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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: 41992

FusionGeneSummary for WHSC1_PRKCZ

check button Fusion gene summary
Fusion gene informationFusion gene name: WHSC1_PRKCZ
Fusion gene ID: 41992
HgeneTgene
Gene symbol

WHSC1

PRKCZ

Gene ID

7468

5590

Gene namenuclear receptor binding SET domain protein 2protein kinase C zeta
SynonymsKMT3F|KMT3G|MMSET|REIIBP|TRX5|WHS|WHSC1PKC-ZETA|PKC2
Cytomap

4p16.3

1p36.33

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase NSD2IL5 promoter REII region-binding proteinWolf-Hirschhorn syndrome candidate 1multiple myeloma SET domain containing protein type IIInuclear SET domain-containing protein 2probable histone-lysine N-methyltransferaprotein kinase C zeta typenPKC-zeta
Modification date2018051920180523
UniProtAcc

Q05513

Ensembl transtripts involved in fusion geneENST00000508803, ENST00000382892, 
ENST00000382891, ENST00000382895, 
ENST00000482415, ENST00000382888, 
ENST00000514045, ENST00000436793, 
ENST00000420906, ENST00000503128, 
ENST00000398261, 		ENST00000400921, 
ENST00000400920, ENST00000479263, 
Fusion gene scores* DoF score11 X 9 X 5=4959 X 8 X 5=360
# samples 1110
** MAII scorelog2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: WHSC1 [Title/Abstract] AND PRKCZ [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
TgenePRKCZ

GO:0006468

protein phosphorylation

10770950|17313651

TgenePRKCZ

GO:0018105

peptidyl-serine phosphorylation

15069075


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
ChiTaRS3.1CF529961WHSC1chr4

1979386

-PRKCZchr1

2116108

-
* 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
intron-3CDSENST00000508803ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000508803ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000508803ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000382892ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000382892ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000382892ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000382891ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000382891ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000382891ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000382895ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000382895ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000382895ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000482415ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000482415ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000482415ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000382888ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000382888ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000382888ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000514045ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000514045ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000514045ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000436793ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000436793ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000436793ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000420906ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000420906ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000420906ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000503128ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000503128ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000503128ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000398261ENST00000400921WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3CDSENST00000398261ENST00000400920WHSC1chr4

1979386

-PRKCZchr1

2116108

-
intron-3UTRENST00000398261ENST00000479263WHSC1chr4

1979386

-PRKCZchr1

2116108

-

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FusionProtFeatures for WHSC1_PRKCZ


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
WHSC1

PRKCZ

Q05513

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Calcium- and diacylglycerol-independentserine/threonine-protein kinase that functions inphosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activatedprotein (MAP) kinase cascade, and is involved in NF-kappa-Bactivation, mitogenic signaling, cell proliferation, cellpolarity, inflammatory response and maintenance of long-termpotentiation (LTP). Upon lipopolysaccharide (LPS) treatment inmacrophages, or following mitogenic stimuli, functions downstreamof PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signaling cascadeindependently of RAF1 activation. Required for insulin-dependentactivation of AKT3, but may function as an adapter rather than adirect activator. Upon insulin treatment may act as a downstreameffector of PI3K and contribute to the activation of translocationof the glucose transporter SLC2A4/GLUT4 and subsequent glucosetransport in adipocytes. In EGF-induced cells, binds and activatesMAP2K5/MEK5-MAPK7/ERK5 independently of its kinase activity andcan activate JUN promoter through MEF2C. Through binding withSQSTM1/p62, functions in interleukin-1 signaling and activation ofNF-kappa-B with the specific adapters RIPK1 and TRAF6.Participates in TNF-dependent transactivation of NF-kappa-B byphosphorylating and activating IKBKB kinase, which in turn leadsto the degradation of NF-kappa-B inhibitors. In migratingastrocytes, forms a cytoplasmic complex with PARD6A and isrecruited by CDC42 to function in the establishment of cellpolarity along with the microtubule motor and dynein. Inassociation with FEZ1, stimulates neuronal differentiation in PC12cells. In the inflammatory response, is required for the T-helper2 (Th2) differentiation process, including interleukin production,efficient activation of JAK1 and the subsequent phosphorylationand nuclear translocation of STAT6. May be involved in developmentof allergic airway inflammation (asthma), a process dependent onTh2 immune response. In the NF-kappa-B-mediated inflammatoryresponse, can relieve SETD6-dependent repression of NF-kappa-Btarget genes by phosphorylating the RELA subunit at 'Ser-311'.Necessary and sufficient for LTP maintenance in hippocampal CA1pyramidal cells. In vein endothelial cells treated with theoxidant peroxynitrite, phosphorylates STK11 leading to nuclearexport of STK11, subsequent inhibition of PI3K/Akt signaling, andincreased apoptosis. Phosphorylates VAMP2 in vitro(PubMed:17313651). {ECO:0000269|PubMed:11035106,ECO:0000269|PubMed:12162751, ECO:0000269|PubMed:15084291,ECO:0000269|PubMed:15324659, ECO:0000269|PubMed:17313651,ECO:0000269|PubMed:18321849, ECO:0000269|PubMed:9447975}.

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 WHSC1_PRKCZ


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 WHSC1_PRKCZ


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


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 WHSC1_PRKCZ


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 WHSC1_PRKCZ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRKCZC0005586Bipolar Disorder1PSYGENET
TgenePRKCZC0023418leukemia1CTD_human
TgenePRKCZC0033578Prostatic Neoplasms1CTD_human
TgenePRKCZC1839839MAJOR AFFECTIVE DISORDER 21PSYGENET