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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: 26703

FusionGeneSummary for PEX14_CASZ1

check button Fusion gene summary
Fusion gene informationFusion gene name: PEX14_CASZ1
Fusion gene ID: 26703
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 date2018052320180523
UniProtAcc

O75381

Q86V15

Ensembl transtripts involved in fusion geneENST00000356607, ENST00000538836, 
ENST00000492696, 
ENST00000377022, 
ENST00000344008, ENST00000478728, 
Fusion gene scores* DoF score7 X 5 X 7=2453 X 3 X 2=18
# samples 83
** MAII scorelog2(8/245*10)=-1.61470984411521
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: PEX14 [Title/Abstract] AND CASZ1 [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
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:0051260

protein homooligomerization

12488033

HgenePEX14

GO:0065003

protein-containing complex assembly

21525035

HgenePEX14

GO:1901094

negative regulation of protein homotetramerization

21976670

TgeneCASZ1

GO:0045893

positive regulation of transcription, DNA-templated

27693370


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
TCGALDHNSCTCGA-T2-A6X0-01APEX14chr1

10683173

+CASZ1chr1

10856707

-
* 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-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

-

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FusionProtFeatures for PEX14_CASZ1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PEX14

O75381

CASZ1

Q86V15

Peroxisome membrane protein that is an essentialcomponent of the peroxisomal import machinery. Functions as adocking factor for the predominantly cytoplasmic PTS1 receptor(PEX5). Plays a key role for peroxisome movement through a directinteraction with tubulin. {ECO:0000269|PubMed:21525035,ECO:0000269|PubMed:9653144}.

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 PEX14_CASZ1


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 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
PEX14MED8, ZHX1, SMARCC2, PEX5, PEX19, PEX13, PEX7, PEX14, ABCD3, AGPS, ATAD1, CNOT1, DHRS4, FAR1, GNPAT, HSD17B4, IMPDH2, MAP2K2, PEX10, PEX12, PEX16, PEX3, PEX2, TTC1, ARHGEF2, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, CCT8, CNP, DCTN1, DNM1L, DNM2, DYNC1H1, DYNC1I2, DYNC2H1, IQGAP1, IQGAP2, KIF11, LRPPRC, TUBB8, TCP1, TUBA1A, TUBA4A, TUBB, TUBB2A, TUBB2B, TUBB4B, TUBB3, TUBB4A, TUBB6, TUBG2, SLC27A2, NEU2, PRKCSH, AP2M1, PNPLA3, MIER2, ELAVL3, NUP35, VAPA, IKZF5, CROCC, CCL4, HOMER3, FOXJ1, GPR156, TP63, P4HA3, PNPLA2, NME3, ATRIP, SIRT6, RPL28, MTNR1ACASZ1APP, EED, BAG4, BCAR3, ESR2, PALB2, PPM1D, PTPN1, RAF1, WT1, TEAD2, TRIM25


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 PEX14_CASZ1


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 PEX14_CASZ1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePEX14C1832200Peroxisome biogenesis disorders3CTD_human
HgenePEX14C0043459Zellweger Syndrome2CTD_human;ORPHANET
HgenePEX14C0029927Ovarian Cysts1CTD_human