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Fusion gene ID: 42035 |
FusionGeneSummary for WNK1_DNAJC3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: WNK1_DNAJC3 | Fusion gene ID: 42035 | Hgene | Tgene | Gene symbol | WNK1 | DNAJC3 | Gene ID | 65125 | 5611 |
| Gene name | WNK lysine deficient protein kinase 1 | DnaJ heat shock protein family (Hsp40) member C3 | |
| Synonyms | HSAN2|HSN2|KDP|PPP1R167|PRKWNK1|PSK|p65 | ACPHD|ERdj6|HP58|P58|P58IPK|PRKRI | |
| Cytomap | 12p13.33 | 13q32.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase WNK1WNK lysine deficient protein kinase 1 isoformerythrocyte 65 kDa proteinprostate-derived sterile 20-like kinaseprotein kinase with no lysine 1protein phosphatase 1, regulatory subunit 167serine/threonine-protein ki | dnaJ homolog subfamily C member 3DnaJ (Hsp40) homolog, subfamily C, member 3ER-resident protein ERdj6endoplasmic reticulum DNA J domain-containing protein 6interferon-induced, double-stranded RNA-activated protein kinase inhibitorprotein kinase inhib | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9H4A3 | Q13217 | |
| Ensembl transtripts involved in fusion gene | ENST00000535572, ENST00000537687, ENST00000315939, ENST00000447667, ENST00000530271, ENST00000540360, ENST00000340908, ENST00000574564, | ENST00000602402, ENST00000376795, | |
| Fusion gene scores | * DoF score | 15 X 10 X 10=1500 | 5 X 6 X 2=60 |
| # samples | 19 | 6 | |
| ** MAII score | log2(19/1500*10)=-2.9808911770523 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/60*10)=0 | |
| Context | PubMed: WNK1 [Title/Abstract] AND DNAJC3 [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 | WNK1 | GO:0006468 | protein phosphorylation | 10660600 |
| Hgene | WNK1 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
| Hgene | WNK1 | GO:0023016 | signal transduction by trans-phosphorylation | 16669787 |
| Hgene | WNK1 | GO:0035556 | intracellular signal transduction | 10660600 |
| 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 | DA727905 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| * 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 | ENST00000535572 | ENST00000602402 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| Frame-shift | ENST00000535572 | ENST00000376795 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| Frame-shift | ENST00000537687 | ENST00000602402 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| Frame-shift | ENST00000537687 | ENST00000376795 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| Frame-shift | ENST00000315939 | ENST00000602402 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| Frame-shift | ENST00000315939 | ENST00000376795 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| intron-3CDS | ENST00000447667 | ENST00000602402 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| intron-3CDS | ENST00000447667 | ENST00000376795 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| Frame-shift | ENST00000530271 | ENST00000602402 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| Frame-shift | ENST00000530271 | ENST00000376795 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| intron-3CDS | ENST00000540360 | ENST00000602402 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| intron-3CDS | ENST00000540360 | ENST00000376795 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| Frame-shift | ENST00000340908 | ENST00000602402 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| Frame-shift | ENST00000340908 | ENST00000376795 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| intron-3CDS | ENST00000574564 | ENST00000602402 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
| intron-3CDS | ENST00000574564 | ENST00000376795 | WNK1 | chr12 | 994550 | + | DNAJC3 | chr13 | 96361511 | + |
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FusionProtFeatures for WNK1_DNAJC3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| WNK1 | DNAJC3 |
| Involved in the unfolded protein response (UPR) duringendoplasmic reticulum (ER) stress. Acts as a negative regulator ofthe EIF2AK4/GCN2 kinase activity by preventing the phosphorylationof eIF-2-alpha at 'Ser-52' and hence attenuating general proteinsynthesis under ER stress, hypothermic and amino acid starvingstress conditions (By similarity). Co-chaperone of HSPA8/HSC70, itstimulates its ATPase activity. May inhibit both theautophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 tocatalyze phosphorylation of the EIF2A. May inhibit EIF2AK3/PERKactivity. {ECO:0000250|UniProtKB:Q27968,ECO:0000250|UniProtKB:Q91YW3, ECO:0000269|PubMed:12601012,ECO:0000269|PubMed:8576172, ECO:0000269|PubMed:9447982,ECO:0000269|PubMed:9920933}. |
| 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 WNK1_DNAJC3 |
| 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 WNK1_DNAJC3 |
| 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 WNK1_DNAJC3 |
| 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 WNK1_DNAJC3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | WNK1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | WNK1 | C0022658 | Kidney Diseases | 1 | CTD_human |
| Hgene | WNK1 | C0033805 | Pseudohypoaldosteronism | 1 | CTD_human |
| Tgene | DNAJC3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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