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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 27117

FusionGeneSummary for PIEZO1_KLHDC4

check button Fusion gene summary
Fusion gene informationFusion gene name: PIEZO1_KLHDC4
Fusion gene ID: 27117
HgeneTgene
Gene symbol

PIEZO1

KLHDC4

Gene ID

9780

54758

Gene namepiezo type mechanosensitive ion channel component 1kelch domain containing 4
SynonymsDHS|FAM38A|LMPH3|Mib-
Cytomap

16q24.3

16q24.2

Type of geneprotein-codingprotein-coding
Descriptionpiezo-type mechanosensitive ion channel component 1family with sequence similarity 38, member Amembrane protein induced by beta-amyloid treatmentkelch domain-containing protein 4
Modification date2018052320180519
UniProtAcc

Q92508

Q8TBB5

Ensembl transtripts involved in fusion geneENST00000301015, ENST00000327397, 
ENST00000353170, ENST00000347925, 
ENST00000566349, ENST00000270583, 
Fusion gene scores* DoF score7 X 6 X 5=2103 X 3 X 2=18
# samples 73
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSARCTCGA-MB-A8JL-01APIEZO1chr16

88815792

-KLHDC4chr16

87748179

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000301015ENST00000353170PIEZO1chr16

88815792

-KLHDC4chr16

87748179

-
Frame-shitENST00000301015ENST00000347925PIEZO1chr16

88815792

-KLHDC4chr16

87748179

-
5CDS-5UTRENST00000301015ENST00000566349PIEZO1chr16

88815792

-KLHDC4chr16

87748179

-
5CDS-5UTRENST00000301015ENST00000270583PIEZO1chr16

88815792

-KLHDC4chr16

87748179

-
intron-3CDSENST00000327397ENST00000353170PIEZO1chr16

88815792

-KLHDC4chr16

87748179

-
intron-3CDSENST00000327397ENST00000347925PIEZO1chr16

88815792

-KLHDC4chr16

87748179

-
intron-5UTRENST00000327397ENST00000566349PIEZO1chr16

88815792

-KLHDC4chr16

87748179

-
intron-5UTRENST00000327397ENST00000270583PIEZO1chr16

88815792

-KLHDC4chr16

87748179

-

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FusionProtFeatures for PIEZO1_KLHDC4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PIEZO1

Q92508

KLHDC4

Q8TBB5

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PIEZO1_KLHDC4


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PIEZO1DSTN, SORD, TSPAN5, GJB2, RAB5C, RAB7A, VAPA, GOLT1B, CYP20A1, YIPF3, TRIM25KLHDC4TERF1, KDM1A, SUV39H1, SUV39H2, CEP76, SHMT2, MOV10, NXF1, CROT, RPS19


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PIEZO1_KLHDC4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PIEZO1_KLHDC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIEZO1C0272051Xerocytosis4ORPHANET;UNIPROT