UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:MAZ-DMPK

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MAZ-DMPK
FusionPDB ID: 51942
FusionGDB2.0 ID: 51942
HgeneTgene
Gene symbol

MAZ

DMPK

Gene ID

4150

1760

Gene nameMYC associated zinc finger proteinDM1 protein kinase
SynonymsPUR1|Pur-1|SAF-1|SAF-2|SAF-3|ZF87|ZNF801|Zif87DM|DM1|DM1PK|DMK|MDPK|MT-PK
Cytomap

16p11.2

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionmyc-associated zinc finger proteinMAZIpurine-binding transcription factorserum amyloid A activating factor 1serum amyloid A activating factor 2transcription factor Zif87zinc finger protein 801zinc-finger protein, 87 kilodaltonsmyotonin-protein kinaseDM protein kinasedystrophia myotonica protein kinasemyotonic dystrophy associated protein kinasemyotonin protein kinase Athymopoietin homolog
Modification date2020031320200320
UniProtAcc

P56270

Q09013

Ensembl transtripts involved in fusion geneENST idsENST00000219782, ENST00000568282, 
ENST00000322945, ENST00000545521, 
ENST00000562337, ENST00000563402, 
ENST00000566906, ENST00000568516, 
ENST00000568544, ENST00000569978, 
ENST00000595361, ENST00000291270, 
ENST00000343373, ENST00000354227, 
ENST00000447742, ENST00000458663, 
ENST00000600757, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 1=164 X 4 X 2=32
# samples 44
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MAZ [Title/Abstract] AND DMPK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MAZ(29820907)-DMPK(46273901), # samples:1
Anticipated loss of major functional domain due to fusion event.MAZ-DMPK seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MAZ-DMPK seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MAZ-DMPK seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
MAZ-DMPK seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MAZ-DMPK seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
MAZ-DMPK seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
MAZ-DMPK seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
MAZ-DMPK seems lost the major protein functional domain in Tgene partner, which is a kinase 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
HgeneMAZ

GO:0006367

transcription initiation from RNA polymerase II promoter

1502157

HgeneMAZ

GO:0006369

termination of RNA polymerase II transcription

1502157

HgeneMAZ

GO:0008284

positive regulation of cell proliferation

25487955

HgeneMAZ

GO:0010628

positive regulation of gene expression

25487955

HgeneMAZ

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

25487955

HgeneMAZ

GO:0030335

positive regulation of cell migration

25487955

HgeneMAZ

GO:0045893

positive regulation of transcription, DNA-templated

25487955

HgeneMAZ

GO:0051897

positive regulation of protein kinase B signaling

25487955

HgeneMAZ

GO:2001234

negative regulation of apoptotic signaling pathway

25487955

TgeneDMPK

GO:0006468

protein phosphorylation

10913253|11287000

TgeneDMPK

GO:0008016

regulation of heart contraction

15598648

TgeneDMPK

GO:0010657

muscle cell apoptotic process

18729234


check buttonFusion gene breakpoints across MAZ (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across DMPK (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChiTaRS5.0N/ABG992769MAZchr16

29820907

+DMPKchr19

46273901

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000568282MAZchr1629820907+ENST00000600757DMPKchr1946273901-14265051348947133
ENST00000568282MAZchr1629820907+ENST00000447742DMPKchr1946273901-14105051348947133
ENST00000568282MAZchr1629820907+ENST00000458663DMPKchr1946273901-1299505501121126
ENST00000568282MAZchr1629820907+ENST00000354227DMPKchr1946273901-765505501121126

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
ENST00000568282ENST00000600757MAZchr1629820907+DMPKchr1946273901-0.67584050.32415953
ENST00000568282ENST00000447742MAZchr1629820907+DMPKchr1946273901-0.685490130.3145099
ENST00000568282ENST00000458663MAZchr1629820907+DMPKchr1946273901-0.5199660.48003402
ENST00000568282ENST00000354227MAZchr1629820907+DMPKchr1946273901-0.666718840.33328116

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>51942_51942_1_MAZ-DMPK_MAZ_chr16_29820907_ENST00000568282_DMPK_chr19_46273901_ENST00000354227_length(amino acids)=126AA_BP=
MPGGCGGPPQQVGCGWGASPGTGGAAPPRWVCMWPASWAGVLQCTLHSLHRMRSARGAWSPFVAELTDMVRTLAVHLHVVRNISRAQHLA

--------------------------------------------------------------

>51942_51942_2_MAZ-DMPK_MAZ_chr16_29820907_ENST00000568282_DMPK_chr19_46273901_ENST00000447742_length(amino acids)=133AA_BP=
MSGSQCIQNVDWGCWGSCSLSASRRTRSINIQTAEAGGAGWGSESSASEEGGAGSPKKRVWQKQISRVSRQRSRQTLPRAGRHAQESFAL

