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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:IL6ST-SKIV2L2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: IL6ST-SKIV2L2
FusionPDB ID: 39593
FusionGDB2.0 ID: 39593
HgeneTgene
Gene symbol

IL6ST

SKIV2L2

Gene ID

3572

23517

Gene nameinterleukin 6 signal transducerMtr4 exosome RNA helicase
SynonymsCD130|CDW130|GP130|HIES4|IL-6RB|sGP130Dob1|KIAA0052|Mtr4|SKIV2L2|fSAP118
Cytomap

5q11.2

5q11.2

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-6 receptor subunit betaCD130 antigenIL-6 receptor subunit betaIL-6R subunit betagp130 of the rheumatoid arthritis antigenic peptide-bearing soluble formgp130, oncostatin M receptorinterleukin receptor beta chainmembrane glycoprotein 130exosome RNA helicase MTR4ATP-dependent RNA helicase DOB1ATP-dependent RNA helicase SKIV2L2ATP-dependent helicase SKIV2L2Ski2 like RNA helicase 2TRAMP-like complex helicasefunctional spliceosome-associated protein 118superkiller viralicidic activity
Modification date2020032720200313
UniProtAcc

P40189

.
Ensembl transtripts involved in fusion geneENST idsENST00000381287, ENST00000522633, 
ENST00000536319, ENST00000336909, 
ENST00000381294, ENST00000381298, 
ENST00000502326, ENST00000381286, 
ENST00000381293, ENST00000396816, 
ENST00000577363, 		ENST00000230640, 
ENST00000545714, ENST00000504388, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 11 X 5=8809 X 8 X 7=504
# samples 199
** MAII scorelog2(19/880*10)=-2.21150410519371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/504*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: IL6ST [Title/Abstract] AND SKIV2L2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)IL6ST(55251853)-SKIV2L2(54639159), # samples:1
Anticipated loss of major functional domain due to fusion event.IL6ST-SKIV2L2 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.
IL6ST-SKIV2L2 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.
IL6ST-SKIV2L2 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.
IL6ST-SKIV2L2 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.
IL6ST-SKIV2L2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
IL6ST-SKIV2L2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
IL6ST-SKIV2L2 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneIL6ST

GO:0008284

positive regulation of cell proliferation

2261637

HgeneIL6ST

GO:0019221

cytokine-mediated signaling pathway

2261637

HgeneIL6ST

GO:0034097

response to cytokine

2261637|8999038

HgeneIL6ST

GO:0048861

leukemia inhibitory factor signaling pathway

8999038|12643274

HgeneIL6ST

GO:0070120

ciliary neurotrophic factor-mediated signaling pathway

12643274

TgeneSKIV2L2

GO:0006401

RNA catabolic process

29906447


check buttonFusion gene breakpoints across IL6ST (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 SKIV2L2 (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-AR-A0TZ-01AIL6STchr5

55251853

-SKIV2L2chr5

54639159

+


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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)
ENST00000381298IL6STchr555251853-ENST00000230640SKIV2L2chr554639159+4737158031339271204
ENST00000381298IL6STchr555251853-ENST00000545714SKIV2L2chr554639159+4262158031339271204
ENST00000336909IL6STchr555251853-ENST00000230640SKIV2L2chr554639159+44601303636501214
ENST00000336909IL6STchr555251853-ENST00000545714SKIV2L2chr554639159+39851303636501214
ENST00000381294IL6STchr555251853-ENST00000230640SKIV2L2chr554639159+44241267036141204
ENST00000381294IL6STchr555251853-ENST00000545714SKIV2L2chr554639159+39491267036141204

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
ENST00000381298ENST00000230640IL6STchr555251853-SKIV2L2chr554639159+0.0001805760.99981946
ENST00000381298ENST00000545714IL6STchr555251853-SKIV2L2chr554639159+0.0002098410.99979013
ENST00000336909ENST00000230640IL6STchr555251853-SKIV2L2chr554639159+0.0001370860.9998629
ENST00000336909ENST00000545714IL6STchr555251853-SKIV2L2chr554639159+0.0001616070.99983835
ENST00000381294ENST00000230640IL6STchr555251853-SKIV2L2chr554639159+0.0001381840.99986184
ENST00000381294ENST00000545714IL6STchr555251853-SKIV2L2chr554639159+0.000161750.99983823

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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

>39593_39593_1_IL6ST-SKIV2L2_IL6ST_chr5_55251853_ENST00000336909_SKIV2L2_chr5_54639159_ENST00000230640_length(amino acids)=1214AA_BP=430
MCLLQKYPRKMLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYT
IINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFA
DCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQ
YRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLV
WKTLPPFEANGKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQERGVVWEETIILLPDNVH
YVFLSATIPNARQFAEWICHLHKQPCHVIYTDYRPTPLQHYIFPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGDQKGRKGGT
KGPSNVFKIVKMIMERNFQPVIIFSFSKKDCEAYALQMTKLDFNTDEEKKMVEEVFSNAIDCLSDEDKKLPQVEHVLPLLKRGIGIHHGG
LLPILKETIEILFSEGLIKALFATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAGRRGMDDRGIVILMVDEKMSPTIG
KQLLKGSADPLNSAFHLTYNMVLNLLRVEEINPEYMLEKSFYQFQHYRAIPGVVEKVKNSEEQYNKIVIPNEESVVIYYKIRQQLAKLGK
EIEEYIHKPKYCLPFLQPGRLVKVKNEGDDFGWGVVVNFSKKSNVKPNSGELDPLYVVEVLLRCSKESLKNSATEAAKPAKPDEKGEMQV
VPVLVHLLSAISSVRLYIPKDLRPVDNRQSVLKSIQEVQKRFPDGIPLLDPIDDMGIQDQGLKKVIQKVEAFEHRMYSHPLHNDPNLETV
YTLCEKKAQIAIDIKSAKRELKKARTVLQMDELKCRKRVLRRLGFATSSDVIEMKGRVACEISSADELLLTEMMFNGLFNDLSAEQATAL
LSCFVFQENSSEMPKLTEQLAGPLRQMQECAKRIAKVSAEAKLEIDEETYLSSFKPHLMDVVYTWATGATFAHICKMTDVFEGSIIRCMR

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

>39593_39593_2_IL6ST-SKIV2L2_IL6ST_chr5_55251853_ENST00000336909_SKIV2L2_chr5_54639159_ENST00000545714_length(amino acids)=1214AA_BP=430
MCLLQKYPRKMLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYT
IINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFA
DCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQ
YRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLV
WKTLPPFEANGKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQERGVVWEETIILLPDNVH
YVFLSATIPNARQFAEWICHLHKQPCHVIYTDYRPTPLQHYIFPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGDQKGRKGGT
KGPSNVFKIVKMIMERNFQPVIIFSFSKKDCEAYALQMTKLDFNTDEEKKMVEEVFSNAIDCLSDEDKKLPQVEHVLPLLKRGIGIHHGG
LLPILKETIEILFSEGLIKALFATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAGRRGMDDRGIVILMVDEKMSPTIG
KQLLKGSADPLNSAFHLTYNMVLNLLRVEEINPEYMLEKSFYQFQHYRAIPGVVEKVKNSEEQYNKIVIPNEESVVIYYKIRQQLAKLGK
EIEEYIHKPKYCLPFLQPGRLVKVKNEGDDFGWGVVVNFSKKSNVKPNSGELDPLYVVEVLLRCSKESLKNSATEAAKPAKPDEKGEMQV
VPVLVHLLSAISSVRLYIPKDLRPVDNRQSVLKSIQEVQKRFPDGIPLLDPIDDMGIQDQGLKKVIQKVEAFEHRMYSHPLHNDPNLETV
YTLCEKKAQIAIDIKSAKRELKKARTVLQMDELKCRKRVLRRLGFATSSDVIEMKGRVACEISSADELLLTEMMFNGLFNDLSAEQATAL
LSCFVFQENSSEMPKLTEQLAGPLRQMQECAKRIAKVSAEAKLEIDEETYLSSFKPHLMDVVYTWATGATFAHICKMTDVFEGSIIRCMR

