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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:SMARCC1-ITGB4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SMARCC1-ITGB4
FusionPDB ID: 83942
FusionGDB2.0 ID: 83942
HgeneTgene
Gene symbol

SMARCC1

ITGB4

Gene ID

6599

3691

Gene nameSWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1integrin subunit beta 4
SynonymsBAF155|CRACC1|Rsc8|SRG3|SWI3CD104|GP150
Cytomap

3p21.31

17q25.1

Type of geneprotein-codingprotein-coding
DescriptionSWI/SNF complex subunit SMARCC1BRG1-associated factor 155SWI/SNF complex 155 kDa subunitSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1chromatin remodeling complex BAF155 subunitmammalian chromatin remodeintegrin beta-4CD104 antigen
Modification date2020031320200329
UniProtAcc.

P16144

Ensembl transtripts involved in fusion geneENST idsENST00000254480, ENST00000425518, 
ENST00000584558, ENST00000200181, 
ENST00000339591, ENST00000449880, 
ENST00000450894, ENST00000579662, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 26 X 11=54348 X 8 X 7=448
# samples 379
** MAII scorelog2(37/5434*10)=-3.87641738970566
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/448*10)=-2.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SMARCC1 [Title/Abstract] AND ITGB4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SMARCC1(47676680)-ITGB4(73744922), # samples:2
Anticipated loss of major functional domain due to fusion event.SMARCC1-ITGB4 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.
SMARCC1-ITGB4 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.
SMARCC1-ITGB4 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.
SMARCC1-ITGB4 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
HgeneSMARCC1

GO:0006337

nucleosome disassembly

8895581

HgeneSMARCC1

GO:0006338

chromatin remodeling

10078207|11018012|11726552

HgeneSMARCC1

GO:0045893

positive regulation of transcription, DNA-templated

11018012

TgeneITGB4

GO:0009611

response to wounding

19403692

TgeneITGB4

GO:0031581

hemidesmosome assembly

12482924


check buttonFusion gene breakpoints across SMARCC1 (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 ITGB4 (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
ChimerDB4GBMTCGA-27-2526-01ASMARCC1chr3

47676680

-ITGB4chr17

73744922

+


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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)
ENST00000254480SMARCC1chr347676680-ENST00000579662ITGB4chr1773744922+496327669649131605
ENST00000254480SMARCC1chr347676680-ENST00000339591ITGB4chr1773744922+533527669650721658
ENST00000254480SMARCC1chr347676680-ENST00000200181ITGB4chr1773744922+538727669651231675
ENST00000254480SMARCC1chr347676680-ENST00000450894ITGB4chr1773744922+517427669649131605
ENST00000254480SMARCC1chr347676680-ENST00000449880ITGB4chr1773744922+533627669650721658

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
ENST00000254480ENST00000579662SMARCC1chr347676680-ITGB4chr1773744922+0.0015224480.9984775
ENST00000254480ENST00000339591SMARCC1chr347676680-ITGB4chr1773744922+0.0014575880.9985424
ENST00000254480ENST00000200181SMARCC1chr347676680-ITGB4chr1773744922+0.0019381110.99806184
ENST00000254480ENST00000450894SMARCC1chr347676680-ITGB4chr1773744922+0.0014961970.9985038
ENST00000254480ENST00000449880SMARCC1chr347676680-ITGB4chr1773744922+0.0014624690.99853754

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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

>83942_83942_1_SMARCC1-ITGB4_SMARCC1_chr3_47676680_ENST00000254480_ITGB4_chr17_73744922_ENST00000200181_length(amino acids)=1675AA_BP=890
MWGRRAATMAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVV
QLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYL
IPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKP
WKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLY
GKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNV
TEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQW
GLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFGLRTDIYSKKTLAKSKGASAGRE
WTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVAS
AAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGAEEEKMEADPDGQQPEKAENKVENETD
EGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKDYIPVEGELL
FQPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKA
AGSRKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLA
FNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLA
TQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTGCGWKFEPLLGEELDLRRVTWRLPPELIPRLSASSGRS
SDAEAPHGPPDDGGAGGKGGSLPRSATPGPPGEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTR
SEHSHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLLNGGELHRLNIPNPAQTSVVV
EDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVT
CEMAQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGSRAGLFQHPLQSEYSSITTTH

