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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:MKL2-RBFOX1 (FusionGDB2 ID:53749)

Fusion Gene Summary for MKL2-RBFOX1

check button Fusion gene summary
Fusion gene informationFusion gene name: MKL2-RBFOX1
Fusion gene ID: 53749
HgeneTgene
Gene symbol

MKL2

RBFOX1

Gene ID

57496

54715

Gene namemyocardin related transcription factor BRNA binding fox-1 homolog 1
SynonymsMKL2|MRTF-B|NPD0012BP1|A2BP1|FOX-1|FOX1|HRNBP1
Cytomap

16p13.12

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionmyocardin-related transcription factor BCTA-276F8.1MKL and myocardin family member 2MKL/myocardin like 2MKL/myocardin-like protein 2MKL1/myocardin like 2megakaryoblastic leukemia 2RNA binding protein fox-1 homolog 1RNA binding protein, fox-1 homolog 1ataxin 2-binding protein 1fox-1 homolog Afox-1-like RNA-binding protein 1hexaribonucleotide binding protein 1 isoform alphahexaribonucleotide binding protein 1 isoform betahexar
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000571589, ENST00000574045, 
ENST00000318282, ENST00000572567, 
ENST00000341243, ENST00000575537, 
ENST00000573051, 		ENST00000550418, 
ENST00000553186, ENST00000547372, 
ENST00000422070, ENST00000535565, 
ENST00000547427, ENST00000552089, 
ENST00000547338, ENST00000436368, 
ENST00000311745, ENST00000355637, 
ENST00000340209, 
Fusion gene scores* DoF score19 X 10 X 11=209036 X 34 X 8=9792
# samples 2039
** MAII scorelog2(20/2090*10)=-3.38543103719352
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(39/9792*10)=-4.65005752894304
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MKL2 [Title/Abstract] AND RBFOX1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMKL2(14234617)-RBFOX1(7568149), # samples:3
Anticipated loss of major functional domain due to fusion event.MKL2-RBFOX1 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
HgeneMKL2

GO:0045844

positive regulation of striated muscle tissue development

14565952

HgeneMKL2

GO:0045944

positive regulation of transcription by RNA polymerase II

14565952


check buttonFusion gene breakpoints across MKL2 (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 RBFOX1 (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
ChimerDB4OVTCGA-24-1842-01AMKL2chr16

14234617

+RBFOX1chr16

7568149

+
ChimerDB4OVTCGA-24-1842-01AMKL2chr16

14234617

+RBFOX1chr16

7568149

+
ChimerDB4OVTCGA-24-1842-01AMKL2chr16

14234617

-RBFOX1chr16

7568149

+


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Fusion Gene ORF analysis for MKL2-RBFOX1

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
Frame-shiftENST00000571589ENST00000550418MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000571589ENST00000553186MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000571589ENST00000547372MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000571589ENST00000422070MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000571589ENST00000535565MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000571589ENST00000547427MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000571589ENST00000552089MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000571589ENST00000547338MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000571589ENST00000436368MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000571589ENST00000311745MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000571589ENST00000355637MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000571589ENST00000340209MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000574045ENST00000550418MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000574045ENST00000553186MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000574045ENST00000547372MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000574045ENST00000422070MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000574045ENST00000535565MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000574045ENST00000547427MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000574045ENST00000552089MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000574045ENST00000547338MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000574045ENST00000436368MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000574045ENST00000311745MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000574045ENST00000355637MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000574045ENST00000340209MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000318282ENST00000550418MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000318282ENST00000553186MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000318282ENST00000547372MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000318282ENST00000422070MKL2chr16

14234617

+RBFOX1chr16

7568149

+
Frame-shiftENST00000318282ENST00000535565MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000318282ENST00000547427MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000318282ENST00000552089MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000318282ENST00000547338MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000318282ENST00000436368MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000318282ENST00000311745MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000318282ENST00000355637MKL2chr16

