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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:EVA1C-CBR3 (FusionGDB2 ID:HG59271TG874)

Fusion Gene Summary for EVA1C-CBR3

check button Fusion gene summary
Fusion gene informationFusion gene name: EVA1C-CBR3
Fusion gene ID: hg59271tg874
HgeneTgene
Gene symbol

EVA1C

CBR3

Gene ID

59271

874

Gene nameeva-1 homolog Ccarbonyl reductase 3
SynonymsB18|B19|C21orf63|C21orf64|FAM176C|PRED34|SUE21HEL-S-25|SDR21C2|hCBR3
Cytomap('C21orf63','EVA1C')('CBR3','CBR3')

21q22.11

21q22.12

Type of geneprotein-codingprotein-coding
Descriptionprotein eva-1 homolog Cfamily with sequence similarity 176, member Cprotein FAM176Ccarbonyl reductase [NADPH] 3NADPH-dependent carbonyl reductase 3carbonyl reductase (NADPH) 3epididymis secretory protein Li 25short chain dehydrogenase/reductase family 21C member 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000300255, ENST00000382699, 
ENST00000401402, ENST00000485488, 
Fusion gene scores* DoF score12 X 7 X 8=6723 X 3 X 4=36
# samples 135
** MAII scorelog2(13/672*10)=-2.36994960975031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EVA1C [Title/Abstract] AND CBR3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEVA1C(33825816)-CBR3(37518374), # samples:2
C21orf63(33825816)-CBR3(37518374), # samples:1
Anticipated loss of major functional domain due to fusion event.EVA1C-CBR3 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.
EVA1C-CBR3 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.
EVA1C-CBR3 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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

check buttonFusion gene breakpoints across EVA1C (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 CBR3 (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
ChimerDB4PRADTCGA-KK-A6E1-01AC21orf63chr21

33825816

-CBR3chr21

37518374

+
ChimerDB4PRADTCGA-KK-A6E1-01AEVA1Cchr21

33825816

+CBR3chr21

37518374

+
ChimerDB4PRADTCGA-KK-A6E1EVA1Cchr21

33785321

+CBR3chr21

37518374

+
ChimerDB4PRADTCGA-KK-A6E1EVA1Cchr21

33825816

+CBR3chr21

37518374

+


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Fusion Gene ORF analysis for EVA1C-CBR3

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-shiftENST00000300255ENST00000290354EVA1Cchr21

33785321

+CBR3chr21

37518374

+
Frame-shiftENST00000382699ENST00000290354EVA1Cchr21

33785321

+CBR3chr21

37518374

+
Frame-shiftENST00000401402ENST00000290354EVA1Cchr21

33785321

+CBR3chr21

37518374

+
In-frameENST00000300255ENST00000290354EVA1Cchr21

33825816

+CBR3chr21

37518374

+
In-frameENST00000382699ENST00000290354EVA1Cchr21

33825816

+CBR3chr21

37518374

+
In-frameENST00000401402ENST00000290354EVA1Cchr21

33825816

+CBR3chr21

37518374

+
intron-3CDSENST00000485488ENST00000290354EVA1Cchr21

33825816

+CBR3chr21

37518374

+
intron-3CDSENST00000485488ENST00000290354EVA1Cchr21

33785321

+CBR3chr21

37518374

+

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)
ENST00000300255EVA1Cchr2133825816+ENST00000290354CBR3chr2137518374+132183061496172
ENST00000401402EVA1Cchr2133825816+ENST00000290354CBR3chr2137518374+1017526501962153
ENST00000382699EVA1Cchr2133825816+ENST00000290354CBR3chr2137518374+1000509484945153

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
ENST00000300255ENST00000290354EVA1Cchr2133825816+CBR3chr2137518374+0.260078940.7399211
ENST00000401402ENST00000290354EVA1Cchr2133825816+CBR3chr2137518374+0.243096170.7569038
ENST00000382699ENST00000290354EVA1Cchr2133825816+CBR3chr2137518374+0.158710210.84128976

