Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BOP1-EEF1D (FusionGDB2 ID:HG23246TG1936)

Fusion Gene Summary for BOP1-EEF1D

check button Fusion gene summary
Fusion gene informationFusion gene name: BOP1-EEF1D
Fusion gene ID: hg23246tg1936
HgeneTgene
Gene symbol

BOP1

EEF1D

Gene ID

23246

1936

Gene nameBOP1 ribosomal biogenesis factoreukaryotic translation elongation factor 1 delta
Synonyms-EF-1D|EF1D|FP1047
Cytomap('BOP1')('EEF1D')

8q24.3

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionribosome biogenesis protein BOP1block of proliferation 1elongation factor 1-deltaEF-1-deltaantigen NY-CO-4eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000307404, ENST00000529231, 
ENST00000525016, 
Fusion gene scores* DoF score9 X 7 X 8=50436 X 16 X 12=6912
# samples 1238
** MAII scorelog2(12/504*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(38/6912*10)=-4.18503189383252
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BOP1 [Title/Abstract] AND EEF1D [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBOP1(145500212)-EEF1D(144663498), # samples:1
Anticipated loss of major functional domain due to fusion event.BOP1-EEF1D 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.
BOP1-EEF1D 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.
BOP1-EEF1D 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.
BOP1-EEF1D 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.
BOP1-EEF1D seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BOP1-EEF1D 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
TgeneEEF1D

GO:0071479

cellular response to ionizing radiation

8168075


check buttonFusion gene breakpoints across BOP1 (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 EEF1D (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
ChimerDB4BRCATCGA-AN-A0G0-01ABOP1chr8

145500212

-EEF1Dchr8

144663498

-


Top

Fusion Gene ORF analysis for BOP1-EEF1D

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-intronENST00000307404ENST00000317198BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000395119BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000423316BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000442189BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000524624BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000526838BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000528610BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000529272BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000531621BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000531770BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000532400BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000307404ENST00000532741BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000317198BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000395119BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000423316BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000442189BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000524624BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000526838BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000528610BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000529272BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000531621BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000531770BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000532400BOP1chr8

145500212

-EEF1Dchr8

144663498

-
5CDS-intronENST00000529231ENST00000532741BOP1chr8

145500212

-EEF1Dchr8

144663498

-
Frame-shiftENST00000529231ENST00000419152BOP1chr8

145500212

-EEF1Dchr8

144663498

-
In-frameENST00000307404ENST00000419152BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-3CDSENST00000525016ENST00000419152BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000317198BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000395119BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000423316BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000442189BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000524624BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000526838BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000528610BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000529272BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000531621BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000531770BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000532400BOP1chr8

145500212

-EEF1Dchr8

144663498

-
intron-intronENST00000525016ENST00000532741BOP1chr8

145500212

-EEF1Dchr8

144663498

-

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)
ENST00000307404BOP1chr8145500212-ENST00000419152EEF1Dchr8144663498-1172420301076348

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
ENST00000307404ENST00000419152BOP1chr8145500212-EEF1Dchr8144663498-0.0028705720.9971295

Top

Fusion Genomic Features for BOP1-EEF1D


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.
genomic feature

Top

Fusion Protein Features for BOP1-EEF1D


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/chr8:145500212/chr8:144663498)
- 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
TgeneEEF1Dchr8:145500212chr8:144663498ENST0000031719828173_28163282.0RegionNote=Catalytic (GEF)
TgeneEEF1Dchr8:145500212chr8:144663498ENST000003171982880_11563282.0RegionNote=Leucine-zipper
TgeneEEF1Dchr8:145500212chr8:144663498ENST0000039511928173_28163282.0RegionNote=Catalytic (GEF)
TgeneEEF1Dchr8:145500212chr8:144663498ENST000003951192880_11563282.0RegionNote=Leucine-zipper
TgeneEEF1Dchr8:145500212chr8:144663498ENST0000041915239173_28163282.0RegionNote=Catalytic (GEF)
TgeneEEF1Dchr8:145500212chr8:144663498ENST000004191523980_11563282.0RegionNote=Leucine-zipper
TgeneEEF1Dchr8:145500212chr8:144663498ENST0000052462428173_28139258.0RegionNote=Catalytic (GEF)
TgeneEEF1Dchr8:145500212chr8:144663498ENST000005246242880_11539258.0RegionNote=Leucine-zipper
TgeneEEF1Dchr8:145500212chr8:144663498ENST0000052683828173_28163263.0RegionNote=Catalytic (GEF)
TgeneEEF1Dchr8:145500212chr8:144663498ENST000005268382880_11563263.0RegionNote=Leucine-zipper
TgeneEEF1Dchr8:145500212chr8:144663498ENST0000052861017173_28139258.0RegionNote=Catalytic (GEF)
TgeneEEF1Dchr8:145500212chr8:144663498ENST000005286101780_11539258.0RegionNote=Leucine-zipper
TgeneEEF1Dchr8:145500212chr8:144663498ENST0000052927228173_28163282.0RegionNote=Catalytic (GEF)
TgeneEEF1Dchr8:145500212chr8:144663498ENST000005292722880_11563282.0RegionNote=Leucine-zipper

