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Fusion gene ID: 17996 |
FusionGeneSummary for IWS1_SREK1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: IWS1_SREK1 | Fusion gene ID: 17996 | Hgene | Tgene | Gene symbol | IWS1 | SREK1 | Gene ID | 55677 | 140890 |
Gene name | IWS1, SUPT6H interacting protein | splicing regulatory glutamic acid and lysine rich protein 1 | |
Synonyms | - | SFRS12|SRrp508|SRrp86 | |
Cytomap | 2q14.3 | 5q12.3 | |
Type of gene | protein-coding | protein-coding | |
Description | protein IWS1 homologIWS1 homologIWS1-like proteininteracts with Spt6 | splicing 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 date | 20180523 | 20180523 | |
UniProtAcc | Q96ST2 | Q8WXA9 | |
Ensembl transtripts involved in fusion gene | ENST00000295321, ENST00000455721, ENST00000486662, | ENST00000334121, ENST00000380918, ENST00000284041, | |
Fusion gene scores | * DoF score | 2 X 3 X 1=6 | 4 X 7 X 1=28 |
# samples | 3 | 7 | |
** MAII score | log2(3/6*10)=2.32192809488736 | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BU600561 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000295321 | ENST00000334121 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
intron-3CDS | ENST00000295321 | ENST00000380918 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
intron-3UTR | ENST00000295321 | ENST00000284041 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
intron-3CDS | ENST00000455721 | ENST00000334121 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
intron-3CDS | ENST00000455721 | ENST00000380918 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
intron-3UTR | ENST00000455721 | ENST00000284041 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
intron-3CDS | ENST00000486662 | ENST00000334121 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
intron-3CDS | ENST00000486662 | ENST00000380918 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
intron-3UTR | ENST00000486662 | ENST00000284041 | IWS1 | chr2 | 128261046 | - | SREK1 | chr5 | 65466566 | + |
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FusionProtFeatures for IWS1_SREK1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
IWS1 | SREK1 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for IWS1_SREK1 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for IWS1_SREK1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for IWS1_SREK1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |