FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:PUM1-PIEZO1 (FusionGDB2 ID:70238)

Fusion Gene Summary for PUM1-PIEZO1

check button Fusion gene summary
Fusion gene informationFusion gene name: PUM1-PIEZO1
Fusion gene ID: 70238
HgeneTgene
Gene symbol

PUM1

PIEZO1

Gene ID

9698

9780

Gene namepumilio RNA binding family member 1piezo type mechanosensitive ion channel component 1
SynonymsHSPUM|PUMH|PUMH1|PUML1|SCA47DHS|FAM38A|LMPH3|LMPHM6|Mib
Cytomap

1p35.2

16q24.3

Type of geneprotein-codingprotein-coding
Descriptionpumilio homolog 1pumilio-1piezo-type mechanosensitive ion channel component 1family with sequence similarity 38, member Amembrane protein induced by beta-amyloid treatment
Modification date2020031320200313
UniProtAcc.

Q92508

Ensembl transtripts involved in fusion geneENST00000424085, ENST00000257075, 
ENST00000373747, ENST00000426105, 
ENST00000440538, ENST00000373741, 
ENST00000423018, ENST00000373742, 
ENST00000490546, 		ENST00000301015, 
ENST00000327397, 
Fusion gene scores* DoF score38 X 31 X 15=176706 X 4 X 2=48
# samples 566
** MAII scorelog2(56/17670*10)=-4.97973140249401
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PUM1 [Title/Abstract] AND PIEZO1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPUM1(31479841)-PIEZO1(88815887), # samples:1
Anticipated loss of major functional domain due to fusion event.PUM1-PIEZO1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PUM1-PIEZO1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgenePUM1

GO:0010608

posttranscriptional regulation of gene expression

25100735

HgenePUM1

GO:0043488

regulation of mRNA stability

26724866

HgenePUM1

GO:0051726

regulation of cell cycle

20818387

HgenePUM1

GO:0051983

regulation of chromosome segregation

26724866

HgenePUM1

GO:1900246

positive regulation of RIG-I signaling pathway

25340845

HgenePUM1

GO:2000637

positive regulation of gene silencing by miRNA

20818387|22345517


check buttonFusion gene breakpoints across PUM1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PIEZO1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-CD-8527-01APUM1chr1

31479841

-PIEZO1chr16

88815887

-


Top

Fusion Gene ORF analysis for PUM1-PIEZO1

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
intron-3CDSENST00000424085ENST00000301015PUM1chr1

31479841

-PIEZO1chr16

88815887

-
intron-intronENST00000424085ENST00000327397PUM1chr1

31479841

-PIEZO1chr16

88815887

-
Frame-shiftENST00000257075ENST00000301015PUM1chr1

31479841

-PIEZO1chr16

88815887

-
5CDS-intronENST00000257075ENST00000327397PUM1chr1

31479841

-PIEZO1chr16

88815887

-
Frame-shiftENST00000373747ENST00000301015PUM1chr1

31479841

-PIEZO1chr16

88815887

-
5CDS-intronENST00000373747ENST00000327397PUM1chr1

31479841

-PIEZO1chr16

88815887

-
Frame-shiftENST00000426105ENST00000301015PUM1chr1

31479841

-PIEZO1chr16

88815887

-
5CDS-intronENST00000426105ENST00000327397PUM1chr1

31479841

-PIEZO1chr16

88815887

-
Frame-shiftENST00000440538ENST00000301015PUM1chr1

31479841

-PIEZO1chr16

88815887

-
5CDS-intronENST00000440538ENST00000327397PUM1chr1

31479841

-PIEZO1chr16

88815887

-
In-frameENST00000373741ENST00000301015PUM1chr1

31479841

-PIEZO1chr16

88815887

-
5CDS-intronENST00000373741ENST00000327397PUM1chr1

31479841

-PIEZO1chr16

88815887

-
intron-3CDSENST00000423018ENST00000301015PUM1chr1

31479841

-PIEZO1chr16

88815887

-
intron-intronENST00000423018ENST00000327397PUM1chr1

31479841

-PIEZO1chr16

88815887

-
intron-3CDSENST00000373742ENST00000301015PUM1chr1

31479841

-PIEZO1chr16

88815887

-
intron-intronENST00000373742ENST00000327397PUM1chr1

31479841

-PIEZO1chr16

88815887

-
intron-3CDSENST00000490546ENST00000301015PUM1chr1

31479841

-PIEZO1chr16

88815887

-
intron-intronENST00000490546ENST00000327397PUM1chr1

31479841

-PIEZO1chr16

88815887

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000373741PUM1chr131479841-ENST00000301015PIEZO1chr1688815887-861685511383562747

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000373741ENST00000301015PUM1chr131479841-PIEZO1chr1688815887-0.0040152370.9959848

Top

Fusion Genomic Features for PUM1-PIEZO1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for PUM1-PIEZO1


check button Go to

FGviewer for the breakpoints of chr1:31479841-chr16:88815887

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q92508

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed:23479567, PubMed:23695678). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling (PubMed:20016066). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity). Acts as sensor of phosphatidylserine (PS) flipping at the plasma membrane and governs morphogenesis of muscle cells. In myoblasts, flippase-mediated PS enrichment at the inner leaflet of plasma membrane triggers channel activation and Ca2+ influx followed by Rho GTPases signal transduction, leading to assembly of cortical actomyosin fibers and myotube formation. {ECO:0000250|UniProtKB:E2JF22, ECO:0000269|PubMed:20016066, ECO:0000269|PubMed:23479567, ECO:0000269|PubMed:23695678, ECO:0000269|PubMed:25119035, ECO:0000269|PubMed:29799007}.

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
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511339_136821.3333333333333322522.0Coiled coilOntology_term=ECO:0000255
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150512198_243121.3333333333333322522.0Topological domainExtracellular
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511043_106321.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511160_118021.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511184_120421.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051118_13821.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511218_124021.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511247_126421.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511277_129721.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511678_169821.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511700_172021.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511734_175421.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051194_21421.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150511962_198221.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150512003_202321.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150512032_205221.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150512061_208121.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150512100_212221.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150512129_214921.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150512177_219721.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051218_23821.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150512432_245221.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051248_26821.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST0000030101505127_4721.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051302_32221.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051428_44821.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051460_48021.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051514_53421.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051579_59921.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051602_62221.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051629_64921.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST0000030101505164_8421.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051681_70121.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051823_84321.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051852_87221.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051926_94621.3333333333333322522.0TransmembraneHelical
TgenePIEZO1chr1:31479841chr16:88815887ENST00000301015051987_100721.3333333333333322522.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-422393_613180.333333333333341187.0Compositional biasNote=Ala-rich
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-422475_523180.333333333333341187.0Compositional biasNote=Gln-rich
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-422642_815180.333333333333341187.0Compositional biasNote=Ser-rich
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-422393_613180.333333333333341189.0Compositional biasNote=Ala-rich
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-422475_523180.333333333333341189.0Compositional biasNote=Gln-rich
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-422642_815180.333333333333341189.0Compositional biasNote=Ser-rich
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-422393_613180.333333333333341163.0Compositional biasNote=Ala-rich
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-422475_523180.333333333333341163.0Compositional biasNote=Gln-rich
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-422642_815180.333333333333341163.0Compositional biasNote=Ser-rich
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-422828_1168180.333333333333341187.0DomainPUM-HD
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-422828_1168180.333333333333341189.0DomainPUM-HD
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-422828_1168180.333333333333341163.0DomainPUM-HD
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-4221028_1063180.333333333333341187.0RepeatPumilio 6
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-4221064_1099180.333333333333341187.0RepeatPumilio 7
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-4221103_1142180.333333333333341187.0RepeatPumilio 8
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-422848_883180.333333333333341187.0RepeatPumilio 1
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-422884_919180.333333333333341187.0RepeatPumilio 2
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-422920_955180.333333333333341187.0RepeatPumilio 3
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-422956_991180.333333333333341187.0RepeatPumilio 4
HgenePUM1chr1:31479841chr16:88815887ENST00000257075-422992_1027180.333333333333341187.0RepeatPumilio 5
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-4221028_1063180.333333333333341189.0RepeatPumilio 6
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-4221064_1099180.333333333333341189.0RepeatPumilio 7
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-4221103_1142180.333333333333341189.0RepeatPumilio 8
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-422848_883180.333333333333341189.0RepeatPumilio 1
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-422884_919180.333333333333341189.0RepeatPumilio 2
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-422920_955180.333333333333341189.0RepeatPumilio 3
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-422956_991180.333333333333341189.0RepeatPumilio 4
HgenePUM1chr1:31479841chr16:88815887ENST00000426105-422992_1027180.333333333333341189.0RepeatPumilio 5
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-4221028_1063180.333333333333341163.0RepeatPumilio 6
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-4221064_1099180.333333333333341163.0RepeatPumilio 7
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-4221103_1142180.333333333333341163.0RepeatPumilio 8
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-422848_883180.333333333333341163.0RepeatPumilio 1
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-422884_919180.333333333333341163.0RepeatPumilio 2
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-422920_955180.333333333333341163.0RepeatPumilio 3
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-422956_991180.333333333333341163.0RepeatPumilio 4
HgenePUM1chr1:31479841chr16:88815887ENST00000440538-422992_1027180.333333333333341163.0RepeatPumilio 5
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150516_9121.3333333333333322522.0Compositional biasNote=Leu-rich
TgenePIEZO1chr1:31479841chr16:88815887ENST000003010150515_2521.3333333333333322522.0TransmembraneHelical


