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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:EXT1-RSF1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EXT1-RSF1
FusionPDB ID: 28012
FusionGDB2.0 ID: 28012
HgeneTgene
Gene symbol

EXT1

RSF1

Gene ID

2131

51773

Gene nameexostosin glycosyltransferase 1remodeling and spacing factor 1
SynonymsEXT|LGCR|LGS|TRPS2|TTVHBXAP|RSF-1|XAP8|p325
Cytomap

8q24.11

11q14.1

Type of geneprotein-codingprotein-coding
Descriptionexostosin-1Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferaseLanger-Giedion syndrome chromosome regionN-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseexostoses (multiple) 1glucuronosyl-N-acetylglucremodeling and spacing factor 1HBV pX-associated protein 8hepatitis B virus x-associated proteinp325 subunit of RSF chromatin-remodeling complex
Modification date2020031320200313
UniProtAcc

Q16394

.
Ensembl transtripts involved in fusion geneENST idsENST00000378204, ENST00000480887, 
ENST00000530604, ENST00000308488, 
ENST00000360355, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 15 X 9=229516 X 11 X 7=1232
# samples 2319
** MAII scorelog2(23/2295*10)=-3.3187883873568
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/1232*10)=-2.69693093236395
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: EXT1 [Title/Abstract] AND RSF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EXT1(118825111)-RSF1(77451981), # samples:3
Anticipated loss of major functional domain due to fusion event.EXT1-RSF1 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.
EXT1-RSF1 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.
EXT1-RSF1 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.
EXT1-RSF1 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
HgeneEXT1

GO:0006024

glycosaminoglycan biosynthetic process

12907669

HgeneEXT1

GO:0015012

heparan sulfate proteoglycan biosynthetic process

9620772|10639137

HgeneEXT1

GO:0033692

cellular polysaccharide biosynthetic process

12907669

TgeneRSF1

GO:0006334

nucleosome assembly

12972596

TgeneRSF1

GO:0006338

chromatin remodeling

9836642

TgeneRSF1

GO:0006352

DNA-templated transcription, initiation

9836642

TgeneRSF1

GO:0016584

nucleosome positioning

9836642

TgeneRSF1

GO:0043392

negative regulation of DNA binding

12972596

TgeneRSF1

GO:0045892

negative regulation of transcription, DNA-templated

11944984

TgeneRSF1

GO:0045893

positive regulation of transcription, DNA-templated

11788598

TgeneRSF1

GO:0050434

positive regulation of viral transcription

11788598


check buttonFusion gene breakpoints across EXT1 (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 RSF1 (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
ChimerDB4BRCATCGA-BH-A1EN-01AEXT1chr8

118825111

-RSF1chr11

77451981

-
ChimerDB4BRCATCGA-BH-A1ENEXT1chr8

118825110

-RSF1chr11

77451981

-


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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)
ENST00000378204EXT1chr8118825111-ENST00000308488RSF1chr1177451981-13404252976864821904
ENST00000378204EXT1chr8118825111-ENST00000360355RSF1chr1177451981-7170252976864821904
ENST00000378204EXT1chr8118825110-ENST00000308488RSF1chr1177451981-13404252976864821904
ENST00000378204EXT1chr8118825110-ENST00000360355RSF1chr1177451981-7170252976864821904

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
ENST00000378204ENST00000308488EXT1chr8118825111-RSF1chr1177451981-0.0003482910.9996517
ENST00000378204ENST00000360355EXT1chr8118825111-RSF1chr1177451981-0.0015268580.9984731
ENST00000378204ENST00000308488EXT1chr8118825110-RSF1chr1177451981-0.0003482910.9996517
ENST00000378204ENST00000360355EXT1chr8118825110-RSF1chr1177451981-0.0015268580.9984731

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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

>28012_28012_1_EXT1-RSF1_EXT1_chr8_118825110_ENST00000378204_RSF1_chr11_77451981_ENST00000308488_length(amino acids)=1904AA_BP=587
MCLFTILLTQAGHMQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSS
VHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLS
PQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIP
PLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRF
LEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKH
ISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKH
RWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEYLCECQFDDNLKFKNIINEEDADTMRLQPIGRDKDGLMYWYQL
DQDHNVRMYIEEQDDQDGSSWKCIVRNRNELAETLALLKAQIDPVLLKNSSQQDNSSRESPSLEDEETKKEEETPKQEEQKESEKMKSEE
QPMDLENRSTANVLEETTVKKEKEDEKELVKLPVIVKLEKPLPENEEKKIIKEESDSFKENVKPIKVEVKECRADPKDTKSSMEKPVAQE
PERIEFGGNIKSSHEITEKSTEETEKLKNDQQAKIPLKKREIKLSDDFDSPVKGPLCKSVTPTKEFLKDEIKQEEETCKRISTITALGHE
GKQLVNGEVSDERVAPNFKTEPIETKFYETKEESYSPSKDRNIITEGNGTESLNSVITSMKTGELEKETAPLRKDADSSISVLEIHSQKA
QIEEPDPPEMETSLDSSEMAKDLSSKTALSSTESCTMKGEEKSPKTKKDKRPPILECLEKLEKSKKTFLDKDAQRLSPIPEEVPKSTLES
EKPGSPEAAETSPPSNIIDHCEKLASEKEVVECQSTSTVGGQSVKKVDLETLKEDSEFTKVEMDNLDNAQTSGIEEPSETKGSMQKSKFK
YKLVPEEETTASENTEITSERQKEGIKLTIRISSRKKKPDSPPKVLEPENKQEKTEKEEEKTNVGRTLRRSPRISRPTAKVAEIRDQKAD
KKRGEGEDEVEEESTALQKTDKKEILKKSEKDTNSKVSKVKPKGKVRWTGSRTRGRWKYSSNDESEGSGSEKSSAASEEEEEKESEEAIL
ADDDEPCKKCGLPNHPELILLCDSCDSGYHTACLRPPLMIIPDGEWFCPPCQHKLLCEKLEEQLQDLDVALKKKERAERRKERLVYVGIS
IENIIPPQEPDFSEDQEEKKKDSKKSKANLLERRSTRTRKCISYRFDEFDEAIDEAIEDDIKEADGGGVGRGKDISTITGHRGKDISTIL
DEERKENKRPQRAAAARRKKRRRLNDLDSDSNLDEEESEDEFKISDGSQDEFVVSDENPDESEEDPPSNDDSDTDFCSRRLRRHPSRPMR
QSRRLRRKTPKKKYSDDDEEEESEENSRDSESDFSDDFSDDFVETRRRRSRRNQKRQINYKEDSESDGSQKSLRRGKEIRRVHKRRLSSS
ESEESYLSKNSEDDELAKESKRSVRKRGRSTDEYSEADEEEEEEEGKPSRKRLHRIETDEEESCDNAHGDANQPARDSQPRVLPSEQEST
KKPYRIESDEEEDFENVGKVGSPLDYSLVDLPSTNGQSPGKAIENLIGKPTEKSQTPKDNSTASASLASNGTSGGQEAGAPEEEEDELLR