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Fusion Genomic Features for EVA1C-CBR3


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)
EVA1Cchr2133825816+CBR3chr2137518373+4.91E-060.9999951
EVA1Cchr2133825816+CBR3chr2137518373+4.91E-060.9999951
EVA1Cchr2133785321+CBR3chr2137518373+8.02E-080.9999999
EVA1Cchr2133825816+CBR3chr2137518373+4.91E-060.9999951
EVA1Cchr2133825816+CBR3chr2137518373+4.91E-060.9999951
EVA1Cchr2133785321+CBR3chr2137518373+8.02E-080.9999999

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 EVA1C-CBR3


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/chr21:33825816/chr21:37518374)
- 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
..
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}.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
TgeneCBR3chr21:33825816chr21:37518374ENST0000029035413194_198132278.0Nucleotide bindingNADP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEVA1Cchr21:33825816chr21:37518374ENST00000300255+28373_379119442.0Compositional biasNote=Poly-Glu
HgeneEVA1Cchr21:33825816chr21:37518374ENST00000300255+28168_260119442.0DomainSUEL-type lectin 2
HgeneEVA1Cchr21:33825816chr21:37518374ENST00000300255+2867_159119442.0DomainSUEL-type lectin 1
HgeneEVA1Cchr21:33825816chr21:37518374ENST00000300255+28344_441119442.0Topological domainCytoplasmic
HgeneEVA1Cchr21:33825816chr21:37518374ENST00000300255+2849_322119442.0Topological domainExtracellular
HgeneEVA1Cchr21:33825816chr21:37518374ENST00000300255+28323_343119442.0TransmembraneHelical
TgeneCBR3chr21:33825816chr21:37518374ENST000002903541310_34132278.0Nucleotide bindingNADP
TgeneCBR3chr21:33825816chr21:37518374ENST000002903541338_42132278.0Nucleotide bindingNADP
TgeneCBR3chr21:33825816chr21:37518374ENST000002903541363_64132278.0Nucleotide bindingNADP


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Fusion Gene Sequence for EVA1C-CBR3


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.
>27757_27757_1_EVA1C-CBR3_EVA1C_chr21_33825816_ENST00000300255_CBR3_chr21_37518374_ENST00000290354_length(transcript)=1321nt_BP=830nt
GGGCGAGGCTGGCACCCGGCCAGCGCGGGCAGGGCCACGGGTGCCCGGCTGTTTCCCGGGTGTGGAAGGCGCTCAAGGTGCGCGGCCCGG
GGCGCGCTACTGGGGGCGCCCTCCGCGGTGGGCAGCGCGCCAGGGATCGGCCTGGGCAGCCGCGGGGCGCGCGAAGGCTGCGCTTTCCCT
ACGGCCCCCCTCGCTTCCTCCGGCACGGCGGCAACGGAGATTTCCTCTCGGGGAAACTACGCGGATCCTTTTCGGGGATCCTCGCCCCGC
CCCAGTTCTCCGCCCCCTCCCCTTTGCTGGGGCGCCTGGGCTGGCCCGCGCAGGGGAGGAGGCTCTGGCAGCCTGGGCAGGGAGGCGGCG
GGGGGCCGCGGAGCCGCTGGCCATCGATTCTCCCCGCCATGTGACGCCGTCCTTAGCCCTGCGACCCCCAGCGCGTCCCGGGCCTGCGCC
TCCGCCCCGCCGCGCAGCGCACGATGCTTCTGCCGGGACGCGCACGCCAACCGCCGACGCCCCAGCCCGTGCAGCATCCCGGCCTCCGCC
GGCAGGTAGAGCCGCCGGGGCAGCTCCTGCGCCTCTTCTACTGCACTGTCCTGGTCTGCTCCAAAGAGATCTCAGCGCTCACCGACTTCT
CTGGTTACCTAACCAAACTCCTGCAAAACCACACCACCTATGCCTGTGATGGGGACTATTTGAATCTACAGTGCCCTCGGCATTCTACGA
TAAGTGTCCAATCGGCATTTTATGGGCAAGATTACCAAATGTGTAGTTCCCAGAAGCCTGCCTCCCAGAGGGAAGACAGCTTAACCTGTG
TGGCAGCCACCACCTTCCAGGGAGAGTGGTGAATATCAGTAGTTTGCAGTGTTTAAGGGCTTTTGAAAACTGCAGTGAAGATCTGCAGGA
AAGGTTCCACAGTGAGACACTCACAGAAGGAGACCTGGTGGATCTCATGAAAAAGTTTGTGGAGGACACAAAAAATGAGGTGCATGAGAG
GGAAGGCTGGCCCAACTCACCTTATGGGGTGTCCAAGTTGGGGGTCACGGTCTTATCGAGGATCCTGGCCAGGCGTCTGGATGAGAAGAG
GAAAGCTGACAGGATTCTGGTGAATGCGTGCTGCCCAGGACCAGTGAAGACAGACATGGATGGGAAAGACAGCATCAGGACTGTGGAGGA
GGGGGCTGAGACCCCTGTCTACTTGGCCCTCTTGCCTCCAGATGCCACTGAGCCACAAGGCCAGTTGGTCCATGACAAAGTTGTGCAAAA

