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Fusion gene ID: 27081 |
FusionGeneSummary for PIAS2_SKOR2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PIAS2_SKOR2 | Fusion gene ID: 27081 | Hgene | Tgene | Gene symbol | PIAS2 | SKOR2 | Gene ID | 9063 | 652991 |
Gene name | protein inhibitor of activated STAT 2 | SKI family transcriptional corepressor 2 | |
Synonyms | ARIP3|DIP|MIZ1|PIASX|SIZ2|ZMIZ4 | CH18515|CORL2|FUSSEL18 | |
Cytomap | 18q21.1 | 18q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | E3 SUMO-protein ligase PIAS2DAB2-interacting proteinE3 SUMO-protein transferase PIAS2androgen receptor-interacting protein 3msx-interacting zinc finger proteinprotein inhibitor of activated STAT Xzinc finger, MIZ-type containing 4 | SKI family transcriptional corepressor 2LBX1 corepressor 1-like proteinfunctional Smad-suppressing element on chromosome 18functional smad suppressing element 18fussel-18ladybird homeobox corepressor 1-like protein | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | O75928 | Q2VWA4 | |
Ensembl transtripts involved in fusion gene | ENST00000585916, ENST00000545673, ENST00000324794, ENST00000590944, | ENST00000425639, ENST00000400404, | |
Fusion gene scores | * DoF score | 4 X 5 X 4=80 | 2 X 2 X 2=8 |
# samples | 5 | 2 | |
** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: PIAS2 [Title/Abstract] AND SKOR2 [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 |
Hgene | PIAS2 | GO:0016925 | protein sumoylation | 22406621 |
Hgene | PIAS2 | GO:0060766 | negative regulation of androgen receptor signaling pathway | 11477070 |
Tgene | SKOR2 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 16200078 |
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 |
TCGA | LD | SKCM | TCGA-ER-A19O-06A | PIAS2 | chr18 | 44497285 | - | SKOR2 | chr18 | 44738522 | - |
* 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 |
5CDS-intron | ENST00000585916 | ENST00000425639 | PIAS2 | chr18 | 44497285 | - | SKOR2 | chr18 | 44738522 | - |
5CDS-intron | ENST00000585916 | ENST00000400404 | PIAS2 | chr18 | 44497285 | - | SKOR2 | chr18 | 44738522 | - |
5UTR-intron | ENST00000545673 | ENST00000425639 | PIAS2 | chr18 | 44497285 | - | SKOR2 | chr18 | 44738522 | - |
5UTR-intron | ENST00000545673 | ENST00000400404 | PIAS2 | chr18 | 44497285 | - | SKOR2 | chr18 | 44738522 | - |
5CDS-intron | ENST00000324794 | ENST00000425639 | PIAS2 | chr18 | 44497285 | - | SKOR2 | chr18 | 44738522 | - |
5CDS-intron | ENST00000324794 | ENST00000400404 | PIAS2 | chr18 | 44497285 | - | SKOR2 | chr18 | 44738522 | - |
intron-intron | ENST00000590944 | ENST00000425639 | PIAS2 | chr18 | 44497285 | - | SKOR2 | chr18 | 44738522 | - |
intron-intron | ENST00000590944 | ENST00000400404 | PIAS2 | chr18 | 44497285 | - | SKOR2 | chr18 | 44738522 | - |
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FusionProtFeatures for PIAS2_SKOR2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PIAS2 | SKOR2 |
Functions as an E3-type small ubiquitin-like modifier(SUMO) ligase, stabilizing the interaction between UBE2I and thesubstrate, and as a SUMO-tethering factor. Plays a crucial role asa transcriptional coregulator in various cellular pathways,including the STAT pathway, the p53 pathway and the steroidhormone signaling pathway. The effects of this transcriptionalcoregulation, transactivation or silencing may vary depending uponthe biological context and the PIAS2 isoform studied. However, itseems to be mostly involved in gene silencing. Binds to sumoylatedELK1 and enhances its transcriptional activity by preventingrecruitment of HDAC2 by ELK1, thus reversing SUMO-mediatedrepression of ELK1 transactivation activity. Isoform PIAS2-beta,but not isoform PIAS2-alpha, promotes MDM2 sumoylation. IsoformPIAS2-alpha promotes PARK7 sumoylation. Isoform PIAS2-betapromotes NCOA2 sumoylation more efficiently than isoform PIAS2-alpha. Isoform PIAS2-alpha sumoylates PML at'Lys-65' and 'Lys-160'. {ECO:0000269|PubMed:15920481, ECO:0000269|PubMed:15976810,ECO:0000269|PubMed:22406621}. | Exhibits transcriptional repressor activity (Bysimilarity). Acts as a TGF-beta antagonist in the nervous system.{ECO:0000250, ECO:0000269|PubMed:16200078}. |
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 PIAS2_SKOR2 |
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 PIAS2_SKOR2 |
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 |
PIAS2 | AR, NAV2, UBE2I, DNMT3A, SUMO1, STAT4, ESR1, ESR2, NR3C1, PGR, GTF2IRD1, PARK7, SIAH1, SIAH2, AKT1, GLUL, SREBF2, MITF, MBD1, TRIM27, TP53, JUN, MYC, HIC1, HUWE1, MAPK8, TRAF2, PML, IFIH1, CLDN2, FLI1, SUMO2, CDKN2A, CHMP4B, SMAD3, SMAD4, MSX2, PLAG1, PLAGL1, PAXIP1, RUFY1, ADA, C1QA, PIAS4, TICAM2, SUMO3, CTBP1, GTF2I, PRKAB2, TRIM63, TRIM55, MAPKAPK2, TRIM23, PHC1, GFAP, GOLGA2, MX2, PIAS2, ZBED1, CCNDBP1, CCHCR1, TSR2, ACY3, SUMO1P1, ZBTB8A, ARNT, ZNF451, CDCA8, LMNB1, CDKN2B, PIAS1, LMNA | SKOR2 |
- 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 PIAS2_SKOR2 |
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 PIAS2_SKOR2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |