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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:56132)

Fusion Gene Summary for MYL6-MYC

check button Fusion gene summary
Fusion gene informationFusion gene name: MYL6-MYC
Fusion gene ID: 56132
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 geneENST00000550697, ENST00000548580, 
ENST00000293422, ENST00000348108, 
ENST00000549017, ENST00000549566, 
ENST00000536128, ENST00000547649, 
ENST00000547408, ENST00000551589, 
ENST00000548400, ENST00000548293, 
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 transcription factor 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.
* 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
Frame-shiftENST00000550697ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000550697ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000550697ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000548580ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000548580ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000548580ENST00000524013MYL6chr12

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

+
5UTR-3CDSENST00000549017ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
5UTR-3CDSENST00000549017ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
5UTR-3CDSENST00000549017ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000549566ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000549566ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
intron-3CDSENST00000549566ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000536128ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000536128ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000536128ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547649ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547649ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547649ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547408ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547408ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000547408ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000551589ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000551589ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000551589ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548400ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548400ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548400ENST00000524013MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548293ENST00000259523MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548293ENST00000377970MYL6chr12

56553406

+MYCchr8

128750538

+
Frame-shiftENST00000548293ENST00000524013MYL6chr12

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 Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q8N699

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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
TgeneMYCC0007102Malignant tumor of colon4CTD_human
TgeneMYCC0009375Colonic Neoplasms4CTD_human
TgeneMYCC2239176Liver carcinoma4CTD_human
TgeneMYCC0007621Neoplastic Cell Transformation3CTD_human
TgeneMYCC0019207Hepatoma, Morris3CTD_human
TgeneMYCC0019208Hepatoma, Novikoff3CTD_human
TgeneMYCC0023904Liver Neoplasms, Experimental3CTD_human
TgeneMYCC0033578Prostatic Neoplasms3CTD_human
TgeneMYCC0086404Experimental Hepatoma3CTD_human
TgeneMYCC0376358Malignant neoplasm of prostate3CTD_human
TgeneMYCC0023903Liver neoplasms2CTD_human
TgeneMYCC0024121Lung Neoplasms2CTD_human
TgeneMYCC0024623Malignant neoplasm of stomach2CTD_human
TgeneMYCC0038356Stomach Neoplasms2CTD_human
TgeneMYCC0152013Adenocarcinoma of lung (disorder)2CTD_human
TgeneMYCC0235874Disease Exacerbation2CTD_human
TgeneMYCC0242379Malignant neoplasm of lung2CTD_human
TgeneMYCC0345904Malignant neoplasm of liver2CTD_human
TgeneMYCC1708349Hereditary Diffuse Gastric Cancer2CTD_human
TgeneMYCC0001418Adenocarcinoma1CTD_human
TgeneMYCC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneMYCC0005695Bladder Neoplasm1CTD_human
TgeneMYCC0006826Malignant Neoplasms1CGI;CTD_human
TgeneMYCC0007097Carcinoma1CTD_human
TgeneMYCC0007129Merkel cell carcinoma1CTD_human
TgeneMYCC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneMYCC0007137Squamous cell carcinoma1CTD_human
TgeneMYCC0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneMYCC0007873Uterine Cervical Neoplasm1CTD_human
TgeneMYCC0008924Cleft upper lip1CTD_human
TgeneMYCC0008925Cleft Palate1CTD_human
TgeneMYCC0009402Colorectal Carcinoma1CTD_human
TgeneMYCC0009404Colorectal Neoplasms1CTD_human
TgeneMYCC0014170Endometrial Neoplasms1CTD_human
TgeneMYCC0015695Fatty Liver1CTD_human
TgeneMYCC0017636Glioblastoma1CTD_human
TgeneMYCC0018923Hemangiosarcoma1CTD_human
TgeneMYCC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneMYCC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMYCC0025149Medulloblastoma1CTD_human
TgeneMYCC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneMYCC0027627Neoplasm Metastasis1CTD_human
TgeneMYCC0027651Neoplasms1CTD_human
TgeneMYCC0027819Neuroblastoma1CGI;CTD_human
TgeneMYCC0029463Osteosarcoma1CTD_human
TgeneMYCC0030297Pancreatic Neoplasm1CTD_human
TgeneMYCC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneMYCC0085413Polycystic Kidney, Autosomal Dominant1CTD_human
TgeneMYCC0086692Benign Neoplasm1CTD_human
TgeneMYCC0149721Left Ventricular Hypertrophy1CTD_human
TgeneMYCC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneMYCC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneMYCC0205643Carcinoma, Cribriform1CTD_human
TgeneMYCC0205644Carcinoma, Granular Cell1CTD_human
TgeneMYCC0205645Adenocarcinoma, Tubular1CTD_human
TgeneMYCC0205696Anaplastic carcinoma1CTD_human
TgeneMYCC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneMYCC0205698Undifferentiated carcinoma1CTD_human
TgeneMYCC0205699Carcinomatosis1CTD_human
TgeneMYCC0205833Medullomyoblastoma1CTD_human
TgeneMYCC0206093Neuroectodermal Tumors1CTD_human
TgeneMYCC0278510Childhood Medulloblastoma1CTD_human
TgeneMYCC0278876Adult Medulloblastoma1CTD_human
TgeneMYCC0333704Chromosome Breaks1CTD_human
TgeneMYCC0334588Giant Cell Glioblastoma1CTD_human
TgeneMYCC0346647Malignant neoplasm of pancreas1CTD_human
TgeneMYCC0376628Chromosome Breakage1CTD_human
TgeneMYCC0476089Endometrial Carcinoma1CTD_human
TgeneMYCC0751291Desmoplastic Medulloblastoma1CTD_human
TgeneMYCC0887850Polycystic Kidney, Type 1 Autosomal Dominant Disease1CTD_human
TgeneMYCC0919267ovarian neoplasm1CTD_human
TgeneMYCC1140680Malignant neoplasm of ovary1CTD_human
TgeneMYCC1176475Ductal Carcinoma1CTD_human
TgeneMYCC1275668Melanotic medulloblastoma1CTD_human
TgeneMYCC1621958Glioblastoma Multiforme1CTD_human
TgeneMYCC1837218Cleft palate, isolated1CTD_human
TgeneMYCC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneMYCC2711227Steatohepatitis1CTD_human
TgeneMYCC2713368Hematopoetic Myelodysplasia1CTD_human
TgeneMYCC2751306Polycystic kidney disease, type 21CTD_human
TgeneMYCC3463824MYELODYSPLASTIC SYNDROME1CTD_human
TgeneMYCC4048328cervical cancer1CTD_human
TgeneMYCC4551472Hypertrophic obstructive cardiomyopathy1CTD_human