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Fusion gene ID: 42728 |
FusionGeneSummary for ZEB1_SIK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZEB1_SIK1 | Fusion gene ID: 42728 | Hgene | Tgene | Gene symbol | ZEB1 | SIK1 | Gene ID | 6935 | 150094 |
| Gene name | zinc finger E-box binding homeobox 1 | salt inducible kinase 1 | |
| Synonyms | AREB6|BZP|DELTAEF1|FECD6|NIL2A|PPCD3|TCF8|ZFHEP|ZFHX1A | MSK|SIK|SIK-1|SNF1LK | |
| Cytomap | 10p11.22 | 21q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger E-box-binding homeobox 1delta-crystallin enhancer binding factor 1negative regulator of IL2posterior polymorphous corneal dystrophy 3transcription factor 8 (represses interleukin 2 expression)zinc finger homeodomain enhancer-binding prote | serine/threonine-protein kinase SIK1SNF1-like kinasemyocardial SNF1-like kinasesalt-inducible protein kinase 1serine/threonine-protein kinase SNF1-like kinase 1serine/threonine-protein kinase SNF1LK | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P37275 | P57059 | |
| Ensembl transtripts involved in fusion gene | ENST00000320985, ENST00000361642, ENST00000559858, ENST00000560721, ENST00000542815, ENST00000446923, | ENST00000270162, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 2 X 2 X 1=4 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/60*10)=0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: ZEB1 [Title/Abstract] AND SIK1 [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 | ZEB1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 23765923|23814079 |
| Hgene | ZEB1 | GO:0045892 | negative regulation of transcription, DNA-templated | 20418909 |
| Tgene | SIK1 | GO:0006468 | protein phosphorylation | 14976552 |
| Tgene | SIK1 | GO:0035556 | intracellular signal transduction | 14976552 |
| Tgene | SIK1 | GO:0046777 | protein autophosphorylation | 18348280 |
| 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 | D15050 | ZEB1 | chr10 | 31816308 | + | SIK1 | chr21 | 44836230 | - |
| * 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 |
| 3UTR-3UTR | ENST00000320985 | ENST00000270162 | ZEB1 | chr10 | 31816308 | + | SIK1 | chr21 | 44836230 | - |
| 3UTR-3UTR | ENST00000361642 | ENST00000270162 | ZEB1 | chr10 | 31816308 | + | SIK1 | chr21 | 44836230 | - |
| intron-3UTR | ENST00000559858 | ENST00000270162 | ZEB1 | chr10 | 31816308 | + | SIK1 | chr21 | 44836230 | - |
| intron-3UTR | ENST00000560721 | ENST00000270162 | ZEB1 | chr10 | 31816308 | + | SIK1 | chr21 | 44836230 | - |
| intron-3UTR | ENST00000542815 | ENST00000270162 | ZEB1 | chr10 | 31816308 | + | SIK1 | chr21 | 44836230 | - |
| 3UTR-3UTR | ENST00000446923 | ENST00000270162 | ZEB1 | chr10 | 31816308 | + | SIK1 | chr21 | 44836230 | - |
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FusionProtFeatures for ZEB1_SIK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZEB1 | SIK1 |
| Serine/threonine-protein kinase involved in variousprocesses such as cell cycle regulation, gluconeogenesis andlipogenesis regulation, muscle growth and differentiation andtumor suppression. Phosphorylates HDAC4, HDAC5, PPME1, SREBF1,CRTC1/TORC1 and CRTC2/TORC2. Acts as a tumor suppressor and playsa key role in p53/TP53-dependent anoikis, a type of apoptosistriggered by cell detachment: required for phosphorylation ofp53/TP53 in response to loss of adhesion and is able to suppressmetastasis. Part of a sodium-sensing signaling network, probablyby mediating phosphorylation of PPME1: following increases inintracellular sodium, SIK1 is activated by CaMK1 andphosphorylates PPME1 subunit of protein phosphatase 2A (PP2A),leading to dephosphorylation of sodium/potassium-transportingATPase ATP1A1 and subsequent increase activity of ATP1A1. Acts asa regulator of muscle cells by phosphorylating and inhibitingclass II histone deacetylases HDAC4 and HDAC5, leading to promoteexpression of MEF2 target genes in myocytes. Also required duringcardiomyogenesis by regulating the exit of cardiomyoblasts fromthe cell cycle via down-regulation of CDKN1C/p57Kip2. Acts as aregulator of hepatic gluconeogenesis by phosphorylating andrepressing the CREB-specific coactivators CRTC1/TORC1 andCRTC2/TORC2, leading to inhibit CREB activity. Also regulateshepatic lipogenesis by phosphorylating and inhibiting SREBF1. Inconcert with CRTC1/TORC1, regulates the light-induced entrainmentof the circadian clock by attenuating PER1 induction; repressesCREB-mediated transcription of PER1 by phosphorylating anddeactivating CRTC1/TORC1 (By similarity).{ECO:0000250|UniProtKB:Q60670, ECO:0000269|PubMed:14976552,ECO:0000269|PubMed:16306228, ECO:0000269|PubMed:18348280,ECO:0000269|PubMed:19622832}. |
| 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 ZEB1_SIK1 |
| 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 ZEB1_SIK1 |
| 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 ZEB1_SIK1 |
| 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 |
| Tgene | SIK1 | P57059 | DB08912 | Dabrafenib | Serine/threonine-protein kinase SIK1 | small molecule | approved|investigational |
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RelatedDiseases for ZEB1_SIK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ZEB1 | C2750448 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 | 3 | CTD_human;UNIPROT |
| Hgene | ZEB1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | ZEB1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | ZEB1 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Hgene | ZEB1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | ZEB1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
| Hgene | ZEB1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
| Hgene | ZEB1 | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| Hgene | ZEB1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | ZEB1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | SIK1 | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
| Tgene | SIK1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | SIK1 | C4225360 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 | 1 | UNIPROT |
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