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Fusion gene ID: 26883 |
FusionGeneSummary for PHC2_NLRP4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PHC2_NLRP4 | Fusion gene ID: 26883 | Hgene | Tgene | Gene symbol | PHC2 | NLRP4 | Gene ID | 1912 | 147945 |
| Gene name | polyhomeotic homolog 2 | NLR family pyrin domain containing 4 | |
| Synonyms | EDR2|HPH2|PH2 | CLR19.5|CT58|NALP4|PAN2|PYPAF4|RNH2 | |
| Cytomap | 1p35.1 | 19q13.43 | |
| Type of gene | protein-coding | protein-coding | |
| Description | polyhomeotic-like protein 2early development regulator 2 (homolog of polyhomeotic 2)early development regulatory protein 2polyhomeotic 2polyhomeotic-like 2 | NACHT, LRR and PYD domains-containing protein 4NACHT, leucine rich repeat and PYD containing 4PAAD and NACHT-containing protein 2PYRIN and NACHT-containing protein 2PYRIN-containing APAF1-like protein 4cancer/testis antigen 58nucleotide-binding olig | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q8IXK0 | Q96MN2 | |
| Ensembl transtripts involved in fusion gene | ENST00000431992, ENST00000373422, ENST00000257118, ENST00000419414, ENST00000373416, ENST00000485928, ENST00000373418, | ENST00000301295, ENST00000346986, ENST00000587891, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 3 X 5 X 3=45 |
| # samples | 5 | 5 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/45*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PHC2 [Title/Abstract] AND NLRP4 [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 |
| 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 | UCEC | TCGA-DF-A2KR-01A | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| * 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 |
| intron-3CDS | ENST00000431992 | ENST00000301295 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000431992 | ENST00000346986 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000431992 | ENST00000587891 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000373422 | ENST00000301295 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000373422 | ENST00000346986 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000373422 | ENST00000587891 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000257118 | ENST00000301295 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000257118 | ENST00000346986 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000257118 | ENST00000587891 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000419414 | ENST00000301295 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000419414 | ENST00000346986 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000419414 | ENST00000587891 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000373416 | ENST00000301295 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000373416 | ENST00000346986 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| intron-3CDS | ENST00000373416 | ENST00000587891 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| 5UTR-3CDS | ENST00000485928 | ENST00000301295 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| 5UTR-3CDS | ENST00000485928 | ENST00000346986 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| 5UTR-3CDS | ENST00000485928 | ENST00000587891 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| 5UTR-3CDS | ENST00000373418 | ENST00000301295 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| 5UTR-3CDS | ENST00000373418 | ENST00000346986 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
| 5UTR-3CDS | ENST00000373418 | ENST00000587891 | PHC2 | chr1 | 33815198 | - | NLRP4 | chr19 | 56382193 | + |
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FusionProtFeatures for PHC2_NLRP4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PHC2 | NLRP4 |
| May be involved in inflammation and recognition ofcytosolic pathogen-associated molecular patterns (PAMPs) notintercepted by membrane-bound receptors. Acts as a negativeregulator of the type I interferon signaling pathway by serving asan adapter to promote DTX4-mediated ubiquitination of activatedTBK1, and its subsequent degradation. Suppresses NF-kappaBinduction by the cytokines TNFA and IL1B, suggesting that itoperates at a point of convergence in these two cytokine signalingpathways. {ECO:0000269|PubMed:12093792,ECO:0000269|PubMed:22388039}. |
| 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 PHC2_NLRP4 |
| 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 PHC2_NLRP4 |
| 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 |
| PHC2 | MAPKAPK2, FHL3, PHC2, LMO3, MCRS1, SFMBT1, PHC1, BMI1, AFG3L2, BSDC1, RPL7, MCM2, SCMH1, CBX7, PCGF2, RING1, SIAH1, MAPK6, TAB1, MAPK14, RNF2, PHC3, CBX2, CBX4, CBX6, CBX8, SCML1, SCML2, HDAC2, MAPKAPK3, GFI1B, SOX2, PLK1, CSNK2B, CRKL, GRB2, NCK1, HECW2, KDM1A, BYSL, KIFC3, LMO1, LMO2, SMAD3, MFAP1, DRG1, POLR2L, PRKAA1, SDCBP, AP1M1, RBM39, MORF4L2, ZBTB24, RWDD2B, PCGF3, KAT5, PPP1R16B, PRPF31, C1orf109, CARD9, AEN, THAP7, SYT16, KBTBD7, ENKD1, FAM161A, SPATC1L, PCGF5, L3MBTL3, ZGPAT, TRIM41, SSX2IP, MAB21L3, ZNF417, ZMAT2, MAGEB6, FAM124A, FAM13C, FAM74A1, FAM74A4, HIST3H3, EED, CRK, HIST1H2BG, SORT1, SYNCRIP, PCGF1, SFTPC | NLRP4 | CHUK, TBK1, DTX4, HSP90AA1, SUGT1, SH3BP1 |
| - 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 PHC2_NLRP4 |
| 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 PHC2_NLRP4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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