--------------------------------------------------------------

>51942_51942_3_MAZ-DMPK_MAZ_chr16_29820907_ENST00000568282_DMPK_chr19_46273901_ENST00000458663_length(amino acids)=126AA_BP=
MPGGCGGPPQQVGCGWGASPGTGGAAPPRWVCMWPASWAGVLQCTLHSLHRMRSARGAWSPFVAELTDMVRTLAVHLHVVRNISRAQHLA

--------------------------------------------------------------

>51942_51942_4_MAZ-DMPK_MAZ_chr16_29820907_ENST00000568282_DMPK_chr19_46273901_ENST00000600757_length(amino acids)=133AA_BP=
MSGSQCIQNVDWGCWGSCSLSASRRTRSINIQTAEAGGAGWGSESSASEEGGAGSPKKRVWQKQISRVSRQRSRQTLPRAGRHAQESFAL

--------------------------------------------------------------

Top

Fusion Protein Functional Features


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/chr16:29820907/chr19:46273901)
- 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
MAZ

P56270

DMPK

Q09013

FUNCTION: Transcriptional regulator, potentially with dual roles in transcription initiation and termination. {ECO:0000303|PubMed:1502157}.; FUNCTION: [Isoform 1]: Binds DNA and functions as a transcriptional activator (PubMed:12270922). Binds to two G/A-rich sites, ME1a1 and ME1a2, within the MYC promoter having greater affinity for the former (PubMed:1502157). Also binds to multiple G/C-rich sites within the promoter of the Sp1 family of transcription factors (PubMed:1502157). {ECO:0000269|PubMed:12270922, ECO:0000269|PubMed:1502157}.; FUNCTION: [Isoform 2]: Binds DNA and functions as a transcriptional activator (PubMed:12270922). Inhibits MAZ isoform 1-mediated transcription (PubMed:12270922). {ECO:0000269|PubMed:12270922}.; FUNCTION: [Isoform 3]: Binds DNA and functions as a transcriptional activator. {ECO:0000269|PubMed:19583771}.FUNCTION: Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity. {ECO:0000269|PubMed:10811636, ECO:0000269|PubMed:10913253, ECO:0000269|PubMed:11287000, ECO:0000269|PubMed:15598648, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:21949239}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneDMPKchr16:29820907chr19:46273901ENST000002912701315612_629579.0630.0Topological domainLumenal
TgeneDMPKchr16:29820907chr19:46273901ENST000003433731214612_629589.0640.0Topological domainLumenal
TgeneDMPKchr16:29820907chr19:46273901ENST000003542271113612_629528.3333333333334531.0Topological domainLumenal
TgeneDMPKchr16:29820907chr19:46273901ENST000004477421315612_629574.0625.0Topological domainLumenal
TgeneDMPKchr16:29820907chr19:46273901ENST000004586631315612_629572.6666666666666626.0Topological domainLumenal
TgeneDMPKchr16:29820907chr19:46273901ENST000002912701315591_611579.0630.0TransmembraneHelical%3B Anchor for type IV membrane protein
TgeneDMPKchr16:29820907chr19:46273901ENST000003433731214591_611589.0640.0TransmembraneHelical%3B Anchor for type IV membrane protein
TgeneDMPKchr16:29820907chr19:46273901ENST000003542271113591_611528.3333333333334531.0TransmembraneHelical%3B Anchor for type IV membrane protein
TgeneDMPKchr16:29820907chr19:46273901ENST000004477421315591_611574.0625.0TransmembraneHelical%3B Anchor for type IV membrane protein
TgeneDMPKchr16:29820907chr19:46273901ENST000004586631315591_611572.6666666666666626.0TransmembraneHelical%3B Anchor for type IV membrane protein

