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Fusion gene ID: 27117 |
FusionGeneSummary for PIEZO1_KLHDC4 |
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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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 |
![]() * 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-shift | ENST00000301015 | ENST00000353170 | PIEZO1 | chr16 | 88815792 | - | KLHDC4 | chr16 | 87748179 | - |
Frame-shift | 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PIEZO1_KLHDC4 |
![]() (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 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PIEZO1 | C0272051 | Xerocytosis | 4 | ORPHANET;UNIPROT |