Top

Fusion Gene Sequence for PUM1-PIEZO1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000373741_ENST00000301015_TCGA-CD-8527-01A_PUM1_chr1_31479841_-_PIEZO1_chr16_88815887_length(transcript)=8616nt_BP=855nt
AACCCCGCGTGCCCAGCTCCAGGCCGTGTTCTCCCAGGTGCGGGCCGGCGGGACCCCGCCTTCGGCCCTGGCGGCGCGCGCTCGCCTAGC
GGGCGGGCACTCGCGCGCAGCGTTTGTGTTGCCTGCGAGTTTCCCGAGTTCACACAGGCCCTGGGTTGGCATGGCAACCAGGCAACCTGT
TCCAGAGCCGCCAGCCTTCTCCGCACATGCCGCTGCCACCGCCGGGGCCGGGGCCGGAGCCTATCCCAGGATGCACCGCGCCAACCCAGT
CCCCAGTGGGCCGCCATGTTGTCGGAGTGAAAGGTGTTGGTGGAATGAGCGTTGCATGTGTCTTGAAGAGAAAAGCAGTGCTTTGGCAGG
ACTCTTTCAGCCCCCACCTGAAACATCACCCTCAAGAACCAGCTAATCCCAACATGCCTGTTGTTTTGACATCTGGAACAGGGTCGCAAG
CGCAGCCACAACCAGCTGCAAATCAGGCTCTTGCAGCTGGGACTCACTCCAGCCCTGTCCCAGGATCTATAGGAGTTGCAGGCCGTTCCC
AGGACGACGCTATGGTGGACTACTTCTTTCAGAGGCAGCATGGTGAGCAGCTTGGGGGAGGAGGAAGTGGAGGAGGCGGCTATAATAATA
GCAAACATCGATGGCCTACTGGGGATAACATTCATGCAGAACATCAGGTGCGTTCCATGGATGAACTGAATCATGATTTTCAAGCACTTG
CTCTGGAGGGAAGAGCGATGGGAGAGCAGCTCTTGCCAGGTAAAAAGTTTTGGGAAACAGATGAATCCAGCAAAGATGGACCAAAAGGAA
TATTCCTGGGTGATCAATGGCGAGACAGTGCCTGGGGAACATCAGCCTGCCTGCTCCGCTTCAGCGGACTCTCGCTGGTCTACCTGCTCT
TCCTGCTGCTGCTGCCCTGGTTCCCCGGCCCCACCCGATGCGGCCTCCAAGGTCACACAGGCCGCCTCCTGCGGGCATTGCTGGGCCTCA
GCCTGCTCTTCCTGGTGGCCCATCTCGCCCTCCAGATCTGCCTGCATATTGTGCCCCGCCTGGACCAGCTCCTGGGACCCAGCTGCAGCC
GCTGGGAGACCCTCTCGCGACACATAGGGGTCACAAGGCTGGACCTGAAGGACATCCCCAACGCCATCCGGCTGGTGGCCCCTGACCTGG
GCATCTTGGTGGTCTCCTCTGTCTGCCTCGGCATCTGCGGGCGCCTTGCAAGGAACACCCGGCAGAGCCCACATCCACGGGAGCTGGATG
ATGATGAGAGGGATGTGGATGCCAGCCCGACGGCAGGGCTGCAGGAAGCAGCAACGCTGGCCCCTACACGGAGGTCACGGCTGGCCGCTC
GTTTCCGAGTCACGGCCCACTGGCTGCTGGTGGCGGCTGGGCGGGTCCTGGCCGTAACACTGCTTGCACTGGCAGGCATCGCCCACCCCT
CGGCCCTCTCCAGTGTCTACCTGCTGCTCTTCCTGGCCCTCTGCACCTGGTGGGCCTGCCACTTTCCCATCAGCACTCGGGGCTTCAGCA
GACTCTGCGTCGCGGTGGGGTGCTTCGGCGCCGGCCATCTCATCTGCCTCTACTGCTACCAGATGCCCTTGGCACAGGCTCTGCTCCCGC
CTGCCGGCATCTGGGCTAGGGTGCTGGGTCTCAAGGACTTCGTGGGTCCCACCAACTGCTCCAGCCCCCACGCGCTGGTCCTCAACACCG
GCCTGGACTGGCCTGTGTATGCCAGCCCCGGCGTCCTCCTGCTGCTGTGCTACGCCACGGCCTCTCTGCGCAAGCTCCGCGCGTACCGCC
CCTCCGGCCAGAGGAAGGAGGCGGCAAAGGGGTATGAGGCTCGGGAGCTGGAGCTAGCAGAGCTGGACCAGTGGCCCCAGGAACGGGAGT
CTGACCAGCACGTGGTGCCCACAGCACCCGACACCGAGGCTGATAACTGCATCGTGCACGAGCTGACCGGCCAGAGCTCCGTCCTGCGGC
