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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:MYL6-UBB (FusionGDB2 ID:56493)

Fusion Gene Summary for MYL6-UBB

check button Fusion gene summary
Fusion gene informationFusion gene name: MYL6-UBB
Fusion gene ID: 56493
HgeneTgene
Gene symbol

MYL6

UBB

Gene ID

4637

7314

Gene namemyosin light chain 6ubiquitin B
SynonymsESMLC|LC17|LC17-GI|LC17-NM|LC17A|LC17B|MLC-3|MLC1SM|MLC3NM|MLC3SMHEL-S-50
Cytomap

12q13.2

17p11.2

Type of geneprotein-codingprotein-coding
Descriptionmyosin light polypeptide 617 kDa myosin light chainmyosin light chain A3myosin light chain alkali 3myosin, light chain 6, alkali, smooth muscle and non-musclemyosin, light polypeptide 6, alkali, smooth muscle and non-musclepolyubiquitin-Bepididymis secretory protein Li 50polyubiquitin B
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000293422, ENST00000348108, 
ENST00000536128, ENST00000547408, 
ENST00000547649, ENST00000548293, 
ENST00000548400, ENST00000550697, 
ENST00000551589, ENST00000549017, 
ENST00000548580, ENST00000549566, 
ENST00000551954, 		ENST00000302182, 
ENST00000395837, ENST00000395839, 
ENST00000535788, ENST00000578649, 
Fusion gene scores* DoF score34 X 17 X 10=578034 X 9 X 11=3366
# samples 3634
** MAII scorelog2(36/5780*10)=-4.00500068105837
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(34/3366*10)=-3.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYL6 [Title/Abstract] AND UBB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYL6(56553406)-UBB(16285216), # 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
TgeneUBB

GO:0031398

positive regulation of protein ubiquitination

24660806

TgeneUBB

GO:0047497

mitochondrion transport along microtubule

17571083

TgeneUBB

GO:0051881

regulation of mitochondrial membrane potential

17571083

TgeneUBB

GO:0061136

regulation of proteasomal protein catabolic process

17571083

TgeneUBB

GO:1901214

regulation of neuron death

17571083

TgeneUBB

GO:1902255

positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator

17571083


check buttonFusion gene breakpoints across MYL6 (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 UBB (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
ChimerDB4UCSTCGA-N8-A4PPMYL6chr12

56553406

+UBBchr17

16285216

+


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Fusion Gene ORF analysis for MYL6-UBB

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-5UTRENST00000293422ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000293422ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000293422ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000293422ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000348108ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000348108ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000348108ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000348108ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000536128ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000536128ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000536128ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000536128ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000547408ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000547408ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000547408ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000547408ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000547649ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000547649ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000547649ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000547649ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000548293ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000548293ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000548293ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000548293ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000548400ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000548400ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000548400ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000548400ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000550697ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000550697ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000550697ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000550697ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000551589ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000551589ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000551589ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-5UTRENST00000551589ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-intronENST00000293422ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-intronENST00000348108ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-intronENST00000536128ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-intronENST00000547408ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-intronENST00000547649ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-intronENST00000548293ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-intronENST00000548400ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-intronENST00000550697ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
5CDS-intronENST00000551589ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
5UTR-5UTRENST00000549017ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
5UTR-5UTRENST00000549017ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
5UTR-5UTRENST00000549017ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
5UTR-5UTRENST00000549017ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
5UTR-intronENST00000549017ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000548580ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000548580ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000548580ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000548580ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000549566ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000549566ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000549566ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000549566ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000551954ENST00000302182MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000551954ENST00000395837MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000551954ENST00000395839MYL6chr12

56553406

+UBBchr17

16285216

+
intron-5UTRENST00000551954ENST00000535788MYL6chr12

56553406

+UBBchr17

16285216

+
intron-intronENST00000548580ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
intron-intronENST00000549566ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+
intron-intronENST00000551954ENST00000578649MYL6chr12

56553406

+UBBchr17

16285216

+

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 MYL6-UBB


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 MYL6-UBB


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/:56553406/:16285216)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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 MYL6-UBB


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 MYL6-UBB


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 MYL6-UBB


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 MYL6-UBB


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