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Fusion gene ID: 12208 |
FusionGeneSummary for EVC_P2RX7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EVC_P2RX7 | Fusion gene ID: 12208 | Hgene | Tgene | Gene symbol | EVC | P2RX7 | Gene ID | 2121 | 5027 |
| Gene name | EvC ciliary complex subunit 1 | purinergic receptor P2X 7 | |
| Synonyms | DWF-1|EVC1|EVCL | P2X7 | |
| Cytomap | 4p16.2 | 12q24.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ellis-van Creveld syndrome proteinEllis van Creveld proteinEllis van Creveld syndrome | P2X purinoceptor 7ATP receptorP2X7 receptorP2Z receptorpurinergic receptor P2X, ligand gated ion channel, 7purinergic receptor P2X7 variant A | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | P57679 | Q99572 | |
| Ensembl transtripts involved in fusion gene | ENST00000264956, ENST00000382674, ENST00000509451, ENST00000515113, | ENST00000546057, ENST00000377162, ENST00000328963, ENST00000535250, ENST00000443520, ENST00000541446, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 2 X 2 X 1=4 |
| # samples | 6 | 3 | |
| ** MAII score | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/4*10)=2.90689059560852 | |
| Context | PubMed: EVC [Title/Abstract] AND P2RX7 [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 | P2RX7 | GO:0010524 | positive regulation of calcium ion transport into cytosol | 9038151 |
| Tgene | P2RX7 | GO:0017121 | phospholipid scrambling | 25651887 |
| Tgene | P2RX7 | GO:0032060 | bleb assembly | 12107182 |
| Tgene | P2RX7 | GO:0033198 | response to ATP | 9038151 |
| Tgene | P2RX7 | GO:0046931 | pore complex assembly | 9038151 |
| Tgene | P2RX7 | GO:0050718 | positive regulation of interleukin-1 beta secretion | 17036048|18089587 |
| Tgene | P2RX7 | GO:0051899 | membrane depolarization | 9038151 |
| 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 | N28327 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + | ||
| ChiTaRS3.1 | N39630 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| * 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 |
| 3UTR-3UTR | ENST00000264956 | ENST00000546057 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-intron | ENST00000264956 | ENST00000377162 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-3UTR | ENST00000264956 | ENST00000328963 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-intron | ENST00000264956 | ENST00000535250 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-intron | ENST00000264956 | ENST00000443520 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-intron | ENST00000264956 | ENST00000541446 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-3UTR | ENST00000382674 | ENST00000546057 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-intron | ENST00000382674 | ENST00000377162 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-3UTR | ENST00000382674 | ENST00000328963 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-intron | ENST00000382674 | ENST00000535250 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-intron | ENST00000382674 | ENST00000443520 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| 3UTR-intron | ENST00000382674 | ENST00000541446 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-3UTR | ENST00000509451 | ENST00000546057 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-intron | ENST00000509451 | ENST00000377162 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-3UTR | ENST00000509451 | ENST00000328963 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-intron | ENST00000509451 | ENST00000535250 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-intron | ENST00000509451 | ENST00000443520 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-intron | ENST00000509451 | ENST00000541446 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-3UTR | ENST00000515113 | ENST00000546057 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-intron | ENST00000515113 | ENST00000377162 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-3UTR | ENST00000515113 | ENST00000328963 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-intron | ENST00000515113 | ENST00000535250 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-intron | ENST00000515113 | ENST00000443520 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
| intron-intron | ENST00000515113 | ENST00000541446 | EVC | chr4 | 5814952 | + | P2RX7 | chr12 | 121622850 | + |
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FusionProtFeatures for EVC_P2RX7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EVC | P2RX7 |
| Component of the EvC complex that positively regulatesciliary Hedgehog (Hh) signaling. Involved in endochondral growthand skeletal development. {ECO:0000250|UniProtKB:P57680}. |
| 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 EVC_P2RX7 |
| 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 EVC_P2RX7 |
| 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 EVC_P2RX7 |
| 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 EVC_P2RX7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EVC | C0013903 | Ellis-Van Creveld Syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | EVC | C0457013 | Weyers acrofacial dysostosis | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | P2RX7 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Tgene | P2RX7 | C0011570 | Mental Depression | 5 | PSYGENET |
| Tgene | P2RX7 | C0011581 | Depressive disorder | 5 | PSYGENET |
| Tgene | P2RX7 | C0525045 | Mood Disorders | 5 | PSYGENET |
| Tgene | P2RX7 | C0014556 | Epilepsy, Temporal Lobe | 2 | CTD_human |
| Tgene | P2RX7 | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human;ORPHANET |
| Tgene | P2RX7 | C0026769 | Multiple Sclerosis | 1 | CTD_human |
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