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

>39593_39593_3_IL6ST-SKIV2L2_IL6ST_chr5_55251853_ENST00000381294_SKIV2L2_chr5_54639159_ENST00000230640_length(amino acids)=1204AA_BP=420
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVT
FTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPT
SCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWS
QIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEAN
GKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQERGVVWEETIILLPDNVHYVFLSATIPN
ARQFAEWICHLHKQPCHVIYTDYRPTPLQHYIFPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGDQKGRKGGTKGPSNVFKIV
KMIMERNFQPVIIFSFSKKDCEAYALQMTKLDFNTDEEKKMVEEVFSNAIDCLSDEDKKLPQVEHVLPLLKRGIGIHHGGLLPILKETIE
ILFSEGLIKALFATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAGRRGMDDRGIVILMVDEKMSPTIGKQLLKGSADP
LNSAFHLTYNMVLNLLRVEEINPEYMLEKSFYQFQHYRAIPGVVEKVKNSEEQYNKIVIPNEESVVIYYKIRQQLAKLGKEIEEYIHKPK
YCLPFLQPGRLVKVKNEGDDFGWGVVVNFSKKSNVKPNSGELDPLYVVEVLLRCSKESLKNSATEAAKPAKPDEKGEMQVVPVLVHLLSA
ISSVRLYIPKDLRPVDNRQSVLKSIQEVQKRFPDGIPLLDPIDDMGIQDQGLKKVIQKVEAFEHRMYSHPLHNDPNLETVYTLCEKKAQI
AIDIKSAKRELKKARTVLQMDELKCRKRVLRRLGFATSSDVIEMKGRVACEISSADELLLTEMMFNGLFNDLSAEQATALLSCFVFQENS
SEMPKLTEQLAGPLRQMQECAKRIAKVSAEAKLEIDEETYLSSFKPHLMDVVYTWATGATFAHICKMTDVFEGSIIRCMRRLEELLRQMC

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

>39593_39593_4_IL6ST-SKIV2L2_IL6ST_chr5_55251853_ENST00000381294_SKIV2L2_chr5_54639159_ENST00000545714_length(amino acids)=1204AA_BP=420
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVT
FTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPT
SCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWS
QIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEAN
GKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQERGVVWEETIILLPDNVHYVFLSATIPN
ARQFAEWICHLHKQPCHVIYTDYRPTPLQHYIFPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGDQKGRKGGTKGPSNVFKIV
KMIMERNFQPVIIFSFSKKDCEAYALQMTKLDFNTDEEKKMVEEVFSNAIDCLSDEDKKLPQVEHVLPLLKRGIGIHHGGLLPILKETIE
ILFSEGLIKALFATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAGRRGMDDRGIVILMVDEKMSPTIGKQLLKGSADP
LNSAFHLTYNMVLNLLRVEEINPEYMLEKSFYQFQHYRAIPGVVEKVKNSEEQYNKIVIPNEESVVIYYKIRQQLAKLGKEIEEYIHKPK
YCLPFLQPGRLVKVKNEGDDFGWGVVVNFSKKSNVKPNSGELDPLYVVEVLLRCSKESLKNSATEAAKPAKPDEKGEMQVVPVLVHLLSA
ISSVRLYIPKDLRPVDNRQSVLKSIQEVQKRFPDGIPLLDPIDDMGIQDQGLKKVIQKVEAFEHRMYSHPLHNDPNLETVYTLCEKKAQI
AIDIKSAKRELKKARTVLQMDELKCRKRVLRRLGFATSSDVIEMKGRVACEISSADELLLTEMMFNGLFNDLSAEQATALLSCFVFQENS
SEMPKLTEQLAGPLRQMQECAKRIAKVSAEAKLEIDEETYLSSFKPHLMDVVYTWATGATFAHICKMTDVFEGSIIRCMRRLEELLRQMC

