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Fusion gene ID: 41991 |
FusionGeneSummary for WHSC1_PIBF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: WHSC1_PIBF1 | Fusion gene ID: 41991 | Hgene | Tgene | Gene symbol | WHSC1 | PIBF1 | Gene ID | 7468 | 10464 |
| Gene name | nuclear receptor binding SET domain protein 2 | progesterone immunomodulatory binding factor 1 | |
| Synonyms | KMT3F|KMT3G|MMSET|REIIBP|TRX5|WHS|WHSC1 | C13orf24|CEP90|JBTS33|PIBF | |
| Cytomap | 4p16.3 | 13q21.33-q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-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-methyltransfera | progesterone-induced-blocking factor 1centrosomal protein of 90 kDa | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8WXW3 | ||
| Ensembl transtripts involved in fusion gene | ENST00000508803, ENST00000382892, ENST00000382891, ENST00000382895, ENST00000482415, ENST00000382888, ENST00000514045, ENST00000436793, ENST00000420906, ENST00000503128, ENST00000398261, | ENST00000326291, ENST00000489922, | |
| Fusion gene scores | * DoF score | 11 X 9 X 5=495 | 8 X 7 X 9=504 |
| # samples | 11 | 10 | |
| ** MAII score | log2(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) |
| 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 |
| Tgene | PIBF1 | GO:0031393 | negative regulation of prostaglandin biosynthetic process | 3863495 |
| Tgene | PIBF1 | GO:0032695 | negative regulation of interleukin-12 production | 14634107 |
| Tgene | PIBF1 | GO:0032733 | positive regulation of interleukin-10 production | 14634107 |
| Tgene | PIBF1 | GO:0032815 | negative regulation of natural killer cell activation | 12516630 |
| Tgene | PIBF1 | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein | 16393965 |
| Tgene | PIBF1 | GO:0042532 | negative regulation of tyrosine phosphorylation of STAT protein | 16393965 |
| Tgene | PIBF1 | GO:0042976 | activation of Janus kinase activity | 16393965 |
| 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 | HNSC | TCGA-HD-7753-01A | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| * 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 |
| 5UTR-3CDS | ENST00000508803 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| 5UTR-intron | ENST00000508803 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-3CDS | ENST00000382892 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-intron | ENST00000382892 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-3CDS | ENST00000382891 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-intron | ENST00000382891 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-3CDS | ENST00000382895 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-intron | ENST00000382895 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-3CDS | ENST00000482415 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-intron | ENST00000482415 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-3CDS | ENST00000382888 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-intron | ENST00000382888 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| 5UTR-3CDS | ENST00000514045 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| 5UTR-intron | ENST00000514045 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-3CDS | ENST00000436793 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-intron | ENST00000436793 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-3CDS | ENST00000420906 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-intron | ENST00000420906 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-3CDS | ENST00000503128 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-intron | ENST00000503128 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-3CDS | ENST00000398261 | ENST00000326291 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
| intron-intron | ENST00000398261 | ENST00000489922 | WHSC1 | chr4 | 1873269 | + | PIBF1 | chr13 | 73539412 | + |
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FusionProtFeatures for WHSC1_PIBF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| WHSC1 | PIBF1 |
| 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}. |
| 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 WHSC1_PIBF1 |
| 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 |
| 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 |
| WHSC1 | AR, 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, TRIM25 | PIBF1 | MAP3K2, 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 |
| - 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 WHSC1_PIBF1 |
| 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 WHSC1_PIBF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PIBF1 | C0000821 | Threatened abortion | 1 | CTD_human |
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