>27757_27757_1_EVA1C-CBR3_EVA1C_chr21_33825816_ENST00000300255_CBR3_chr21_37518374_ENST00000290354_length(amino acids)=172AA_BP=
MRSLWSRPGQCSRRGAGAAPAALPAGGGRDAARAGASAVGVRVPAEASCAARRGGGAGPGRAGGRRAKDGVTWRGESMASGSAAPRRLPA

--------------------------------------------------------------
>27757_27757_2_EVA1C-CBR3_EVA1C_chr21_33825816_ENST00000382699_CBR3_chr21_37518374_ENST00000290354_length(transcript)=1000nt_BP=509nt
AGGGGAGGAGGCTCTGGCAGCCTGGGCAGGGAGGCGGCGGGGGGCCGCGGAGCCGCTGGCCATCGATTCTCCCCGCCATGTGACGCCGTC
CTTAGCCCTGCGACCCCCAGCGCGTCCCGGGCCTGCGCCTCCGCCCCGCCGCGCAGCGCACGATGCTTCTGCCGGGACGCGCACGCCAAC
CGCCGACGCCCCAGCCCGTGCAGCATCCCGGCCTCCGCCGGCAGGTAGAGCCGCCGGGGCAGCTCCTGCGCCTCTTCTACTGCACTGTCC
TGGTCTGCTCCAAAGAGATCTCAGCGCTCACCGACTTCTCTGGTTACCTAACCAAACTCCTGCAAAACCACACCACCTATGCCTGTGATG
GGGACTATTTGAATCTACAGTGCCCTCGGCATTCTACGATAAGTGTCCAATCGGCATTTTATGGGCAAGATTACCAAATGTGTAGTTCCC
AGAAGCCTGCCTCCCAGAGGGAAGACAGCTTAACCTGTGTGGCAGCCACCACCTTCCAGGGAGAGTGGTGAATATCAGTAGTTTGCAGTG
TTTAAGGGCTTTTGAAAACTGCAGTGAAGATCTGCAGGAAAGGTTCCACAGTGAGACACTCACAGAAGGAGACCTGGTGGATCTCATGAA
AAAGTTTGTGGAGGACACAAAAAATGAGGTGCATGAGAGGGAAGGCTGGCCCAACTCACCTTATGGGGTGTCCAAGTTGGGGGTCACGGT
CTTATCGAGGATCCTGGCCAGGCGTCTGGATGAGAAGAGGAAAGCTGACAGGATTCTGGTGAATGCGTGCTGCCCAGGACCAGTGAAGAC
AGACATGGATGGGAAAGACAGCATCAGGACTGTGGAGGAGGGGGCTGAGACCCCTGTCTACTTGGCCCTCTTGCCTCCAGATGCCACTGA
GCCACAAGGCCAGTTGGTCCATGACAAAGTTGTGCAAAACTGGTAAACGTCTGCTTCGGAGCTTGCTGCTTAATAAATGTTGGTGGAATG

