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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17996

FusionGeneSummary for IWS1_SREK1

check button Fusion gene summary
Fusion gene informationFusion gene name: IWS1_SREK1
Fusion gene ID: 17996
HgeneTgene
Gene symbol

IWS1

SREK1

Gene ID

55677

140890

Gene nameIWS1, SUPT6H interacting proteinsplicing regulatory glutamic acid and lysine rich protein 1
Synonyms-SFRS12|SRrp508|SRrp86
Cytomap

2q14.3

5q12.3

Type of geneprotein-codingprotein-coding
Descriptionprotein IWS1 homologIWS1 homologIWS1-like proteininteracts with Spt6splicing regulatory glutamine/lysine-rich protein 1serine-arginine-rich splicing regulatory protein 508serine/arginine-rich-splicing regulatory protein 86splicing factor, arginine/serine-rich 12splicing regulatory glutamic acid/lysine-rich protein 1
Modification date2018052320180523
UniProtAcc

Q96ST2

Q8WXA9

Ensembl transtripts involved in fusion geneENST00000295321, ENST00000455721, 
ENST00000486662, 
ENST00000334121, 
ENST00000380918, ENST00000284041, 
Fusion gene scores* DoF score2 X 3 X 1=64 X 7 X 1=28
# samples 37
** MAII scorelog2(3/6*10)=2.32192809488736log2(7/28*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IWS1 [Title/Abstract] AND SREK1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BU600561IWS1chr2

128261046

-SREK1chr5

65466566

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000295321ENST00000334121IWS1chr2

128261046

-SREK1chr5

65466566

+
intron-3CDSENST00000295321ENST00000380918IWS1chr2

128261046

-SREK1chr5

65466566

+
intron-3UTRENST00000295321ENST00000284041IWS1chr2

128261046

-SREK1chr5

65466566

+
intron-3CDSENST00000455721ENST00000334121IWS1chr2

128261046

-SREK1chr5

65466566

+
intron-3CDSENST00000455721ENST00000380918IWS1chr2

128261046

-SREK1chr5

65466566

+
intron-3UTRENST00000455721ENST00000284041IWS1chr2

128261046

-SREK1chr5

65466566

+
intron-3CDSENST00000486662ENST00000334121IWS1chr2

128261046

-SREK1chr5

65466566

+
intron-3CDSENST00000486662ENST00000380918IWS1chr2

128261046

-SREK1chr5

65466566

+
intron-3UTRENST00000486662ENST00000284041IWS1chr2

128261046

-SREK1chr5

65466566

+

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FusionProtFeatures for IWS1_SREK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IWS1

Q96ST2

SREK1

Q8WXA9

Transcription factor which plays a key role in definingthe composition of the RNA polymerase II (RNAPII) elongationcomplex and in modulating the production of mature mRNAtranscripts. Acts as an assembly factor to recruit various factorsto the RNAPII elongation complex and is recruited to the complexvia binding to the transcription elongation factor SUPT6H bound tothe C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A).The SUPT6H:IWS1:CTD complex recruits mRNA export factors(ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (suchas SETD2) to ensure proper mRNA splicing, efficient mRNA exportand elongation-coupled H3K36 methylation, a signature chromatinmark of active transcription. {ECO:0000269|PubMed:17184735,ECO:0000269|PubMed:17234882, ECO:0000269|PubMed:19141475}. Participates in the regulation of alternative splicingby modulating the activity of other splice facors. Inhibits thesplicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicingactivity of SFRS3 (By similarity). {ECO:0000250}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for IWS1_SREK1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for IWS1_SREK1


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for IWS1_SREK1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for IWS1_SREK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource