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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:TBL1Y-GPR143

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: TBL1Y-GPR143
FusionPDB ID: 89580
FusionGDB2.0 ID: 89580
HgeneTgene
Gene symbol

TBL1Y

GPR143

Gene ID

90665

4935

Gene nametransducin beta like 1 Y-linkedG protein-coupled receptor 143
SynonymsDFNY2|TBL1NYS6|OA1
Cytomap

Yp11.2

Xp22.2

Type of geneprotein-codingprotein-coding
DescriptionF-box-like/WD repeat-containing protein TBL1Ytransducin beta-like 1transducin beta-like protein 1Ytransducin-beta-like protein 1, Y-linkedG-protein coupled receptor 143ocular albinism 1ocular albinism type 1 protein
Modification date2020031320200313
UniProtAcc.

P51810

Ensembl transtripts involved in fusion geneENST idsENST00000346432, ENST00000355162, 
ENST00000383032, 		ENST00000487206, 
ENST00000467482, ENST00000380929, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 2 X 3=184 X 4 X 4=64
# samples 35
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(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: TBL1Y [Title/Abstract] AND GPR143 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)TBL1Y(6942661)-GPR143(9693880), # samples:1
Anticipated loss of major functional domain due to fusion event.TBL1Y-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.
TBL1Y-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.
TBL1Y-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.
TBL1Y-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.
TBL1Y-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
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 TBL1Y (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
ChimerDB4BLCATCGA-CU-A3KJTBL1YchrY

6942661

+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)
ENST00000355162TBL1YchrY6942661+ENST00000380929GPR143chrX9693880-199815716161665349
ENST00000346432TBL1YchrY6942661+ENST00000380929GPR143chrX9693880-193415075521601349
ENST00000383032TBL1YchrY6942661+ENST00000380929GPR143chrX9693880-202916026471696349

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
ENST00000355162ENST00000380929TBL1YchrY6942661+GPR143chrX9693880-0.0046467090.99535334
ENST00000346432ENST00000380929TBL1YchrY6942661+GPR143chrX9693880-0.0038770060.996123
ENST00000383032ENST00000380929TBL1YchrY6942661+GPR143chrX9693880-0.0045457750.9954542

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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

>89580_89580_1_TBL1Y-GPR143_TBL1Y_chrY_6942661_ENST00000346432_GPR143_chrX_9693880_ENST00000380929_length(amino acids)=349AA_BP=318
MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPSALISILQKGLQYVEAEISINKDGTVFDSRPIESLSLIVAVIPD
VVQMRQQAFGEKLTQQQASAAATEASAMAKAATMTPAAISQQNPPKNREATVNGEENGAHEINNHSKPMEIDGDVEIPPNKATVLRGHES
EVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNSDGTLLAMGSYDGFARIWTENGNLAS

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

>89580_89580_2_TBL1Y-GPR143_TBL1Y_chrY_6942661_ENST00000355162_GPR143_chrX_9693880_ENST00000380929_length(amino acids)=349AA_BP=318
MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPSALISILQKGLQYVEAEISINKDGTVFDSRPIESLSLIVAVIPD
VVQMRQQAFGEKLTQQQASAAATEASAMAKAATMTPAAISQQNPPKNREATVNGEENGAHEINNHSKPMEIDGDVEIPPNKATVLRGHES
EVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNSDGTLLAMGSYDGFARIWTENGNLAS

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

>89580_89580_3_TBL1Y-GPR143_TBL1Y_chrY_6942661_ENST00000383032_GPR143_chrX_9693880_ENST00000380929_length(amino acids)=349AA_BP=318
MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPSALISILQKGLQYVEAEISINKDGTVFDSRPIESLSLIVAVIPD
VVQMRQQAFGEKLTQQQASAAATEASAMAKAATMTPAAISQQNPPKNREATVNGEENGAHEINNHSKPMEIDGDVEIPPNKATVLRGHES
EVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNSDGTLLAMGSYDGFARIWTENGNLAS

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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/chrY:6942661/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
.GPR143

P51810

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.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
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+121841_86318.3333333333333523.0DomainNote=F-box-like
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+12184_36318.3333333333333523.0DomainLisH
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+121841_86318.3333333333333523.0DomainNote=F-box-like
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+12184_36318.3333333333333523.0DomainLisH
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+131941_86318.3333333333333523.0DomainNote=F-box-like
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+13194_36318.3333333333333523.0DomainLisH
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+1218177_216318.3333333333333523.0RepeatNote=WD 1
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+1218233_272318.3333333333333523.0RepeatNote=WD 2
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+1218274_313318.3333333333333523.0RepeatNote=WD 3
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+1218177_216318.3333333333333523.0RepeatNote=WD 1
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+1218233_272318.3333333333333523.0RepeatNote=WD 2
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+1218274_313318.3333333333333523.0RepeatNote=WD 3
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+1319177_216318.3333333333333523.0RepeatNote=WD 1
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+1319233_272318.3333333333333523.0RepeatNote=WD 2
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+1319274_313318.3333333333333523.0RepeatNote=WD 3

