UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:ECE1-HP1BP3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ECE1-HP1BP3
FusionPDB ID: 24854
FusionGDB2.0 ID: 24854
HgeneTgene
Gene symbol

ECE1

HP1BP3

Gene ID

1889

50809

Gene nameendothelin converting enzyme 1heterochromatin protein 1 binding protein 3
SynonymsECEHP1-BP74|HP1BP74
Cytomap

1p36.12

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionendothelin-converting enzyme 1ECE-1heterochromatin protein 1-binding protein 3
Modification date2020031320200313
UniProtAcc

P42892

Q5SSJ5

Ensembl transtripts involved in fusion geneENST idsENST00000264205, ENST00000357071, 
ENST00000374893, ENST00000415912, 
ENST00000436918, ENST00000528294, 
ENST00000375000, ENST00000375003, 
ENST00000487117, ENST00000312239, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 15 X 9=216022 X 14 X 10=3080
# samples 1824
** MAII scorelog2(18/2160*10)=-3.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(24/3080*10)=-3.68182403997374
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ECE1 [Title/Abstract] AND HP1BP3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ECE1(21571481)-HP1BP3(21097566), # samples:1
Anticipated loss of major functional domain due to fusion event.ECE1-HP1BP3 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.
ECE1-HP1BP3 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.
ECE1-HP1BP3 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.
ECE1-HP1BP3 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
HgeneECE1

GO:0010814

substance P catabolic process

18039931

HgeneECE1

GO:0010815

bradykinin catabolic process

18039931

HgeneECE1

GO:0010816

calcitonin catabolic process

18039931

HgeneECE1

GO:0016485

protein processing

7805846

HgeneECE1

GO:0016486

peptide hormone processing

7864876

HgeneECE1

GO:0034959

endothelin maturation

7805846

HgeneECE1

GO:0042447

hormone catabolic process

7864876

TgeneHP1BP3

GO:0071456

cellular response to hypoxia

25100860


check buttonFusion gene breakpoints across ECE1 (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 HP1BP3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

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
ChimerDB4Non-CancerTCGA-EJ-7123-11AECE1chr1

21571481

-HP1BP3chr1

21097566

-


Top

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)
ENST00000415912ECE1chr121571481-ENST00000312239HP1BP3chr121097566-464413561262507793
ENST00000357071ECE1chr121571481-ENST00000312239HP1BP3chr121097566-46451357462508820
ENST00000374893ECE1chr121571481-ENST00000312239HP1BP3chr121097566-46411353632504813
ENST00000436918ECE1chr121571481-ENST00000312239HP1BP3chr121097566-46161328382479813
ENST00000264205ECE1chr121571481-ENST00000312239HP1BP3chr121097566-46161328592479806

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
ENST00000415912ENST00000312239ECE1chr121571481-HP1BP3chr121097566-0.0016302240.99836975
ENST00000357071ENST00000312239ECE1chr121571481-HP1BP3chr121097566-0.0007502230.99924976
ENST00000374893ENST00000312239ECE1chr121571481-HP1BP3chr121097566-0.0005440630.999456
ENST00000436918ENST00000312239ECE1chr121571481-HP1BP3chr121097566-0.0005508710.9994491
ENST00000264205ENST00000312239ECE1chr121571481-HP1BP3chr121097566-0.0008277740.9991722

Top

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

>24854_24854_1_ECE1-HP1BP3_ECE1_chr1_21571481_ENST00000264205_HP1BP3_chr1_21097566_ENST00000312239_length(amino acids)=806AA_BP=0
MEALRESVLHLALQMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAALGIQYQT
RSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAERKAQVYYR
ACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRDYYLNKTE
NEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIFYPVEINE
SEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKACFQKSGASVVAIRKYIIHKYPSLELE
RRGYLLKQALKRELNRGVIKQVKGKGASGSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEPKEASYSLIRKYVSQ
YYPKLRVDIRPQLLKNALQRAVERGQLEQITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTALKKYVLENHPGTNS
NYQMHLLKKTLQKCEKNGWMEQISGKGFSGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEEPPPKRRLQKKTPAKSPG