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>83942_83942_2_SMARCC1-ITGB4_SMARCC1_chr3_47676680_ENST00000254480_ITGB4_chr17_73744922_ENST00000339591_length(amino acids)=1658AA_BP=890
MWGRRAATMAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVV
QLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYL
IPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKP
WKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLY
GKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNV
TEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQW
GLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFGLRTDIYSKKTLAKSKGASAGRE
WTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVAS
AAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGAEEEKMEADPDGQQPEKAENKVENETD
EGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKDYIPVEGELL
FQPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKA
AGSRKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLA
FNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLA
TQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHV
PHRVLSTSSTLTRDYNSLTRSEHSHSTTLPRDYSTLTSVSSHGLPPIWEHGRSRLPLSWALGSRSRAQMKGFPPSRGPRDSIILAGRPAA
PSWGPDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLLNGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQS
QEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDG
DSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQ

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>83942_83942_3_SMARCC1-ITGB4_SMARCC1_chr3_47676680_ENST00000254480_ITGB4_chr17_73744922_ENST00000449880_length(amino acids)=1658AA_BP=890
MWGRRAATMAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVV
QLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYL
IPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKP
WKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLY
GKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNV
TEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQW
GLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFGLRTDIYSKKTLAKSKGASAGRE
WTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVAS
AAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGAEEEKMEADPDGQQPEKAENKVENETD
EGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKDYIPVEGELL
FQPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKA
AGSRKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLA
FNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLA
TQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHV
PHRVLSTSSTLTRDYNSLTRSEHSHSTTLPRDYSTLTSVSSHGLPPIWEHGRSRLPLSWALGSRSRAQMKGFPPSRGPRDSIILAGRPAA
PSWGPDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLLNGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQS
QEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDG
DSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQ

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>83942_83942_4_SMARCC1-ITGB4_SMARCC1_chr3_47676680_ENST00000254480_ITGB4_chr17_73744922_ENST00000450894_length(amino acids)=1605AA_BP=890
MWGRRAATMAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVV
QLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYL
IPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKP
WKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLY
GKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNV
TEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQW
GLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFGLRTDIYSKKTLAKSKGASAGRE
WTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVAS
AAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGAEEEKMEADPDGQQPEKAENKVENETD
EGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKDYIPVEGELL
FQPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKA
AGSRKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLA
FNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLA
TQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHV
PHRVLSTSSTLTRDYNSLTRSEHSHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLL
NGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSL
QLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGS

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>83942_83942_5_SMARCC1-ITGB4_SMARCC1_chr3_47676680_ENST00000254480_ITGB4_chr17_73744922_ENST00000579662_length(amino acids)=1605AA_BP=890
MWGRRAATMAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVV
QLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYL
IPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKP
WKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLY
GKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNV
TEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQW
GLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFGLRTDIYSKKTLAKSKGASAGRE
WTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVAS
AAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGAEEEKMEADPDGQQPEKAENKVENETD
EGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKDYIPVEGELL
FQPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKA
AGSRKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLA
FNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLA
TQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHV
PHRVLSTSSTLTRDYNSLTRSEHSHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLL
NGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSL
QLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGGPFPQLGS

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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/chr3:47676680/chr17:73744922)
- 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
.ITGB4

P16144

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: Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). {ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22351760, ECO:0000269|PubMed:28873464}.

