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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:ENC1-RBM4 (FusionGDB2 ID:26548)

Fusion Gene Summary for ENC1-RBM4

check button Fusion gene summary
Fusion gene informationFusion gene name: ENC1-RBM4
Fusion gene ID: 26548
HgeneTgene
Gene symbol

ENC1

RBM4

Gene ID

8507

5936

Gene nameectodermal-neural cortex 1RNA binding motif protein 4
SynonymsCCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10LARK|RBM4A|ZCCHC21|ZCRB3A
Cytomap

5q13.3

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionectoderm-neural cortex protein 1ectodermal-neural cortex 1 (with BTB domain)ectodermal-neural cortex 1 (with BTB-like domain)kelch-like 35kelch-like family member 37kelch-like protein 37nuclear matrix protein NRP/Bnuclear restricted protein, BTB doRNA-binding protein 4RNA-binding motif protein 4alark homologtranscriptional coactivator CoAZzinc finger CCHC-type and RNA binding motif 3A
Modification date2020031320200322
UniProtAcc

O14682

.
Ensembl transtripts involved in fusion geneENST00000302351, ENST00000510316, 
ENST00000537006, ENST00000509284, 
ENST00000310092, ENST00000396053, 
ENST00000398692, ENST00000408993, 
ENST00000409406, ENST00000483858, 
ENST00000503028, ENST00000506523, 
ENST00000530235, ENST00000532968, 
ENST00000578778, ENST00000514361, 
ENST00000515838, 
Fusion gene scores* DoF score11 X 4 X 3=1327 X 10 X 4=280
# samples 1011
** MAII scorelog2(10/132*10)=-0.400537929583729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/280*10)=-1.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ENC1 [Title/Abstract] AND RBM4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointENC1(73936132)-RBM4(66407171), # 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
HgeneENC1

GO:0010499

proteasomal ubiquitin-independent protein catabolic process

19424503

HgeneENC1

GO:0016567

protein ubiquitination

15983046

HgeneENC1

GO:0017148

negative regulation of translation

19424503

TgeneRBM4

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

12628928|16260624|16777844|16934801|21518792

TgeneRBM4

GO:0002190

cap-independent translational initiation

17284590

TgeneRBM4

GO:0002192

IRES-dependent translational initiation of linear mRNA

17284590

TgeneRBM4

GO:0017148

negative regulation of translation

17284590

TgeneRBM4

GO:0032055

negative regulation of translation in response to stress

17284590

TgeneRBM4

GO:0035278

miRNA mediated inhibition of translation

19801630

TgeneRBM4

GO:0045947

negative regulation of translational initiation

19801630

TgeneRBM4

GO:0046685

response to arsenic-containing substance

17284590

TgeneRBM4

GO:0046822

regulation of nucleocytoplasmic transport

12628928|17284590

TgeneRBM4

GO:0051149

positive regulation of muscle cell differentiation

21518792


check buttonFusion gene breakpoints across ENC1 (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 RBM4 (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
ChimerDB4STADTCGA-EQ-8122-01AENC1chr5

73936132

-RBM4chr11

66407171

+


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Fusion Gene ORF analysis for ENC1-RBM4

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
5UTR-5UTRENST00000302351ENST00000310092ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000396053ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000398692ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000408993ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000409406ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000483858ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000503028ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000506523ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000530235ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000532968ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000302351ENST00000578778ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000310092ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000396053ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000398692ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000408993ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000409406ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000483858ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000503028ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000506523ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000530235ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000532968ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000510316ENST00000578778ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000310092ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000396053ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000398692ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000408993ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000409406ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000483858ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000503028ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000506523ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000530235ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000532968ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-5UTRENST00000537006ENST00000578778ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-intronENST00000302351ENST00000514361ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-intronENST00000302351ENST00000515838ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-intronENST00000510316ENST00000514361ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-intronENST00000510316ENST00000515838ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-intronENST00000537006ENST00000514361ENC1chr5

73936132

-RBM4chr11

66407171

+
5UTR-intronENST00000537006ENST00000515838ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000310092ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000396053ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000398692ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000408993ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000409406ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000483858ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000503028ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000506523ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000530235ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000532968ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-5UTRENST00000509284ENST00000578778ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-intronENST00000509284ENST00000514361ENC1chr5

73936132

-RBM4chr11

66407171

+
intron-intronENST00000509284ENST00000515838ENC1chr5

73936132

-RBM4chr11

66407171

+

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 ENC1-RBM4


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)
ENC1chr573936131-RBM4chr1166407170+0.0001025620.9998975
ENC1chr573936131-RBM4chr1166407170+0.0001025620.9998975

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.
genomic feature of top 1%

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Fusion Protein Features for ENC1-RBM4


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/:73936132/:66407171)
- 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
ENC1

O14682

.
FUNCTION: Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism. {ECO:0000269|PubMed:19424503}.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 ENC1-RBM4


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 ENC1-RBM4


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 ENC1-RBM4


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 ENC1-RBM4


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