GGCCTGTGCGGCCCAAGCGGGCTGAGCCCAGGGAGGCGTCTCCGCTCCACAGCCTGGGCCACCTCATCATGGACCAGAGCTATGTGTGCG
CGCTCATTGCCATGATGGTATGGAGCATCACCTACCACAGCTGGCTGACCTTCGTACTGCTGCTCTGGGCCTGCCTCATCTGGACGGTGC
GCAGCCGCCACCAACTGGCCATGCTGTGCTCGCCCTGCATCCTGCTGTATGGGATGACGCTGTGCTGCCTACGCTACGTGTGGGCCATGG
ACCTGCGCCCTGAGCTGCCCACCACCCTGGGCCCCGTCAGCCTGCGCCAGCTGGGGCTGGAGCACACCCGCTACCCCTGTCTGGACCTTG
GTGCCATGTTGCTCTACACCCTGACCTTCTGGCTCCTGCTGCGCCAGTTTGTGAAAGAGAAGCTGCTGAAGTGGGCAGAGTCTCCAGCTG
CGCTGACGGAGGTCACCGTGGCAGACACAGAGCCCACGCGGACGCAGACGCTGTTGCAGAGCCTGGGGGAGCTGGTGAAGGGCGTGTACG
CCAAGTACTGGATCTATGTGTGTGCTGGCATGTTCATCGTGGTCAGCTTCGCCGGCCGCCTCGTGGTCTACAAGATTGTCTACATGTTCC
TCTTCCTGCTCTGCCTCACCCTCTTCCAGGTCTACTACAGCCTGTGGCGGAAGCTGCTCAAGGCCTTCTGGTGGCTCGTGGTGGCCTACA
CCATGCTGGTCCTCATCGCCGTCTACACCTTCCAGTTCCAGGACTTCCCTGCCTACTGGCGCAACCTCACTGGCTTCACCGACGAGCAGC
TGGGGGACCTGGGCCTGGAGCAGTTCAGCGTGTCCGAGCTCTTCTCCAGCATCCTGGTGCCCGGCTTCTTCCTCCTGGCCTGCATCCTGC
AGCTGCACTACTTCCACAGGCCCTTCATGCAGCTCACCGACATGGAGCACGTGTCCCTGCCTGGCACGCGCCTCCCGCGCTGGGCTCACA
GGCAGGATGCAGTGAGTGGGACCCCACTGCTGCGGGAGGAGCAGCAGGAGCATCAGCAGCAGCAGCAGGAGGAGGAGGAGGAGGAGGAGG
ACTCCAGGGACGAGGGGCTGGGCGTGGCCACTCCCCACCAGGCCACGCAGGTGCCTGAAGGGGCAGCCAAGTGGGGCCTGGTGGCTGAGC
GGCTGCTGGAGCTGGCAGCCGGCTTCTCGGACGTCCTCTCACGCGTGCAGGTGTTCCTGCGGCGGCTGCTGGAGCTTCACGTTTTCAAGC
TGGTGGCCCTGTACACCGTCTGGGTGGCCCTGAAGGAGGTGTCGGTGATGAACCTGCTGCTGGTGGTGCTGTGGGCCTTCGCCCTGCCCT
ACCCACGCTTCCGGCCCATGGCCTCCTGCCTGTCCACCGTGTGGACCTGCGTCATCATCGTGTGTAAGATGCTGTACCAGCTCAAGGTTG
TCAACCCCCAGGAGTATTCCAGCAACTGCACCGAGCCCTTCCCCAACAGCACCAACTTGCTGCCCACGGAGATCAGCCAGTCCCTGCTGT
ACCGGGGGCCCGTGGACCCTGCCAACTGGTTTGGGGTGCGGAAAGGGTTCCCCAACCTGGGCTACATCCAGAACCACCTGCAAGTGCTGC
TGCTGCTGGTATTCGAGGCCATCGTGTACCGGCGCCAGGAGCACTACCGCCGGCAGCACCAGCTGGCCCCGCTGCCTGCCCAGGCCGTGT
TTGCCAGCGGCACCCGCCAGCAGCTGGACCAGGATCTGCTCGGCTGCCTCAAGTACTTCATCAACTTCTTCTTCTACAAATTCGGGCTGG
AGATCTGCTTCCTGATGGCCGTGAACGTGATCGGGCAGCGCATGAACTTTCTGGTGACCCTGCACGGTTGCTGGCTGGTGGCCATCCTCA
CCCGCAGGCACCGCCAGGCCATTGCCCGCCTCTGGCCCAACTACTGCCTCTTCCTGGCGCTGTTCCTGCTGTACCAGTACCTGCTGTGCC
TGGGGATGCCCCCGGCCCTGTGCATTGATTATCCCTGGCGCTGGAGCCGGGCCGTCCCCATGAACTCCGCACTCATCAAGTGGCTGTACC
TGCCTGATTTCTTCCGGGCCCCCAACTCCACCAACCTCATCAGCGACTTTCTCCTGCTGCTGTGCGCCTCCCAGCAGTGGCAGGTGTTCT
