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:EED-HIKESHI (FusionGDB2 ID:HG8726TG51501)

Fusion Gene Summary for EED-HIKESHI

check button Fusion gene summary
Fusion gene informationFusion gene name: EED-HIKESHI
Fusion gene ID: hg8726tg51501
HgeneTgene
Gene symbol

EED

HIKESHI

Gene ID

8726

51501

Gene nameembryonic ectoderm developmentheat shock protein nuclear import factor hikeshi
SynonymsCOGIS|HEED|WAIT1C11orf73|HLD13|HSPC138|HSPC179|L7RN6|OPI10
Cytomap('EED','EED')('C11orf73','HIKESHI')

11q14.2

11q14.2

Type of geneprotein-codingprotein-coding
Descriptionpolycomb protein EEDWD protein associating with integrin cytoplasmic tails 1embryonic ectoderm development proteinprotein HikeshiHikeshi, heat shock protein nuclear import factorlethal, Chr 7, Rinchik 6
Modification date2020031320200313
UniProtAcc

O75530

.
Ensembl transtripts involved in fusion geneENST00000263360, ENST00000327320, 
ENST00000351625, ENST00000528180, 
ENST00000527888, 
Fusion gene scores* DoF score5 X 5 X 3=754 X 4 X 4=64
# samples 54
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EED [Title/Abstract] AND HIKESHI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEED(85961490)-C11orf73(86017286), # samples:1
EED(85961491)-HIKESHI(86017288), # samples:1
EED(85989033)-HIKESHI(86048421), # samples:1
Anticipated loss of major functional domain due to fusion event.EED-C11orf73 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.
EED-C11orf73 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.
EED-C11orf73 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.
EED-C11orf73 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
TgeneHIKESHI

GO:0006606

protein import into nucleus

22541429

TgeneHIKESHI

GO:0015031

protein transport

22541429

TgeneHIKESHI

GO:0034605

cellular response to heat

22541429


check buttonFusion gene breakpoints across EED (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 HIKESHI (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
ChimerDB4HNSCTCGA-CV-6961-01AEEDchr11

85961491

+HIKESHIchr11

86017288

+
ChimerDB4HNSCTCGA-CV-6961EEDchr11

85961490

+C11orf73chr11

86017286

+
ChimerDB4UCECTCGA-B5-A1MS-01BEEDchr11

85989033

+HIKESHIchr11

86048421

+


Top

Fusion Gene ORF analysis for EED-HIKESHI

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-3UTRENST00000263360ENST00000530208EEDchr11

85961490

+C11orf73chr11

86017286

+
5CDS-3UTRENST00000327320ENST00000530208EEDchr11

85961490

+C11orf73chr11

86017286

+
5CDS-3UTRENST00000351625ENST00000530208EEDchr11

85961490

+C11orf73chr11

86017286

+
5CDS-3UTRENST00000528180ENST00000530208EEDchr11

85961490

+C11orf73chr11

86017286

+
In-frameENST00000263360ENST00000278483EEDchr11

85961490

+C11orf73chr11

86017286

+
In-frameENST00000263360ENST00000533986EEDchr11

85961490

+C11orf73chr11

86017286

+
In-frameENST00000327320ENST00000278483EEDchr11

85961490

+C11orf73chr11

86017286

+
In-frameENST00000327320ENST00000533986EEDchr11

85961490

+C11orf73chr11

86017286

+
In-frameENST00000351625ENST00000278483EEDchr11

85961490

+C11orf73chr11

86017286

+
In-frameENST00000351625ENST00000533986EEDchr11

85961490

+C11orf73chr11

86017286

+
In-frameENST00000528180ENST00000278483EEDchr11

85961490

+C11orf73chr11

86017286

+
In-frameENST00000528180ENST00000533986EEDchr11

85961490

+C11orf73chr11

86017286

+
intron-3CDSENST00000527888ENST00000278483EEDchr11

85961490

+C11orf73chr11

86017286

+
intron-3CDSENST00000527888ENST00000533986EEDchr11

85961490

+C11orf73chr11

86017286

+
intron-3UTRENST00000527888ENST00000530208EEDchr11

85961490

+C11orf73chr11

86017286

+

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

Top

Fusion Genomic Features for EED-HIKESHI


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)
EEDchr1185961490+C11orf73chr1186017286+5.91E-050.9999409
EEDchr1185961490+C11orf73chr1186017286+5.91E-050.9999409

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%

Top

Fusion Protein Features for EED-HIKESHI


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/:85961490/:86017286)
- 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
EED

O75530

.
FUNCTION: Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 'Lys-27', whereas H3 'Lys-27' recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A. {ECO:0000269|PubMed:10581039, ECO:0000269|PubMed:14532106, ECO:0000269|PubMed:15225548, ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:15385962, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:18285464, ECO:0000269|PubMed:20974918, ECO:0000269|PubMed:28229514, ECO:0000269|PubMed:9584199}.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
TgeneC11orf73chr11:85961490chr11:86017286ENST0000027848305124_13410198.0RegionFlexible linker region involved in nuclear import of HSP70 proteins
TgeneC11orf73chr11:85961490chr11:86017286ENST000002784830518_5510198.0RegionRequired for F-X-F-G repeats-nucleoporins recognition and nuclear import

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEEDchr11:85961490chr11:86017286ENST00000263360+212142_18589442.0RepeatNote=WD 2
HgeneEEDchr11:85961490chr11:86017286ENST00000263360+212188_22889442.0RepeatNote=WD 3
HgeneEEDchr11:85961490chr11:86017286ENST00000263360+212234_27589442.0RepeatNote=WD 4
HgeneEEDchr11:85961490chr11:86017286ENST00000263360+212304_34189442.0RepeatNote=WD 5
HgeneEEDchr11:85961490chr11:86017286ENST00000263360+212359_39989442.0RepeatNote=WD 6
HgeneEEDchr11:85961490chr11:86017286ENST00000263360+212408_44189442.0RepeatNote=WD 7
HgeneEEDchr11:85961490chr11:86017286ENST00000263360+21291_13489442.0RepeatNote=WD 1
HgeneEEDchr11:85961490chr11:86017286ENST00000327320+211142_18589401.0RepeatNote=WD 2
HgeneEEDchr11:85961490chr11:86017286ENST00000327320+211188_22889401.0RepeatNote=WD 3
HgeneEEDchr11:85961490chr11:86017286ENST00000327320+211234_27589401.0RepeatNote=WD 4
HgeneEEDchr11:85961490chr11:86017286ENST00000327320+211304_34189401.0RepeatNote=WD 5
HgeneEEDchr11:85961490chr11:86017286ENST00000327320+211359_39989401.0RepeatNote=WD 6
HgeneEEDchr11:85961490chr11:86017286ENST00000327320+211408_44189401.0RepeatNote=WD 7
HgeneEEDchr11:85961490chr11:86017286ENST00000327320+21191_13489401.0RepeatNote=WD 1
HgeneEEDchr11:85961490chr11:86017286ENST00000351625+213142_18589467.0RepeatNote=WD 2
HgeneEEDchr11:85961490chr11:86017286ENST00000351625+213188_22889467.0RepeatNote=WD 3
HgeneEEDchr11:85961490chr11:86017286ENST00000351625+213234_27589467.0RepeatNote=WD 4
HgeneEEDchr11:85961490chr11:86017286ENST00000351625+213304_34189467.0RepeatNote=WD 5
HgeneEEDchr11:85961490chr11:86017286ENST00000351625+213359_39989467.0RepeatNote=WD 6
HgeneEEDchr11:85961490chr11:86017286ENST00000351625+213408_44189467.0RepeatNote=WD 7
HgeneEEDchr11:85961490chr11:86017286ENST00000351625+21391_13489467.0RepeatNote=WD 1


Top

Fusion Gene Sequence for EED-HIKESHI


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.

Top

Fusion Gene PPI Analysis for EED-HIKESHI


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
HgeneEEDchr11:85961490chr11:86017286ENST00000263360+21281_44189.0442.0EZH2
HgeneEEDchr11:85961490chr11:86017286ENST00000327320+21181_44189.0401.0EZH2
HgeneEEDchr11:85961490chr11:86017286ENST00000351625+21381_44189.0467.0EZH2


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for EED-HIKESHI


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 EED-HIKESHI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEEDC4479654COHEN-GIBSON SYNDROME5GENOMICS_ENGLAND;UNIPROT
HgeneEEDC0027809Neurilemmoma1CTD_human
HgeneEEDC0206727Nerve Sheath Tumors1CTD_human
HgeneEEDC0265210Weaver syndrome1ORPHANET
HgeneEEDC0751374Schwannomatosis, Plexiform1CTD_human
HgeneEEDC0751689Peripheral Nerve Sheath Neoplasm1CTD_human
HgeneEEDC0751691Perineurioma1CTD_human
TgeneC4225170LEUKODYSTROPHY, HYPOMYELINATING, 132CTD_human;ORPHANET;UNIPROT
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human