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

>28012_28012_2_EXT1-RSF1_EXT1_chr8_118825110_ENST00000378204_RSF1_chr11_77451981_ENST00000360355_length(amino acids)=1904AA_BP=587
MCLFTILLTQAGHMQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSS
VHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLS
PQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIP
PLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRF
LEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKH
ISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKH
RWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEYLCECQFDDNLKFKNIINEEDADTMRLQPIGRDKDGLMYWYQL
DQDHNVRMYIEEQDDQDGSSWKCIVRNRNELAETLALLKAQIDPVLLKNSSQQDNSSRESPSLEDEETKKEEETPKQEEQKESEKMKSEE
QPMDLENRSTANVLEETTVKKEKEDEKELVKLPVIVKLEKPLPENEEKKIIKEESDSFKENVKPIKVEVKECRADPKDTKSSMEKPVAQE
PERIEFGGNIKSSHEITEKSTEETEKLKNDQQAKIPLKKREIKLSDDFDSPVKGPLCKSVTPTKEFLKDEIKQEEETCKRISTITALGHE
GKQLVNGEVSDERVAPNFKTEPIETKFYETKEESYSPSKDRNIITEGNGTESLNSVITSMKTGELEKETAPLRKDADSSISVLEIHSQKA
QIEEPDPPEMETSLDSSEMAKDLSSKTALSSTESCTMKGEEKSPKTKKDKRPPILECLEKLEKSKKTFLDKDAQRLSPIPEEVPKSTLES
EKPGSPEAAETSPPSNIIDHCEKLASEKEVVECQSTSTVGGQSVKKVDLETLKEDSEFTKVEMDNLDNAQTSGIEEPSETKGSMQKSKFK
YKLVPEEETTASENTEITSERQKEGIKLTIRISSRKKKPDSPPKVLEPENKQEKTEKEEEKTNVGRTLRRSPRISRPTAKVAEIRDQKAD
KKRGEGEDEVEEESTALQKTDKKEILKKSEKDTNSKVSKVKPKGKVRWTGSRTRGRWKYSSNDESEGSGSEKSSAASEEEEEKESEEAIL
ADDDEPCKKCGLPNHPELILLCDSCDSGYHTACLRPPLMIIPDGEWFCPPCQHKLLCEKLEEQLQDLDVALKKKERAERRKERLVYVGIS
IENIIPPQEPDFSEDQEEKKKDSKKSKANLLERRSTRTRKCISYRFDEFDEAIDEAIEDDIKEADGGGVGRGKDISTITGHRGKDISTIL
DEERKENKRPQRAAAARRKKRRRLNDLDSDSNLDEEESEDEFKISDGSQDEFVVSDENPDESEEDPPSNDDSDTDFCSRRLRRHPSRPMR
QSRRLRRKTPKKKYSDDDEEEESEENSRDSESDFSDDFSDDFVETRRRRSRRNQKRQINYKEDSESDGSQKSLRRGKEIRRVHKRRLSSS
ESEESYLSKNSEDDELAKESKRSVRKRGRSTDEYSEADEEEEEEEGKPSRKRLHRIETDEEESCDNAHGDANQPARDSQPRVLPSEQEST
KKPYRIESDEEEDFENVGKVGSPLDYSLVDLPSTNGQSPGKAIENLIGKPTEKSQTPKDNSTASASLASNGTSGGQEAGAPEEEEDELLR

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

>28012_28012_3_EXT1-RSF1_EXT1_chr8_118825111_ENST00000378204_RSF1_chr11_77451981_ENST00000308488_length(amino acids)=1904AA_BP=587
MCLFTILLTQAGHMQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSS
VHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLS
PQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIP
PLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRF
LEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKH
ISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKH
RWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEYLCECQFDDNLKFKNIINEEDADTMRLQPIGRDKDGLMYWYQL
DQDHNVRMYIEEQDDQDGSSWKCIVRNRNELAETLALLKAQIDPVLLKNSSQQDNSSRESPSLEDEETKKEEETPKQEEQKESEKMKSEE
QPMDLENRSTANVLEETTVKKEKEDEKELVKLPVIVKLEKPLPENEEKKIIKEESDSFKENVKPIKVEVKECRADPKDTKSSMEKPVAQE
PERIEFGGNIKSSHEITEKSTEETEKLKNDQQAKIPLKKREIKLSDDFDSPVKGPLCKSVTPTKEFLKDEIKQEEETCKRISTITALGHE
GKQLVNGEVSDERVAPNFKTEPIETKFYETKEESYSPSKDRNIITEGNGTESLNSVITSMKTGELEKETAPLRKDADSSISVLEIHSQKA
QIEEPDPPEMETSLDSSEMAKDLSSKTALSSTESCTMKGEEKSPKTKKDKRPPILECLEKLEKSKKTFLDKDAQRLSPIPEEVPKSTLES
EKPGSPEAAETSPPSNIIDHCEKLASEKEVVECQSTSTVGGQSVKKVDLETLKEDSEFTKVEMDNLDNAQTSGIEEPSETKGSMQKSKFK
YKLVPEEETTASENTEITSERQKEGIKLTIRISSRKKKPDSPPKVLEPENKQEKTEKEEEKTNVGRTLRRSPRISRPTAKVAEIRDQKAD
KKRGEGEDEVEEESTALQKTDKKEILKKSEKDTNSKVSKVKPKGKVRWTGSRTRGRWKYSSNDESEGSGSEKSSAASEEEEEKESEEAIL
ADDDEPCKKCGLPNHPELILLCDSCDSGYHTACLRPPLMIIPDGEWFCPPCQHKLLCEKLEEQLQDLDVALKKKERAERRKERLVYVGIS
IENIIPPQEPDFSEDQEEKKKDSKKSKANLLERRSTRTRKCISYRFDEFDEAIDEAIEDDIKEADGGGVGRGKDISTITGHRGKDISTIL
DEERKENKRPQRAAAARRKKRRRLNDLDSDSNLDEEESEDEFKISDGSQDEFVVSDENPDESEEDPPSNDDSDTDFCSRRLRRHPSRPMR
QSRRLRRKTPKKKYSDDDEEEESEENSRDSESDFSDDFSDDFVETRRRRSRRNQKRQINYKEDSESDGSQKSLRRGKEIRRVHKRRLSSS
ESEESYLSKNSEDDELAKESKRSVRKRGRSTDEYSEADEEEEEEEGKPSRKRLHRIETDEEESCDNAHGDANQPARDSQPRVLPSEQEST
KKPYRIESDEEEDFENVGKVGSPLDYSLVDLPSTNGQSPGKAIENLIGKPTEKSQTPKDNSTASASLASNGTSGGQEAGAPEEEEDELLR