CAGCTGAGCGCACAGAGGAGTGGCAGCGCATGGCTGGCGTCAACACCGACCGCCTGGAGCCGCTGCGGGGGGAGCCCAACCCCGTGCCCA
ACTTTATCCACTGCAGGTCCTACCTTGACATGCTGAAGGTGGCCGTCTTCCGATACCTGTTCTGGCTGGTGCTGGTGGTGGTGTTTGTCA
CGGGGGCCACCCGCATCAGCATCTTCGGGCTGGGCTACCTGCTGGCCTGCTTCTACCTGCTGCTCTTCGGCACGGCCCTGCTGCAGAGGG
ACACACGGGCCCGCCTCGTGCTGTGGGACTGCCTCATTCTGTACAACGTCACCGTCATCATCTCCAAGAACATGCTGTCGCTCCTGGCCT
GCGTCTTCGTGGAGCAGATGCAGACCGGCTTCTGCTGGGTCATCCAGCTCTTCAGCCTTGTATGCACCGTCAAGGGCTACTATGACCCCA
AGGAGATGATGGACAGAGACCAGGACTGCCTGCTGCCTGTGGAGGAGGCTGGCATCATCTGGGACAGCGTCTGCTTCTTCTTCCTGCTGC
TGCAGCGCCGCGTCTTCCTTAGCCATTACTACCTGCACGTCAGGGCCGACCTCCAGGCCACCGCCCTGCTAGCCTCCAGGGGCTTCGCCC
TCTACAACGCTGCCAACCTCAAGAGCATTGACTTTCACCGCAGGATAGAGGAGAAGTCCCTGGCCCAGCTGAAAAGACAGATGGAGCGTA
TCCGTGCCAAGCAGGAGAAGCACAGGCAGGGCCGGGTGGACCGCAGTCGCCCCCAGGACACCCTGGGCCCCAAGGACCCCGGCCTGGAGC
CAGGGCCCGACAGTCCAGGGGGCTCCTCCCCGCCACGGAGGCAGTGGTGGCGGCCCTGGCTGGACCACGCCACAGTCATCCACTCCGGGG
ACTACTTCCTGTTTGAGTCCGACAGTGAGGAAGAGGAGGAGGCTGTTCCTGAAGACCCGAGGCCGTCGGCACAGAGTGCCTTCCAGCTGG
CGTACCAGGCATGGGTGACCAACGCCCAGGCGGTGCTGAGGCGGCGGCAGCAGGAGCAGGAGCAGGCAAGGCAGGAACAGGCAGGACAGC
TACCCACAGGAGGTGGTCCCAGCCAGGAGGTGGAGCCAGCAGAGGGCCCCGAGGAGGCAGCGGCAGGCCGGAGCCATGTGGTGCAGAGGG
TGCTGAGCACGGCGCAGTTCCTGTGGATGCTGGGGCAGGCGCTAGTGGATGAGCTGACACGCTGGCTGCAGGAGTTCACCCGGCACCACG
GCACCATGAGCGACGTGCTGCGGGCAGAGCGCTACCTCCTCACACAGGAGCTCCTGCAGGGCGGCGAAGTGCACAGGGGCGTGCTGGATC
AGCTGTACACAAGCCAGGCCGAGGCCACGCTGCCAGGCCCCACCGAGGCCCCCAATGCCCCAAGCACCGTGTCCAGTGGGCTGGGCGCGG
AGGAGCCACTCAGCAGCATGACAGACGACATGGGCAGCCCCCTGAGCACCGGCTACCACACGCGCAGTGGCAGTGAGGAGGCAGTCACCG
ACCCCGGGGAGCGTGAGGCTGGTGCCTCTCTGTACCAGGGACTGATGCGGACGGCCAGCGAGCTGCTCCTGGACAGGCGCCTGCGCATCC
CAGAGCTGGAGGAGGCAGAGCTGTTTGCGGAGGGGCAGGGCCGGGCGCTGCGGCTGCTGCGGGCCGTGTACCAGTGTGTGGCCGCCCACT
CGGAGCTGCTCTGCTACTTCATCATCATCCTCAACCACATGGTCACGGCCTCCGCCGGCTCGCTGGTGCTGCCCGTGCTCGTCTTCCTGT
GGGCCATGCTGTCGATCCCGAGGCCCAGCAAGCGCTTCTGGATGACGGCCATCGTCTTCACCGAGATCGCGGTGGTCGTCAAGTACCTGT
TCCAGTTTGGGTTCTTCCCCTGGAACAGCCACGTGGTGCTGCGGCGCTACGAGAACAAGCCCTACTTCCCGCCCCGCATCCTGGGCCTGG
AGAAGACTGACGGCTACATCAAGTACGACCTGGTGCAGCTCATGGCCCTTTTCTTCCACCGCTCCCAGCTGCTGTGCTATGGCCTCTGGG
ACCATGAGGAGGACTCACCATCCAAGGAGCATGACAAGAGCGGCGAGGAGGAGCAGGGAGCCGAGGAGGGGCCAGGGGTGCCTGCGGCCA
CCACCGAAGACCACATTCAGGTGGAAGCCAGGGTCGGACCCACGGACGGGACCCCAGAACCCCAAGTGGAGCTCAGGCCCCGTGATACGA