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

>39593_39593_5_IL6ST-SKIV2L2_IL6ST_chr5_55251853_ENST00000381298_SKIV2L2_chr5_54639159_ENST00000230640_length(amino acids)=1204AA_BP=420
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVT
FTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPT
SCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWS
QIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEAN
GKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQERGVVWEETIILLPDNVHYVFLSATIPN
ARQFAEWICHLHKQPCHVIYTDYRPTPLQHYIFPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGDQKGRKGGTKGPSNVFKIV
KMIMERNFQPVIIFSFSKKDCEAYALQMTKLDFNTDEEKKMVEEVFSNAIDCLSDEDKKLPQVEHVLPLLKRGIGIHHGGLLPILKETIE
ILFSEGLIKALFATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAGRRGMDDRGIVILMVDEKMSPTIGKQLLKGSADP
LNSAFHLTYNMVLNLLRVEEINPEYMLEKSFYQFQHYRAIPGVVEKVKNSEEQYNKIVIPNEESVVIYYKIRQQLAKLGKEIEEYIHKPK
YCLPFLQPGRLVKVKNEGDDFGWGVVVNFSKKSNVKPNSGELDPLYVVEVLLRCSKESLKNSATEAAKPAKPDEKGEMQVVPVLVHLLSA
ISSVRLYIPKDLRPVDNRQSVLKSIQEVQKRFPDGIPLLDPIDDMGIQDQGLKKVIQKVEAFEHRMYSHPLHNDPNLETVYTLCEKKAQI
AIDIKSAKRELKKARTVLQMDELKCRKRVLRRLGFATSSDVIEMKGRVACEISSADELLLTEMMFNGLFNDLSAEQATALLSCFVFQENS
SEMPKLTEQLAGPLRQMQECAKRIAKVSAEAKLEIDEETYLSSFKPHLMDVVYTWATGATFAHICKMTDVFEGSIIRCMRRLEELLRQMC

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

>39593_39593_6_IL6ST-SKIV2L2_IL6ST_chr5_55251853_ENST00000381298_SKIV2L2_chr5_54639159_ENST00000545714_length(amino acids)=1204AA_BP=420
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVT
FTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPT
SCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWS
QIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEAN
GKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQERGVVWEETIILLPDNVHYVFLSATIPN
ARQFAEWICHLHKQPCHVIYTDYRPTPLQHYIFPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGDQKGRKGGTKGPSNVFKIV
KMIMERNFQPVIIFSFSKKDCEAYALQMTKLDFNTDEEKKMVEEVFSNAIDCLSDEDKKLPQVEHVLPLLKRGIGIHHGGLLPILKETIE
ILFSEGLIKALFATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAGRRGMDDRGIVILMVDEKMSPTIGKQLLKGSADP
LNSAFHLTYNMVLNLLRVEEINPEYMLEKSFYQFQHYRAIPGVVEKVKNSEEQYNKIVIPNEESVVIYYKIRQQLAKLGKEIEEYIHKPK
YCLPFLQPGRLVKVKNEGDDFGWGVVVNFSKKSNVKPNSGELDPLYVVEVLLRCSKESLKNSATEAAKPAKPDEKGEMQVVPVLVHLLSA
ISSVRLYIPKDLRPVDNRQSVLKSIQEVQKRFPDGIPLLDPIDDMGIQDQGLKKVIQKVEAFEHRMYSHPLHNDPNLETVYTLCEKKAQI
AIDIKSAKRELKKARTVLQMDELKCRKRVLRRLGFATSSDVIEMKGRVACEISSADELLLTEMMFNGLFNDLSAEQATALLSCFVFQENS
SEMPKLTEQLAGPLRQMQECAKRIAKVSAEAKLEIDEETYLSSFKPHLMDVVYTWATGATFAHICKMTDVFEGSIIRCMRRLEELLRQMC

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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/chr5:55251853/chr5:54639159)
- 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
IL6ST