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
HgeneSMARCC1chr3:47676680chr17:73744922ENST00000254480-2428329_336882.01106.0Compositional biasNote=Poly-Pro
HgeneSMARCC1chr3:47676680chr17:73744922ENST00000254480-2428769_863882.01106.0Compositional biasNote=Glu-rich
HgeneSMARCC1chr3:47676680chr17:73744922ENST00000254480-2428867_878882.01106.0Compositional biasNote=Poly-Ala
HgeneSMARCC1chr3:47676680chr17:73744922ENST00000254480-2428449_546882.01106.0DomainSWIRM
HgeneSMARCC1chr3:47676680chr17:73744922ENST00000254480-2428618_669882.01106.0DomainSANT
TgeneITGB4chr3:47676680chr17:73744922ENST0000020018125401129_12181037.01823.0DomainFibronectin type-III 1
TgeneITGB4chr3:47676680chr17:73744922ENST0000020018125401222_13211037.01823.0DomainFibronectin type-III 2
TgeneITGB4chr3:47676680chr17:73744922ENST0000020018125401530_16251037.01823.0DomainFibronectin type-III 3
TgeneITGB4chr3:47676680chr17:73744922ENST0000020018125401643_17391037.01823.0DomainFibronectin type-III 4
TgeneITGB4chr3:47676680chr17:73744922ENST0000033959125401129_12181037.01806.0DomainFibronectin type-III 1
TgeneITGB4chr3:47676680chr17:73744922ENST0000033959125401222_13211037.01806.0DomainFibronectin type-III 2
TgeneITGB4chr3:47676680chr17:73744922ENST0000033959125401530_16251037.01806.0DomainFibronectin type-III 3
TgeneITGB4chr3:47676680chr17:73744922ENST0000033959125401643_17391037.01806.0DomainFibronectin type-III 4
TgeneITGB4chr3:47676680chr17:73744922ENST0000044988024391129_12181037.01806.0DomainFibronectin type-III 1
TgeneITGB4chr3:47676680chr17:73744922ENST0000044988024391222_13211037.01806.0DomainFibronectin type-III 2
TgeneITGB4chr3:47676680chr17:73744922ENST0000044988024391530_16251037.01806.0DomainFibronectin type-III 3
TgeneITGB4chr3:47676680chr17:73744922ENST0000044988024391643_17391037.01806.0DomainFibronectin type-III 4
TgeneITGB4chr3:47676680chr17:73744922ENST0000045089425391129_12181037.01753.0DomainFibronectin type-III 1
TgeneITGB4chr3:47676680chr17:73744922ENST0000045089425391222_13211037.01753.0DomainFibronectin type-III 2
TgeneITGB4chr3:47676680chr17:73744922ENST0000045089425391530_16251037.01753.0DomainFibronectin type-III 3
TgeneITGB4chr3:47676680chr17:73744922ENST0000045089425391643_17391037.01753.0DomainFibronectin type-III 4
TgeneITGB4chr3:47676680chr17:73744922ENST0000057966225391129_12181037.01753.0DomainFibronectin type-III 1
TgeneITGB4chr3:47676680chr17:73744922ENST0000057966225391222_13211037.01753.0DomainFibronectin type-III 2
TgeneITGB4chr3:47676680chr17:73744922ENST0000057966225391530_16251037.01753.0DomainFibronectin type-III 3
TgeneITGB4chr3:47676680chr17:73744922ENST0000057966225391643_17391037.01753.0DomainFibronectin type-III 4