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

>28012_28012_4_EXT1-RSF1_EXT1_chr8_118825111_ENST00000378204_RSF1_chr11_77451981_ENST00000360355_length(amino acids)=1904AA_BP=587
MCLFTILLTQAGHMQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSS
VHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLS
PQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIP
PLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRF
LEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKH
ISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKH
RWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEYLCECQFDDNLKFKNIINEEDADTMRLQPIGRDKDGLMYWYQL
DQDHNVRMYIEEQDDQDGSSWKCIVRNRNELAETLALLKAQIDPVLLKNSSQQDNSSRESPSLEDEETKKEEETPKQEEQKESEKMKSEE
QPMDLENRSTANVLEETTVKKEKEDEKELVKLPVIVKLEKPLPENEEKKIIKEESDSFKENVKPIKVEVKECRADPKDTKSSMEKPVAQE
PERIEFGGNIKSSHEITEKSTEETEKLKNDQQAKIPLKKREIKLSDDFDSPVKGPLCKSVTPTKEFLKDEIKQEEETCKRISTITALGHE
GKQLVNGEVSDERVAPNFKTEPIETKFYETKEESYSPSKDRNIITEGNGTESLNSVITSMKTGELEKETAPLRKDADSSISVLEIHSQKA
QIEEPDPPEMETSLDSSEMAKDLSSKTALSSTESCTMKGEEKSPKTKKDKRPPILECLEKLEKSKKTFLDKDAQRLSPIPEEVPKSTLES
EKPGSPEAAETSPPSNIIDHCEKLASEKEVVECQSTSTVGGQSVKKVDLETLKEDSEFTKVEMDNLDNAQTSGIEEPSETKGSMQKSKFK
YKLVPEEETTASENTEITSERQKEGIKLTIRISSRKKKPDSPPKVLEPENKQEKTEKEEEKTNVGRTLRRSPRISRPTAKVAEIRDQKAD
KKRGEGEDEVEEESTALQKTDKKEILKKSEKDTNSKVSKVKPKGKVRWTGSRTRGRWKYSSNDESEGSGSEKSSAASEEEEEKESEEAIL
ADDDEPCKKCGLPNHPELILLCDSCDSGYHTACLRPPLMIIPDGEWFCPPCQHKLLCEKLEEQLQDLDVALKKKERAERRKERLVYVGIS
IENIIPPQEPDFSEDQEEKKKDSKKSKANLLERRSTRTRKCISYRFDEFDEAIDEAIEDDIKEADGGGVGRGKDISTITGHRGKDISTIL
DEERKENKRPQRAAAARRKKRRRLNDLDSDSNLDEEESEDEFKISDGSQDEFVVSDENPDESEEDPPSNDDSDTDFCSRRLRRHPSRPMR
QSRRLRRKTPKKKYSDDDEEEESEENSRDSESDFSDDFSDDFVETRRRRSRRNQKRQINYKEDSESDGSQKSLRRGKEIRRVHKRRLSSS
ESEESYLSKNSEDDELAKESKRSVRKRGRSTDEYSEADEEEEEEEGKPSRKRLHRIETDEEESCDNAHGDANQPARDSQPRVLPSEQEST
KKPYRIESDEEEDFENVGKVGSPLDYSLVDLPSTNGQSPGKAIENLIGKPTEKSQTPKDNSTASASLASNGTSGGQEAGAPEEEEDELLR