GGCGCATCAGTCTACGTTTTAGAAGAAGGAAGAAGGAGGGCCCAGCACGGAAAGGAGCGGCAGCCATCGAAGCTGAGGACAGGGAGGAAG
AAGAGGGGGAGGAAGAGAAAGAGGCCCCCACGGGGAGAGAGAAGAGGCCAAGCCGCTCTGGAGGAAGAGTAAGGGCGGCCGGGCGGCGGC
TGCAGGGCTTCTGCCTGTCCCTGGCCCAGGGCACATATCGGCCGCTACGGCGCTTCTTCCACGACATCCTGCACACCAAGTACCGCGCAG
CCACCGACGTCTATGCCCTCATGTTCCTGGCTGATGTTGTCGACTTCATCATCATCATTTTTGGCTTCTGGGCCTTTGGGAAGCACTCGG
CGGCCACAGACATCACGTCCTCCCTATCAGACGACCAGGTACCCGAGGCTTTCCTGGTCATGCTGCTGATCCAGTTCAGTACCATGGTGG
TTGACCGCGCCCTCTACCTGCGCAAGACCGTGCTGGGCAAGCTGGCCTTCCAGGTGGCGCTGGTGCTGGCCATCCACCTATGGATGTTCT
TCATCCTGCCCGCCGTCACTGAGAGGATGTTCAACCAGAATGTGGTGGCCCAGCTCTGGTACTTCGTGAAGTGCATCTACTTCGCCCTGT
CCGCCTACCAGATCCGCTGCGGCTACCCCACCCGCATCCTCGGCAACTTCCTCACCAAGAAGTACAATCATCTCAACCTCTTCCTCTTCC
AGGGGTTCCGGCTGGTGCCGTTCCTGGTGGAGCTGCGGGCAGTGATGGACTGGGTGTGGACGGACACCACGCTGTCCCTGTCCAGCTGGA
TGTGTGTGGAGGACATCTATGCCAACATCTTCATCATCAAATGCAGCCGAGAGACAGAGAAGAAATACCCGCAGCCCAAAGGGCAGAAGA
AGAAGAAGATCGTCAAGTACGGCATGGGTGGCCTCATCATCCTCTTCCTCATCGCCATCATCTGGTTCCCACTGCTCTTCATGTCGCTGG
TGCGCTCCGTGGTTGGGGTTGTCAACCAGCCCATCGATGTCACCGTCACCCTGAAGCTGGGCGGCTATGAGCCGCTGTTCACCATGAGCG
CCCAGCAGCCGTCCATCATCCCCTTCACGGCCCAGGCCTATGAGGAGCTGTCCCGGCAGTTTGACCCCCAGCCGCTGGCCATGCAGTTCA
TCAGCCAGTACAGCCCTGAGGACATCGTCACGGCGCAGATTGAGGGCAGCTCCGGGGCGCTGTGGCGCATCAGTCCCCCCAGCCGTGCCC
AGATGAAGCGGGAGCTCTACAACGGCACGGCCGACATCACCCTGCGCTTCACCTGGAACTTCCAGAGGGACCTGGCGAAGGGAGGCACTG
TGGAGTATGCCAACGAGAAGCACATGCTGGCCCTGGCCCCCAACAGCACTGCACGGCGGCAGCTGGCCAGCCTGCTCGAGGGCACCTCGG
ACCAGTCTGTGGTCATCCCTAATCTCTTCCCCAAGTACATCCGTGCCCCCAACGGGCCCGAAGCCAACCCTGTGAAGCAGCTGCAGCCCA
ATGAGGAGGCCGACTACCTCGGCGTGCGTATCCAGCTGCGGAGGGAGCAGGGTGCGGGGGCCACCGGCTTCCTCGAATGGTGGGTCATCG
AGCTGCAGGAGTGCCGGACCGACTGCAACCTGCTGCCCATGGTCATTTTCAGTGACAAGGTCAGCCCACCGAGCCTCGGCTTCCTGGCTG
GCTACGGCATCATGGGGCTGTACGTGTCCATCGTGCTGGTCATCGGCAAGTTCGTGCGCGGATTCTTCAGCGAGATCTCGCACTCCATTA
TGTTCGAGGAGCTGCCGTGCGTGGACCGCATCCTCAAGCTCTGCCAGGACATCTTCCTGGTGCGGGAGACTCGGGAGCTGGAGCTGGAGG
AGGAGTTGTACGCCAAGCTCATCTTCCTCTACCGCTCACCGGAGACCATGATCAAGTGGACTCGTGAGAAGGAGTAGGAGCTGCTGCTGG
CGCCCGAGAGGGAAGGAGCCGGCCTGCTGGGCAGCGTGGCCACAAGGGGCGGCACTCCTCAGGCCGGGGGAGCCACTGCCCCGTCCAAGG
CCGCCAGCTGTGATGCATCCTCCCGGCCTGCCTGAGCCCTGATGCTGCTGTCAGAGAAGGACACTGCGTCCCCACGGCCTGCGTGGCGCT