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBOP1chr8:145500212chr8:144663498ENST00000307404-316265_427130747.0RegionSufficient for nucleolar localization
HgeneBOP1chr8:145500212chr8:144663498ENST00000307404-316411_450130747.0RepeatNote=WD 1
HgeneBOP1chr8:145500212chr8:144663498ENST00000307404-316452_492130747.0RepeatNote=WD 2
HgeneBOP1chr8:145500212chr8:144663498ENST00000307404-316532_576130747.0RepeatNote=WD 3
HgeneBOP1chr8:145500212chr8:144663498ENST00000307404-316577_615130747.0RepeatNote=WD 4
HgeneBOP1chr8:145500212chr8:144663498ENST00000307404-316618_657130747.0RepeatNote=WD 5
HgeneBOP1chr8:145500212chr8:144663498ENST00000307404-316661_700130747.0RepeatNote=WD 6
HgeneBOP1chr8:145500212chr8:144663498ENST00000307404-316716_746130747.0RepeatNote=WD 7
TgeneEEF1Dchr8:145500212chr8:144663498ENST00000423316410173_281429648.0RegionNote=Catalytic (GEF)
TgeneEEF1Dchr8:145500212chr8:144663498ENST0000042331641080_115429648.0RegionNote=Leucine-zipper
TgeneEEF1Dchr8:145500212chr8:144663498ENST00000442189410173_281429648.0RegionNote=Catalytic (GEF)
TgeneEEF1Dchr8:145500212chr8:144663498ENST0000044218941080_115429648.0RegionNote=Leucine-zipper


Top

Fusion Gene Sequence for BOP1-EEF1D


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.
>10032_10032_1_BOP1-EEF1D_BOP1_chr8_145500212_ENST00000307404_EEF1D_chr8_144663498_ENST00000419152_length(transcript)=1172nt_BP=420nt
GTGCGGGTGGCGGCCGGCGCGCGGTGGGGCATGGCGGGTTCGCGGGGTGCGGGGCGCACGGCGGCGCCGAGCGTGCGGCCGGAGAAGCGG
CGGTCTGAGCCCGAACTGGAGCCTGAGCCCGAGCCGGAGCCCCCCCTCCTCTGCACCTCTCCTCTCAGCCACAGCACCGGCAGCGATTCT
GGCGTCTCCGACAGCGAGGAGAGTGTGTTCTCAGGCCTGGAAGATTCCGGCAGTGACAGCAGTGAGGATGATGACGAAGGCGACGAGGAG
GGAGAGGACGGAGCCCTTGATGACGAGGGCCACAGTGGGATTAAAAAGACCACTGAGGAGCAGGTGCAGGCCAGCACTCCTTGCCCGAGG
ACAGAGATGGCGAGCGCCCGGATTGGGGATGAGTATGCGGAGGACAGCTCTGATGAGGAGAGCTCAGGCCCCGGGGCCTCCAGCGGCACC
AGCGGAGACCACGGTGAGCTCGTCGTCCGGATTGCCAGTCTGGAAGTGGAGAACCAGAGTCTGCGTGGCGTGGTACAGGAGCTGCAGCAG
GCCATCTCCAAGCTGGAGGCCCGGCTGAACGTGCTGGAGAAGAGCTCGCCTGGCCACCGGGCCACGGCCCCACAGACCCAGCACGTATCT
CCCATGCGCCAAGTGGAGCCCCCAGCCAAGAAGCCAGCCACACCAGCAGAGGATGACGAGGATGATGACATTGACCTGTTTGGCAGTGAC
AATGAGGAGGAGGACAAGGAGGCGGCACAGCTGCGGGAGGAGCGGCTACGGCAGTACGCGGAGAAGAAGGCCAAGAAGCCTGCACTGGTG
GCCAAGTCCTCCATCCTGCTGGATGTCAAGCCTTGGGATGATGAGACGGACATGGCCCAGCTGGAGGCCTGTGTGCGCTCTATCCAGCTG
GACGGGCTGGTCTGGGGGGCTTCCAAGCTGGTGCCCGTGGGCTACGGTATCCGGAAGCTACAGATTCAGTGTGTGGTGGAGGACGACAAG
GTGGGGACAGACTTGCTGGAGGAGGAGATCACCAAGTTTGAGGAGCACGTGCAGAGTGTCGATATCGCAGCTTTCAACAAGATCTGAAGC
CTGAGTGTGTGTACGTGCGCGCGTGCGTGAGGCCCTGCCACGATTAAAGACTGAGACCGGCCCTCTGGCTCCGTCCTGGTCATTTCCTGC

>10032_10032_1_BOP1-EEF1D_BOP1_chr8_145500212_ENST00000307404_EEF1D_chr8_144663498_ENST00000419152_length(amino acids)=348AA_BP=0
MAGSRGAGRTAAPSVRPEKRRSEPELEPEPEPEPPLLCTSPLSHSTGSDSGVSDSEESVFSGLEDSGSDSSEDDDEGDEEGEDGALDDEG
HSGIKKTTEEQVQASTPCPRTEMASARIGDEYAEDSSDEESSGPGASSGTSGDHGELVVRIASLEVENQSLRGVVQELQQAISKLEARLN
VLEKSSPGHRATAPQTQHVSPMRQVEPPAKKPATPAEDDEDDDIDLFGSDNEEEDKEAAQLREERLRQYAEKKAKKPALVAKSSILLDVK

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

Top

Fusion Gene PPI Analysis for BOP1-EEF1D


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


Top

Related Drugs for BOP1-EEF1D


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for BOP1-EEF1D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBOP1C0024623Malignant neoplasm of stomach1CTD_human
HgeneBOP1C0038356Stomach Neoplasms1CTD_human
HgeneBOP1C0235874Disease Exacerbation1CTD_human
HgeneBOP1C1708349Hereditary Diffuse Gastric Cancer1CTD_human