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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:ACE2-GPR143

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ACE2-GPR143
FusionPDB ID: 1276
FusionGDB2.0 ID: 1276
HgeneTgene
Gene symbol

ACE2

GPR143

Gene ID

59272

4935

Gene nameangiotensin I converting enzyme 2G protein-coupled receptor 143
SynonymsACEHNYS6|OA1
Cytomap

Xp22.2

Xp22.2

Type of geneprotein-codingprotein-coding
Descriptionangiotensin-converting enzyme 2ACE-related carboxypeptidaseangiotensin I converting enzyme (peptidyl-dipeptidase A) 2angiotensin-converting enzyme homologmetalloprotease MPROT15peptidyl-dipeptidase AG-protein coupled receptor 143ocular albinism 1ocular albinism type 1 protein
Modification date2020032220200313
UniProtAcc

Q9BYF1

P51810

Ensembl transtripts involved in fusion geneENST idsENST00000252519, ENST00000427411, 
ENST00000471548, 		ENST00000487206, 
ENST00000467482, ENST00000380929, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score1 X 1 X 1=14 X 4 X 4=64
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ACE2 [Title/Abstract] AND GPR143 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ACE2(15596212)-GPR143(9693880), # samples:3
Anticipated loss of major functional domain due to fusion event.ACE2-GPR143 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.
ACE2-GPR143 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.
ACE2-GPR143 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.
ACE2-GPR143 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.
ACE2-GPR143 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ACE2-GPR143 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACE2-GPR143 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
HgeneACE2

GO:0046813

receptor-mediated virion attachment to host cell

18343844

TgeneGPR143

GO:0007186

G protein-coupled receptor signaling pathway

16524428

TgeneGPR143

GO:0032400

melanosome localization

19717472

TgeneGPR143

GO:0032402

melanosome transport

19717472

TgeneGPR143

GO:0035584

calcium-mediated signaling using intracellular calcium source

18828673

TgeneGPR143

GO:0048015

phosphatidylinositol-mediated signaling

16524428

TgeneGPR143

GO:0050848

regulation of calcium-mediated signaling

18828673


check buttonFusion gene breakpoints across ACE2 (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 GPR143 (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
ChimerDB4COADTCGA-AZ-6605-01AACE2chrX

15596212

-GPR143chrX

9693880

-


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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)
ENST00000252519ACE2chrX15596212-ENST00000380929GPR143chrX9693880-182714001031494463
ENST00000427411ACE2chrX15596212-ENST00000467482GPR143chrX9693880-200915142171608463

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
ENST00000252519ENST00000380929ACE2chrX15596212-GPR143chrX9693880-0.0003046180.9996954
ENST00000427411ENST00000467482ACE2chrX15596212-GPR143chrX9693880-0.0002283730.99977165

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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

>1276_1276_1_ACE2-GPR143_ACE2_chrX_15596212_ENST00000252519_GPR143_chrX_9693880_ENST00000380929_length(amino acids)=463AA_BP=432
MSSSSWLLLSLVAVTAAQSTIEEQAKTFLDKFNHEAEDLFYQSSLASWNYNTNITEENVQNMNNAGDKWSAFLKEQSTLAQMYPLQEIQN
LTVKLQLQALQQNGSSVLSEDKSKRLNTILNTMSTIYSTGKVCNPDNPQECLLLEPGLNEIMANSLDYNERLWAWESWRSEVGKQLRPLY
EEYVVLKNEMARANHYEDYGDYWRGDYEVNGVDGYDYSRGQLIEDVEHTFEEIKPLYEHLHAYVRAKLMNAYPSYISPIGCLPAHLLGDM
WGRFWTNLYSLTVPFGQKPNIDVTDAMVDQAWDAQRIFKEAEKFFVSVGLPNMTQGFWENSMLTDPGNVQKAVCHPTAWDLGKGDFRILM
CTKVTMDDFLTAHHEMGHIQYDMAYAAQPFLLRNGANEGFHEAVGEIMSLSAATPKHLKSIGLLSPDFQEDNGSDASTIEIHTASESCNK

