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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-MYC (FusionGDB2 ID:56475)

Fusion Gene Summary for MYL6-MYC

check button Fusion gene summary
Fusion gene informationFusion gene name: MYL6-MYC
Fusion gene ID: 56475
HgeneTgene
Gene symbol

MYL6

MYC

Gene ID

4637

4609

Gene namemyosin light chain 6MYC proto-oncogene, bHLH transcription factor
SynonymsESMLC|LC17|LC17-GI|LC17-NM|LC17A|LC17B|MLC-3|MLC1SM|MLC3NM|MLC3SMMRTL|MYCC|bHLHe39|c-Myc
Cytomap

12q13.2

8q24.21

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-musclemyc proto-oncogene proteinavian myelocytomatosis viral oncogene homologclass E basic helix-loop-helix protein 39myc-related translation/localization regulatory factorproto-oncogene c-Myctranscription factor p64v-myc avian myelocytomatosis viral onco
Modification date2020031320200329
UniProtAcc.

Q8N699

Ensembl transtripts involved in fusion geneENST00000549017, ENST00000293422, 
ENST00000348108, ENST00000536128, 
ENST00000547408, ENST00000547649, 
ENST00000548293, ENST00000548400, 
ENST00000550697, ENST00000551589, 
ENST00000548580, ENST00000549566, 
ENST00000551954, 		ENST00000259523, 
ENST00000377970, ENST00000524013, 
Fusion gene scores* DoF score34 X 17 X 10=578024 X 26 X 9=5616
# samples 3636
** MAII scorelog2(36/5780*10)=-4.00500068105837
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(36/5616*10)=-3.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointMYL6(56553406)-MYC(128750538), # samples:1
Anticipated loss of major functional domain due to fusion event.MYL6-MYC seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MYL6-MYC seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
MYL6-MYC seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
TgeneMYC

GO:0000122

negative regulation of transcription by RNA polymerase II

9924025|19160485

TgeneMYC

GO:0006338

chromatin remodeling

21533051

TgeneMYC

GO:0006879

cellular iron ion homeostasis

9924025

TgeneMYC

GO:0006974

cellular response to DNA damage stimulus

17873522

TgeneMYC

GO:0007050

cell cycle arrest

10962037

TgeneMYC

GO:0008284

positive regulation of cell proliferation

15994933|19160485

TgeneMYC

GO:0010332

response to gamma radiation

19179467

TgeneMYC

GO:0010468

regulation of gene expression

21447833

TgeneMYC

GO:0010628

positive regulation of gene expression

15459207

TgeneMYC

GO:0032986

protein-DNA complex disassembly

19160485

TgeneMYC

GO:0035690

cellular response to drug

17873522|19179467

TgeneMYC

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

19179467

TgeneMYC

GO:0045893

positive regulation of transcription, DNA-templated

10962037|17558397|18818310

TgeneMYC

GO:0045944

positive regulation of transcription by RNA polymerase II

10723141

TgeneMYC

GO:0048146

positive regulation of fibroblast proliferation

9924025|18987311

TgeneMYC

GO:0048147

negative regulation of fibroblast proliferation

10962037

TgeneMYC

GO:0050679

positive regulation of epithelial cell proliferation

18987311

TgeneMYC

GO:0051276

chromosome organization

10962037

TgeneMYC

GO:0051782

negative regulation of cell division

10962037

TgeneMYC

GO:0070371

ERK1 and ERK2 cascade

15459207

TgeneMYC

GO:0071456

cellular response to hypoxia

15459207

TgeneMYC

GO:2001022

positive regulation of response to DNA damage stimulus

19179467


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 MYC (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
ChimerDB4STADTCGA-CD-8530-01AMYL6chr12

56553406

+MYCchr8

128750538

+


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Fusion Gene ORF analysis for MYL6-MYC

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-3CDSENST00000549017ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
5UTR-3CDSENST00000549017ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
5UTR-3CDSENST00000549017ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000293422ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000293422ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000293422ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000348108ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000348108ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000348108ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000536128ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000536128ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000536128ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547408ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547408ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547408ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547649ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547649ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547649ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548293ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548293ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548293ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548400ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548400ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548400ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000550697ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000550697ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000550697ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000551589ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000551589ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000551589ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000548580ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000548580ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000548580ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000549566ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000549566ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000549566ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000551954ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000551954ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000551954ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+

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-MYC


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 MYL6-MYC


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/:128750538)
- 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
.MYC

Q8N699

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: May regulate certain MYC target genes, MYC seems to be a direct upstream transcriptional activator. Does not seem to significantly affect growth cell capacity. Overexpression seems to mediate many of the known phenotypic features associated with MYC, including promotion of apoptosis, alteration of morphology, enhancement of anchorage-independent growth, tumorigenic conversion, promotion of genomic instability, and inhibition of hematopoietic differentiation (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-MYC


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-MYC


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-MYC


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-MYC


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