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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ECE2-HTR3D

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ECE2-HTR3D
FusionPDB ID: 24866
FusionGDB2.0 ID: 24866
HgeneTgene
Gene symbol

ECE2

HTR3D

Gene ID

110599583

200909

Gene nameEEF1AKMT4-ECE2 readthrough5-hydroxytryptamine receptor 3D
SynonymsECE-2|ECE25HT3D
Cytomap

3q27.1

3q27.1

Type of geneprotein-codingprotein-coding
DescriptionEEF1AKMT4-ECE2 readthrough transcript proteinEndothelin-converting enzyme 25-hydroxytryptamine receptor 3D5-hydroxytryptamine (serotonin) receptor 3 family member D5-hydroxytryptamine (serotonin) receptor 3D, ionotropic5-hydroxytryptamine receptor 3 subunit Dserotonin 5-HT-3D receptorserotonin receptor 3D
Modification date2020030320200313
UniProtAcc

P0DPD6

.
Ensembl transtripts involved in fusion geneENST idsENST00000324557, ENST00000402825, 
ENST00000357474, ENST00000359140, 
ENST00000404464, 		ENST00000382489, 
ENST00000334128, ENST00000428798, 
ENST00000453435, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 3 X 1=123 X 3 X 2=18
# samples 23
** MAII scorelog2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ECE2 [Title/Abstract] AND HTR3D [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ECE2(183967678)-HTR3D(183756196), # samples:1
Anticipated loss of major functional domain due to fusion event.ECE2-HTR3D seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ECE2-HTR3D seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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 ECE2 (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 HTR3D (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4LUSCTCGA-56-5898ECE2chr3

183967678

+HTR3Dchr3

183756196

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000324557ECE2chr3183967678+ENST00000334128HTR3Dchr3183756196+108124145686213
ENST00000324557ECE2chr3183967678+ENST00000428798HTR3Dchr3183756196+68724145686213
ENST00000324557ECE2chr3183967678+ENST00000453435HTR3Dchr3183756196+91224145686213
ENST00000402825ECE2chr3183967678+ENST00000334128HTR3Dchr3183756196+10361960641213
ENST00000402825ECE2chr3183967678+ENST00000428798HTR3Dchr3183756196+6421960641213
ENST00000402825ECE2chr3183967678+ENST00000453435HTR3Dchr3183756196+8671960641213

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
ENST00000324557ENST00000334128ECE2chr3183967678+HTR3Dchr3183756196+0.130063850.8699361
ENST00000324557ENST00000428798ECE2chr3183967678+HTR3Dchr3183756196+0.094036030.9059639
ENST00000324557ENST00000453435ECE2chr3183967678+HTR3Dchr3183756196+0.079986730.92001325
ENST00000402825ENST00000334128ECE2chr3183967678+HTR3Dchr3183756196+0.157798980.842201
ENST00000402825ENST00000428798ECE2chr3183967678+HTR3Dchr3183756196+0.125825720.8741743
ENST00000402825ENST00000453435ECE2chr3183967678+HTR3Dchr3183756196+0.1004140450.899586

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>24866_24866_1_ECE2-HTR3D_ECE2_chr3_183967678_ENST00000324557_HTR3D_chr3_183756196_ENST00000334128_length(amino acids)=213AA_BP=65
MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPEDRILVLGVYFALCLSLMVGSLLETIFITHLL
HVATTQPLPLPRWLHSLLLHCTGQGRCCPTAPQKGNKGPGLTPTHLPGVKEPEVSAGQMPGPGEAELTGGSEWTRAQREHEAQKQHSVEL

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

>24866_24866_2_ECE2-HTR3D_ECE2_chr3_183967678_ENST00000324557_HTR3D_chr3_183756196_ENST00000428798_length(amino acids)=213AA_BP=65
MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPEDRILVLGVYFALCLSLMVGSLLETIFITHLL
HVATTQPLPLPRWLHSLLLHCTGQGRCCPTAPQKGNKGPGLTPTHLPGVKEPEVSAGQMPGPGEAELTGGSEWTRAQREHEAQKQHSVEL

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

>24866_24866_3_ECE2-HTR3D_ECE2_chr3_183967678_ENST00000324557_HTR3D_chr3_183756196_ENST00000453435_length(amino acids)=213AA_BP=65
MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPEDRILVLGVYFALCLSLMVGSLLETIFITHLL
HVATTQPLPLPRWLHSLLLHCTGQGRCCPTAPQKGNKGPGLTPTHLPGVKEPEVSAGQMPGPGEAELTGGSEWTRAQREHEAQKQHSVEL