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

>1276_1276_2_ACE2-GPR143_ACE2_chrX_15596212_ENST00000427411_GPR143_chrX_9693880_ENST00000467482_length(amino acids)=463AA_BP=432
MSSSSWLLLSLVAVTAAQSTIEEQAKTFLDKFNHEAEDLFYQSSLASWNYNTNITEENVQNMNNAGDKWSAFLKEQSTLAQMYPLQEIQN
LTVKLQLQALQQNGSSVLSEDKSKRLNTILNTMSTIYSTGKVCNPDNPQECLLLEPGLNEIMANSLDYNERLWAWESWRSEVGKQLRPLY
EEYVVLKNEMARANHYEDYGDYWRGDYEVNGVDGYDYSRGQLIEDVEHTFEEIKPLYEHLHAYVRAKLMNAYPSYISPIGCLPAHLLGDM
WGRFWTNLYSLTVPFGQKPNIDVTDAMVDQAWDAQRIFKEAEKFFVSVGLPNMTQGFWENSMLTDPGNVQKAVCHPTAWDLGKGDFRILM
CTKVTMDDFLTAHHEMGHIQYDMAYAAQPFLLRNGANEGFHEAVGEIMSLSAATPKHLKSIGLLSPDFQEDNGSDASTIEIHTASESCNK

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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/chrX:15596212/chrX:9693880)
- 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
ACE2

Q9BYF1

GPR143

P51810

FUNCTION: Essential counter-regulatory carboxypeptidase of the renin-angiotensin hormone system that is a critical regulator of blood volume, systemic vascular resistance, and thus cardiovascular homeostasis (PubMed:27217402). Converts angiotensin I to angiotensin 1-9, a nine-amino acid peptide with anti-hypertrophic effects in cardiomyocytes, and angiotensin II to angiotensin 1-7, which then acts as a beneficial vasodilator and anti-proliferation agent, counterbalancing the actions of the vasoconstrictor angiotensin II (PubMed:10969042, PubMed:10924499, PubMed:11815627, PubMed:19021774, PubMed:14504186). Also removes the C-terminal residue from three other vasoactive peptides, neurotensin, kinetensin, and des-Arg bradykinin, but is not active on bradykinin (PubMed:10969042, PubMed:11815627). Also cleaves other biological peptides, such as apelins (apelin-13, [Pyr1]apelin-13, apelin-17, apelin-36), casomorphins (beta-casomorphin-7, neocasomorphin) and dynorphin A with high efficiency (PubMed:11815627, PubMed:27217402, PubMed:28293165). In addition, ACE2 C-terminus is homologous to collectrin and is responsible for the trafficking of the neutral amino acid transporter SL6A19 to the plasma membrane of gut epithelial cells via direct interaction, regulating its expression on the cell surface and its catalytic activity (PubMed:18424768, PubMed:19185582). {ECO:0000269|PubMed:10924499, ECO:0000269|PubMed:10969042, ECO:0000269|PubMed:11815627, ECO:0000269|PubMed:14504186, ECO:0000269|PubMed:18424768, ECO:0000269|PubMed:19021774, ECO:0000269|PubMed:19185582, ECO:0000269|PubMed:27217402}.; FUNCTION: [Isoform 2]: Non-functional as a carboxypeptidase. {ECO:0000269|PubMed:33077916}.; FUNCTION: (Microbial infection) Acts as a receptor for human coronaviruses SARS-CoV and SARS-CoV-2, as well as human coronavirus NL63/HCoV-NL63. {ECO:0000269|PubMed:14647384, ECO:0000269|PubMed:15452268, ECO:0000269|PubMed:15791205, ECO:0000269|PubMed:15897467, ECO:0000269|PubMed:24227843, ECO:0000269|PubMed:32142651, ECO:0000269|PubMed:32155444, ECO:0000269|PubMed:32221306, ECO:0000269|PubMed:32225175, ECO:0000269|PubMed:33000221, ECO:0000269|PubMed:33082294, ECO:0000269|PubMed:33432067}.; FUNCTION: [Isoform 2]: (Microbial infection) Non-functional as a receptor for human coronavirus SARS-CoV-2. {ECO:0000269|PubMed:33077916, ECO:0000269|PubMed:33432184}.FUNCTION: Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport. {ECO:0000269|PubMed:10471510, ECO:0000269|PubMed:16524428, ECO:0000269|PubMed:18697795, ECO:0000269|PubMed:18828673, ECO:0000269|PubMed:19717472}.

