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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 26951

FusionGeneSummary for PHF2_WNK2

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF2_WNK2
Fusion gene ID: 26951
HgeneTgene
Gene symbol

PHF2

WNK2

Gene ID

5253

65268

Gene namePHD finger protein 2WNK lysine deficient protein kinase 2
SynonymsCENP-35|GRC5|JHDM1E|KDM7CNY-CO-43|P/OKcl.13|PRKWNK2|SDCCAG43
Cytomap

9q22.31

9q22.31

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase PHF2centromere protein 35jumonji C domain-containing histone demethylase 1Eserine/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
Modification date2018051920180523
UniProtAcc

O75151

Q9Y3S1

Ensembl transtripts involved in fusion geneENST00000359246, ENST00000375376, 
ENST00000427277, ENST00000297954, 
ENST00000395475, ENST00000356055, 
ENST00000349097, ENST00000395477, 
ENST00000471076, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 7 X 7=343
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(7/343*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHF2 [Title/Abstract] AND WNK2 [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
HgenePHF2

GO:0006482

protein demethylation

21532585

TgeneWNK2

GO:0006468

protein phosphorylation

21733846

TgeneWNK2

GO:0046777

protein autophosphorylation

17667937


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
TCGALDESCATCGA-R6-A8W5-01BPHF2chr9

96339153

+WNK2chr9

96000515

+
* 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
Frame-shiftENST00000359246ENST00000427277PHF2chr9

96339153

+WNK2chr9

96000515

+
Frame-shiftENST00000359246ENST00000297954PHF2chr9

96339153

+WNK2chr9

96000515

+
Frame-shiftENST00000359246ENST00000395475PHF2chr9

96339153

+WNK2chr9

96000515

+
5CDS-5UTRENST00000359246ENST00000356055PHF2chr9

96339153

+WNK2chr9

96000515

+
5CDS-5UTRENST00000359246ENST00000349097PHF2chr9

96339153

+WNK2chr9

96000515

+
5CDS-5UTRENST00000359246ENST00000395477PHF2chr9

96339153

+WNK2chr9

96000515

+
5CDS-intronENST00000359246ENST00000471076PHF2chr9

96339153

+WNK2chr9

96000515

+
Frame-shiftENST00000375376ENST00000427277PHF2chr9

96339153

+WNK2chr9

96000515

+
Frame-shiftENST00000375376ENST00000297954PHF2chr9

96339153

+WNK2chr9

96000515

+
Frame-shiftENST00000375376ENST00000395475PHF2chr9

96339153

+WNK2chr9

96000515

+
5CDS-5UTRENST00000375376ENST00000356055PHF2chr9

96339153

+WNK2chr9

96000515

+
5CDS-5UTRENST00000375376ENST00000349097PHF2chr9

96339153

+WNK2chr9

96000515

+
5CDS-5UTRENST00000375376ENST00000395477PHF2chr9

96339153

+WNK2chr9

96000515

+
5CDS-intronENST00000375376ENST00000471076PHF2chr9

96339153

+WNK2chr9

96000515

+

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FusionProtFeatures for PHF2_WNK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHF2

O75151

WNK2

Q9Y3S1

Lysine demethylase that demethylates both histones andnon-histone proteins. Enzymatically inactive by itself, andbecomes active following phosphorylation by PKA: forms a complexwith ARID5B and mediates demethylation of methylated ARID5B.Demethylation of ARID5B leads to target the PHF2-ARID5B complex totarget promoters, where PHF2 mediates demethylation ofdimethylated 'Lys-9' of histone H3 (H3K9me2), followed bytranscription activation of target genes. The PHF2-ARID5B complexacts as a coactivator of HNF4A in liver. PHF2 is recruited totrimethylated 'Lys-4' of histone H3 (H3K4me3) at rDNA promotersand promotes expression of rDNA. {ECO:0000269|PubMed:20129925,ECO:0000269|PubMed:21167174, ECO:0000269|PubMed:21532585}. 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}.

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


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FusionGeneSequence for PHF2_WNK2


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).

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FusionGenePPI for PHF2_WNK2


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
PHF2HIST2H3C, HIST3H3, HIST1H2BG, USP37, CDC14B, FOXA1WNK2YWHAZ, WNK1, SGK1, ATXN1, KLHL3, KLHL2, DGCR14, TSC22D4, PSMC3, SPATA1, TRIM25


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


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RelatedDrugs for PHF2_WNK2


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

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RelatedDiseases for PHF2_WNK2


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