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

>24866_24866_4_ECE2-HTR3D_ECE2_chr3_183967678_ENST00000402825_HTR3D_chr3_183756196_ENST00000334128_length(amino acids)=213AA_BP=65
MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPEDRILVLGVYFALCLSLMVGSLLETIFITHLL
HVATTQPLPLPRWLHSLLLHCTGQGRCCPTAPQKGNKGPGLTPTHLPGVKEPEVSAGQMPGPGEAELTGGSEWTRAQREHEAQKQHSVEL

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

>24866_24866_5_ECE2-HTR3D_ECE2_chr3_183967678_ENST00000402825_HTR3D_chr3_183756196_ENST00000428798_length(amino acids)=213AA_BP=65
MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPEDRILVLGVYFALCLSLMVGSLLETIFITHLL
HVATTQPLPLPRWLHSLLLHCTGQGRCCPTAPQKGNKGPGLTPTHLPGVKEPEVSAGQMPGPGEAELTGGSEWTRAQREHEAQKQHSVEL

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

>24866_24866_6_ECE2-HTR3D_ECE2_chr3_183967678_ENST00000402825_HTR3D_chr3_183756196_ENST00000453435_length(amino acids)=213AA_BP=65
MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPEDRILVLGVYFALCLSLMVGSLLETIFITHLL
HVATTQPLPLPRWLHSLLLHCTGQGRCCPTAPQKGNKGPGLTPTHLPGVKEPEVSAGQMPGPGEAELTGGSEWTRAQREHEAQKQHSVEL

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

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Fusion Protein Functional Features


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/chr3:183967678/chr3:183756196)
- 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
ECE2

P0DPD6

.
FUNCTION: Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May play a role in amyloid-beta processing (By similarity). {ECO:0000250|UniProtKB:B2RQR8, ECO:0000269|PubMed:12560336}.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000038248908254_2640.0455.0Topological domainCytoplasmic
TgeneHTR3Dchr3:183967678chr3:183756196ENST000003824890825_2320.0455.0Topological domainExtracellular
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000038248908286_3060.0455.0Topological domainExtracellular
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000038248908328_4310.0455.0Topological domainCytoplasmic
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000038248908453_4540.0455.0Topological domainExtracellular
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000042879858254_264256.3333333333333405.0Topological domainCytoplasmic
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000042879858286_306256.3333333333333405.0Topological domainExtracellular
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000042879858328_431256.3333333333333405.0Topological domainCytoplasmic
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000042879858453_454256.3333333333333405.0Topological domainExtracellular
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000045343514254_26485.33333333333333234.0Topological domainCytoplasmic
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000045343514286_30685.33333333333333234.0Topological domainExtracellular
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000045343514328_43185.33333333333333234.0Topological domainCytoplasmic
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000045343514453_45485.33333333333333234.0Topological domainExtracellular
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000038248908233_2530.0455.0TransmembraneHelical%3B Name%3D1
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000038248908265_2850.0455.0TransmembraneHelical%3B Name%3D2
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000038248908307_3270.0455.0TransmembraneHelical%3B Name%3D3
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000038248908432_4520.0455.0TransmembraneHelical%3B Name%3D4
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000042879858265_285256.3333333333333405.0TransmembraneHelical%3B Name%3D2
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000042879858307_327256.3333333333333405.0TransmembraneHelical%3B Name%3D3
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000042879858432_452256.3333333333333405.0TransmembraneHelical%3B Name%3D4
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000045343514233_25385.33333333333333234.0TransmembraneHelical%3B Name%3D1
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000045343514265_28585.33333333333333234.0TransmembraneHelical%3B Name%3D2
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000045343514307_32785.33333333333333234.0TransmembraneHelical%3B Name%3D3
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000045343514432_45285.33333333333333234.0TransmembraneHelical%3B Name%3D4

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneHTR3Dchr3:183967678chr3:183756196ENST000004287985825_232256.3333333333333405.0Topological domainExtracellular
TgeneHTR3Dchr3:183967678chr3:183756196ENST000004534351425_23285.33333333333333234.0Topological domainExtracellular
TgeneHTR3Dchr3:183967678chr3:183756196ENST0000042879858233_253256.3333333333333405.0TransmembraneHelical%3B Name%3D1


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ECE2
HTR3D


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ECE2-HTR3D


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ECE2-HTR3D


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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