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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:MYLK-PARP1 (FusionGDB2 ID:56526)

Fusion Gene Summary for MYLK-PARP1

check button Fusion gene summary
Fusion gene informationFusion gene name: MYLK-PARP1
Fusion gene ID: 56526
HgeneTgene
Gene symbol

MYLK

PARP1

Gene ID

4638

142

Gene namemyosin light chain kinasepoly(ADP-ribose) polymerase 1
SynonymsAAT7|KRP|MLCK|MLCK1|MLCK108|MLCK210|MMIHS|MSTP083|MYLK1|smMLCKADPRT|ADPRT 1|ADPRT1|ARTD1|PARP|PARP-1|PPOL|pADPRT-1
Cytomap

3q21.1

1q42.12

Type of geneprotein-codingprotein-coding
Descriptionmyosin light chain kinase, smooth musclekinase-related proteinmyosin, light polypeptide kinasesmooth muscle myosin light chain kinasetelokinpoly [ADP-ribose] polymerase 1ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)ADP-ribosyltransferase NAD(+)ADP-ribosyltransferase diphtheria toxin-like 1DNA ADP-ribosyltransferase PARP1NAD(+) ADP-ribosyltransferase 1poly (ADP-ribose) poly
Modification date2020032020200329
UniProtAcc

Q15746

.
Ensembl transtripts involved in fusion geneENST00000359169, ENST00000360304, 
ENST00000346322, ENST00000354792, 
ENST00000360772, ENST00000418370, 
ENST00000475616, ENST00000510775, 
ENST00000578202, ENST00000583087, 
ENST00000366790, ENST00000366791, 
ENST00000366792, ENST00000366794, 
ENST00000490921, 
Fusion gene scores* DoF score17 X 15 X 7=178512 X 10 X 9=1080
# samples 1812
** MAII scorelog2(18/1785*10)=-3.30985526258679
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/1080*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYLK [Title/Abstract] AND PARP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYLK(123331145)-PARP1(224102800), # 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
HgeneMYLK

GO:0030335

positive regulation of cell migration

19826488

HgeneMYLK

GO:0051928

positive regulation of calcium ion transport

16284075

HgeneMYLK

GO:0071476

cellular hypotonic response

11976941

HgeneMYLK

GO:0090303

positive regulation of wound healing

15825080

TgenePARP1

GO:0006471

protein ADP-ribosylation

7852410|17396150|26344098|27067600

TgenePARP1

GO:0006915

apoptotic process

15565177

TgenePARP1

GO:0018312

peptidyl-serine ADP-ribosylation

28190768

TgenePARP1

GO:0018424

peptidyl-glutamic acid poly-ADP-ribosylation

19764761

TgenePARP1

GO:0030592

DNA ADP-ribosylation

27471034

TgenePARP1

GO:0032869

cellular response to insulin stimulus

19303849

TgenePARP1

GO:0045944

positive regulation of transcription by RNA polymerase II

11112786

TgenePARP1

GO:0050790

regulation of catalytic activity

25749521

TgenePARP1

GO:0070212

protein poly-ADP-ribosylation

15674325|19470756|25043379

TgenePARP1

GO:0070213

protein auto-ADP-ribosylation

19764761

TgenePARP1

GO:1905168

positive regulation of double-strand break repair via homologous recombination

26344098|30356214

TgenePARP1

GO:1990966

ATP generation from poly-ADP-D-ribose

27257257


check buttonFusion gene breakpoints across MYLK (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 PARP1 (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
ChimerDB4SARCTCGA-HB-A3L4-01AMYLKchr3

123331145

-PARP1chr1

224102800

-


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Fusion Gene ORF analysis for MYLK-PARP1

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-intronENST00000359169ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
5CDS-intronENST00000359169ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
5CDS-intronENST00000359169ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
5CDS-intronENST00000359169ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
5CDS-intronENST00000359169ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-
5CDS-intronENST00000360304ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
5CDS-intronENST00000360304ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
5CDS-intronENST00000360304ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
5CDS-intronENST00000360304ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
5CDS-intronENST00000360304ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000346322ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000346322ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000346322ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000346322ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000346322ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000354792ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000354792ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000354792ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000354792ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000354792ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000360772ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000360772ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000360772ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000360772ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000360772ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000418370ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000418370ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000418370ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000418370ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000418370ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000475616ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000475616ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000475616ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000475616ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000475616ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000510775ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000510775ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000510775ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000510775ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000510775ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000578202ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000578202ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000578202ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000578202ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000578202ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000583087ENST00000366790MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000583087ENST00000366791MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000583087ENST00000366792MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000583087ENST00000366794MYLKchr3

123331145

-PARP1chr1

224102800

-
intron-intronENST00000583087ENST00000490921MYLKchr3

123331145

-PARP1chr1

224102800

-

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 MYLK-PARP1


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 MYLK-PARP1


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/:123331145/:224102800)
- 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
MYLK

Q15746

.
FUNCTION: Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA-dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis. {ECO:0000269|PubMed:11113114, ECO:0000269|PubMed:11976941, ECO:0000269|PubMed:15020676, ECO:0000269|PubMed:15825080, ECO:0000269|PubMed:16284075, ECO:0000269|PubMed:16723733, ECO:0000269|PubMed:18587400, ECO:0000269|PubMed:18710790, ECO:0000269|PubMed:19826488, ECO:0000269|PubMed:20139351, ECO:0000269|PubMed:20181817, ECO:0000269|PubMed:20375339, ECO:0000269|PubMed:20453870}.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 MYLK-PARP1


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 MYLK-PARP1


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 MYLK-PARP1


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 MYLK-PARP1


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