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

>24854_24854_2_ECE1-HP1BP3_ECE1_chr1_21571481_ENST00000357071_HP1BP3_chr1_21097566_ENST00000312239_length(amino acids)=820AA_BP=1
MFLSWIRAESVGTRPPLRQEAALMPLQGLGLQRNPFLQGKRGPGLTSSPPLLPPSLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAG
LVACLAALGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTA
SVSEAERKAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSG
LGLPSRDYYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWL
PFLNTIFYPVEINESEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKACFQKSGASVVAI
RKYIIHKYPSLELERRGYLLKQALKRELNRGVIKQVKGKGASGSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEP
KEASYSLIRKYVSQYYPKLRVDIRPQLLKNALQRAVERGQLEQITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTA
LKKYVLENHPGTNSNYQMHLLKKTLQKCEKNGWMEQISGKGFSGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEEPPP
KRRLQKKTPAKSPGKAASVKQRGSKPAPKVSAAQRGKARPLPKKAPPKAKTPAKKTRPSSTVIKKPSGGSSKKPATSARKEVKLPGKGKS

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

>24854_24854_3_ECE1-HP1BP3_ECE1_chr1_21571481_ENST00000374893_HP1BP3_chr1_21097566_ENST00000312239_length(amino acids)=813AA_BP=1
MGHSMRGVWPPPVSALLSALGMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAA
LGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAER
KAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRD
YYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIF
YPVEINESEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKACFQKSGASVVAIRKYIIHK
YPSLELERRGYLLKQALKRELNRGVIKQVKGKGASGSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEPKEASYSL
IRKYVSQYYPKLRVDIRPQLLKNALQRAVERGQLEQITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTALKKYVLE
NHPGTNSNYQMHLLKKTLQKCEKNGWMEQISGKGFSGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEEPPPKRRLQKK
TPAKSPGKAASVKQRGSKPAPKVSAAQRGKARPLPKKAPPKAKTPAKKTRPSSTVIKKPSGGSSKKPATSARKEVKLPGKGKSTMKKSFR

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

>24854_24854_4_ECE1-HP1BP3_ECE1_chr1_21571481_ENST00000415912_HP1BP3_chr1_21097566_ENST00000312239_length(amino acids)=793AA_BP=1
MMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAALGIQYQTRSPSVCLSEACVS
VTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAERKAQVYYRACMNETRIEELRA
KPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRDYYLNKTENEKVLTGYLNYMV
QLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIFYPVEINESEPIVVYDKEYLE
QISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKACFQKSGASVVAIRKYIIHKYPSLELERRGYLLKQALKRE
LNRGVIKQVKGKGASGSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEPKEASYSLIRKYVSQYYPKLRVDIRPQL
LKNALQRAVERGQLEQITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTALKKYVLENHPGTNSNYQMHLLKKTLQK
CEKNGWMEQISGKGFSGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEEPPPKRRLQKKTPAKSPGKAASVKQRGSKPA

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

>24854_24854_5_ECE1-HP1BP3_ECE1_chr1_21571481_ENST00000436918_HP1BP3_chr1_21097566_ENST00000312239_length(amino acids)=813AA_BP=1
MGHSMRGVWPPPVSALLSALGMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAA
LGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAER
KAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRD
YYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIF
YPVEINESEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKACFQKSGASVVAIRKYIIHK
YPSLELERRGYLLKQALKRELNRGVIKQVKGKGASGSFVVVQKSRKTPQKSRNRKNRSSAVDPEPQVKLEDVLPLAFTRLCEPKEASYSL
IRKYVSQYYPKLRVDIRPQLLKNALQRAVERGQLEQITGKGASGTFQLKKSGEKPLLGGSLMEYAILSAIAAMNEPKTCSTTALKKYVLE
NHPGTNSNYQMHLLKKTLQKCEKNGWMEQISGKGFSGTFQLCFPYYPSPGVLFPKKEPDDSRDEDEDEDESSEEDSEDEEPPPKRRLQKK
TPAKSPGKAASVKQRGSKPAPKVSAAQRGKARPLPKKAPPKAKTPAKKTRPSSTVIKKPSGGSSKKPATSARKEVKLPGKGKSTMKKSFR

