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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:HNRNPR-MEF2C (FusionGDB2 ID:37292)

Fusion Gene Summary for HNRNPR-MEF2C

check button Fusion gene summary
Fusion gene informationFusion gene name: HNRNPR-MEF2C
Fusion gene ID: 37292
HgeneTgene
Gene symbol

HNRNPR

MEF2C

Gene ID

10236

4208

Gene nameheterogeneous nuclear ribonucleoprotein Rmyocyte enhancer factor 2C
SynonymsHNRPR|hnRNP-RC5DELq14.3|DEL5q14.3
Cytomap

1p36.12

5q14.3

Type of geneprotein-codingprotein-coding
Descriptionheterogeneous nuclear ribonucleoprotein Rmyocyte-specific enhancer factor 2CMADS box transcription enhancer factor 2, polypeptide C
Modification date2020031520200329
UniProtAcc

O43390

Q06413

Ensembl transtripts involved in fusion geneENST00000302271, ENST00000374612, 
ENST00000374616, ENST00000426846, 
ENST00000427764, ENST00000476660, 
ENST00000478691, ENST00000606561, 
ENST00000340208, ENST00000424173, 
ENST00000437473, ENST00000504921, 
ENST00000506554, ENST00000510942, 
ENST00000514028, ENST00000503554, 
ENST00000508569, ENST00000514015, 
ENST00000539796, 
Fusion gene scores* DoF score6 X 5 X 4=12011 X 9 X 4=396
# samples 711
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/396*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HNRNPR [Title/Abstract] AND MEF2C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHNRNPR(23670788)-MEF2C(88017364), # 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
TgeneMEF2C

GO:0000165

MAPK cascade

9858528

TgeneMEF2C

GO:0006355

regulation of transcription, DNA-templated

24008018

TgeneMEF2C

GO:0010628

positive regulation of gene expression

9857019|21556048

TgeneMEF2C

GO:0030279

negative regulation of ossification

17696759

TgeneMEF2C

GO:0045893

positive regulation of transcription, DNA-templated

17696759

TgeneMEF2C

GO:0045944

positive regulation of transcription by RNA polymerase II

8455629|15486975|16043483

TgeneMEF2C

GO:0071374

cellular response to parathyroid hormone stimulus

17696759

TgeneMEF2C

GO:0071560

cellular response to transforming growth factor beta stimulus

9770491

TgeneMEF2C

GO:1904706

negative regulation of vascular smooth muscle cell proliferation

28799067

TgeneMEF2C

GO:1904753

negative regulation of vascular associated smooth muscle cell migration

28799067

TgeneMEF2C

GO:2000727

positive regulation of cardiac muscle cell differentiation

9857019

TgeneMEF2C

GO:2001016

positive regulation of skeletal muscle cell differentiation

21556048


check buttonFusion gene breakpoints across HNRNPR (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 MEF2C (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/ABG613451HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-


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Fusion Gene ORF analysis for HNRNPR-MEF2C

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-3UTRENST00000302271ENST00000340208HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000302271ENST00000424173HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000302271ENST00000437473HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000302271ENST00000504921HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000302271ENST00000506554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000302271ENST00000510942HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000302271ENST00000514028HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374612ENST00000340208HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374612ENST00000424173HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374612ENST00000437473HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374612ENST00000504921HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374612ENST00000506554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374612ENST00000510942HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374612ENST00000514028HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374616ENST00000340208HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374616ENST00000424173HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374616ENST00000437473HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374616ENST00000504921HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374616ENST00000506554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374616ENST00000510942HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000374616ENST00000514028HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000426846ENST00000340208HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000426846ENST00000424173HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000426846ENST00000437473HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000426846ENST00000504921HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000426846ENST00000506554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000426846ENST00000510942HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000426846ENST00000514028HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000427764ENST00000340208HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000427764ENST00000424173HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000427764ENST00000437473HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000427764ENST00000504921HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000427764ENST00000506554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000427764ENST00000510942HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000427764ENST00000514028HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000476660ENST00000340208HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000476660ENST00000424173HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000476660ENST00000437473HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000476660ENST00000504921HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000476660ENST00000506554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000476660ENST00000510942HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000476660ENST00000514028HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000478691ENST00000340208HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000478691ENST00000424173HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000478691ENST00000437473HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000478691ENST00000504921HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000478691ENST00000506554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000478691ENST00000510942HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000478691ENST00000514028HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000606561ENST00000340208HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000606561ENST00000424173HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000606561ENST00000437473HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000606561ENST00000504921HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000606561ENST00000506554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000606561ENST00000510942HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-3UTRENST00000606561ENST00000514028HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000302271ENST00000503554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000302271ENST00000508569HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000302271ENST00000514015HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000302271ENST00000539796HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000374612ENST00000503554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000374612ENST00000508569HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000374612ENST00000514015HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000374612ENST00000539796HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000374616ENST00000503554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000374616ENST00000508569HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000374616ENST00000514015HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000374616ENST00000539796HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000426846ENST00000503554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000426846ENST00000508569HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000426846ENST00000514015HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000426846ENST00000539796HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000427764ENST00000503554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000427764ENST00000508569HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000427764ENST00000514015HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000427764ENST00000539796HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000476660ENST00000503554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000476660ENST00000508569HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000476660ENST00000514015HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000476660ENST00000539796HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000478691ENST00000503554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000478691ENST00000508569HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000478691ENST00000514015HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000478691ENST00000539796HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000606561ENST00000503554HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000606561ENST00000508569HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000606561ENST00000514015HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-
intron-intronENST00000606561ENST00000539796HNRNPRchr1

23670788

-MEF2Cchr5

88017364

-

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 HNRNPR-MEF2C


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 HNRNPR-MEF2C


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/:23670788/:88017364)
- 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
HNRNPR

O43390

MEF2C

Q06413

FUNCTION: Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus.FUNCTION: Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoforms that lack the repressor domain are more active than isoform 1. {ECO:0000250|UniProtKB:Q8CFN5, ECO:0000269|PubMed:11904443, ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15831463, ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:9069290, ECO:0000269|PubMed:9384584}.

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 HNRNPR-MEF2C


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 HNRNPR-MEF2C


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 HNRNPR-MEF2C


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 HNRNPR-MEF2C


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