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Fusion gene ID: 42053 |
FusionGeneSummary for WNK3_FGD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: WNK3_FGD1 | Fusion gene ID: 42053 | Hgene | Tgene | Gene symbol | WNK3 | FGD1 | Gene ID | 65267 | 2245 |
| Gene name | WNK lysine deficient protein kinase 3 | FYVE, RhoGEF and PH domain containing 1 | |
| Synonyms | PRKWNK3 | AAS|FGDY|MRXS16|ZFYVE3 | |
| Cytomap | Xp11.22 | Xp11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase WNK3protein kinase with no lysine 3 | FYVE, RhoGEF and PH domain-containing protein 1faciogenital dysplasia 1 proteinrho/Rac GEFrho/Rac guanine nucleotide exchange factor FGD1zinc finger FYVE domain-containing protein 3 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9BYP7 | P98174 | |
| Ensembl transtripts involved in fusion gene | ENST00000375169, ENST00000354646, ENST00000375159, | ENST00000375135, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: WNK3 [Title/Abstract] AND FGD1 [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 | WNK3 | GO:0010765 | positive regulation of sodium ion transport | 16275913 |
| Hgene | WNK3 | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 16275913 |
| Hgene | WNK3 | GO:0032414 | positive regulation of ion transmembrane transporter activity | 16275913 |
| Hgene | WNK3 | GO:0046777 | protein autophosphorylation | 16275913 |
| Hgene | WNK3 | GO:1903078 | positive regulation of protein localization to plasma membrane | 16275913 |
| Hgene | WNK3 | GO:2000651 | positive regulation of sodium ion transmembrane transporter activity | 16275913 |
| Tgene | FGD1 | GO:0030036 | actin cytoskeleton organization | 8969170 |
| Tgene | FGD1 | GO:0043087 | regulation of GTPase activity | 8969170 |
| Tgene | FGD1 | GO:0046847 | filopodium assembly | 8969170 |
| 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 | UCEC | TCGA-E6-A8L9-01A | WNK3 | chrX | 54359570 | - | FGD1 | chrX | 54497920 | - |
| * 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 | ENST00000375169 | ENST00000375135 | WNK3 | chrX | 54359570 | - | FGD1 | chrX | 54497920 | - |
| Frame-shift | ENST00000354646 | ENST00000375135 | WNK3 | chrX | 54359570 | - | FGD1 | chrX | 54497920 | - |
| Frame-shift | ENST00000375159 | ENST00000375135 | WNK3 | chrX | 54359570 | - | FGD1 | chrX | 54497920 | - |
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FusionProtFeatures for WNK3_FGD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| WNK3 | FGD1 |
| 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 (PubMed:16275913,PubMed:16275911, PubMed:16357011). Phosphorylates WNK4. Regulatesthe phosphorylation of SLC12A1 and SLC12A2. Increases Ca(2+)influx mediated by TRPV5 and TRPV6 by enhancing their membraneexpression level via a kinase-dependent pathway (PubMed:18768590).Inhibits the activity of KCNJ1 by decreasing its expression at thecell membrane in a non-catalytic manner.{ECO:0000269|PubMed:16275911, ECO:0000269|PubMed:16275913,ECO:0000269|PubMed:16357011, ECO:0000269|PubMed:16501604,ECO:0000269|PubMed:17975670, ECO:0000269|PubMed:18768590,ECO:0000269|PubMed:20525693}. Isoform 1, isoform 2, isoform 3 and isoform 4 stimulatethe activity of SLC12A1, SLC12A2 and SLC12A3 and inhibit theactivity of SLC12A4, SLC12A5, SLC12A6 and SLC12A7. According toPubMed:19470686, isoform 1 inhibits the activity of SLC12A3.{ECO:0000269|PubMed:19470686, ECO:0000269|PubMed:21613606}. | Activates CDC42, a member of the Ras-like family ofRho- and Rac proteins, by exchanging bound GDP for free GTP. Playsa role in regulating the actin cytoskeleton and cell shape.{ECO:0000269|PubMed:8969170}. |
| 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 WNK3_FGD1 |
| 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 WNK3_FGD1 |
| 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 |
| WNK3 | KLHL3, KLHL2, NEDD4L, TSC22D4, TSC22D2 | FGD1 | CDC42, ELAVL1, BTRC, GGCX, STX3, TAP2, PITPNM1, SH3PXD2A, INTS7, MRPL18, FBXL19, ESYT2, MICALL2 |
| - 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 WNK3_FGD1 |
| 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 WNK3_FGD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | WNK3 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | FGD1 | C0175701 | Aarskog syndrome | 6 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FGD1 | C0018273 | Growth Disorders | 4 | CTD_human |
| Tgene | FGD1 | C0042063 | Urogenital Abnormalities | 3 | CTD_human |
| Tgene | FGD1 | C0016508 | Congenital Foot Deformity | 1 | CTD_human |
| Tgene | FGD1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | FGD1 | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
| Tgene | FGD1 | C1136249 | Mental Retardation, X-Linked | 1 | CTD_human |
| Tgene | FGD1 | C1263846 | Attention deficit hyperactivity disorder | 1 | CTD_human;HPO |
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