P40189

.
FUNCTION: Signal-transducing molecule (PubMed:2261637). The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activate the intracellular JAK-MAPK and JAK-STAT3 signaling pathways (PubMed:2261637, PubMed:19915009, PubMed:23294003). That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3 (PubMed:19915009, PubMed:23294003, PubMed:25731159). In parallel, the IL6 signaling pathway induces the expression of two cytokine receptor signaling inhibitors, SOCS1 and SOCS3, which inhibit JAK and terminate the activity of the IL6 signaling pathway as a negative feedback loop (By similarity). Also activates the yes-associated protein 1 (YAP) and NOTCH pathways to control inflammation-induced epithelial regeneration, independently of STAT3 (By similarity). Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Essential for survival of motor and sensory neurons and for differentiation of astrocytes (By similarity). Required for expression of TRPA1 in nociceptive neurons (By similarity). Required for the maintenance of PTH1R expression in the osteoblast lineage and for the stimulation of PTH-induced osteoblast differentiation (By similarity). Required for normal trabecular bone mass and cortical bone composition (By similarity). {ECO:0000250|UniProtKB:Q00560, ECO:0000269|PubMed:19915009, ECO:0000269|PubMed:2261637, ECO:0000269|PubMed:23294003, ECO:0000269|PubMed:25731159, ECO:0000269|PubMed:28747427, ECO:0000269|PubMed:30309848}.; FUNCTION: [Isoform 2]: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response (PubMed:11121117, PubMed:21990364, PubMed:30279168). Also blocks IL11 cluster signaling through IL11R (PubMed:30279168). {ECO:0000269|PubMed:11121117, ECO:0000269|PubMed:21990364, ECO:0000269|PubMed:30279168}.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
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813725_755394.6666666666667299.3333333333333Compositional biasNote=Ser-rich
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815125_216422.3333333333333919.0DomainFibronectin type-III 1
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815224_324422.3333333333333919.0DomainFibronectin type-III 2
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-81526_120422.3333333333333919.0DomainNote=Ig-like C2-type
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815329_424422.3333333333333919.0DomainFibronectin type-III 3
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714125_216394.66666666666672415.0DomainFibronectin type-III 1
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714224_324394.66666666666672415.0DomainFibronectin type-III 2
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-71426_120394.66666666666672415.0DomainNote=Ig-like C2-type
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814125_216422.3333333333333858.0DomainFibronectin type-III 1
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814224_324422.3333333333333858.0DomainFibronectin type-III 2
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-81426_120422.3333333333333858.0DomainNote=Ig-like C2-type
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814329_424422.3333333333333858.0DomainFibronectin type-III 3
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017125_216422.3333333333333919.0DomainFibronectin type-III 1
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017224_324422.3333333333333919.0DomainFibronectin type-III 2
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-101726_120422.3333333333333919.0DomainNote=Ig-like C2-type
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017329_424422.3333333333333919.0DomainFibronectin type-III 3
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916125_216422.3333333333333919.0DomainFibronectin type-III 1
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916224_324422.3333333333333919.0DomainFibronectin type-III 2
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-91626_120422.3333333333333919.0DomainNote=Ig-like C2-type
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916329_424422.3333333333333919.0DomainFibronectin type-III 3
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813125_216394.6666666666667299.3333333333333DomainFibronectin type-III 1
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813224_324394.6666666666667299.3333333333333DomainFibronectin type-III 2
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-81326_120394.6666666666667299.3333333333333DomainNote=Ig-like C2-type
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813329_424394.6666666666667299.3333333333333DomainFibronectin type-III 3
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813426_517394.6666666666667299.3333333333333DomainFibronectin type-III 4
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813518_613394.6666666666667299.3333333333333DomainFibronectin type-III 5
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713125_216394.6666666666667441.3333333333333DomainFibronectin type-III 1
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713224_324394.6666666666667441.3333333333333DomainFibronectin type-III 2
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-71326_120394.6666666666667441.3333333333333DomainNote=Ig-like C2-type
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815310_314422.3333333333333919.0MotifNote=WSXWS motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714310_314394.66666666666672415.0MotifNote=WSXWS motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814310_314422.3333333333333858.0MotifNote=WSXWS motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017310_314422.3333333333333919.0MotifNote=WSXWS motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916310_314422.3333333333333919.0MotifNote=WSXWS motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813310_314394.6666666666667299.3333333333333MotifNote=WSXWS motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813651_659394.6666666666667299.3333333333333MotifNote=Box 1 motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713310_314394.6666666666667441.3333333333333MotifNote=WSXWS motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-81323_619394.6666666666667299.3333333333333Topological domainExtracellular
