

58987893

+
intron-3CDSENST00000529578ENST00000588462MYO18Achr17

27492960

-BCAS3chr17

58987893

+
intron-3CDSENST00000529578ENST00000588874MYO18Achr17

27492960

-BCAS3chr17

58987893

+
intron-3CDSENST00000529578ENST00000589222MYO18Achr17

27492960

-BCAS3chr17

58987893

+
intron-intronENST00000529578ENST00000585812MYO18Achr17

27492960

-BCAS3chr17

58987893

+

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-BCAS3


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-BCAS3


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/:27492960/:58987893)
- 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

BCAS3

Q9H6U6

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: Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin. {ECO:0000250|UniProtKB:Q8CCN5, ECO:0000269|PubMed:17505058}.

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-BCAS3


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-BCAS3


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-BCAS3


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-BCAS3


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