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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/chr8:118825111/chr11:77451981)
- 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
EXT1

Q16394

.
FUNCTION: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). {ECO:0000269|PubMed:11518722, ECO:0000269|PubMed:22660413}.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
HgeneEXT1chr8:118825110chr11:77451981ENST00000378204-811544_549574.0747.0RegionSubstrate binding
HgeneEXT1chr8:118825110chr11:77451981ENST00000378204-811565_567574.0747.0RegionSubstrate binding
HgeneEXT1chr8:118825111chr11:77451981ENST00000378204-811544_549574.0747.0RegionSubstrate binding
HgeneEXT1chr8:118825111chr11:77451981ENST00000378204-811565_567574.0747.0RegionSubstrate binding
HgeneEXT1chr8:118825110chr11:77451981ENST00000378204-8111_7574.0747.0Topological domainCytoplasmic
HgeneEXT1chr8:118825111chr11:77451981ENST00000378204-8111_7574.0747.0Topological domainCytoplasmic
HgeneEXT1chr8:118825110chr11:77451981ENST00000378204-8118_28574.0747.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneEXT1chr8:118825111chr11:77451981ENST00000378204-8118_28574.0747.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneRSF1chr8:118825110chr11:77451981ENST00000308488216942_1012124.01442.0Coiled coilOntology_term=ECO:0000255
TgeneRSF1chr8:118825110chr11:77451981ENST00000360355115942_101293.01411.0Coiled coilOntology_term=ECO:0000255
TgeneRSF1chr8:118825110chr11:77451981ENST00000480887011942_101201190.0Coiled coilOntology_term=ECO:0000255
TgeneRSF1chr8:118825111chr11:77451981ENST00000308488216942_1012124.01442.0Coiled coilOntology_term=ECO:0000255
TgeneRSF1chr8:118825111chr11:77451981ENST00000360355115942_101293.01411.0Coiled coilOntology_term=ECO:0000255
TgeneRSF1chr8:118825111chr11:77451981ENST00000480887011942_101201190.0Coiled coilOntology_term=ECO:0000255
TgeneRSF1chr8:118825110chr11:77451981ENST000003084882161080_1083124.01442.0Compositional biasNote=Poly-Ala
TgeneRSF1chr8:118825110chr11:77451981ENST000003084882161146_1243124.01442.0Compositional biasNote=Arg-rich
TgeneRSF1chr8:118825110chr11:77451981ENST000003084882161286_1292124.01442.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825110chr11:77451981ENST000003084882161419_1424124.01442.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825110chr11:77451981ENST00000308488216226_372124.01442.0Compositional biasNote=Glu-rich
TgeneRSF1chr8:118825110chr11:77451981ENST00000308488216875_884124.01442.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825110chr11:77451981ENST000003603551151080_108393.01411.0Compositional biasNote=Poly-Ala
TgeneRSF1chr8:118825110chr11:77451981ENST000003603551151146_124393.01411.0Compositional biasNote=Arg-rich
TgeneRSF1chr8:118825110chr11:77451981ENST000003603551151286_129293.01411.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825110chr11:77451981ENST000003603551151419_142493.01411.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825110chr11:77451981ENST00000360355115226_37293.01411.0Compositional biasNote=Glu-rich
TgeneRSF1chr8:118825110chr11:77451981ENST00000360355115875_88493.01411.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825110chr11:77451981ENST000004808870111080_108301190.0Compositional biasNote=Poly-Ala
TgeneRSF1chr8:118825110chr11:77451981ENST000004808870111146_124301190.0Compositional biasNote=Arg-rich
TgeneRSF1chr8:118825110chr11:77451981ENST000004808870111286_129201190.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825110chr11:77451981ENST000004808870111419_142401190.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825110chr11:77451981ENST00000480887011226_37201190.0Compositional biasNote=Glu-rich
TgeneRSF1chr8:118825110chr11:77451981ENST00000480887011875_88401190.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825111chr11:77451981ENST000003084882161080_1083124.01442.0Compositional biasNote=Poly-Ala