>In-frame_ENST00000373741_ENST00000301015_TCGA-CD-8527-01A_PUM1_chr1_31479841_-_PIEZO1_chr16_88815887_length(amino acids)=2747AA_start in transcript=113_stop in transcript=8356
MCCLRVSRVHTGPGLAWQPGNLFQSRQPSPHMPLPPPGPGPEPIPGCTAPTQSPVGRHVVGVKGVGGMSVACVLKRKAVLWQDSFSPHLK
HHPQEPANPNMPVVLTSGTGSQAQPQPAANQALAAGTHSSPVPGSIGVAGRSQDDAMVDYFFQRQHGEQLGGGGSGGGGYNNSKHRWPTG
DNIHAEHQVRSMDELNHDFQALALEGRAMGEQLLPGKKFWETDESSKDGPKGIFLGDQWRDSAWGTSACLLRFSGLSLVYLLFLLLLPWF
PGPTRCGLQGHTGRLLRALLGLSLLFLVAHLALQICLHIVPRLDQLLGPSCSRWETLSRHIGVTRLDLKDIPNAIRLVAPDLGILVVSSV
CLGICGRLARNTRQSPHPRELDDDERDVDASPTAGLQEAATLAPTRRSRLAARFRVTAHWLLVAAGRVLAVTLLALAGIAHPSALSSVYL
LLFLALCTWWACHFPISTRGFSRLCVAVGCFGAGHLICLYCYQMPLAQALLPPAGIWARVLGLKDFVGPTNCSSPHALVLNTGLDWPVYA
SPGVLLLLCYATASLRKLRAYRPSGQRKEAAKGYEARELELAELDQWPQERESDQHVVPTAPDTEADNCIVHELTGQSSVLRRPVRPKRA
EPREASPLHSLGHLIMDQSYVCALIAMMVWSITYHSWLTFVLLLWACLIWTVRSRHQLAMLCSPCILLYGMTLCCLRYVWAMDLRPELPT
TLGPVSLRQLGLEHTRYPCLDLGAMLLYTLTFWLLLRQFVKEKLLKWAESPAALTEVTVADTEPTRTQTLLQSLGELVKGVYAKYWIYVC
AGMFIVVSFAGRLVVYKIVYMFLFLLCLTLFQVYYSLWRKLLKAFWWLVVAYTMLVLIAVYTFQFQDFPAYWRNLTGFTDEQLGDLGLEQ
FSVSELFSSILVPGFFLLACILQLHYFHRPFMQLTDMEHVSLPGTRLPRWAHRQDAVSGTPLLREEQQEHQQQQQEEEEEEEDSRDEGLG
VATPHQATQVPEGAAKWGLVAERLLELAAGFSDVLSRVQVFLRRLLELHVFKLVALYTVWVALKEVSVMNLLLVVLWAFALPYPRFRPMA
SCLSTVWTCVIIVCKMLYQLKVVNPQEYSSNCTEPFPNSTNLLPTEISQSLLYRGPVDPANWFGVRKGFPNLGYIQNHLQVLLLLVFEAI
VYRRQEHYRRQHQLAPLPAQAVFASGTRQQLDQDLLGCLKYFINFFFYKFGLEICFLMAVNVIGQRMNFLVTLHGCWLVAILTRRHRQAI
ARLWPNYCLFLALFLLYQYLLCLGMPPALCIDYPWRWSRAVPMNSALIKWLYLPDFFRAPNSTNLISDFLLLLCASQQWQVFSAERTEEW
QRMAGVNTDRLEPLRGEPNPVPNFIHCRSYLDMLKVAVFRYLFWLVLVVVFVTGATRISIFGLGYLLACFYLLLFGTALLQRDTRARLVL
WDCLILYNVTVIISKNMLSLLACVFVEQMQTGFCWVIQLFSLVCTVKGYYDPKEMMDRDQDCLLPVEEAGIIWDSVCFFFLLLQRRVFLS
HYYLHVRADLQATALLASRGFALYNAANLKSIDFHRRIEEKSLAQLKRQMERIRAKQEKHRQGRVDRSRPQDTLGPKDPGLEPGPDSPGG
SSPPRRQWWRPWLDHATVIHSGDYFLFESDSEEEEEAVPEDPRPSAQSAFQLAYQAWVTNAQAVLRRRQQEQEQARQEQAGQLPTGGGPS
QEVEPAEGPEEAAAGRSHVVQRVLSTAQFLWMLGQALVDELTRWLQEFTRHHGTMSDVLRAERYLLTQELLQGGEVHRGVLDQLYTSQAE
ATLPGPTEAPNAPSTVSSGLGAEEPLSSMTDDMGSPLSTGYHTRSGSEEAVTDPGEREAGASLYQGLMRTASELLLDRRLRIPELEEAEL
FAEGQGRALRLLRAVYQCVAAHSELLCYFIIILNHMVTASAGSLVLPVLVFLWAMLSIPRPSKRFWMTAIVFTEIAVVVKYLFQFGFFPW
NSHVVLRRYENKPYFPPRILGLEKTDGYIKYDLVQLMALFFHRSQLLCYGLWDHEEDSPSKEHDKSGEEEQGAEEGPGVPAATTEDHIQV
EARVGPTDGTPEPQVELRPRDTRRISLRFRRRKKEGPARKGAAAIEAEDREEEEGEEEKEAPTGREKRPSRSGGRVRAAGRRLQGFCLSL
AQGTYRPLRRFFHDILHTKYRAATDVYALMFLADVVDFIIIIFGFWAFGKHSAATDITSSLSDDQVPEAFLVMLLIQFSTMVVDRALYLR
KTVLGKLAFQVALVLAIHLWMFFILPAVTERMFNQNVVAQLWYFVKCIYFALSAYQIRCGYPTRILGNFLTKKYNHLNLFLFQGFRLVPF
LVELRAVMDWVWTDTTLSLSSWMCVEDIYANIFIIKCSRETEKKYPQPKGQKKKKIVKYGMGGLIILFLIAIIWFPLLFMSLVRSVVGVV
NQPIDVTVTLKLGGYEPLFTMSAQQPSIIPFTAQAYEELSRQFDPQPLAMQFISQYSPEDIVTAQIEGSSGALWRISPPSRAQMKRELYN
GTADITLRFTWNFQRDLAKGGTVEYANEKHMLALAPNSTARRQLASLLEGTSDQSVVIPNLFPKYIRAPNGPEANPVKQLQPNEEADYLG
VRIQLRREQGAGATGFLEWWVIELQECRTDCNLLPMVIFSDKVSPPSLGFLAGYGIMGLYVSIVLVIGKFVRGFFSEISHSIMFEELPCV