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16133_1390757.3333333333334Compositional biasNote=Poly-Pro
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16157_1610757.3333333333334Compositional biasNote=Poly-Ala
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16245_2490757.3333333333334Compositional biasNote=Poly-Gly
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16435_4490757.3333333333334Compositional biasNote=Poly-Ala
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+1696_1080757.3333333333334Compositional biasNote=Poly-Ala
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15133_1390478.0Compositional biasNote=Poly-Pro
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15157_1610478.0Compositional biasNote=Poly-Ala
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15245_2490478.0Compositional biasNote=Poly-Gly
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15435_4490478.0Compositional biasNote=Poly-Ala
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+1596_1080478.0Compositional biasNote=Poly-Ala
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16133_1390455.0Compositional biasNote=Poly-Pro
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16157_1610455.0Compositional biasNote=Poly-Ala
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16245_2490455.0Compositional biasNote=Poly-Gly
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16435_4490455.0Compositional biasNote=Poly-Ala
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+1696_1080455.0Compositional biasNote=Poly-Ala
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16190_2120757.3333333333334Zinc fingerC2H2-type 1
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16279_3010757.3333333333334Zinc fingerC2H2-type 2
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16307_3290757.3333333333334Zinc fingerC2H2-type 3
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16337_3600757.3333333333334Zinc fingerC2H2-type 4
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16366_3880757.3333333333334Zinc fingerC2H2-type 5
HgeneMAZchr16:29820907chr19:46273901ENST00000219782+16392_4130757.3333333333334Zinc fingerC2H2-type 6%3B atypical
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15190_2120478.0Zinc fingerC2H2-type 1
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15279_3010478.0Zinc fingerC2H2-type 2
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15307_3290478.0Zinc fingerC2H2-type 3
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15337_3600478.0Zinc fingerC2H2-type 4
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15366_3880478.0Zinc fingerC2H2-type 5
HgeneMAZchr16:29820907chr19:46273901ENST00000322945+15392_4130478.0Zinc fingerC2H2-type 6%3B atypical
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16190_2120455.0Zinc fingerC2H2-type 1
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16279_3010455.0Zinc fingerC2H2-type 2
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16307_3290455.0Zinc fingerC2H2-type 3
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16337_3600455.0Zinc fingerC2H2-type 4
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16366_3880455.0Zinc fingerC2H2-type 5
HgeneMAZchr16:29820907chr19:46273901ENST00000545521+16392_4130455.0Zinc fingerC2H2-type 6%3B atypical
TgeneDMPKchr16:29820907chr19:46273901ENST000002912701315457_536579.0630.0Coiled coilOntology_term=ECO:0000269,ECO:0000269
TgeneDMPKchr16:29820907chr19:46273901ENST000003433731214457_536589.0640.0Coiled coilOntology_term=ECO:0000269,ECO:0000269
TgeneDMPKchr16:29820907chr19:46273901ENST000003542271113457_536528.3333333333334531.0Coiled coilOntology_term=ECO:0000269,ECO:0000269
TgeneDMPKchr16:29820907chr19:46273901ENST000004477421315457_536574.0625.0Coiled coilOntology_term=ECO:0000269,ECO:0000269
TgeneDMPKchr16:29820907chr19:46273901ENST000004586631315457_536572.6666666666666626.0Coiled coilOntology_term=ECO:0000269,ECO:0000269
TgeneDMPKchr16:29820907chr19:46273901ENST000002912701315340_415579.0630.0DomainAGC-kinase C-terminal
TgeneDMPKchr16:29820907chr19:46273901ENST00000291270131571_339579.0630.0DomainProtein kinase
TgeneDMPKchr16:29820907chr19:46273901ENST000003433731214340_415589.0640.0DomainAGC-kinase C-terminal
TgeneDMPKchr16:29820907chr19:46273901ENST00000343373121471_339589.0640.0DomainProtein kinase
TgeneDMPKchr16:29820907chr19:46273901ENST000003542271113340_415528.3333333333334531.0DomainAGC-kinase C-terminal
TgeneDMPKchr16:29820907chr19:46273901ENST00000354227111371_339528.3333333333334531.0DomainProtein kinase
TgeneDMPKchr16:29820907chr19:46273901ENST000004477421315340_415574.0625.0DomainAGC-kinase C-terminal
TgeneDMPKchr16:29820907chr19:46273901ENST00000447742131571_339574.0625.0DomainProtein kinase
TgeneDMPKchr16:29820907chr19:46273901ENST000004586631315340_415572.6666666666666626.0DomainAGC-kinase C-terminal
TgeneDMPKchr16:29820907chr19:46273901ENST00000458663131571_339572.6666666666666626.0DomainProtein kinase
TgeneDMPKchr16:29820907chr19:46273901ENST00000291270131577_85579.0630.0Nucleotide bindingATP
TgeneDMPKchr16:29820907chr19:46273901ENST00000343373121477_85589.0640.0Nucleotide bindingATP
TgeneDMPKchr16:29820907chr19:46273901ENST00000354227111377_85528.3333333333334531.0Nucleotide bindingATP
TgeneDMPKchr16:29820907chr19:46273901ENST00000447742131577_85574.0625.0Nucleotide bindingATP
TgeneDMPKchr16:29820907chr19:46273901ENST00000458663131577_85572.6666666666666626.0Nucleotide bindingATP
TgeneDMPKchr16:29820907chr19:46273901ENST0000029127013151_590579.0630.0Topological domainCytoplasmic
TgeneDMPKchr16:29820907chr19:46273901ENST0000034337312141_590589.0640.0Topological domainCytoplasmic
TgeneDMPKchr16:29820907chr19:46273901ENST0000035422711131_590528.3333333333334531.0Topological domainCytoplasmic
TgeneDMPKchr16:29820907chr19:46273901ENST0000044774213151_590574.0625.0Topological domainCytoplasmic
TgeneDMPKchr16:29820907chr19:46273901ENST0000045866313151_590572.6666666666666626.0Topological domainCytoplasmic


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MAZ
DMPK


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to MAZ-DMPK


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to MAZ-DMPK


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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