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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:MYL12A-MYOM1 (FusionGDB2 ID:56430)

Fusion Gene Summary for MYL12A-MYOM1

check button Fusion gene summary
Fusion gene informationFusion gene name: MYL12A-MYOM1
Fusion gene ID: 56430
HgeneTgene
Gene symbol

MYL12A

MYOM1

Gene ID

10627

8736

Gene namemyosin light chain 12Amyomesin 1
SynonymsHEL-S-24|MLC-2B|MLCB|MRCL3|MRLC3|MYL2BSKELEMIN
Cytomap

18p11.31

18p11.31

Type of geneprotein-codingprotein-coding
Descriptionmyosin regulatory light chain 12Aepididymis secretory protein Li 24myosin RLCmyosin regulatory light chain 2, nonsarcomericmyosin regulatory light chain 3myosin regulatory light chain MRLC3myosin, light chain 12A, regulatory, non-sarcomericmyosin, myomesin-1190 kDa connectin-associated protein190 kDa titin-associated proteinEH-myomesinmyomesin (M-protein) 1 (190kD)myomesin 1 (skelemin) 185kDamyomesin 1 variant 1myomesin 1, 185kDamyomesin family member 1
Modification date2020031320200313
UniProtAcc

P19105

P52179

Ensembl transtripts involved in fusion geneENST00000585090, ENST00000217652, 
ENST00000536605, ENST00000578611, 
ENST00000579226, ENST00000580887, 
ENST00000356443, ENST00000400569, 
ENST00000261606, ENST00000582016, 
Fusion gene scores* DoF score11 X 8 X 6=52810 X 11 X 8=880
# samples 1313
** MAII scorelog2(13/528*10)=-2.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/880*10)=-2.75899190049621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYL12A [Title/Abstract] AND MYOM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYL12A(3254048)-MYOM1(3219876), # 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)

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 MYL12A (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 MYOM1 (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
ChimerDB4HNSCTCGA-UF-A71AMYL12Achr18

3247907

+MYOM1chr18

3219876

-
ChimerDB4OVTCGA-57-1993-01AMYL12Achr18

3254048

+MYOM1chr18

3219876

-


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Fusion Gene ORF analysis for MYL12A-MYOM1

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
3UTR-5UTRENST00000585090ENST00000356443MYL12Achr18

3247907

+MYOM1chr18

3219876

-
3UTR-5UTRENST00000585090ENST00000400569MYL12Achr18

3247907

+MYOM1chr18

3219876

-
3UTR-intronENST00000585090ENST00000261606MYL12Achr18

3247907

+MYOM1chr18

3219876

-
3UTR-intronENST00000585090ENST00000582016MYL12Achr18

3247907

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000217652ENST00000356443MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000217652ENST00000400569MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000536605ENST00000356443MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000536605ENST00000400569MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000578611ENST00000356443MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000578611ENST00000400569MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000579226ENST00000356443MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000579226ENST00000400569MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000580887ENST00000356443MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-5UTRENST00000580887ENST00000400569MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000217652ENST00000261606MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000217652ENST00000582016MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000536605ENST00000261606MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000536605ENST00000582016MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000578611ENST00000261606MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000578611ENST00000582016MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000579226ENST00000261606MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000579226ENST00000582016MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000580887ENST00000261606MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5CDS-intronENST00000580887ENST00000582016MYL12Achr18

3254048

+MYOM1chr18

3219876

-
5UTR-5UTRENST00000217652ENST00000356443MYL12Achr18

3247907

+MYOM1chr18

3219876

-
5UTR-5UTRENST00000217652ENST00000400569MYL12Achr18

3247907

+MYOM1chr18

3219876

-
5UTR-5UTRENST00000578611ENST00000356443MYL12Achr18

3247907

+MYOM1chr18

3219876

-
5UTR-5UTRENST00000578611ENST00000400569MYL12Achr18

3247907

+MYOM1chr18

3219876

-
5UTR-intronENST00000217652ENST00000261606MYL12Achr18

3247907

+MYOM1chr18

3219876

-
5UTR-intronENST00000217652ENST00000582016MYL12Achr18

3247907

+MYOM1chr18

3219876

-
5UTR-intronENST00000578611ENST00000261606MYL12Achr18

3247907

+MYOM1chr18

3219876

-
5UTR-intronENST00000578611ENST00000582016MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-5UTRENST00000536605ENST00000356443MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-5UTRENST00000536605ENST00000400569MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-5UTRENST00000579226ENST00000356443MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-5UTRENST00000579226ENST00000400569MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-5UTRENST00000580887ENST00000356443MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-5UTRENST00000580887ENST00000400569MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-5UTRENST00000585090ENST00000356443MYL12Achr18

3254048

+MYOM1chr18

3219876

-
intron-5UTRENST00000585090ENST00000400569MYL12Achr18

3254048

+MYOM1chr18

3219876

-
intron-intronENST00000536605ENST00000261606MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-intronENST00000536605ENST00000582016MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-intronENST00000579226ENST00000261606MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-intronENST00000579226ENST00000582016MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-intronENST00000580887ENST00000261606MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-intronENST00000580887ENST00000582016MYL12Achr18

3247907

+MYOM1chr18

3219876

-
intron-intronENST00000585090ENST00000261606MYL12Achr18

3254048

+MYOM1chr18

3219876

-
intron-intronENST00000585090ENST00000582016MYL12Achr18

3254048

+MYOM1chr18

3219876

-

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 MYL12A-MYOM1


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.

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Fusion Protein Features for MYL12A-MYOM1


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/:3254048/:3219876)
- 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
MYL12A

P19105

MYOM1

P52179

FUNCTION: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity). {ECO:0000250}.FUNCTION: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.

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 MYL12A-MYOM1


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 MYL12A-MYOM1


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 MYL12A-MYOM1


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 MYL12A-MYOM1


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