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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:BAP1-TCEA3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BAP1-TCEA3
FusionPDB ID: 8975
FusionGDB2.0 ID: 8975
HgeneTgene
Gene symbol

BAP1

TCEA3

Gene ID

9223

6920

Gene namemembrane associated guanylate kinase, WW and PDZ domain containing 1transcription elongation factor A3
SynonymsAIP-3|AIP3|BAIAP1|BAP-1|BAP1|MAGI-1|MAGI-1b|Magi1d|TNRC19|WWP3TFIIS|TFIIS.H
Cytomap

3p14.1

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionmembrane-associated guanylate kinase, WW and PDZ domain-containing protein 1BAI1-associated protein 1WW domain-containing protein 3atrophin-1-interacting protein 3membrane-associated guanylate kinase inverted 1trinucleotide repeat-containing gene 19 transcription elongation factor A protein 3rhabdomyosarcoma antigen MU-RMS-40.22transcription elongation factor A (SII), 3transcription elongation factor S-II protein 3transcription elongation factor TFIIS.h
Modification date2020031320200313
UniProtAcc

Q8IXM2

.
Ensembl transtripts involved in fusion geneENST idsENST00000296288, ENST00000460680, 
ENST00000461794, ENST00000374601, 
ENST00000450454, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 13 X 7=10927 X 8 X 4=224
# samples 138
** MAII scorelog2(13/1092*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BAP1 [Title/Abstract] AND TCEA3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BAP1(52439781)-TCEA3(23745632), # samples:2
BAP1(52440269)-TCEA3(23745632), # samples:2
Anticipated loss of major functional domain due to fusion event.BAP1-TCEA3 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.
BAP1-TCEA3 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.
BAP1-TCEA3 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.
BAP1-TCEA3 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.
BAP1-TCEA3 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BAP1-TCEA3 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BAP1-TCEA3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BAP1-TCEA3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BAP1-TCEA3 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor 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
HgeneBAP1

GO:0022409

positive regulation of cell-cell adhesion

20298433


check buttonFusion gene breakpoints across BAP1 (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 TCEA3 (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
ChimerDB4MESOTCGA-MQ-A4LC-01ABAP1chr3

52439781

-TCEA3chr1

23745632

-
ChimerDB4MESOTCGA-MQ-A4LC-01ABAP1chr3

52440269

-TCEA3chr1

23745632

-


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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)
ENST00000460680BAP1chr352440269-ENST00000450454TCEA3chr123745632-263812554722232586
ENST00000460680BAP1chr352440269-ENST00000374601TCEA3chr123745632-23091255123031399
ENST00000296288BAP1chr352440269-ENST00000450454TCEA3chr123745632-2148765361742568
ENST00000296288BAP1chr352440269-ENST00000374601TCEA3chr123745632-1819765361160374

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
ENST00000460680ENST00000450454BAP1chr352440269-TCEA3chr123745632-0.0082552820.9917447
ENST00000460680ENST00000374601BAP1chr352440269-TCEA3chr123745632-0.0067449930.993255
ENST00000296288ENST00000450454BAP1chr352440269-TCEA3chr123745632-0.0084001480.9915999
ENST00000296288ENST00000374601BAP1chr352440269-TCEA3chr123745632-0.0045704920.9954295

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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

>8975_8975_1_BAP1-TCEA3_BAP1_chr3_52440269_ENST00000296288_TCEA3_chr1_23745632_ENST00000374601_length(amino acids)=374AA_BP=240
MNKGWLELESDPGLFTLLVEDFGVKGVQVEEIYDLQSKCQGPVYGFIFLFKWIEERRSRRKVSTLVDDTSVIDDDIVNNMFFAHQLIPNS
CATHALLSVLLNCSSVDLGPTLSRMKDFTKGFSPESKGYAIGNAPELAKAHNSHARPEPRHLPEKQNGLSAVRTMEAFHFVSYVPITGRL
FELDGLKVYPIDHGPWGEDEEWTDKARRVIMERIGLATAGIKYEARLHVLKVNRQTVLEALQQEGALDLLKKLHSCQMSIQLLQTTRIGV
AVNGVRKHCSDKEVVSLAKVLIKNWKRLLDSPGPPKGEKGEEREKAKKKEKGLECSDWKPEAGLSPPRKKREDPKTRRDSVDSKSSASSS

