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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:THOC2-BRWD3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: THOC2-BRWD3
FusionPDB ID: 90658
FusionGDB2.0 ID: 90658
HgeneTgene
Gene symbol

THOC2

BRWD3

Gene ID

57187

254065

Gene nameTHO complex 2bromodomain and WD repeat domain containing 3
SynonymsCXorf3|MRX12|MRX35|THO2|dJ506G2.1|hTREX120BRODL|MRX93
Cytomap

Xq25

Xq21.1

Type of geneprotein-codingprotein-coding
DescriptionTHO complex subunit 2mental retardation, X-linked 12mental retardation, X-linked 35bromodomain and WD repeat-containing protein 3bromo domain-containing protein disrupted in leukemianovel WD repeat domain protein
Modification date2020032920200313
UniProtAcc.

Q6RI45

Ensembl transtripts involved in fusion geneENST idsENST00000245838, ENST00000355725, 
ENST00000491737, ENST00000497887, 
ENST00000373275, ENST00000473691, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score7 X 7 X 4=1962 X 2 X 2=8
# samples 72
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: THOC2 [Title/Abstract] AND BRWD3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)THOC2(122744769)-BRWD3(80049271), # samples:1
Anticipated loss of major functional domain due to fusion event.THOC2-BRWD3 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.
THOC2-BRWD3 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
HgeneTHOC2

GO:0006406

mRNA export from nucleus

17190602

HgeneTHOC2

GO:0016973

poly(A)+ mRNA export from nucleus

22928037

HgeneTHOC2

GO:0046784

viral mRNA export from host cell nucleus

18974867


check buttonFusion gene breakpoints across THOC2 (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 BRWD3 (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
ChimerDB4STADTCGA-BR-A4IY-01ATHOC2chrX

122744769

-BRWD3chrX

80049271

-


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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)
ENST00000491737THOC2chrX122744769-ENST00000373275BRWD3chrX80049271-154364452458496801698

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
ENST00000491737ENST00000373275THOC2chrX122744769-BRWD3chrX80049271-0.061767610.93823236

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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

>90658_90658_1_THOC2-BRWD3_THOC2_chrX_122744769_ENST00000491737_BRWD3_chrX_80049271_ENST00000373275_length(amino acids)=1698AA_BP=
MLRDAKDCKSTLWNGSAFAALHRGRPPELPVNYVKPPNVVNITSARQLTGCSRFGHIFPSSAYQHIKMHKRILGHLSSVYCVAFDRSGRR
IFTGSDDCLVKIWATDDGRLLATLRGHSAEISDMAVNYENTLIAAGSCDKVVRVWCLRTCAPVAVLQGHSASITSIQFCPSTKGTNRYLT
STGADGTICFWQWHVKTMKFRDRPVKFTERSRPGVQISCSSFSSGGMFITTGSTDHVIRIYYLGSEVPEKIAELESHTDKVVAVQFCNNG
DSLRFVSGSRDGTARIWQYQQQEWKSIVLDMATKMTGNNLPSGEDKITKLKVTMVAWDRYDTTVITAVNNFLLKVWNSITGQLLHTLSGH
DDEVFVLEAHPFDQRIILSAGHDGNIFIWDLDRGTKIRNYFNMIEGQGHGAVFDCKFSPDGNHFACTDSHGHLLLFGFGCSKYYEKIPDQ
MFFHTDYRPLIRDANNYVLDEQTQQAPHLMPPPFLVDVDGNPHPTKFQRLVPGRENCKDEQLIPQLGYVANGDGEVVEQVIGQQTNDQDE
SILDGIIRELQREQDLRLINEGDVPHLPVNRAYSVNGALRSPNMDISSSPNIRLRRHSSQIEGVRQMHNNAPRSQMATERDLMAWSRRVV
VNELNNGVSRVQEECRTAKGDIEISLYTVEKKKKPSYTTQRNDYEPSCGRSLRRTQRKRQHTYQTRSNIEHNSQASCQNSGVQEDSDSSS
EEDETVGTSDASVEDPVVEWQSESSSSDSSSEYSDWTADAGINLQPPKRQTRQTTRKICSSSDEENLKSLEERQKKPKQTRKKKGGLVSI
AGEPNEEWFAPQWILDTIPRRSPFVPQMGDELIYFRQGHEAYVRAVRKSKIYSVNLQKQPWNKMDLREQEFVKIVGIKYEVGPPTLCCLK
LAFLDPISGKMTGESFSIKYHDMPDVIDFLVLHQFYNEAKERNWQIGDRFRSIIDDAWWFGTVESQQPFQPEYPDSSFQCYSVHWDNNER
EKMSPWDMEPIPEGTAFPDEVGAGVPVSQEELTALLYKPQEGEWGAHSRDEECERVIQGINHLLSLDFASPFAVPVDLSAYPLYCTVVAY
PTDLNTIRRRLENRFYRRISALMWEVRYIEHNARTFNEPDSPIVKAAKIVTDVLLRFIGDQSCTDILDTYNKIKAEERNSTDAEEDTEIV
DLDSDGPGTSSGRKVKCRGRRQSLKCNPDAWKKQCKELLSLIYEREDSEPFRQPADLLSYPGHQEQEGESSESVVPERQQDSSLSEDYQD
VIDTPVDFSTVKETLEAGNYGSPLEFYKDVRQIFNNSKAYTSNKKSRIYSMMLRLSALFESHIKNIISEYKSAIQSQKRRRPRYRKRLRS
SSSSLSSSGAPSPKGKQKQMKLQPKNDQNTSVSHARTSSPFSSPVSDAAEGLSLYLLDDEPDGPFSSSSFGGYSRSGNSHDPGKAKSFRN
RVLPVKQDHSLDGPLTNGDGREPRTGIKRKLLSASEEDENMGGEDKEKKETKEKSHLSTSESGELGSSLSSESTCGSDSDSESTSRTDQD
YVDGDHDYSKFIQTRPKRKLRKQHGNGKRNWKTRGTGGRGRWGRWGRWSRGGRGRGGRGRGSRGRGGGGTRGRGRGRGGRGASRGATRAK

