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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:MARK3-FRG1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MARK3-FRG1
FusionPDB ID: 51767
FusionGDB2.0 ID: 51767
HgeneTgene
Gene symbol

MARK3

FRG1

Gene ID

4140

2483

Gene namemicrotubule affinity regulating kinase 3FSHD region gene 1
SynonymsCTAK1|KP78|PAR1A|Par-1a|VIPBFRG1A|FSG1
Cytomap

14q32.32-q32.33

4q35.2

Type of geneprotein-codingprotein-coding
DescriptionMAP/microtubule affinity-regulating kinase 3C-TAK1ELKL motif kinase 2EMK-2cdc25C-associated protein kinase 1protein kinase STK10ser/Thr protein kinase PAR-1serine/threonine-protein kinase p78protein FRG1FSHD region gene 1 proteinfacioscapulohumeral muscular dystrophy region gene-1
Modification date2020031320200313
UniProtAcc

P27448

Q14331

Ensembl transtripts involved in fusion geneENST idsENST00000561071, ENST00000216288, 
ENST00000303622, ENST00000335102, 
ENST00000416682, ENST00000429436, 
ENST00000440884, ENST00000553942, 
ENST00000226798, ENST00000514482, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score23 X 15 X 10=34505 X 3 X 5=75
# samples 255
** MAII scorelog2(25/3450*10)=-3.78659636189081
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MARK3 [Title/Abstract] AND FRG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MARK3(103894777)-FRG1(190878553), # samples:1
Anticipated loss of major functional domain due to fusion event.MARK3-FRG1 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.
MARK3-FRG1 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.
MARK3-FRG1 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.
MARK3-FRG1 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.
* 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
HgeneMARK3

GO:0018105

peptidyl-serine phosphorylation

9543386

HgeneMARK3

GO:0032092

positive regulation of protein binding

9543386

HgeneMARK3

GO:0035331

negative regulation of hippo signaling

28087714

HgeneMARK3

GO:0036289

peptidyl-serine autophosphorylation

9543386


check buttonFusion gene breakpoints across MARK3 (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 FRG1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4BRCATCGA-A8-A06U-01AMARK3chr14

103894777

+FRG1chr4

190878553

+


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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)
ENST00000440884MARK3chr14103894777+ENST00000226798FRG1chr4190878553+13559356381279213
ENST00000416682MARK3chr14103894777+ENST00000226798FRG1chr4190878553+12948745771218213
ENST00000429436MARK3chr14103894777+ENST00000226798FRG1chr4190878553+12278075101151213
ENST00000303622MARK3chr14103894777+ENST00000226798FRG1chr4190878553+12067864891130213
ENST00000216288MARK3chr14103894777+ENST00000226798FRG1chr4190878553+887467170811213
ENST00000553942MARK3chr14103894777+ENST00000226798FRG1chr4190878553+76234245686213
ENST00000335102MARK3chr14103894777+ENST00000226798FRG1chr4190878553+7172970641213

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
ENST00000440884ENST00000226798MARK3chr14103894777+FRG1chr4190878553+0.007714160.99228585
ENST00000416682ENST00000226798MARK3chr14103894777+FRG1chr4190878553+0.0076594270.99234056
ENST00000429436ENST00000226798MARK3chr14103894777+FRG1chr4190878553+0.0051948810.99480516
ENST00000303622ENST00000226798MARK3chr14103894777+FRG1chr4190878553+0.006152120.9938479
ENST00000216288ENST00000226798MARK3chr14103894777+FRG1chr4190878553+0.0059219840.99407804
ENST00000553942ENST00000226798MARK3chr14103894777+FRG1chr4190878553+0.0112858180.98871416
ENST00000335102ENST00000226798MARK3chr14103894777+FRG1chr4190878553+0.0122652140.98773474

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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

>51767_51767_1_MARK3-FRG1_MARK3_chr14_103894777_ENST00000216288_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=213AA_BP=99
MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLKTIGKGNFAKVKLARHILTGREVAIKIIDKT
QLNPTSLQKGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISK

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

>51767_51767_2_MARK3-FRG1_MARK3_chr14_103894777_ENST00000303622_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=213AA_BP=99
MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLKTIGKGNFAKVKLARHILTGREVAIKIIDKT
QLNPTSLQKGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISK

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

>51767_51767_3_MARK3-FRG1_MARK3_chr14_103894777_ENST00000335102_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=213AA_BP=99
MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLKTIGKGNFAKVKLARHILTGREVAIKIIDKT
QLNPTSLQKGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISK

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

>51767_51767_4_MARK3-FRG1_MARK3_chr14_103894777_ENST00000416682_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=213AA_BP=99
MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLKTIGKGNFAKVKLARHILTGREVAIKIIDKT
QLNPTSLQKGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISK

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

>51767_51767_5_MARK3-FRG1_MARK3_chr14_103894777_ENST00000429436_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=213AA_BP=99
MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLKTIGKGNFAKVKLARHILTGREVAIKIIDKT
QLNPTSLQKGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISK

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

>51767_51767_6_MARK3-FRG1_MARK3_chr14_103894777_ENST00000440884_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=213AA_BP=99
MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLKTIGKGNFAKVKLARHILTGREVAIKIIDKT
QLNPTSLQKGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISK

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

>51767_51767_7_MARK3-FRG1_MARK3_chr14_103894777_ENST00000553942_FRG1_chr4_190878553_ENST00000226798_length(amino acids)=213AA_BP=99
MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLKTIGKGNFAKVKLARHILTGREVAIKIIDKT
QLNPTSLQKGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKIRSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISK

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

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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/chr14:103894777/chr4:190878553)
- 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
MARK3

P27448

FRG1

Q14331

FUNCTION: Serine/threonine-protein kinase (PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Phosphorylates CDC25C on 'Ser-216'. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus (PubMed:16980613). Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the kinase activity of STK3/MST2 toward LATS1 (PubMed:28087714). {ECO:0000269|PubMed:16980613, ECO:0000269|PubMed:23666762, ECO:0000269|PubMed:28087714}.FUNCTION: Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B. {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900, ECO:0000269|PubMed:23720823}.

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
HgeneMARK3chr14:103894777chr4:190878553ENST00000216288+31662_7099.0714.0Nucleotide bindingATP
HgeneMARK3chr14:103894777chr4:190878553ENST00000303622+31662_7099.0730.0Nucleotide bindingATP
HgeneMARK3chr14:103894777chr4:190878553ENST00000416682+31762_7099.0753.0Nucleotide bindingATP
HgeneMARK3chr14:103894777chr4:190878553ENST00000429436+31862_7099.0754.0Nucleotide bindingATP
HgeneMARK3chr14:103894777chr4:190878553ENST00000440884+31662_7099.0660.0Nucleotide bindingATP
HgeneMARK3chr14:103894777chr4:190878553ENST00000553942+31762_7099.0745.0Nucleotide bindingATP
TgeneFRG1chr14:103894777chr4:190878553ENST0000022679849235_251144.0259.0MotifBipartite nuclear localization signal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMARK3chr14:103894777chr4:190878553ENST00000216288+316326_36599.0714.0DomainUBA
HgeneMARK3chr14:103894777chr4:190878553ENST00000216288+31656_30799.0714.0DomainProtein kinase
HgeneMARK3chr14:103894777chr4:190878553ENST00000216288+316704_75399.0714.0DomainKA1
HgeneMARK3chr14:103894777chr4:190878553ENST00000303622+316326_36599.0730.0DomainUBA
HgeneMARK3chr14:103894777chr4:190878553ENST00000303622+31656_30799.0730.0DomainProtein kinase
HgeneMARK3chr14:103894777chr4:190878553ENST00000303622+316704_75399.0730.0DomainKA1
HgeneMARK3chr14:103894777chr4:190878553ENST00000416682+317326_36599.0753.0DomainUBA
HgeneMARK3chr14:103894777chr4:190878553ENST00000416682+31756_30799.0753.0DomainProtein kinase
HgeneMARK3chr14:103894777chr4:190878553ENST00000416682+317704_75399.0753.0DomainKA1
HgeneMARK3chr14:103894777chr4:190878553ENST00000429436+318326_36599.0754.0DomainUBA
HgeneMARK3chr14:103894777chr4:190878553ENST00000429436+31856_30799.0754.0DomainProtein kinase
HgeneMARK3chr14:103894777chr4:190878553ENST00000429436+318704_75399.0754.0DomainKA1
HgeneMARK3chr14:103894777chr4:190878553ENST00000440884+316326_36599.0660.0DomainUBA
HgeneMARK3chr14:103894777chr4:190878553ENST00000440884+31656_30799.0660.0DomainProtein kinase
HgeneMARK3chr14:103894777chr4:190878553ENST00000440884+316704_75399.0660.0DomainKA1
HgeneMARK3chr14:103894777chr4:190878553ENST00000553942+317326_36599.0745.0DomainUBA
HgeneMARK3chr14:103894777chr4:190878553ENST00000553942+31756_30799.0745.0DomainProtein kinase
HgeneMARK3chr14:103894777chr4:190878553ENST00000553942+317704_75399.0745.0DomainKA1
TgeneFRG1chr14:103894777chr4:190878553ENST00000226798498_32144.0259.0Compositional biasNote=Lys-rich
TgeneFRG1chr14:103894777chr4:190878553ENST000002267984922_32144.0259.0MotifNuclear localization signal


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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
MARK3
FRG1


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


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Related Drugs to MARK3-FRG1


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

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Related Diseases to MARK3-FRG1


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