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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:NOL4L-EFCAB8 (FusionGDB2 ID:HG140688TG388795)

Fusion Gene Summary for NOL4L-EFCAB8

check button Fusion gene summary
Fusion gene informationFusion gene name: NOL4L-EFCAB8
Fusion gene ID: hg140688tg388795
HgeneTgene
Gene symbol

NOL4L

EFCAB8

Gene ID

140688

388795

Gene namenucleolar protein 4 likeEF-hand calcium binding domain 8
SynonymsC20orf112|C20orf113-
Cytomap('C20orf112','NOL4L')('EFCAB8','EFCAB8')

20q11.21

20q11.21

Type of geneprotein-codingprotein-coding
Descriptionnucleolar protein 4-likeEF-hand calcium-binding domain-containing protein 8EF-hand domain-containing protein ENSP00000383366
Modification date2020031320200313
UniProtAcc.

A8MWE9

Ensembl transtripts involved in fusion geneENST00000359676, ENST00000475781, 
ENST00000201961, ENST00000326071, 
ENST00000375677, ENST00000375678, 
Fusion gene scores* DoF score4 X 7 X 4=1128 X 6 X 5=240
# samples 58
** MAII scorelog2(5/112*10)=-1.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NOL4L [Title/Abstract] AND EFCAB8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC20orf112(31043921)-EFCAB8(31494368), # samples:1
NOL4L(31043921)-EFCAB8(31494649), # samples:1
Anticipated loss of major functional domain due to fusion event.C20orf112-EFCAB8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
C20orf112-EFCAB8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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

check buttonFusion gene breakpoints across C20orf112 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across EFCAB8 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4SKCMTCGA-EE-A3AG-06AC20orf112chr20

31043921

-EFCAB8chr20

31494368

+
ChimerDB4SKCMTCGA-EE-A3AG-06ANOL4Lchr20

31043921

-EFCAB8chr20

31494649

+


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Fusion Gene ORF analysis for NOL4L-EFCAB8

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-intronENST00000359676ENST00000524882C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
5UTR-3CDSENST00000475781ENST00000400522C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
5UTR-intronENST00000475781ENST00000524882C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
In-frameENST00000359676ENST00000400522C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
intron-3CDSENST00000201961ENST00000400522C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
intron-3CDSENST00000326071ENST00000400522C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
intron-3CDSENST00000375677ENST00000400522C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
intron-3CDSENST00000375678ENST00000400522C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
intron-intronENST00000201961ENST00000524882C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
intron-intronENST00000326071ENST00000524882C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
intron-intronENST00000375677ENST00000524882C20orf112chr20

31043921

-EFCAB8chr20

31494368

+
intron-intronENST00000375678ENST00000524882C20orf112chr20

31043921

-EFCAB8chr20

31494368

+

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)
ENST00000359676C20orf112chr2031043921-ENST00000400522EFCAB8chr2031494368+62953041571176

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
ENST00000359676ENST00000400522C20orf112chr2031043921-EFCAB8chr2031494368+0.0071332350.99286675

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Fusion Genomic Features for NOL4L-EFCAB8


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)
C20orf112chr2031043920-EFCAB8chr2031494367+0.0014693120.9985306
C20orf112chr2031043920-EFCAB8chr2031494367+0.0014693120.9985306

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.
genomic feature

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 NOL4L-EFCAB8


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/:31043921/:31494368)
- 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
.EFCAB8

A8MWE9

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
HgeneC20orf112chr20:31043921chr20:31494368ENST00000359676-38161_169129437.0Compositional biasNote=Poly-Asp
TgeneEFCAB8chr20:31043921chr20:31494368ENST00000400522101352_86362395.6666666666667DomainEF-hand 1
TgeneEFCAB8chr20:31043921chr20:31494368ENST00000400522101387_122362395.6666666666667DomainEF-hand 2


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Fusion Gene Sequence for NOL4L-EFCAB8


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.
>11461_11461_1_C20orf112-EFCAB8_C20orf112_chr20_31043921_ENST00000359676_EFCAB8_chr20_31494368_ENST00000400522_length(transcript)=629nt_BP=530nt
CCGCGGCGGCAGCAGCAGCAGCAGCAGCTGGAGCTGTGGGGCTGTCACCGCCGCCCGCCCCGCTCACTCGCGGATCCCGACCGCCCATCT
CCGCCTCGCTTCCAGCCCAGGATGAGACTTCTGTGAGCAGCGAGGATTTTGATATGAGCGACTCCACATGGATGTCAGCTGACCCGCACC
TGGCCTCCAGCCTGAGCCCCAGCCAGGACGAGAGGATGCGGAGCCCGCAGAACCTCCACAGTCAAGAGGACGATGACTCCTCCTCTGAGA
GTGGCAGCGGCAATGGCTCCTCCACCCTGAACCCATCCACGTCGAGCAGCACGCAGGGCGACCCTGCCTTCCCCGAGATGAATGGCAACG
GCGCCGTGGCCCCCATGGACTTCACCACGGCCGCCGAGGATCAGCCCATCAACCTGTGTGACAAGCTCCCGCCGGCCACGGCACTTGGCA
CAGCCTCCTACCCCTCGGATGGCTGCGGTGCCGACGGGCTGCGGAGCCGCGTCAAATACGGGGTGAAGACCACCCCCGAGGTTGTCAGTG

>11461_11461_1_C20orf112-EFCAB8_C20orf112_chr20_31043921_ENST00000359676_EFCAB8_chr20_31494368_ENST00000400522_length(amino acids)=176AA_BP=
MSPPPAPLTRGSRPPISASLPAQDETSVSSEDFDMSDSTWMSADPHLASSLSPSQDERMRSPQNLHSQEDDDSSSESGSGNGSSTLNPST

--------------------------------------------------------------

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Fusion Gene PPI Analysis for NOL4L-EFCAB8


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 NOL4L-EFCAB8


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 NOL4L-EFCAB8


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