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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: 41991

FusionGeneSummary for WHSC1_PIBF1

check button Fusion gene summary
Fusion gene informationFusion gene name: WHSC1_PIBF1
Fusion gene ID: 41991
HgeneTgene
Gene symbol

WHSC1

PIBF1

Gene ID

7468

10464

Gene namenuclear receptor binding SET domain protein 2progesterone immunomodulatory binding factor 1
SynonymsKMT3F|KMT3G|MMSET|REIIBP|TRX5|WHS|WHSC1C13orf24|CEP90|JBTS33|PIBF
Cytomap

4p16.3

13q21.33-q22.1

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-methyltransferaprogesterone-induced-blocking factor 1centrosomal protein of 90 kDa
Modification date2018051920180519
UniProtAcc

Q8WXW3

Ensembl transtripts involved in fusion geneENST00000508803, ENST00000382892, 
ENST00000382891, ENST00000382895, 
ENST00000482415, ENST00000382888, 
ENST00000514045, ENST00000436793, 
ENST00000420906, ENST00000503128, 
ENST00000398261, 
ENST00000326291, 
ENST00000489922, 
Fusion gene scores* DoF score11 X 9 X 5=4958 X 7 X 9=504
# samples 1110
** MAII scorelog2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/504*10)=-2.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: WHSC1 [Title/Abstract] AND PIBF1 [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
TgenePIBF1

GO:0031393

negative regulation of prostaglandin biosynthetic process

3863495

TgenePIBF1

GO:0032695

negative regulation of interleukin-12 production

14634107

TgenePIBF1

GO:0032733

positive regulation of interleukin-10 production

14634107

TgenePIBF1

GO:0032815

negative regulation of natural killer cell activation

12516630

TgenePIBF1

GO:0042531

positive regulation of tyrosine phosphorylation of STAT protein

16393965

TgenePIBF1

GO:0042532

negative regulation of tyrosine phosphorylation of STAT protein

16393965

TgenePIBF1

GO:0042976

activation of Janus kinase activity

16393965


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
TCGARVHNSCTCGA-HD-7753-01AWHSC1chr4

1873269

+PIBF1chr13

73539412

+
* 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-3CDSENST00000508803ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
5UTR-intronENST00000508803ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-3CDSENST00000382892ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-intronENST00000382892ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-3CDSENST00000382891ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-intronENST00000382891ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-3CDSENST00000382895ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-intronENST00000382895ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-3CDSENST00000482415ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-intronENST00000482415ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-3CDSENST00000382888ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-intronENST00000382888ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
5UTR-3CDSENST00000514045ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
5UTR-intronENST00000514045ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-3CDSENST00000436793ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-intronENST00000436793ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-3CDSENST00000420906ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-intronENST00000420906ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-3CDSENST00000503128ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-intronENST00000503128ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-3CDSENST00000398261ENST00000326291WHSC1chr4

1873269

+PIBF1chr13

73539412

+
intron-intronENST00000398261ENST00000489922WHSC1chr4

1873269

+PIBF1chr13

73539412

+

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FusionProtFeatures for WHSC1_PIBF1


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

PIBF1

Q8WXW3

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}. Plays a role in ciliogenesis.{ECO:0000269|PubMed:26167768}. Isoform 1: Pericentriolar protein required to maintainmitotic spindle pole integrity (PubMed:21224392). Required for thecentrosomal accumulation of PCM1 and the recruitment of centriolarsatellite proteins such as BBS4. Via association with PCM1 may beinvolved in primary cilia formation (PubMed:23110211). Requiredfor CEP63 centrosomal localization and its interaction with WDR62.Together with CEP63 promotes centriole duplication. Promotes thecentrosomal localization of CDK2 (PubMed:26297806).{ECO:0000269|PubMed:21224392, ECO:0000269|PubMed:23110211,ECO:0000269|PubMed:26297806}. Isoform 4: The secreted form is a mediator ofprogesterone that by acting on the phospholipase A2 enzymeinterferes with arachidonic acid metabolism, induces a Th2 biasedimmune response, and by controlling decidual naturakl killer cells(NK) activity exerts an anti-abortive effect (PubMed:14634107,PubMed:3863495, PubMed:12516630). Increases the production of Th2-type cytokines by signaling via the JAK/STAT pathway. ActivatesSTAT6 and inhibits STAT4 phosphorylation. Signaling via a notidentified receptor seems to implicate IL4R and a GPI-anchoredprotein (PubMed:16393965, PubMed:25218441).{ECO:0000269|PubMed:12516630, ECO:0000269|PubMed:14634107,ECO:0000269|PubMed:16393965, ECO:0000269|PubMed:25218441,ECO:0000269|PubMed:3863495, ECO:0000305|PubMed:11407300}.

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_PIBF1


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_PIBF1


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
WHSC1AR, HDAC1, SIN3B, WHSC1, HDAC2, SIN3A, KDM1A, BRD4, SIRT7, HIST2H3C, IQGAP1, TIAM1, CTNNB1, MDC1, APP, LSM1, TRIM28, HIST3H3, HIST1H3A, ESR1, RPL14, RPL8, ZC3H3, PRR11, RBM4B, GEMIN4, GEMIN5, DDX20, GOLGA3, MYBBP1A, PLEC, CCDC88C, RPL6, RBM10, PRPSAP2, THRAP3, RPLP0, PTPN13, SMN1, KIF11, WDR77, MYCBP2, MAP1B, SKIV2L2, IFI16, HIST1H4A, DTL, PCNA, CDC14B, WDR46, DGCR8, RPL30, HIST1H1E, PRDM5, ZNF2, CNBP, ZNF692, RPL28, RPL37A, RRP8, CPNE4, KNOP1, GLTSCR2, GPATCH4, ZC3HAV1, TRIM25PIBF1MAP3K2, APP, SAV1, SHMT2, NXF1, SLC25A41, PPP1R21, C17orf59, NTRK1, CEP63, KIAA0753, CCDC14, MED4, CEP290, CEP162, PCM1, SSX2IP, OFD1, CEP120, SPICE1, CEP128, CEP135, CEP89, CNTRL, NIN, ODF2, POC5, LCA5, SASS6, ITPKB, PCNT, FGFR1OP, MAPRE1, BORA, KIF7, PTPN22, TPTE2, TSNAXIP1, VAT1L, CPNE2, LRRCC1, EXOC3, PTPRQ, AHI1, EEA1, SNX27, ATP2B2, CEP131, SLC9A3R2


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_PIBF1


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_PIBF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePIBF1C0000821Threatened abortion1CTD_human