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
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918345_346432.3333333333333806.0RegionSubstrate binding
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019345_346432.3333333333333806.0RegionSubstrate binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918778_786432.3333333333333806.0MotifLIR
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918781_784432.3333333333333806.0MotifEndocytic sorting signal
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918781_785432.3333333333333806.0MotifSH2-binding
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918792_795432.3333333333333806.0MotifPTB
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918803_805432.3333333333333806.0MotifPDZ-binding
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019778_786432.3333333333333806.0MotifLIR
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019781_784432.3333333333333806.0MotifEndocytic sorting signal
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019781_785432.3333333333333806.0MotifSH2-binding
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019792_795432.3333333333333806.0MotifPTB
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019803_805432.3333333333333806.0MotifPDZ-binding
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918652_659432.3333333333333806.0RegionEssential for cleavage by ADAM17
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918697_716432.3333333333333806.0RegionEssential for cleavage by TMPRSS11D and TMPRSS2
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019652_659432.3333333333333806.0RegionEssential for cleavage by ADAM17
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019697_716432.3333333333333806.0RegionEssential for cleavage by TMPRSS11D and TMPRSS2
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-91818_740432.3333333333333806.0Topological domainExtracellular
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918762_805432.3333333333333806.0Topological domainCytoplasmic
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-101918_740432.3333333333333806.0Topological domainExtracellular
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019762_805432.3333333333333806.0Topological domainCytoplasmic
HgeneACE2chrX:15596212chrX:9693880ENST00000252519-918741_761432.3333333333333806.0TransmembraneHelical
HgeneACE2chrX:15596212chrX:9693880ENST00000427411-1019741_761432.3333333333333806.0TransmembraneHelical
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979222_231393.3333333333333425.0MotifNote=lysosomal/melanosomal membrane localization signal
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279222_231373.3333333333333405.0MotifNote=lysosomal/melanosomal membrane localization signal
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979221_238393.3333333333333425.0RegionNote=Necessary for its G protein-activation ability and normal distribution of melanosomes
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279221_238373.3333333333333405.0RegionNote=Necessary for its G protein-activation ability and normal distribution of melanosomes
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979100_124393.3333333333333425.0Topological domainExtracellular
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979146_149393.3333333333333425.0Topological domainCytoplasmic
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979171_191393.3333333333333425.0Topological domainExtracellular
TgeneGPR143chrX:15596212chrX:9693880ENST00000380929791_28393.3333333333333425.0Topological domainExtracellular
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979213_248393.3333333333333425.0Topological domainCytoplasmic
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979270_292393.3333333333333425.0Topological domainExtracellular
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979314_404393.3333333333333425.0Topological domainCytoplasmic
TgeneGPR143chrX:15596212chrX:9693880ENST000003809297950_78393.3333333333333425.0Topological domainCytoplasmic
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279100_124373.3333333333333405.0Topological domainExtracellular
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279146_149373.3333333333333405.0Topological domainCytoplasmic
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279171_191373.3333333333333405.0Topological domainExtracellular
TgeneGPR143chrX:15596212chrX:9693880ENST00000467482791_28373.3333333333333405.0Topological domainExtracellular
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279213_248373.3333333333333405.0Topological domainCytoplasmic
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279270_292373.3333333333333405.0Topological domainExtracellular
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279314_404373.3333333333333405.0Topological domainCytoplasmic
TgeneGPR143chrX:15596212chrX:9693880ENST000004674827950_78373.3333333333333405.0Topological domainCytoplasmic
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979125_145393.3333333333333425.0TransmembraneHelical%3B Name%3D3
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979150_170393.3333333333333425.0TransmembraneHelical%3B Name%3D4
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979192_212393.3333333333333425.0TransmembraneHelical%3B Name%3D5
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979249_269393.3333333333333425.0TransmembraneHelical%3B Name%3D6
TgeneGPR143chrX:15596212chrX:9693880ENST0000038092979293_313393.3333333333333425.0TransmembraneHelical%3B Name%3D7
TgeneGPR143chrX:15596212chrX:9693880ENST000003809297929_49393.3333333333333425.0TransmembraneHelical%3B Name%3D1
TgeneGPR143chrX:15596212chrX:9693880ENST000003809297979_99393.3333333333333425.0TransmembraneHelical%3B Name%3D2
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279125_145373.3333333333333405.0TransmembraneHelical%3B Name%3D3
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279150_170373.3333333333333405.0TransmembraneHelical%3B Name%3D4
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279192_212373.3333333333333405.0TransmembraneHelical%3B Name%3D5
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279249_269373.3333333333333405.0TransmembraneHelical%3B Name%3D6
TgeneGPR143chrX:15596212chrX:9693880ENST0000046748279293_313373.3333333333333405.0TransmembraneHelical%3B Name%3D7
TgeneGPR143chrX:15596212chrX:9693880ENST000004674827929_49373.3333333333333405.0TransmembraneHelical%3B Name%3D1
TgeneGPR143chrX:15596212chrX:9693880ENST000004674827979_99373.3333333333333405.0TransmembraneHelical%3B Name%3D2


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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
ACE2
GPR143


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 ACE2-GPR143


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 ACE2-GPR143


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