>27757_27757_2_EVA1C-CBR3_EVA1C_chr21_33825816_ENST00000382699_CBR3_chr21_37518374_ENST00000290354_length(amino acids)=153AA_BP=8
MCGSHHLPGRVVNISSLQCLRAFENCSEDLQERFHSETLTEGDLVDLMKKFVEDTKNEVHEREGWPNSPYGVSKLGVTVLSRILARRLDE

--------------------------------------------------------------
>27757_27757_3_EVA1C-CBR3_EVA1C_chr21_33825816_ENST00000401402_CBR3_chr21_37518374_ENST00000290354_length(transcript)=1017nt_BP=526nt
CCTGGGCTGGCCCGCGCAGGGGAGGAGGCTCTGGCAGCCTGGGCAGGGAGGCGGCGGGGGGCCGCGGAGCCGCTGGCCATCGATTCTCCC
CGCCATGTGACGCCGTCCTTAGCCCTGCGACCCCCAGCGCGTCCCGGGCCTGCGCCTCCGCCCCGCCGCGCAGCGCACGATGCTTCTGCC
GGGACGCGCACGCCAACCGCCGACGCCCCAGCCCGTGCAGCATCCCGGCCTCCGCCGGCAGGTAGAGCCGCCGGGGCAGCTCCTGCGCCT
CTTCTACTGCACTGTCCTGGTCTGCTCCAAAGAGATCTCAGCGCTCACCGACTTCTCTGGTTACCTAACCAAACTCCTGCAAAACCACAC
CACCTATGCCTGTGATGGGGACTATTTGAATCTACAGTGCCCTCGGCATTCTACGATAAGTGTCCAATCGGCATTTTATGGGCAAGATTA
CCAAATGTGTAGTTCCCAGAAGCCTGCCTCCCAGAGGGAAGACAGCTTAACCTGTGTGGCAGCCACCACCTTCCAGGGAGAGTGGTGAAT
ATCAGTAGTTTGCAGTGTTTAAGGGCTTTTGAAAACTGCAGTGAAGATCTGCAGGAAAGGTTCCACAGTGAGACACTCACAGAAGGAGAC
CTGGTGGATCTCATGAAAAAGTTTGTGGAGGACACAAAAAATGAGGTGCATGAGAGGGAAGGCTGGCCCAACTCACCTTATGGGGTGTCC
AAGTTGGGGGTCACGGTCTTATCGAGGATCCTGGCCAGGCGTCTGGATGAGAAGAGGAAAGCTGACAGGATTCTGGTGAATGCGTGCTGC
CCAGGACCAGTGAAGACAGACATGGATGGGAAAGACAGCATCAGGACTGTGGAGGAGGGGGCTGAGACCCCTGTCTACTTGGCCCTCTTG
CCTCCAGATGCCACTGAGCCACAAGGCCAGTTGGTCCATGACAAAGTTGTGCAAAACTGGTAAACGTCTGCTTCGGAGCTTGCTGCTTAA

>27757_27757_3_EVA1C-CBR3_EVA1C_chr21_33825816_ENST00000401402_CBR3_chr21_37518374_ENST00000290354_length(amino acids)=153AA_BP=8
MCGSHHLPGRVVNISSLQCLRAFENCSEDLQERFHSETLTEGDLVDLMKKFVEDTKNEVHEREGWPNSPYGVSKLGVTVLSRILARRLDE

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

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Fusion Gene PPI Analysis for EVA1C-CBR3


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 EVA1C-CBR3


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 EVA1C-CBR3


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