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Fusion gene ID: 27117 |
FusionGeneSummary for PIEZO1_KLHDC4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PIEZO1_KLHDC4 | Fusion gene ID: 27117 | Hgene | Tgene | Gene symbol | PIEZO1 | KLHDC4 | Gene ID | 9780 | 54758 |
| Gene name | piezo type mechanosensitive ion channel component 1 | kelch domain containing 4 | |
| Synonyms | DHS|FAM38A|LMPH3|Mib | - | |
| Cytomap | 16q24.3 | 16q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | piezo-type mechanosensitive ion channel component 1family with sequence similarity 38, member Amembrane protein induced by beta-amyloid treatment | kelch domain-containing protein 4 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q92508 | Q8TBB5 | |
| Ensembl transtripts involved in fusion gene | ENST00000301015, ENST00000327397, | ENST00000353170, ENST00000347925, ENST00000566349, ENST00000270583, | |
| Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 3 X 3 X 2=18 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PIEZO1 [Title/Abstract] AND KLHDC4 [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 | LD | SARC | TCGA-MB-A8JL-01A | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
| * 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 |
| Frame-shit | ENST00000301015 | ENST00000353170 | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
| Frame-shit | ENST00000301015 | ENST00000347925 | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
| 5CDS-5UTR | ENST00000301015 | ENST00000566349 | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
| 5CDS-5UTR | ENST00000301015 | ENST00000270583 | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
| intron-3CDS | ENST00000327397 | ENST00000353170 | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
| intron-3CDS | ENST00000327397 | ENST00000347925 | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
| intron-5UTR | ENST00000327397 | ENST00000566349 | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
| intron-5UTR | ENST00000327397 | ENST00000270583 | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
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FusionProtFeatures for PIEZO1_KLHDC4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIEZO1 | KLHDC4 |
| Pore-forming subunit of a mechanosensitive non-specificcation channel (PubMed:23479567, PubMed:23695678). Generatescurrents characterized by a linear current-voltage relationshipthat are sensitive to ruthenium red and gadolinium. Plays a keyrole in epithelial cell adhesion by maintaining integrinactivation through R-Ras recruitment to the ER, most probably inits activated state, and subsequent stimulation of calpainsignaling (PubMed:20016066). In the kidney, may contribute to thedetection of intraluminal pressure changes and to urine flowsensing. Acts as shear-stress sensor that promotes endothelialcell organization and alignment in the direction of blood flowthrough calpain activation (PubMed:25119035). Plays a key role inblood vessel formation and vascular structure in both developmentand adult physiology (By similarity).{ECO:0000250|UniProtKB:E2JF22, ECO:0000269|PubMed:20016066,ECO:0000269|PubMed:23479567, ECO:0000269|PubMed:23695678,ECO:0000269|PubMed:25119035}. |
| 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 PIEZO1_KLHDC4 |
| 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 PIEZO1_KLHDC4 |
| 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 |
| PIEZO1 | DSTN, SORD, TSPAN5, GJB2, RAB5C, RAB7A, VAPA, GOLT1B, CYP20A1, YIPF3, TRIM25 | KLHDC4 | TERF1, KDM1A, SUV39H1, SUV39H2, CEP76, SHMT2, MOV10, NXF1, CROT, RPS19 |
| - 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 PIEZO1_KLHDC4 |
| 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 PIEZO1_KLHDC4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PIEZO1 | C0272051 | Xerocytosis | 4 | ORPHANET;UNIPROT |
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