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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:MKL1-RBM15 (FusionGDB2 ID:53715)

Fusion Gene Summary for MKL1-RBM15

check button Fusion gene summary
Fusion gene informationFusion gene name: MKL1-RBM15
Fusion gene ID: 53715
HgeneTgene
Gene symbol

MKL1

RBM15

Gene ID

57591

64783

Gene namemyocardin related transcription factor ARNA binding motif protein 15
SynonymsBSAC|MAL|MKL|MKL1|MRTF-AOTT|OTT1|SPEN
Cytomap

22q13.1-q13.2

1p13.3

Type of geneprotein-codingprotein-coding
Descriptionmyocardin-related transcription factor AMKL/myocardin-like protein 1basic, SAP and coiled-coil domainmegakaryoblastic leukemia (translocation) 1megakaryoblastic leukemia 1 proteinmegakaryocytic acute leukemia proteinRNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1putative RNA-binding protein 15
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000355630, ENST00000396617, 
ENST00000402042, ENST00000466278, 
ENST00000407029, ENST00000402630, 
ENST00000369784, ENST00000487146, 
ENST00000602849, 
Fusion gene scores* DoF score46 X 26 X 16=191363 X 5 X 2=30
# samples 535
** MAII scorelog2(53/19136*10)=-5.17415312474754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MKL1 [Title/Abstract] AND RBM15 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBM15(110884907)-MKL1(40831559), # samples:2
MKL1(40859225)-RBM15(110888930), # samples:1
MKL1(40859224)-RBM15(110888161), # samples:1
MKL1(40859094)-RBM15(110886894), # samples:1
Anticipated loss of major functional domain due to fusion event.MKL1-RBM15 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MKL1-RBM15 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
MKL1-RBM15 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneMKL1

GO:0010735

positive regulation of transcription via serum response element binding

24440334

HgeneMKL1

GO:0044319

wound healing, spreading of cells

29391067

HgeneMKL1

GO:0045944

positive regulation of transcription by RNA polymerase II

14970199

TgeneRBM15

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

26575292

TgeneRBM15

GO:0001510

RNA methylation

27602518

TgeneRBM15

GO:0009048

dosage compensation by inactivation of X chromosome

27602518

TgeneRBM15

GO:0045652

regulation of megakaryocyte differentiation

26575292

TgeneRBM15

GO:0045892

negative regulation of transcription, DNA-templated

16129689


check buttonFusion gene breakpoints across MKL1 (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 RBM15 (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
ChiTaRS5.0N/AAF364036MKL1chr22

40859225

-RBM15chr1

110888930

+
ChiTaRS5.0N/AAF364037MKL1chr22

40859224

-RBM15chr1

110888161

+
ChiTaRS5.0N/AAJ312236MKL1chr22

40859094

-RBM15chr1

110886894

+


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Fusion Gene ORF analysis for MKL1-RBM15

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-3UTRENST00000355630ENST00000369784MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-3UTRENST00000355630ENST00000487146MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-intronENST00000355630ENST00000602849MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-3UTRENST00000396617ENST00000369784MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-3UTRENST00000396617ENST00000487146MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-intronENST00000396617ENST00000602849MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-3UTRENST00000402042ENST00000369784MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-3UTRENST00000402042ENST00000487146MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-intronENST00000402042ENST00000602849MKL1chr22

40859225

-RBM15chr1

110888930

+
intron-3UTRENST00000466278ENST00000369784MKL1chr22

40859225

-RBM15chr1

110888930

+
intron-3UTRENST00000466278ENST00000487146MKL1chr22

40859225

-RBM15chr1

110888930

+
intron-intronENST00000466278ENST00000602849MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-3UTRENST00000407029ENST00000369784MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-3UTRENST00000407029ENST00000487146MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-intronENST00000407029ENST00000602849MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-3UTRENST00000402630ENST00000369784MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-3UTRENST00000402630ENST00000487146MKL1chr22

40859225

-RBM15chr1

110888930

+
5CDS-intronENST00000402630ENST00000602849MKL1chr22

40859225

-RBM15chr1

110888930

+
Frame-shiftENST00000355630ENST00000369784MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000355630ENST00000487146MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000355630ENST00000602849MKL1chr22

40859224

-RBM15chr1

110888161

+
Frame-shiftENST00000396617ENST00000369784MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000396617ENST00000487146MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000396617ENST00000602849MKL1chr22

40859224

-RBM15chr1

110888161

+
Frame-shiftENST00000402042ENST00000369784MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000402042ENST00000487146MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000402042ENST00000602849MKL1chr22

40859224

-RBM15chr1

110888161

+
intron-3CDSENST00000466278ENST00000369784MKL1chr22

40859224

-RBM15chr1

110888161

+
intron-intronENST00000466278ENST00000487146MKL1chr22

40859224

-RBM15chr1

110888161

+
intron-intronENST00000466278ENST00000602849MKL1chr22

40859224

-RBM15chr1

110888161

+
Frame-shiftENST00000407029ENST00000369784MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000407029ENST00000487146MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000407029ENST00000602849MKL1chr22

40859224

-RBM15chr1

110888161

+
Frame-shiftENST00000402630ENST00000369784MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000402630ENST00000487146MKL1chr22

40859224

-RBM15chr1

110888161

+
5CDS-intronENST00000402630ENST00000602849MKL1chr22

40859224

-RBM15chr1

110888161

+
intron-intronENST00000355630ENST00000369784MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000355630ENST00000487146MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000355630ENST00000602849MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000396617ENST00000369784MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000396617ENST00000487146MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000396617ENST00000602849MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000402042ENST00000369784MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000402042ENST00000487146MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000402042ENST00000602849MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000466278ENST00000369784MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000466278ENST00000487146MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000466278ENST00000602849MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000407029ENST00000369784MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000407029ENST00000487146MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000407029ENST00000602849MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000402630ENST00000369784MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000402630ENST00000487146MKL1chr22

40859094

-RBM15chr1

110886894

+
intron-intronENST00000402630ENST00000602849MKL1chr22

40859094

-RBM15chr1

110886894

+

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 MKL1-RBM15


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 MKL1-RBM15


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
..
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: 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.

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 MKL1-RBM15


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 MKL1-RBM15


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 MKL1-RBM15


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 MKL1-RBM15


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRBM15C4706584Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)1ORPHANET