TgeneRSF1chr8:118825111chr11:77451981ENST000003084882161146_1243124.01442.0Compositional biasNote=Arg-rich
TgeneRSF1chr8:118825111chr11:77451981ENST000003084882161286_1292124.01442.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825111chr11:77451981ENST000003084882161419_1424124.01442.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825111chr11:77451981ENST00000308488216226_372124.01442.0Compositional biasNote=Glu-rich
TgeneRSF1chr8:118825111chr11:77451981ENST00000308488216875_884124.01442.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825111chr11:77451981ENST000003603551151080_108393.01411.0Compositional biasNote=Poly-Ala
TgeneRSF1chr8:118825111chr11:77451981ENST000003603551151146_124393.01411.0Compositional biasNote=Arg-rich
TgeneRSF1chr8:118825111chr11:77451981ENST000003603551151286_129293.01411.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825111chr11:77451981ENST000003603551151419_142493.01411.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825111chr11:77451981ENST00000360355115226_37293.01411.0Compositional biasNote=Glu-rich
TgeneRSF1chr8:118825111chr11:77451981ENST00000360355115875_88493.01411.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825111chr11:77451981ENST000004808870111080_108301190.0Compositional biasNote=Poly-Ala
TgeneRSF1chr8:118825111chr11:77451981ENST000004808870111146_124301190.0Compositional biasNote=Arg-rich
TgeneRSF1chr8:118825111chr11:77451981ENST000004808870111286_129201190.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825111chr11:77451981ENST000004808870111419_142401190.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825111chr11:77451981ENST00000480887011226_37201190.0Compositional biasNote=Glu-rich
TgeneRSF1chr8:118825111chr11:77451981ENST00000480887011875_88401190.0Compositional biasNote=Poly-Glu
TgeneRSF1chr8:118825110chr11:77451981ENST0000048088701117_8401190.0DomainNote=DDT
TgeneRSF1chr8:118825111chr11:77451981ENST0000048088701117_8401190.0DomainNote=DDT
TgeneRSF1chr8:118825110chr11:77451981ENST00000308488216891_941124.01442.0Zinc fingerPHD-type
TgeneRSF1chr8:118825110chr11:77451981ENST00000360355115891_94193.01411.0Zinc fingerPHD-type
TgeneRSF1chr8:118825110chr11:77451981ENST00000480887011891_94101190.0Zinc fingerPHD-type
TgeneRSF1chr8:118825111chr11:77451981ENST00000308488216891_941124.01442.0Zinc fingerPHD-type
TgeneRSF1chr8:118825111chr11:77451981ENST00000360355115891_94193.01411.0Zinc fingerPHD-type
TgeneRSF1chr8:118825111chr11:77451981ENST00000480887011891_94101190.0Zinc fingerPHD-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEXT1chr8:118825110chr11:77451981ENST00000378204-811650_654574.0747.0RegionSubstrate binding
HgeneEXT1chr8:118825110chr11:77451981ENST00000378204-811688_701574.0747.0RegionSubstrate binding
HgeneEXT1chr8:118825111chr11:77451981ENST00000378204-811650_654574.0747.0RegionSubstrate binding
HgeneEXT1chr8:118825111chr11:77451981ENST00000378204-811688_701574.0747.0RegionSubstrate binding
HgeneEXT1chr8:118825110chr11:77451981ENST00000378204-81129_746574.0747.0Topological domainLumenal
HgeneEXT1chr8:118825111chr11:77451981ENST00000378204-81129_746574.0747.0Topological domainLumenal
TgeneRSF1chr8:118825110chr11:77451981ENST0000030848821617_84124.01442.0DomainNote=DDT
TgeneRSF1chr8:118825110chr11:77451981ENST0000036035511517_8493.01411.0DomainNote=DDT
TgeneRSF1chr8:118825111chr11:77451981ENST0000030848821617_84124.01442.0DomainNote=DDT
TgeneRSF1chr8:118825111chr11:77451981ENST0000036035511517_8493.01411.0DomainNote=DDT


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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
EXT1
RSF1


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 EXT1-RSF1


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 EXT1-RSF1


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