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+1218316_354318.3333333333333523.0RepeatNote=WD 4
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+1218357_396318.3333333333333523.0RepeatNote=WD 5
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+1218399_447318.3333333333333523.0RepeatNote=WD 6
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+1218450_489318.3333333333333523.0RepeatNote=WD 7
HgeneTBL1YchrY:6942661chrX:9693880ENST00000346432+1218491_521318.3333333333333523.0RepeatNote=WD 8
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+1218316_354318.3333333333333523.0RepeatNote=WD 4
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+1218357_396318.3333333333333523.0RepeatNote=WD 5
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+1218399_447318.3333333333333523.0RepeatNote=WD 6
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+1218450_489318.3333333333333523.0RepeatNote=WD 7
HgeneTBL1YchrY:6942661chrX:9693880ENST00000355162+1218491_521318.3333333333333523.0RepeatNote=WD 8
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+1319316_354318.3333333333333523.0RepeatNote=WD 4
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+1319357_396318.3333333333333523.0RepeatNote=WD 5
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+1319399_447318.3333333333333523.0RepeatNote=WD 6
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+1319450_489318.3333333333333523.0RepeatNote=WD 7
HgeneTBL1YchrY:6942661chrX:9693880ENST00000383032+1319491_521318.3333333333333523.0RepeatNote=WD 8
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979222_231393.3333333333333425.0MotifNote=lysosomal/melanosomal membrane localization signal
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279222_231373.3333333333333405.0MotifNote=lysosomal/melanosomal membrane localization signal
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979221_238393.3333333333333425.0RegionNote=Necessary for its G protein-activation ability and normal distribution of melanosomes
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279221_238373.3333333333333405.0RegionNote=Necessary for its G protein-activation ability and normal distribution of melanosomes
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979100_124393.3333333333333425.0Topological domainExtracellular
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979146_149393.3333333333333425.0Topological domainCytoplasmic
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979171_191393.3333333333333425.0Topological domainExtracellular
TgeneGPR143chrY:6942661chrX:9693880ENST00000380929791_28393.3333333333333425.0Topological domainExtracellular
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979213_248393.3333333333333425.0Topological domainCytoplasmic
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979270_292393.3333333333333425.0Topological domainExtracellular
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979314_404393.3333333333333425.0Topological domainCytoplasmic
TgeneGPR143chrY:6942661chrX:9693880ENST000003809297950_78393.3333333333333425.0Topological domainCytoplasmic
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279100_124373.3333333333333405.0Topological domainExtracellular
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279146_149373.3333333333333405.0Topological domainCytoplasmic
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279171_191373.3333333333333405.0Topological domainExtracellular
TgeneGPR143chrY:6942661chrX:9693880ENST00000467482791_28373.3333333333333405.0Topological domainExtracellular
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279213_248373.3333333333333405.0Topological domainCytoplasmic
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279270_292373.3333333333333405.0Topological domainExtracellular
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279314_404373.3333333333333405.0Topological domainCytoplasmic
TgeneGPR143chrY:6942661chrX:9693880ENST000004674827950_78373.3333333333333405.0Topological domainCytoplasmic
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979125_145393.3333333333333425.0TransmembraneHelical%3B Name%3D3
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979150_170393.3333333333333425.0TransmembraneHelical%3B Name%3D4
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979192_212393.3333333333333425.0TransmembraneHelical%3B Name%3D5
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979249_269393.3333333333333425.0TransmembraneHelical%3B Name%3D6
TgeneGPR143chrY:6942661chrX:9693880ENST0000038092979293_313393.3333333333333425.0TransmembraneHelical%3B Name%3D7
TgeneGPR143chrY:6942661chrX:9693880ENST000003809297929_49393.3333333333333425.0TransmembraneHelical%3B Name%3D1
TgeneGPR143chrY:6942661chrX:9693880ENST000003809297979_99393.3333333333333425.0TransmembraneHelical%3B Name%3D2
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279125_145373.3333333333333405.0TransmembraneHelical%3B Name%3D3
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279150_170373.3333333333333405.0TransmembraneHelical%3B Name%3D4
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279192_212373.3333333333333405.0TransmembraneHelical%3B Name%3D5
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279249_269373.3333333333333405.0TransmembraneHelical%3B Name%3D6
TgeneGPR143chrY:6942661chrX:9693880ENST0000046748279293_313373.3333333333333405.0TransmembraneHelical%3B Name%3D7
TgeneGPR143chrY:6942661chrX:9693880ENST000004674827929_49373.3333333333333405.0TransmembraneHelical%3B Name%3D1
TgeneGPR143chrY:6942661chrX: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
TBL1Y
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 TBL1Y-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 TBL1Y-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