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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 22089

FusionGeneSummary for MKL2_PPP6R3

check button Fusion gene summary
Fusion gene informationFusion gene name: MKL2_PPP6R3
Fusion gene ID: 22089
HgeneTgene
Gene symbol

MKL2

PPP6R3

Gene ID

57496

55291

Gene nameMKL1/myocardin like 2protein phosphatase 6 regulatory subunit 3
SynonymsMRTF-B|MRTFB|NPD001C11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3
Cytomap

16p13.12

11q13.2

Type of geneprotein-codingprotein-coding
DescriptionMKL/myocardin-like protein 2CTA-276F8.1MKL and myocardin family member 2MKL/myocardin like 2megakaryoblastic leukemia 2myocardin-related transcription factor Bserine/threonine-protein phosphatase 6 regulatory subunit 3SAPS domain family, member 3sporulation-induced transcript 4-associated protein SAPL
Modification date2018052320180520
UniProtAcc

Q9ULH7

Q5H9R7

Ensembl transtripts involved in fusion geneENST00000571589, ENST00000574045, 
ENST00000318282, ENST00000572567, 
ENST00000341243, ENST00000575537, 
ENST00000573051, 
ENST00000393799, 
ENST00000530427, ENST00000393800, 
ENST00000534534, ENST00000524845, 
ENST00000265637, ENST00000524904, 
ENST00000393801, ENST00000265636, 
ENST00000529710, ENST00000527403, 
Fusion gene scores* DoF score12 X 6 X 7=50415 X 15 X 6=1350
# samples 1119
** MAII scorelog2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1350*10)=-2.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MKL2 [Title/Abstract] AND PPP6R3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneMKL2

GO:0045844

positive regulation of striated muscle tissue development

14565952

HgeneMKL2

GO:0045944

positive regulation of transcription by RNA polymerase II

14565952

TgenePPP6R3

GO:0043666

regulation of phosphoprotein phosphatase activity

16716191


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BI055250MKL2chr16

14273089

+PPP6R3chr11

68334215

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-intronENST00000571589ENST00000393799MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000530427MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000393800MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000534534MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000524845MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000265637MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000524904MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000393801MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000265636MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000529710MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000571589ENST00000527403MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000393799MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000530427MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000393800MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000534534MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000524845MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000265637MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000524904MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000393801MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000265636MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000529710MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000574045ENST00000527403MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000393799MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000530427MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000393800MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000534534MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000524845MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000265637MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000524904MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000393801MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000265636MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000529710MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000318282ENST00000527403MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000393799MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000530427MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000393800MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000534534MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000524845MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000265637MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000524904MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000393801MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000265636MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000529710MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000572567ENST00000527403MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000393799MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000530427MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000393800MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000534534MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000524845MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000265637MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000524904MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000393801MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000265636MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000529710MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000341243ENST00000527403MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000393799MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000530427MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000393800MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000534534MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000524845MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000265637MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000524904MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000393801MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000265636MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000529710MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000575537ENST00000527403MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000393799MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000530427MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000393800MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000534534MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000524845MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000265637MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000524904MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000393801MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000265636MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000529710MKL2chr16

14273089

+PPP6R3chr11

68334215

+
intron-intronENST00000573051ENST00000527403MKL2chr16

14273089

+PPP6R3chr11

68334215

+

Top

FusionProtFeatures for MKL2_PPP6R3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MKL2

Q9ULH7

PPP6R3

Q5H9R7

Acts as a transcriptional coactivator of serum responsefactor (SRF). Required for skeletal myogenic differentiation.{ECO:0000269|PubMed:14565952}.

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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FusionGeneSequence for MKL2_PPP6R3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MKL2_PPP6R3


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


Top

RelatedDrugs for MKL2_PPP6R3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for MKL2_PPP6R3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMKL2C0008074Child Development Disorders, Pervasive1CTD_human