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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PEX14-CASZ1 (FusionGDB2 ID:63943)

Fusion Gene Summary for PEX14-CASZ1

check button Fusion gene summary
Fusion gene informationFusion gene name: PEX14-CASZ1
Fusion gene ID: 63943
HgeneTgene
Gene symbol

PEX14

CASZ1

Gene ID

5195

54897

Gene nameperoxisomal biogenesis factor 14castor zinc finger 1
SynonymsNAPP2|PBD13A|Pex14p|dJ734G22.2CAS11|CST|SRG|ZNF693|dJ734G22.1
Cytomap

1p36.22

1p36.22

Type of geneprotein-codingprotein-coding
Descriptionperoxisomal membrane protein PEX14NF-E2 associated polypeptide 2PTS1 receptor docking proteinperoxin-14peroxisomal membrane anchor protein PEX14peroxisomal membrane anchor protein Pex14pzinc finger protein castor homolog 1castor homolog 1, zinc fingercastor-related proteinsurvival-relatedzinc finger protein 693
Modification date2020031320200313
UniProtAcc.

Q86V15

Ensembl transtripts involved in fusion geneENST00000356607, ENST00000538836, 
ENST00000492696, 		ENST00000377022, 
ENST00000344008, ENST00000478728, 
Fusion gene scores* DoF score9 X 7 X 9=5676 X 7 X 5=210
# samples 137
** MAII scorelog2(13/567*10)=-2.12483711191377
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PEX14 [Title/Abstract] AND CASZ1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPEX14(10683173)-CASZ1(10856707), # samples:1
PEX14(10590064)-CASZ1(10712789), # samples:1
Anticipated loss of major functional domain due to fusion event.PEX14-CASZ1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
PEX14-CASZ1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgenePEX14

GO:0016561

protein import into peroxisome matrix, translocation

21525035

HgenePEX14

GO:0032091

negative regulation of protein binding

21976670

HgenePEX14

GO:0034453

microtubule anchoring

21525035

HgenePEX14

GO:0036250

peroxisome transport along microtubule

21525035

HgenePEX14

GO:0043433

negative regulation of DNA-binding transcription factor activity

11863372

HgenePEX14

GO:0044721

protein import into peroxisome matrix, substrate release

21976670

HgenePEX14

GO:0045892

negative regulation of transcription, DNA-templated

11863372

HgenePEX14

GO:0065003

protein-containing complex assembly

21525035

TgeneCASZ1

GO:0045893

positive regulation of transcription, DNA-templated

27693370


check buttonFusion gene breakpoints across PEX14 (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 CASZ1 (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
ChimerDB4HNSCTCGA-T2-A6X0-01APEX14chr1

10683173

+CASZ1chr1

10856707

-
ChimerDB4PRADTCGA-KC-A4BV-01APEX14chr1

10590064

+CASZ1chr1

10712789

+


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Fusion Gene ORF analysis for PEX14-CASZ1

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-shiftENST00000356607ENST00000377022PEX14chr1

10683173

+CASZ1chr1

10856707

-
Frame-shiftENST00000356607ENST00000344008PEX14chr1

10683173

+CASZ1chr1

10856707

-
5CDS-intronENST00000356607ENST00000478728PEX14chr1

10683173

+CASZ1chr1

10856707

-
Frame-shiftENST00000538836ENST00000377022PEX14chr1

10683173

+CASZ1chr1

10856707

-
Frame-shiftENST00000538836ENST00000344008PEX14chr1

10683173

+CASZ1chr1

10856707

-
5CDS-intronENST00000538836ENST00000478728PEX14chr1

10683173

+CASZ1chr1

10856707

-
intron-3CDSENST00000492696ENST00000377022PEX14chr1

10683173

+CASZ1chr1

10856707

-
intron-3CDSENST00000492696ENST00000344008PEX14chr1

10683173

+CASZ1chr1

10856707

-
intron-intronENST00000492696ENST00000478728PEX14chr1

10683173

+CASZ1chr1

10856707

-
intron-intronENST00000356607ENST00000377022PEX14chr1

10590064

+CASZ1chr1

10712789

+
intron-intronENST00000356607ENST00000344008PEX14chr1

10590064

+CASZ1chr1

10712789

+
intron-intronENST00000356607ENST00000478728PEX14chr1

10590064

+CASZ1chr1

10712789

+
intron-intronENST00000538836ENST00000377022PEX14chr1

10590064

+CASZ1chr1

10712789

+
intron-intronENST00000538836ENST00000344008PEX14chr1

10590064

+CASZ1chr1

10712789

+
intron-intronENST00000538836ENST00000478728PEX14chr1

10590064

+CASZ1chr1

10712789

+
intron-intronENST00000492696ENST00000377022PEX14chr1

10590064

+CASZ1chr1

10712789

+
intron-intronENST00000492696ENST00000344008PEX14chr1

10590064

+CASZ1chr1

10712789

+
intron-intronENST00000492696ENST00000478728PEX14chr1

10590064

+CASZ1chr1

10712789

+

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)

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

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Fusion Genomic Features for PEX14-CASZ1


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.

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Fusion Protein Features for PEX14-CASZ1


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.CASZ1

Q86V15

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: Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441). {ECO:0000269|PubMed:23639441, ECO:0000269|PubMed:27693370}.

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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Fusion Gene Sequence for PEX14-CASZ1


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.

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Fusion Gene PPI Analysis for PEX14-CASZ1


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


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Related Drugs for PEX14-CASZ1


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

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Related Diseases for PEX14-CASZ1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePEX14C3554004PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)5CTD_human;GENOMICS_ENGLAND
HgenePEX14C1832200Peroxisome biogenesis disorders4CTD_human;GENOMICS_ENGLAND
HgenePEX14C0043459Zellweger Syndrome2CTD_human;GENOMICS_ENGLAND
HgenePEX14C0751594Zellweger-Like Syndrome2CTD_human
HgenePEX14C3658299Zellweger Spectrum2CTD_human
HgenePEX14C0010093Corpus Luteum Cyst1CTD_human
HgenePEX14C0029927Ovarian Cysts1CTD_human
TgeneCASZ1C0004238Atrial Fibrillation2CTD_human
TgeneCASZ1C0235480Paroxysmal atrial fibrillation2CTD_human
TgeneCASZ1C2585653Persistent atrial fibrillation2CTD_human
TgeneCASZ1C3468561familial atrial fibrillation2CTD_human
TgeneCASZ1C0033578Prostatic Neoplasms1CTD_human
TgeneCASZ1C0038454Cerebrovascular accident1CTD_human
TgeneCASZ1C0376358Malignant neoplasm of prostate1CTD_human
TgeneCASZ1C0751956Acute Cerebrovascular Accidents1CTD_human