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Fusion gene ID: 26380 |
FusionGeneSummary for PDE3A_CENPF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDE3A_CENPF | Fusion gene ID: 26380 | Hgene | Tgene | Gene symbol | PDE3A | CENPF | Gene ID | 5139 | 1063 |
| Gene name | phosphodiesterase 3A | centromere protein F | |
| Synonyms | CGI-PDE|CGI-PDE A|CGI-PDE-A|HTNB | CENF|CILD31|PRO1779|STROMS|hcp-1 | |
| Cytomap | 12p12.2 | 1q41 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cGMP-inhibited 3',5'-cyclic phosphodiesterase AcAMP phosphodiesterase, myocardial cGMP-inhibitedcyclic GMP-inhibited phosphodiesterase Aphosphodiesterase 3A, cGMP-inhibited | centromere protein FAH antigenCENP-F kinetochore proteincell-cycle-dependent 350K nuclear proteincentromere protein F, 350/400kDakinetochore protein CENPFmitosin | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q14432 | P49454 | |
| Ensembl transtripts involved in fusion gene | ENST00000359062, ENST00000544307, | ENST00000366955, ENST00000467765, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 6 X 6 X 2=72 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PDE3A [Title/Abstract] AND CENPF [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 | PDE3A | GO:0006198 | cAMP catabolic process | 17704206 |
| Hgene | PDE3A | GO:0071321 | cellular response to cGMP | 17704206 |
| Tgene | CENPF | GO:0015031 | protein transport | 12974617 |
| Tgene | CENPF | GO:0045892 | negative regulation of transcription, DNA-templated | 15677469 |
| Tgene | CENPF | GO:0051310 | metaphase plate congression | 15870278 |
| 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 | AF118076 | PDE3A | chr12 | 20597267 | - | CENPF | chr1 | 214822023 | + |
| * 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 | ENST00000359062 | ENST00000366955 | PDE3A | chr12 | 20597267 | - | CENPF | chr1 | 214822023 | + |
| intron-3CDS | ENST00000359062 | ENST00000467765 | PDE3A | chr12 | 20597267 | - | CENPF | chr1 | 214822023 | + |
| intron-3CDS | ENST00000544307 | ENST00000366955 | PDE3A | chr12 | 20597267 | - | CENPF | chr1 | 214822023 | + |
| intron-3CDS | ENST00000544307 | ENST00000467765 | PDE3A | chr12 | 20597267 | - | CENPF | chr1 | 214822023 | + |
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FusionProtFeatures for PDE3A_CENPF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDE3A | CENPF |
| Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are keyregulators of many important physiological processes.{ECO:0000250|UniProtKB:Q9Z0X4}. | Required for kinetochore function and chromosomesegregation in mitosis. Required for kinetochore localization ofdynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasmamembrane by acting as a link between recycling vesicles and themicrotubule network though its association with STX4 and SNAP25.Acts as a potential inhibitor of pocket protein-mediated cellularprocesses during development by regulating the activity of RBproteins during cell division and proliferation. May play aregulatory or permissive role in the normal embryoniccardiomyocyte cell cycle and in promoting continued mitosis intransformed, abnormally dividing neonatal cardiomyocytes.Interaction with RB directs embryonic stem cells toward a cardiaclineage. Involved in the regulation of DNA synthesis and hencecell cycle progression, via its C-terminus. Has a potential roleregulating skeletal myogenesis and in cell differentiation inembryogenesis. Involved in dendritic cell regulation of T-cellimmunity against chlamydia. {ECO:0000269|PubMed:12974617,ECO:0000269|PubMed:17600710, ECO:0000269|PubMed:7542657,ECO:0000269|PubMed:7651420}. |
| 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 PDE3A_CENPF |
| 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 PDE3A_CENPF |
| 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 PDE3A_CENPF |
| 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 |
| Hgene | PDE3A | Q14432 | DB00235 | Milrinone | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved |
| Hgene | PDE3A | Q14432 | DB00261 | Anagrelide | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved |
| Hgene | PDE3A | Q14432 | DB00277 | Theophylline | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved |
| Hgene | PDE3A | Q14432 | DB01223 | Aminophylline | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved |
| Hgene | PDE3A | Q14432 | DB01303 | Oxtriphylline | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved |
| Hgene | PDE3A | Q14432 | DB01427 | Amrinone | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved |
| Hgene | PDE3A | Q14432 | DB08811 | Tofisopam | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved |
| Hgene | PDE3A | Q14432 | DB00922 | Levosimendan | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved|investigational |
| Hgene | PDE3A | Q14432 | DB01166 | Cilostazol | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved|investigational |
| Hgene | PDE3A | Q14432 | DB04880 | Enoximone | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved|investigational |
| Hgene | PDE3A | Q14432 | DB05266 | Ibudilast | cGMP-inhibited 3',5'-cyclic phosphodiesterase A | small molecule | approved|investigational |
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RelatedDiseases for PDE3A_CENPF |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDE3A | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | PDE3A | C0040053 | Thrombosis | 1 | CTD_human |
| Hgene | PDE3A | C1862170 | Brachydactyly with hypertension | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CENPF | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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