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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:EMP1-TTC28 (FusionGDB2 ID:26458)

Fusion Gene Summary for EMP1-TTC28

check button Fusion gene summary
Fusion gene informationFusion gene name: EMP1-TTC28
Fusion gene ID: 26458
HgeneTgene
Gene symbol

EMP1

TTC28

Gene ID

2012

23331

Gene nameepithelial membrane protein 1tetratricopeptide repeat domain 28
SynonymsCL-20|EMP-1|TMPTPRBK
Cytomap

12p13.1

22q12.1

Type of geneprotein-codingprotein-coding
Descriptionepithelial membrane protein 1tumor-associated membrane proteintetratricopeptide repeat protein 28TPR repeat protein 28TPR repeat-containing big gene cloned at KeioTPR-containing big gene cloned at Keio
Modification date2020031320200313
UniProtAcc

P54849

.
Ensembl transtripts involved in fusion geneENST00000256951, ENST00000537612, 
ENST00000431267, ENST00000544053, 
ENST00000542289, ENST00000396301, 
ENST00000397906, ENST00000490475, 
Fusion gene scores* DoF score6 X 6 X 3=10838 X 29 X 5=5510
# samples 641
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(41/5510*10)=-3.74835650395307
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EMP1 [Title/Abstract] AND TTC28 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEMP1(13368917)-TTC28(28378528), # 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
HgeneEMP1

GO:0008219

cell death

12107182

HgeneEMP1

GO:0032060

bleb assembly

12107182


check buttonFusion gene breakpoints across EMP1 (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 TTC28 (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
ChiTaRS5.0N/ABG315010EMP1chr12

13368917

+TTC28chr22

28378528

-


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Fusion Gene ORF analysis for EMP1-TTC28

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
3UTR-3CDSENST00000256951ENST00000397906EMP1chr12

13368917

+TTC28chr22

28378528

-
3UTR-intronENST00000256951ENST00000490475EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-3CDSENST00000537612ENST00000397906EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-intronENST00000537612ENST00000490475EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-3CDSENST00000431267ENST00000397906EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-intronENST00000431267ENST00000490475EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-3CDSENST00000544053ENST00000397906EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-intronENST00000544053ENST00000490475EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-3CDSENST00000542289ENST00000397906EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-intronENST00000542289ENST00000490475EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-3CDSENST00000396301ENST00000397906EMP1chr12

13368917

+TTC28chr22

28378528

-
intron-intronENST00000396301ENST00000490475EMP1chr12

13368917

+TTC28chr22

28378528

-

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 EMP1-TTC28


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 EMP1-TTC28


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EMP1

P54849

.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 EMP1-TTC28


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 EMP1-TTC28


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 EMP1-TTC28


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 EMP1-TTC28


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEMP1C0000786Spontaneous abortion1CTD_human
HgeneEMP1C0000822Abortion, Tubal1CTD_human
HgeneEMP1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneEMP1C0033578Prostatic Neoplasms1CTD_human
HgeneEMP1C0041696Unipolar Depression1PSYGENET
HgeneEMP1C0376358Malignant neoplasm of prostate1CTD_human
HgeneEMP1C1269683Major Depressive Disorder1PSYGENET
HgeneEMP1C3830362Early Pregnancy Loss1CTD_human
HgeneEMP1C4552766Miscarriage1CTD_human
TgeneTTC28C2931456Prostate cancer, familial1CTD_human
TgeneTTC28C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human