14234617

+RBFOX1chr16

7568149

+
5CDS-intronENST00000318282ENST00000340209MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000572567ENST00000550418MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000572567ENST00000553186MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000572567ENST00000547372MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000572567ENST00000422070MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000572567ENST00000535565MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000572567ENST00000547427MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000572567ENST00000552089MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000572567ENST00000547338MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000572567ENST00000436368MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000572567ENST00000311745MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000572567ENST00000355637MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000572567ENST00000340209MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000341243ENST00000550418MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000341243ENST00000553186MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000341243ENST00000547372MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000341243ENST00000422070MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000341243ENST00000535565MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000341243ENST00000547427MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000341243ENST00000552089MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000341243ENST00000547338MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000341243ENST00000436368MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000341243ENST00000311745MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000341243ENST00000355637MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000341243ENST00000340209MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-3CDSENST00000575537ENST00000550418MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-3CDSENST00000575537ENST00000553186MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-3CDSENST00000575537ENST00000547372MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-3CDSENST00000575537ENST00000422070MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-3CDSENST00000575537ENST00000535565MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-intronENST00000575537ENST00000547427MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-intronENST00000575537ENST00000552089MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-intronENST00000575537ENST00000547338MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-intronENST00000575537ENST00000436368MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-intronENST00000575537ENST00000311745MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-intronENST00000575537ENST00000355637MKL2chr16

14234617

+RBFOX1chr16

7568149

+
3UTR-intronENST00000575537ENST00000340209MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000573051ENST00000550418MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000573051ENST00000553186MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000573051ENST00000547372MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000573051ENST00000422070MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-3CDSENST00000573051ENST00000535565MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000573051ENST00000547427MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000573051ENST00000552089MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000573051ENST00000547338MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000573051ENST00000436368MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000573051ENST00000311745MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000573051ENST00000355637MKL2chr16

14234617

+RBFOX1chr16

7568149

+
intron-intronENST00000573051ENST00000340209MKL2chr16

14234617

+RBFOX1chr16

7568149

+

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 MKL2-RBFOX1


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 MKL2-RBFOX1


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 MKL2-RBFOX1


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 MKL2-RBFOX1


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 MKL2-RBFOX1


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 MKL2-RBFOX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRBFOX1C0004352Autistic Disorder2CTD_human
TgeneRBFOX1C0022333Jacksonian Seizure1CTD_human
TgeneRBFOX1C0036572Seizures1CTD_human
TgeneRBFOX1C0149958Complex partial seizures1CTD_human
TgeneRBFOX1C0234533Generalized seizures1CTD_human
TgeneRBFOX1C0234535Clonic Seizures1CTD_human
TgeneRBFOX1C0270824Visual seizure1CTD_human
TgeneRBFOX1C0270844Tonic Seizures1CTD_human
TgeneRBFOX1C0270846Epileptic drop attack1CTD_human
TgeneRBFOX1C0422850Seizures, Somatosensory1CTD_human
TgeneRBFOX1C0422852Seizures, Auditory1CTD_human
TgeneRBFOX1C0422853Olfactory seizure1CTD_human
TgeneRBFOX1C0422854Gustatory seizure1CTD_human
TgeneRBFOX1C0422855Vertiginous seizure1CTD_human
TgeneRBFOX1C0494475Tonic - clonic seizures1CTD_human
TgeneRBFOX1C0751056Non-epileptic convulsion1CTD_human
TgeneRBFOX1C0751110Single Seizure1CTD_human
TgeneRBFOX1C0751123Atonic Absence Seizures1CTD_human
TgeneRBFOX1C0751494Convulsive Seizures1CTD_human
TgeneRBFOX1C0751495Seizures, Focal1CTD_human
TgeneRBFOX1C0751496Seizures, Sensory1CTD_human
TgeneRBFOX1C3495874Nonepileptic Seizures1CTD_human
TgeneRBFOX1C4048158Convulsions1CTD_human
TgeneRBFOX1C4316903Absence Seizures1CTD_human
TgeneRBFOX1C4317109Epileptic Seizures1CTD_human
TgeneRBFOX1C4317123Myoclonic Seizures1CTD_human
TgeneRBFOX1C4505436Generalized Absence Seizures1CTD_human