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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:122744769/chrX:80049271)
- 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
.BRWD3

Q6RI45

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: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000269|PubMed:21834987}.

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
HgeneTHOC2chrX:122744769chrX:80049271ENST00000245838-38391464_14911600.01814.3333333333333Coiled coilOntology_term=ECO:0000255
HgeneTHOC2chrX:122744769chrX:80049271ENST00000245838-3839293_3391600.01814.3333333333333Coiled coilOntology_term=ECO:0000255
HgeneTHOC2chrX:122744769chrX:80049271ENST00000245838-3839896_9651600.01814.3333333333333Coiled coilOntology_term=ECO:0000255
HgeneTHOC2chrX:122744769chrX:80049271ENST00000355725-38391464_14911600.01586.6666666666667Coiled coilOntology_term=ECO:0000255
HgeneTHOC2chrX:122744769chrX:80049271ENST00000355725-3839293_3391600.01586.6666666666667Coiled coilOntology_term=ECO:0000255
HgeneTHOC2chrX:122744769chrX:80049271ENST00000355725-3839896_9651600.01586.6666666666667Coiled coilOntology_term=ECO:0000255
HgeneTHOC2chrX:122744769chrX:80049271ENST00000491737-34341464_14911484.01479.0Coiled coilOntology_term=ECO:0000255
HgeneTHOC2chrX:122744769chrX:80049271ENST00000491737-3434293_3391484.01479.0Coiled coilOntology_term=ECO:0000255
HgeneTHOC2chrX:122744769chrX:80049271ENST00000491737-3434896_9651484.01479.0Coiled coilOntology_term=ECO:0000255
HgeneTHOC2chrX:122744769chrX:80049271ENST00000245838-38391264_15911600.01814.3333333333333Compositional biasNote=Lys-rich
HgeneTHOC2chrX:122744769chrX:80049271ENST00000355725-38391264_15911600.01586.6666666666667Compositional biasNote=Lys-rich
HgeneTHOC2chrX:122744769chrX:80049271ENST00000491737-34341264_15911484.01479.0Compositional biasNote=Lys-rich
HgeneTHOC2chrX:122744769chrX:80049271ENST00000245838-3839923_9281600.01814.3333333333333MotifNuclear localization signal
HgeneTHOC2chrX:122744769chrX:80049271ENST00000355725-3839923_9281600.01586.6666666666667MotifNuclear localization signal
HgeneTHOC2chrX:122744769chrX:80049271ENST00000491737-3434923_9281484.01479.0MotifNuclear localization signal
TgeneBRWD3chrX:122744769chrX:80049271ENST000003732753411659_171960.01803.0Compositional biasNote=Gly-rich
TgeneBRWD3chrX:122744769chrX:80049271ENST000003732753411158_122860.01803.0DomainBromo 1
TgeneBRWD3chrX:122744769chrX:80049271ENST000003732753411317_141260.01803.0DomainBromo 2
TgeneBRWD3chrX:122744769chrX:80049271ENST00000373275341170_20960.01803.0RepeatNote=WD 1
TgeneBRWD3chrX:122744769chrX:80049271ENST00000373275341213_25160.01803.0RepeatNote=WD 2
TgeneBRWD3chrX:122744769chrX:80049271ENST00000373275341255_29760.01803.0RepeatNote=WD 3
TgeneBRWD3chrX:122744769chrX:80049271ENST00000373275341307_34760.01803.0RepeatNote=WD 4
TgeneBRWD3chrX:122744769chrX:80049271ENST00000373275341353_39360.01803.0RepeatNote=WD 5
TgeneBRWD3chrX:122744769chrX:80049271ENST00000373275341400_45260.01803.0RepeatNote=WD 6
TgeneBRWD3chrX:122744769chrX:80049271ENST00000373275341456_49560.01803.0RepeatNote=WD 7
TgeneBRWD3chrX:122744769chrX:80049271ENST00000373275341502_54260.01803.0RepeatNote=WD 8

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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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
THOC2
BRWD3


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 THOC2-BRWD3


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 THOC2-BRWD3


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