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

Top

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/chr1:21571481/chr1:21097566)
- 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
ECE1

P42892

HP1BP3

Q5SSJ5

FUNCTION: Converts big endothelin-1 to endothelin-1. {ECO:0000269|PubMed:9396733}.FUNCTION: Component of heterochromatin that maintains heterochromatin integrity during G1/S progression and regulates the duration of G1 phase to critically influence cell proliferative capacity (PubMed:24830416). Mediates chromatin condensation during hypoxia, leading to increased tumor cell viability, radio-resistance, chemo-resistance and self-renewal(PubMed:25100860). {ECO:0000269|PubMed:24830416, ECO:0000269|PubMed:25100860}.

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
HgeneECE1chr1:21571481chr1:21097566ENST00000264205-9181_68423.0768.0Topological domainCytoplasmic
HgeneECE1chr1:21571481chr1:21097566ENST00000357071-8171_68414.0759.0Topological domainCytoplasmic
HgeneECE1chr1:21571481chr1:21097566ENST00000374893-10191_68426.0771.0Topological domainCytoplasmic
HgeneECE1chr1:21571481chr1:21097566ENST00000415912-10191_68410.0755.0Topological domainCytoplasmic
HgeneECE1chr1:21571481chr1:21097566ENST00000264205-91869_89423.0768.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneECE1chr1:21571481chr1:21097566ENST00000357071-81769_89414.0759.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneECE1chr1:21571481chr1:21097566ENST00000374893-101969_89426.0771.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneECE1chr1:21571481chr1:21097566ENST00000415912-101969_89410.0755.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneHP1BP3chr1:21571481chr1:21097566ENST00000312239413454_553170.0554.0Compositional biasNote=Lys-rich
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500005454_5530134.0Compositional biasNote=Lys-rich
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500309454_55318.0402.0Compositional biasNote=Lys-rich
TgeneHP1BP3chr1:21571481chr1:21097566ENST00000312239413255_330170.0554.0DomainH15 2
TgeneHP1BP3chr1:21571481chr1:21097566ENST00000312239413337_413170.0554.0DomainH15 3
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500005157_2320134.0DomainH15 1
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500005255_3300134.0DomainH15 2
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500005337_4130134.0DomainH15 3
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500309157_23218.0402.0DomainH15 1
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500309255_33018.0402.0DomainH15 2
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500309337_41318.0402.0DomainH15 3
TgeneHP1BP3chr1:21571481chr1:21097566ENST00000312239413255_259170.0554.0MotifPxVxL motif
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500005255_2590134.0MotifPxVxL motif
TgeneHP1BP3chr1:21571481chr1:21097566ENST0000037500309255_25918.0402.0MotifPxVxL motif

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneECE1chr1:21571481chr1:21097566ENST00000264205-91898_770423.0768.0DomainPeptidase M13
HgeneECE1chr1:21571481chr1:21097566ENST00000357071-81798_770414.0759.0DomainPeptidase M13
HgeneECE1chr1:21571481chr1:21097566ENST00000374893-101998_770426.0771.0DomainPeptidase M13
HgeneECE1chr1:21571481chr1:21097566ENST00000415912-101998_770410.0755.0DomainPeptidase M13
HgeneECE1chr1:21571481chr1:21097566ENST00000264205-91890_770423.0768.0Topological domainExtracellular
HgeneECE1chr1:21571481chr1:21097566ENST00000357071-81790_770414.0759.0Topological domainExtracellular
HgeneECE1chr1:21571481chr1:21097566ENST00000374893-101990_770426.0771.0Topological domainExtracellular
HgeneECE1chr1:21571481chr1:21097566ENST00000415912-101990_770410.0755.0Topological domainExtracellular
TgeneHP1BP3chr1:21571481chr1:21097566ENST00000312239413157_232170.0554.0DomainH15 1


Top

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
ECE1
HP1BP3


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


Top

Related Drugs to ECE1-HP1BP3


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

Top

Related Diseases to ECE1-HP1BP3


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