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for PUM1-PIEZO1


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


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


Top

Related Drugs for PUM1-PIEZO1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for PUM1-PIEZO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePUM1C0004134Ataxia1GENOMICS_ENGLAND
HgenePUM1C0010417Cryptorchidism1GENOMICS_ENGLAND
HgenePUM1C0019193Hepatitis, Toxic1CTD_human
HgenePUM1C0036572Seizures1GENOMICS_ENGLAND
HgenePUM1C0557874Global developmental delay1GENOMICS_ENGLAND
HgenePUM1C0860207Drug-Induced Liver Disease1CTD_human
HgenePUM1C1262760Hepatitis, Drug-Induced1CTD_human
HgenePUM1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgenePUM1C3714756Intellectual Disability1GENOMICS_ENGLAND
HgenePUM1C4025871Abnormality of the face1GENOMICS_ENGLAND
HgenePUM1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgenePUM1C4279912Chemically-Induced Liver Toxicity1CTD_human
HgenePUM1C4693672SPINOCEREBELLAR ATAXIA 471GENOMICS_ENGLAND;UNIPROT
TgenePIEZO1C4551512DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA7GENOMICS_ENGLAND;UNIPROT
TgenePIEZO1C4225184LYMPHATIC MALFORMATION 64CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePIEZO1C0272051Xerocytosis3GENOMICS_ENGLAND;ORPHANET
TgenePIEZO1C0272048stomatocytic anemia2GENOMICS_ENGLAND
TgenePIEZO1C0677598Stomatocytosis Result2GENOMICS_ENGLAND