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

>8975_8975_2_BAP1-TCEA3_BAP1_chr3_52440269_ENST00000296288_TCEA3_chr1_23745632_ENST00000450454_length(amino acids)=568AA_BP=240
MNKGWLELESDPGLFTLLVEDFGVKGVQVEEIYDLQSKCQGPVYGFIFLFKWIEERRSRRKVSTLVDDTSVIDDDIVNNMFFAHQLIPNS
CATHALLSVLLNCSSVDLGPTLSRMKDFTKGFSPESKGYAIGNAPELAKAHNSHARPEPRHLPEKQNGLSAVRTMEAFHFVSYVPITGRL
FELDGLKVYPIDHGPWGEDEEWTDKARRVIMERIGLATAGIKYEARLHVLKVNRQTVLEALQQEGALDLLKKLHSCQMSIQLLQTTRIGV
AVNGVRKHCSDKEVVSLAKVLIKNWKRLLDSPGPPKGEKGEEREKAKKKEKGLECSDWKPEAGLSPPRKKREDPKTRRDSVDSKSSASSS
PKRPSVERSNSSKSKAESPKTPSSPLTPTFASSMCLLAPCYLTGDSVRDKCVEMLSAALKADDDYKDYGVNCDKMASEIEDHIYQELKST
DMKYRNRVRSRISNLKDPRNPGLRRNVLSGAISAGLIAKMTAEEMASDELRELRNAMTQEAIREHQMAKTGGTTTDLFQCSKCKKKNCTY

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

>8975_8975_3_BAP1-TCEA3_BAP1_chr3_52440269_ENST00000460680_TCEA3_chr1_23745632_ENST00000374601_length(amino acids)=399AA_BP=
MTVHLQHMQPGLILDPAVGHHCHQVEADVVVGLPCSGEADTLHDDPPGLVCPLLVLPPGPMVNGVDLQPIQLKEPACDRHIADKVERLHG
PHCTKAILLLREVAWLGPGMAIMGLGQLRGIANRISFALRAETLGEVLHATQGGSQVHAAAVQEHAQQGMSCTRVGYQLVGKEHVIHNII
INHGRIIHQGRDLSPGPALFDPFEQEDKSIYRALTFALKVVDLLHLHPLDTEIFHEQGEEAWVALQLQPALIHLPAGRPLSAMSRPSLPT
AAPTGSPHRPRGPSVPHTDNGPSRVTRPRRRQTSPRRDGPAPPLGSSSACRTADAGMRSKANAHARRDGGEGEGRGRRGGAGRDGTGAKG

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

>8975_8975_4_BAP1-TCEA3_BAP1_chr3_52440269_ENST00000460680_TCEA3_chr1_23745632_ENST00000450454_length(amino acids)=586AA_BP=258
MNKGWLELESDPGLFTLLVEDFGVKGVQVEEIYDLQSKCQGPVYGFIFLFKWIEERRSRRKVSTLVDDTSVIDDDIVNNMFFAHQLIPNS
CATHALLSVLLNCSSVDLGPTLSRMKDFTKGFSPESKGYAIGNAPELAKAHNSHARPEPRHLPEKQNGLSAVRTMEAFHFVSYVPITGRL
FELDGLKVYPIDHGPWGEDEEWTDKARRVIMERIGLATAGEPYHDIRFNLMAVVPDRRIKYEARLHVLKVNRQTVLEALQQEGALDLLKK
LHSCQMSIQLLQTTRIGVAVNGVRKHCSDKEVVSLAKVLIKNWKRLLDSPGPPKGEKGEEREKAKKKEKGLECSDWKPEAGLSPPRKKRE
DPKTRRDSVDSKSSASSSPKRPSVERSNSSKSKAESPKTPSSPLTPTFASSMCLLAPCYLTGDSVRDKCVEMLSAALKADDDYKDYGVNC
DKMASEIEDHIYQELKSTDMKYRNRVRSRISNLKDPRNPGLRRNVLSGAISAGLIAKMTAEEMASDELRELRNAMTQEAIREHQMAKTGG

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

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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/chr3:52439781/chr1:23745632)
- 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
BAP1

Q8IXM2

.
FUNCTION: Component of chromatin complexes such as the MLL1/MLL and NURF complexes.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
TgeneTCEA3chr3:52440269chr1:23745632ENST00000450454011130_17323.0349.0Compositional biasNote=Ser-rich
TgeneTCEA3chr3:52440269chr1:23745632ENST00000450454011187_30323.0349.0DomainTFIIS central
TgeneTCEA3chr3:52440269chr1:23745632ENST00000450454011306_34623.0349.0Zinc fingerTFIIS-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBAP1chr3:52440269chr1:23745632ENST00000460680-917630_661261.0730.0Coiled coilOntology_term=ECO:0000255
TgeneTCEA3chr3:52440269chr1:23745632ENST000004504540115_8223.0349.0DomainTFIIS N-terminal


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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
BAP1
TCEA3


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
HgeneBAP1chr3:52440269chr1:23745632ENST00000460680-917596_721261.0730.0BRCA1


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Related Drugs to BAP1-TCEA3


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 BAP1-TCEA3


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