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Fusion gene ID: 42054 |
FusionGeneSummary for WNK4_MT1G |
Fusion gene summary |
Fusion gene information | Fusion gene name: WNK4_MT1G | Fusion gene ID: 42054 | Hgene | Tgene | Gene symbol | WNK4 | MT1G | Gene ID | 65266 | 4495 |
Gene name | WNK lysine deficient protein kinase 4 | metallothionein 1G | |
Synonyms | PHA2B|PRKWNK4 | MT1|MT1K | |
Cytomap | 17q21.2 | 16q13 | |
Type of gene | protein-coding | protein-coding | |
Description | serine/threonine-protein kinase WNK4protein kinase lysine-deficient 4protein kinase with no lysine 4 | metallothionein-1GMT-1GMT-1KMT-IGmetallothionein-1Kmetallothionein-IG | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q96J92 | P13640 | |
Ensembl transtripts involved in fusion gene | ENST00000246914, ENST00000587705, | ENST00000444837, ENST00000569500, ENST00000379811, ENST00000568675, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 2=18 |
# samples | 1 | 4 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: WNK4 [Title/Abstract] AND MT1G [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 |
Tgene | MT1G | GO:0045926 | negative regulation of growth | 18332874 |
Tgene | MT1G | GO:0071294 | cellular response to zinc ion | 7559655 |
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 | H91370 | WNK4 | chr17 | 40939214 | - | MT1G | chr16 | 56701936 | - |
* 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-5UTR | ENST00000246914 | ENST00000444837 | WNK4 | chr17 | 40939214 | - | MT1G | chr16 | 56701936 | - |
intron-5UTR | ENST00000246914 | ENST00000569500 | WNK4 | chr17 | 40939214 | - | MT1G | chr16 | 56701936 | - |
intron-5UTR | ENST00000246914 | ENST00000379811 | WNK4 | chr17 | 40939214 | - | MT1G | chr16 | 56701936 | - |
intron-5UTR | ENST00000246914 | ENST00000568675 | WNK4 | chr17 | 40939214 | - | MT1G | chr16 | 56701936 | - |
intron-5UTR | ENST00000587705 | ENST00000444837 | WNK4 | chr17 | 40939214 | - | MT1G | chr16 | 56701936 | - |
intron-5UTR | ENST00000587705 | ENST00000569500 | WNK4 | chr17 | 40939214 | - | MT1G | chr16 | 56701936 | - |
intron-5UTR | ENST00000587705 | ENST00000379811 | WNK4 | chr17 | 40939214 | - | MT1G | chr16 | 56701936 | - |
intron-5UTR | ENST00000587705 | ENST00000568675 | WNK4 | chr17 | 40939214 | - | MT1G | chr16 | 56701936 | - |
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FusionProtFeatures for WNK4_MT1G |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
WNK4 | MT1G |
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 SCNN1A, SCNN1B,SCNN1D, SGK1, TRPV5 and TRPV6. Regulates the activity of thethiazide-sensitive Na-Cl cotransporter, SLC12A3, byphosphorylation which appears to prevent membrane trafficking ofSLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via akinase-independent mechanism by which it induces clearance of theprotein from the cell surface by clathrin-dependent endocytosis.WNK4 appears to act as a molecular switch that can vary thebalance between NaCl reabsorption and K(+) secretion to maintainintegrated homeostasis. Phosphorylates NEDD4L. Acts as a scaffoldto inhibit SLC4A4 as well as CFTR activities and surfaceexpression, recruits STK39 which mediates the inhibition (Bysimilarity). {ECO:0000250|UniProtKB:Q80UE6,ECO:0000269|PubMed:20525693}. | Metallothioneins have a high content of cysteineresidues that bind various heavy metals; these proteins aretranscriptionally regulated by both heavy metals andglucocorticoids. |
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 WNK4_MT1G |
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 WNK4_MT1G |
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 WNK4_MT1G |
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 WNK4_MT1G |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | WNK4 | C1840390 | Pseudohypoaldosteronism, Type IIb | 3 | ORPHANET;UNIPROT |
Hgene | WNK4 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | WNK4 | C0033805 | Pseudohypoaldosteronism | 1 | CTD_human |
Hgene | WNK4 | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | MT1G | C0014859 | Esophageal Neoplasms | 1 | CTD_human |