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Fusion gene ID: 26300 |
FusionGeneSummary for PCSK4_P2RX3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PCSK4_P2RX3 | Fusion gene ID: 26300 | Hgene | Tgene | Gene symbol | PCSK4 | P2RX3 | Gene ID | 54760 | 5024 |
| Gene name | proprotein convertase subtilisin/kexin type 4 | purinergic receptor P2X 3 | |
| Synonyms | PC4|SPC5 | P2X3 | |
| Cytomap | 19p13.3 | 11q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | proprotein convertase subtilisin/kexin type 4testicular tissue protein Li 135 | P2X purinoceptor 3ATP receptorP2X receptor, subunit 3purinergic receptor P2X, ligand gated ion channel, 3purinergic receptor P2X3purinoceptor P2X3 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q6UW60 | P56373 | |
| Ensembl transtripts involved in fusion gene | ENST00000300954, ENST00000587784, | ENST00000533436, ENST00000263314, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: PCSK4 [Title/Abstract] AND P2RX3 [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 |
| Hgene | PCSK4 | GO:0016485 | protein processing | 16040806 |
| 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 |
| ChiTaRS3.1 | T10978 | PCSK4 | chr19 | 1488521 | - | P2RX3 | chr11 | 57107719 | + |
| * 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-intron | ENST00000300954 | ENST00000533436 | PCSK4 | chr19 | 1488521 | - | P2RX3 | chr11 | 57107719 | + |
| intron-intron | ENST00000300954 | ENST00000263314 | PCSK4 | chr19 | 1488521 | - | P2RX3 | chr11 | 57107719 | + |
| intron-intron | ENST00000587784 | ENST00000533436 | PCSK4 | chr19 | 1488521 | - | P2RX3 | chr11 | 57107719 | + |
| intron-intron | ENST00000587784 | ENST00000263314 | PCSK4 | chr19 | 1488521 | - | P2RX3 | chr11 | 57107719 | + |
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FusionProtFeatures for PCSK4_P2RX3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PCSK4 | P2RX3 |
| Proprotein convertase involved in the processing ofhormone and other protein precursors at sites comprised of pairsof basic amino acid residues (By similarity). In males, importantfor ADAM2 processing as well as other acrosomal proteins withroles in fertilization and critical for normal fertilizationevents such as sperm capacitation, acrosome reaction and bindingof sperm to zona pellucida (By similarity). Plays also a role infemale fertility, involved in the regulation of trophoblastmigration and placental development, may be through theproteolytical processing and activation of proteins such as IGF2(PubMed:16040806). May also participate in folliculogenesis in theovaries (By similarity). {ECO:0000250|UniProtKB:P29121,ECO:0000269|PubMed:16040806}. | Receptor for ATP that acts as a ligand-gated cationchannel (PubMed:27626375). Plays a role in sensory perception.Required for normal perception of pain. Required for normal tasteperception (By similarity). {ECO:0000250|UniProtKB:Q3UR32,ECO:0000269|PubMed:27626375}. |
| 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 PCSK4_P2RX3 |
| 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 PCSK4_P2RX3 |
| 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 |
| - 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 PCSK4_P2RX3 |
| 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 PCSK4_P2RX3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | P2RX3 | C0020429 | Hyperalgesia | 1 | CTD_human |
| Tgene | P2RX3 | C0751792 | Trauma, Nervous System | 1 | CTD_human |
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