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Fusion gene ID: 42051 |
FusionGeneSummary for WNK2_SECISBP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: WNK2_SECISBP2 | Fusion gene ID: 42051 | Hgene | Tgene | Gene symbol | WNK2 | SECISBP2 | Gene ID | 65268 | 79048 |
| Gene name | WNK lysine deficient protein kinase 2 | SECIS binding protein 2 | |
| Synonyms | NY-CO-43|P/OKcl.13|PRKWNK2|SDCCAG43 | SBP2 | |
| Cytomap | 9q22.31 | 9q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase WNK2antigen NY-CO-43mitogen-activated protein kinase kinase kinaseprotein kinase lysine-deficient 2protein kinase with no lysine 2serologically defined colon cancer antigen 43 | selenocysteine insertion sequence-binding protein 2Sec insertion sequence-binding protein 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y3S1 | Q96T21 | |
| Ensembl transtripts involved in fusion gene | ENST00000427277, ENST00000297954, ENST00000395475, ENST00000356055, ENST00000349097, ENST00000395477, ENST00000471076, | ENST00000375807, ENST00000339901, ENST00000534113, ENST00000470305, | |
| Fusion gene scores | * DoF score | 6 X 7 X 8=336 | 4 X 4 X 2=32 |
| # samples | 9 | 6 | |
| ** MAII score | log2(9/336*10)=-1.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/32*10)=0.906890595608518 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: WNK2 [Title/Abstract] AND SECISBP2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | WNK2 | GO:0006468 | protein phosphorylation | 21733846 |
| Hgene | WNK2 | GO:0046777 | protein autophosphorylation | 17667937 |
| 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 | RV | LUSC | TCGA-22-5483-01A | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| * 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 |
| Frame-shift | ENST00000427277 | ENST00000375807 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000427277 | ENST00000339901 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000427277 | ENST00000534113 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 5CDS-intron | ENST00000427277 | ENST00000470305 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000297954 | ENST00000375807 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000297954 | ENST00000339901 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000297954 | ENST00000534113 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 5CDS-intron | ENST00000297954 | ENST00000470305 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 3UTR-3CDS | ENST00000395475 | ENST00000375807 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 3UTR-3CDS | ENST00000395475 | ENST00000339901 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 3UTR-3CDS | ENST00000395475 | ENST00000534113 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 3UTR-intron | ENST00000395475 | ENST00000470305 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 5UTR-3CDS | ENST00000356055 | ENST00000375807 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 5UTR-3CDS | ENST00000356055 | ENST00000339901 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 5UTR-3CDS | ENST00000356055 | ENST00000534113 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 5UTR-intron | ENST00000356055 | ENST00000470305 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000349097 | ENST00000375807 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000349097 | ENST00000339901 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000349097 | ENST00000534113 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 5CDS-intron | ENST00000349097 | ENST00000470305 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000395477 | ENST00000375807 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000395477 | ENST00000339901 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| Frame-shift | ENST00000395477 | ENST00000534113 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| 5CDS-intron | ENST00000395477 | ENST00000470305 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| intron-3CDS | ENST00000471076 | ENST00000375807 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| intron-3CDS | ENST00000471076 | ENST00000339901 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| intron-3CDS | ENST00000471076 | ENST00000534113 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
| intron-intron | ENST00000471076 | ENST00000470305 | WNK2 | chr9 | 96026315 | + | SECISBP2 | chr9 | 91972326 | + |
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FusionProtFeatures for WNK2_SECISBP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| WNK2 | SECISBP2 |
| Serine/threonine kinase which plays an important role inthe regulation of electrolyte homeostasis, cell signaling,survival, and proliferation. Acts as an activator and inhibitor ofsodium-coupled chloride cotransporters and potassium-coupledchloride cotransporters respectively. Activates SLC12A2, SCNN1A,SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5. Negatively regulatesthe EGF-induced activation of the ERK/MAPK-pathway and thedownstream cell cycle progression. Affects MAPK3/MAPK1 activity bymodulating the activity of MAP2K1 and this modulation depends onphosphorylation of MAP2K1 by PAK1. WNK2 acts by interfering withthe activity of PAK1 by controlling the balance of the activity ofupstream regulators of PAK1 activity, RHOA and RAC1, which displayreciprocal activity. {ECO:0000269|PubMed:17667937,ECO:0000269|PubMed:18593598, ECO:0000269|PubMed:21733846}. | Binds to the SECIS element in the 3'-UTR of some mRNAsencoding selenoproteins. Binding is stimulated by SELB. |
| 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 WNK2_SECISBP2 |
| 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 WNK2_SECISBP2 |
| 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 |
| WNK2 | YWHAZ, WNK1, SGK1, ATXN1, KLHL3, KLHL2, DGCR14, TSC22D4, PSMC3, SPATA1, TRIM25 | SECISBP2 | ATXN7L3, APP, SMAD9, GOLGA2, PCM1, SPICE1, TRIM25 |
| - 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 WNK2_SECISBP2 |
| 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 WNK2_SECISBP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SECISBP2 | C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
| Tgene | SECISBP2 | C0018273 | Growth Disorders | 1 | CTD_human |
| Tgene | SECISBP2 | C1864761 | Thyroid Hormone Metabolism, Abnormal | 1 | CTD_human;ORPHANET;UNIPROT |
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