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Fusion gene ID: 9753 |
FusionGeneSummary for DENND5B_PLCZ1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DENND5B_PLCZ1 | Fusion gene ID: 9753 | Hgene | Tgene | Gene symbol | DENND5B | PLCZ1 | Gene ID | 160518 | 89869 |
| Gene name | DENN domain containing 5B | phospholipase C zeta 1 | |
| Synonyms | - | NYD-SP27|PLC-zeta-1|PLCzeta|SPGF17 | |
| Cytomap | 12p11.21 | 12p12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DENN domain-containing protein 5BDENN/MADD domain containing 5Brab6IP1-like protein | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1PI-phospholipase C zeta 1phosphoinositide phospholipase C-zeta-1testicular tissue protein Li 145testis-development related NYD-SP27 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q6ZUT9 | Q86YW0 | |
| Ensembl transtripts involved in fusion gene | ENST00000306833, ENST00000389082, ENST00000536562, ENST00000354285, ENST00000545147, | ENST00000447925, ENST00000435379, ENST00000266505, ENST00000539875, ENST00000534932, ENST00000538330, ENST00000541695, ENST00000542762, | |
| Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 3 X 2 X 2=12 |
| # 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(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DENND5B [Title/Abstract] AND PLCZ1 [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 | PLCZ1 | GO:0060470 | positive regulation of cytosolic calcium ion concentration involved in egg activation | 18322275|26116451 |
| 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 | LGG | TCGA-HT-7884-01B | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| * 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 |
| 5CDS-5UTR | ENST00000306833 | ENST00000447925 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000306833 | ENST00000435379 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000306833 | ENST00000266505 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000306833 | ENST00000539875 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000306833 | ENST00000534932 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000306833 | ENST00000538330 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000306833 | ENST00000541695 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000306833 | ENST00000542762 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000389082 | ENST00000447925 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000389082 | ENST00000435379 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000389082 | ENST00000266505 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000389082 | ENST00000539875 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000389082 | ENST00000534932 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000389082 | ENST00000538330 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000389082 | ENST00000541695 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000389082 | ENST00000542762 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000536562 | ENST00000447925 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000536562 | ENST00000435379 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000536562 | ENST00000266505 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000536562 | ENST00000539875 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000536562 | ENST00000534932 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000536562 | ENST00000538330 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000536562 | ENST00000541695 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000536562 | ENST00000542762 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000354285 | ENST00000447925 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000354285 | ENST00000435379 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-5UTR | ENST00000354285 | ENST00000266505 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000354285 | ENST00000539875 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000354285 | ENST00000534932 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000354285 | ENST00000538330 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000354285 | ENST00000541695 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5CDS-intron | ENST00000354285 | ENST00000542762 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5UTR-5UTR | ENST00000545147 | ENST00000447925 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5UTR-5UTR | ENST00000545147 | ENST00000435379 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5UTR-5UTR | ENST00000545147 | ENST00000266505 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5UTR-intron | ENST00000545147 | ENST00000539875 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5UTR-intron | ENST00000545147 | ENST00000534932 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5UTR-intron | ENST00000545147 | ENST00000538330 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5UTR-intron | ENST00000545147 | ENST00000541695 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
| 5UTR-intron | ENST00000545147 | ENST00000542762 | DENND5B | chr12 | 31648744 | - | PLCZ1 | chr12 | 18890443 | - |
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FusionProtFeatures for DENND5B_PLCZ1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DENND5B | PLCZ1 |
| Guanine nucleotide exchange factor (GEF) which mayactivate RAB39A and/or RAB39B. Promotes the exchange of GDP toGTP, converting inactive GDP-bound Rab proteins into their activeGTP-bound form. {ECO:0000269|PubMed:20937701}. | The production of the second messenger moleculesdiacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) ismediated by activated phosphatidylinositol-specific phospholipaseC enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations inoocytes solely during M phase and is involved in inducing oocyteactivation and initiating embryonic development up to theblastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is transferred from the sperminto the egg cytoplasm following gamete membrane fusion. May exertan inhibitory effect on phospholipase-C-coupled processes thatdepend on calcium ions and protein kinase C, including CFTRtrafficking and function. {ECO:0000250|UniProtKB:Q8K4D7,ECO:0000269|PubMed:12416999, ECO:0000269|PubMed:14697805,ECO:0000269|PubMed:15579586, ECO:0000269|PubMed:26721930,ECO:0000305}. |
| 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 DENND5B_PLCZ1 |
| 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 DENND5B_PLCZ1 |
| 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 |
| DENND5B | NTMT1, HSF1, GRB10, TRIM25 | PLCZ1 | KLK7, CST6, SEMG1, SERPINA12, HAL, HBD, ECM1 |
| - 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 DENND5B_PLCZ1 |
| 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 DENND5B_PLCZ1 |
| 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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