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813642_918394.6666666666667299.3333333333333Topological domainCytoplasmic
HgeneIL6STchr5:55251853chr5:54639159ENST00000522633-813620_641394.6666666666667299.3333333333333TransmembraneHelical
TgeneSKIV2L2chr5:55251853chr5:54639159ENST00000230640627405_577260.33333333333331043.0DomainHelicase C-terminal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815725_755422.3333333333333919.0Compositional biasNote=Ser-rich
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714725_755394.66666666666672415.0Compositional biasNote=Ser-rich
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814725_755422.3333333333333858.0Compositional biasNote=Ser-rich
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017725_755422.3333333333333919.0Compositional biasNote=Ser-rich
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916725_755422.3333333333333919.0Compositional biasNote=Ser-rich
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713725_755394.6666666666667441.3333333333333Compositional biasNote=Ser-rich
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815426_517422.3333333333333919.0DomainFibronectin type-III 4
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815518_613422.3333333333333919.0DomainFibronectin type-III 5
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714329_424394.66666666666672415.0DomainFibronectin type-III 3
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714426_517394.66666666666672415.0DomainFibronectin type-III 4
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714518_613394.66666666666672415.0DomainFibronectin type-III 5
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814426_517422.3333333333333858.0DomainFibronectin type-III 4
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814518_613422.3333333333333858.0DomainFibronectin type-III 5
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017426_517422.3333333333333919.0DomainFibronectin type-III 4
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017518_613422.3333333333333919.0DomainFibronectin type-III 5
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916426_517422.3333333333333919.0DomainFibronectin type-III 4
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916518_613422.3333333333333919.0DomainFibronectin type-III 5
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713329_424394.6666666666667441.3333333333333DomainFibronectin type-III 3
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713426_517394.6666666666667441.3333333333333DomainFibronectin type-III 4
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713518_613394.6666666666667441.3333333333333DomainFibronectin type-III 5
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815651_659422.3333333333333919.0MotifNote=Box 1 motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714651_659394.66666666666672415.0MotifNote=Box 1 motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814651_659422.3333333333333858.0MotifNote=Box 1 motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017651_659422.3333333333333919.0MotifNote=Box 1 motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916651_659422.3333333333333919.0MotifNote=Box 1 motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713651_659394.6666666666667441.3333333333333MotifNote=Box 1 motif
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-81523_619422.3333333333333919.0Topological domainExtracellular
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815642_918422.3333333333333919.0Topological domainCytoplasmic
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-71423_619394.66666666666672415.0Topological domainExtracellular
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714642_918394.66666666666672415.0Topological domainCytoplasmic
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-81423_619422.3333333333333858.0Topological domainExtracellular
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814642_918422.3333333333333858.0Topological domainCytoplasmic
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-101723_619422.3333333333333919.0Topological domainExtracellular
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017642_918422.3333333333333919.0Topological domainCytoplasmic
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-91623_619422.3333333333333919.0Topological domainExtracellular
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916642_918422.3333333333333919.0Topological domainCytoplasmic
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-71323_619394.6666666666667441.3333333333333Topological domainExtracellular
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713642_918394.6666666666667441.3333333333333Topological domainCytoplasmic
HgeneIL6STchr5:55251853chr5:54639159ENST00000336909-815620_641422.3333333333333919.0TransmembraneHelical
HgeneIL6STchr5:55251853chr5:54639159ENST00000381287-714620_641394.66666666666672415.0TransmembraneHelical
HgeneIL6STchr5:55251853chr5:54639159ENST00000381294-814620_641422.3333333333333858.0TransmembraneHelical
HgeneIL6STchr5:55251853chr5:54639159ENST00000381298-1017620_641422.3333333333333919.0TransmembraneHelical
HgeneIL6STchr5:55251853chr5:54639159ENST00000502326-916620_641422.3333333333333919.0TransmembraneHelical
HgeneIL6STchr5:55251853chr5:54639159ENST00000536319-713620_641394.6666666666667441.3333333333333TransmembraneHelical
TgeneSKIV2L2chr5:55251853chr5:54639159ENST00000230640627148_304260.33333333333331043.0DomainHelicase ATP-binding
TgeneSKIV2L2chr5:55251853chr5:54639159ENST00000230640627252_255260.33333333333331043.0MotifNote=DEIH box
TgeneSKIV2L2chr5:55251853chr5:54639159ENST00000230640627161_168260.33333333333331043.0Nucleotide bindingATP


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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
IL6ST
SKIV2L2


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 IL6ST-SKIV2L2


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 IL6ST-SKIV2L2


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