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMARCC1chr3:47676680chr17:73744922ENST00000254480-2428914_946882.01106.0Coiled coilOntology_term=ECO:0000255
HgeneSMARCC1chr3:47676680chr17:73744922ENST00000254480-2428977_1105882.01106.0Compositional biasNote=Pro-rich
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540131_3291037.01823.0DomainNote=VWFA
TgeneITGB4chr3:47676680chr17:73744922ENST00000200181254029_731037.01823.0DomainNote=PSI
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540979_10841037.01823.0DomainNote=Calx-beta
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540131_3291037.01806.0DomainNote=VWFA
TgeneITGB4chr3:47676680chr17:73744922ENST00000339591254029_731037.01806.0DomainNote=PSI
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540979_10841037.01806.0DomainNote=Calx-beta
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439131_3291037.01806.0DomainNote=VWFA
TgeneITGB4chr3:47676680chr17:73744922ENST00000449880243929_731037.01806.0DomainNote=PSI
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439979_10841037.01806.0DomainNote=Calx-beta
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539131_3291037.01753.0DomainNote=VWFA
TgeneITGB4chr3:47676680chr17:73744922ENST00000450894253929_731037.01753.0DomainNote=PSI
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539979_10841037.01753.0DomainNote=Calx-beta
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539131_3291037.01753.0DomainNote=VWFA
TgeneITGB4chr3:47676680chr17:73744922ENST00000579662253929_731037.01753.0DomainNote=PSI
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539979_10841037.01753.0DomainNote=Calx-beta
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540194_1991037.01823.0RegionInvolved in NRG1- and IGF1-binding
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540456_6191037.01823.0RegionNote=Cysteine-rich tandem repeats
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540732_7491037.01823.0RegionNote=Palmitoylated on several cysteines
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540194_1991037.01806.0RegionInvolved in NRG1- and IGF1-binding
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540456_6191037.01806.0RegionNote=Cysteine-rich tandem repeats
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540732_7491037.01806.0RegionNote=Palmitoylated on several cysteines
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439194_1991037.01806.0RegionInvolved in NRG1- and IGF1-binding
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439456_6191037.01806.0RegionNote=Cysteine-rich tandem repeats
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439732_7491037.01806.0RegionNote=Palmitoylated on several cysteines
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539194_1991037.01753.0RegionInvolved in NRG1- and IGF1-binding
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539456_6191037.01753.0RegionNote=Cysteine-rich tandem repeats
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539732_7491037.01753.0RegionNote=Palmitoylated on several cysteines
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539194_1991037.01753.0RegionInvolved in NRG1- and IGF1-binding
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539456_6191037.01753.0RegionNote=Cysteine-rich tandem repeats
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539732_7491037.01753.0RegionNote=Palmitoylated on several cysteines
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540456_5021037.01823.0RepeatNote=I
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540503_5421037.01823.0RepeatNote=II
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540543_5811037.01823.0RepeatNote=III
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540582_6191037.01823.0RepeatNote=IV
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540456_5021037.01806.0RepeatNote=I
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540503_5421037.01806.0RepeatNote=II
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540543_5811037.01806.0RepeatNote=III
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540582_6191037.01806.0RepeatNote=IV
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439456_5021037.01806.0RepeatNote=I
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439503_5421037.01806.0RepeatNote=II
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439543_5811037.01806.0RepeatNote=III
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439582_6191037.01806.0RepeatNote=IV
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539456_5021037.01753.0RepeatNote=I
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539503_5421037.01753.0RepeatNote=II
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539543_5811037.01753.0RepeatNote=III
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539582_6191037.01753.0RepeatNote=IV
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539456_5021037.01753.0RepeatNote=I
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539503_5421037.01753.0RepeatNote=II
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539543_5811037.01753.0RepeatNote=III
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539582_6191037.01753.0RepeatNote=IV
TgeneITGB4chr3:47676680chr17:73744922ENST00000200181254028_7101037.01823.0Topological domainExtracellular
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540734_18221037.01823.0Topological domainCytoplasmic
TgeneITGB4chr3:47676680chr17:73744922ENST00000339591254028_7101037.01806.0Topological domainExtracellular
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540734_18221037.01806.0Topological domainCytoplasmic
TgeneITGB4chr3:47676680chr17:73744922ENST00000449880243928_7101037.01806.0Topological domainExtracellular
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439734_18221037.01806.0Topological domainCytoplasmic
TgeneITGB4chr3:47676680chr17:73744922ENST00000450894253928_7101037.01753.0Topological domainExtracellular
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539734_18221037.01753.0Topological domainCytoplasmic
TgeneITGB4chr3:47676680chr17:73744922ENST00000579662253928_7101037.01753.0Topological domainExtracellular
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539734_18221037.01753.0Topological domainCytoplasmic
TgeneITGB4chr3:47676680chr17:73744922ENST000002001812540711_7331037.01823.0TransmembraneHelical
TgeneITGB4chr3:47676680chr17:73744922ENST000003395912540711_7331037.01806.0TransmembraneHelical
TgeneITGB4chr3:47676680chr17:73744922ENST000004498802439711_7331037.01806.0TransmembraneHelical
TgeneITGB4chr3:47676680chr17:73744922ENST000004508942539711_7331037.01753.0TransmembraneHelical
TgeneITGB4chr3:47676680chr17:73744922ENST000005796622539711_7331037.01753.0TransmembraneHelical


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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
SMARCC1
ITGB4


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 SMARCC1-ITGB4


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 SMARCC1-ITGB4


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