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Fusion gene ID: 32682 |
FusionGeneSummary for SATB2_PIK3C2B |
Fusion gene summary |
Fusion gene information | Fusion gene name: SATB2_PIK3C2B | Fusion gene ID: 32682 | Hgene | Tgene | Gene symbol | SATB2 | PIK3C2B | Gene ID | 23314 | 5287 |
Gene name | SATB homeobox 2 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta | |
Synonyms | GLSS | C2-PI3K | |
Cytomap | 2q33.1 | 1q32.1 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA-binding protein SATB2SATB family member 2special AT-rich sequence-binding protein 2 | phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit betaPI3K-C2-betaPI3K-C2betaPTDINS-3-kinase C2 betaphosphatidylinositol 3-kinase C2 domain-containing beta polypeptidephosphoinositide 3-kinase-C2-betaphosphoinositide-3-kinase, c | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9UPW6 | O00750 | |
Ensembl transtripts involved in fusion gene | ENST00000417098, ENST00000443023, ENST00000260926, ENST00000428695, ENST00000457245, ENST00000484124, | ENST00000367187, ENST00000424712, ENST00000496872, | |
Fusion gene scores | * DoF score | 2 X 3 X 1=6 | 2 X 2 X 2=8 |
# samples | 3 | 2 | |
** MAII score | log2(3/6*10)=2.32192809488736 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: SATB2 [Title/Abstract] AND PIK3C2B [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 | BF363056 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
* 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-3UTR | ENST00000417098 | ENST00000367187 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-3UTR | ENST00000417098 | ENST00000424712 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-intron | ENST00000417098 | ENST00000496872 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-3UTR | ENST00000443023 | ENST00000367187 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-3UTR | ENST00000443023 | ENST00000424712 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-intron | ENST00000443023 | ENST00000496872 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-3UTR | ENST00000260926 | ENST00000367187 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-3UTR | ENST00000260926 | ENST00000424712 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-intron | ENST00000260926 | ENST00000496872 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-3UTR | ENST00000428695 | ENST00000367187 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-3UTR | ENST00000428695 | ENST00000424712 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-intron | ENST00000428695 | ENST00000496872 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-3UTR | ENST00000457245 | ENST00000367187 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-3UTR | ENST00000457245 | ENST00000424712 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
5CDS-intron | ENST00000457245 | ENST00000496872 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
intron-3UTR | ENST00000484124 | ENST00000367187 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
intron-3UTR | ENST00000484124 | ENST00000424712 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
intron-intron | ENST00000484124 | ENST00000496872 | SATB2 | chr2 | 200173481 | - | PIK3C2B | chr1 | 204393859 | - |
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FusionProtFeatures for SATB2_PIK3C2B |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SATB2 | PIK3C2B |
Binds to DNA, at nuclear matrix- or scaffold-associatedregions. Thought to recognize the sugar-phosphate structure ofdouble-stranded DNA. Transcription factor controlling nuclear geneexpression, by binding to matrix attachment regions (MARs) of DNAand inducing a local chromatin-loop remodeling. Acts as a dockingsite for several chromatin remodeling enzymes and also byrecruiting corepressors (HDACs) or coactivators (HATs) directly topromoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for theinactivation of deep-layer neurons (DL) and UL2 specific genes,probably by modulating BCL11B expression. Repressor of Ctip2 andregulatory determinant of corticocortical connections in thedeveloping cerebral cortex. May play an important role in palateformation. Acts as a molecular node in a transcriptional networkregulating skeletal development and osteoblast differentiation.{ECO:0000269|PubMed:14701874}. | Phosphorylates PtdIns and PtdIns4P with a preference forPtdIns. Does not phosphorylate PtdIns(4,5)P2. May be involved inEGF and PDGF signaling cascades. {ECO:0000269|PubMed:10805725}. |
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 SATB2_PIK3C2B |
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 SATB2_PIK3C2B |
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 SATB2_PIK3C2B |
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 SATB2_PIK3C2B |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SATB2 | C0008925 | Cleft Palate | 2 | CTD_human;HPO |
Hgene | SATB2 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | SATB2 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
Hgene | SATB2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | PIK3C2B | C0027627 | Neoplasm Metastasis | 1 | CTD_human |