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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:EMID1-EEF1D (FusionGDB2 ID:26405)

Fusion Gene Summary for EMID1-EEF1D

check button Fusion gene summary
Fusion gene informationFusion gene name: EMID1-EEF1D
Fusion gene ID: 26405
HgeneTgene
Gene symbol

EMID1

EEF1D

Gene ID

129080

1936

Gene nameEMI domain containing 1eukaryotic translation elongation factor 1 delta
SynonymsEMI5|EMU1EF-1D|EF1D|FP1047
Cytomap

22q12.2

8q24.3

Type of geneprotein-codingprotein-coding
DescriptionEMI domain-containing protein 1emilin and multimerin domain-containing protein 1elongation factor 1-deltaEF-1-deltaantigen NY-CO-4eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
Modification date2020031320200313
UniProtAcc

Q96A84

Q658K8

Ensembl transtripts involved in fusion geneENST00000334018, ENST00000404755, 
ENST00000404820, ENST00000484039, 
ENST00000317198, ENST00000395119, 
ENST00000419152, ENST00000423316, 
ENST00000442189, ENST00000524624, 
ENST00000526838, ENST00000528610, 
ENST00000529272, ENST00000531621, 
ENST00000532400, ENST00000532741, 
ENST00000531770, 
Fusion gene scores* DoF score5 X 5 X 4=10036 X 16 X 12=6912
# samples 638
** MAII scorelog2(6/100*10)=-0.736965594166206
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: EMID1 [Title/Abstract] AND EEF1D [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEMID1(29602128)-EEF1D(144669022), # 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
TgeneEEF1D

GO:0071479

cellular response to ionizing radiation

8168075


check buttonFusion gene breakpoints across EMID1 (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 EEF1D (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-CD-8527-01AEMID1chr22

29602128

+EEF1Dchr8

144669022

-


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Fusion Gene ORF analysis for EMID1-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-5UTRENST00000334018ENST00000317198EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000395119EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000419152EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000423316EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000442189EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000524624EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000526838EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000528610EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000529272EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000531621EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000532400EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000334018ENST00000532741EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000317198EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000395119EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000419152EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000423316EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000442189EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000524624EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000526838EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000528610EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000529272EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000531621EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000532400EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404755ENST00000532741EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000317198EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000395119EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000419152EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000423316EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000442189EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000524624EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000526838EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000528610EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000529272EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000531621EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000532400EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-5UTRENST00000404820ENST00000532741EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-intronENST00000334018ENST00000531770EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-intronENST00000404755ENST00000531770EMID1chr22

29602128

+EEF1Dchr8

144669022

-
5CDS-intronENST00000404820ENST00000531770EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000317198EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000395119EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000419152EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000423316EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000442189EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000524624EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000526838EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000528610EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000529272EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000531621EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000532400EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-5UTRENST00000484039ENST00000532741EMID1chr22

29602128

+EEF1Dchr8

144669022

-
intron-intronENST00000484039ENST00000531770EMID1chr22

29602128

+EEF1Dchr8

144669022

-

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 EMID1-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.

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.

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Fusion Protein Features for EMID1-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/:29602128/:144669022)
- 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
EMID1

Q96A84

EEF1D

Q658K8


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 EMID1-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.

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Fusion Gene PPI Analysis for EMID1-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


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Related Drugs for EMID1-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

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Related Diseases for EMID1-EEF1D


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