FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 42050

FusionGeneSummary for WNK2_RECQL

check button Fusion gene summary
Fusion gene informationFusion gene name: WNK2_RECQL
Fusion gene ID: 42050
HgeneTgene
Gene symbol

WNK2

RECQL

Gene ID

65268

5965

Gene nameWNK lysine deficient protein kinase 2RecQ like helicase
SynonymsNY-CO-43|P/OKcl.13|PRKWNK2|SDCCAG43RECQL1|RecQ1
Cytomap

9q22.31

12p12.1

Type of geneprotein-codingprotein-coding
Descriptionserine/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 43ATP-dependent DNA helicase Q1DNA helicase, RecQ-like type 1DNA-dependent ATPase Q1RecQ helicase-likeRecQ protein-like (DNA helicase Q1-like)recQ protein-like 1
Modification date2018052320180523
UniProtAcc

Q9Y3S1

P46063

Ensembl transtripts involved in fusion geneENST00000427277, ENST00000297954, 
ENST00000395475, ENST00000356055, 
ENST00000349097, ENST00000395477, 
ENST00000471076, 
ENST00000444129, 
ENST00000421138, 
Fusion gene scores* DoF score6 X 7 X 8=3361 X 1 X 1=1
# samples 91
** MAII scorelog2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: WNK2 [Title/Abstract] AND RECQL [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneWNK2

GO:0006468

protein phosphorylation

21733846

HgeneWNK2

GO:0046777

protein autophosphorylation

17667937

TgeneRECQL

GO:0000733

DNA strand renaturation

19177149


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBLCATCGA-E7-A7DV-01AWNK2chr9

95947892

+RECQLchr12

21623280

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000427277ENST00000444129WNK2chr9

95947892

+RECQLchr12

21623280

-
5UTR-3CDSENST00000427277ENST00000421138WNK2chr9

95947892

+RECQLchr12

21623280

-
Frame-shitENST00000297954ENST00000444129WNK2chr9

95947892

+RECQLchr12

21623280

-
Frame-shitENST00000297954ENST00000421138WNK2chr9

95947892

+RECQLchr12

21623280

-
Frame-shitENST00000395475ENST00000444129WNK2chr9

95947892

+RECQLchr12

21623280

-
Frame-shitENST00000395475ENST00000421138WNK2chr9

95947892

+RECQLchr12

21623280

-
5UTR-3CDSENST00000356055ENST00000444129WNK2chr9

95947892

+RECQLchr12

21623280

-
5UTR-3CDSENST00000356055ENST00000421138WNK2chr9

95947892

+RECQLchr12

21623280

-
5UTR-3CDSENST00000349097ENST00000444129WNK2chr9

95947892

+RECQLchr12

21623280

-
5UTR-3CDSENST00000349097ENST00000421138WNK2chr9

95947892

+RECQLchr12

21623280

-
Frame-shitENST00000395477ENST00000444129WNK2chr9

95947892

+RECQLchr12

21623280

-
Frame-shitENST00000395477ENST00000421138WNK2chr9

95947892

+RECQLchr12

21623280

-
intron-3CDSENST00000471076ENST00000444129WNK2chr9

95947892

+RECQLchr12

21623280

-
intron-3CDSENST00000471076ENST00000421138WNK2chr9

95947892

+RECQLchr12

21623280

-

Top

FusionProtFeatures for WNK2_RECQL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
WNK2

Q9Y3S1

RECQL

P46063

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}. DNA helicase that may play a role in the repair of DNAthat is damaged by ultraviolet light or other mutagens. Exhibits amagnesium-dependent ATP-dependent DNA-helicase activity thatunwinds single- and double-stranded DNA in a 3'-5' direction.{ECO:0000269|PubMed:15886194, ECO:0000269|PubMed:7961977,ECO:0000269|PubMed:8056767}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for WNK2_RECQL


check button 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).

Top

FusionGenePPI for WNK2_RECQL


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
WNK2YWHAZ, WNK1, SGK1, ATXN1, KLHL3, KLHL2, DGCR14, TSC22D4, PSMC3, SPATA1, TRIM25RECQLKPNA4, KPNA2, BANF1, DDB1, SIRT7, MAP7, MDM2, CYP1A1, FEN1, MSH2, NTRK1, HIST1H2BG, HIST1H3A, MED20, SYNCRIP, GOLT1B, CREB1, MAX, NFATC1, RBPJ, TEAD2, FOXA1, FOXC1, FOXE1, FOXI2, FOXO1, SNRNP27, USP47, PSMC5, UBC


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for WNK2_RECQL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for WNK2_RECQL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRECQLC1458155Mammary Neoplasms1CTD_human