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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: 26142

FusionGeneSummary for PCBD2_GSTZ1

check button Fusion gene summary
Fusion gene informationFusion gene name: PCBD2_GSTZ1
Fusion gene ID: 26142
HgeneTgene
Gene symbol

PCBD2

GSTZ1

Gene ID

84105

2954

Gene namepterin-4 alpha-carbinolamine dehydratase 2glutathione S-transferase zeta 1
SynonymsDCOH2|DCOHM|PHS2GSTZ1-1|MAAI|MAAID|MAI
Cytomap

5q31.1

14q24.3

Type of geneprotein-codingprotein-coding
Descriptionpterin-4-alpha-carbinolamine dehydratase 24-alpha-hydroxy-tetrahydropterin dehydratase 26-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2DcoH-like protein DCoHmHNF-1-alpha dimerization cofactorPHmaleylacetoacetate isomeraseS-(hydroxyalkyl)glutathione lyaseglutathione S-alkyltransferaseglutathione S-aralkyltransferaseglutathione S-aryltransferaseglutathione transferase zeta 1maleylacetone isomerase
Modification date2018052220180523
UniProtAcc

Q9H0N5

O43708

Ensembl transtripts involved in fusion geneENST00000254908, ENST00000512783, 
ENST00000510013, 
ENST00000216465, 
ENST00000361389, ENST00000554279, 
ENST00000557639, ENST00000349555, 
ENST00000556627, ENST00000557053, 
ENST00000393734, ENST00000553586, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 1=4
# samples 23
** MAII scorelog2(2/1*10)=4.32192809488736log2(3/4*10)=2.90689059560852
Context

PubMed: PCBD2 [Title/Abstract] AND GSTZ1 [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
HgenePCBD2

GO:0045893

positive regulation of transcription, DNA-templated

11980910

TgeneGSTZ1

GO:0006749

glutathione metabolic process

10739172


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
ChiTaRS3.1BM833317PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
ChiTaRS3.1BM820517PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
* 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
intron-3CDSENST00000254908ENST00000216465PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000254908ENST00000361389PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000254908ENST00000554279PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000254908ENST00000557639PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000254908ENST00000349555PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000254908ENST00000556627PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000254908ENST00000557053PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000254908ENST00000393734PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000254908ENST00000553586PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-3CDSENST00000512783ENST00000216465PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000512783ENST00000361389PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000512783ENST00000554279PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000512783ENST00000557639PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000512783ENST00000349555PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000512783ENST00000556627PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000512783ENST00000557053PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000512783ENST00000393734PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000512783ENST00000553586PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-3CDSENST00000510013ENST00000216465PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000510013ENST00000361389PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000510013ENST00000554279PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000510013ENST00000557639PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000510013ENST00000349555PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000510013ENST00000556627PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-intronENST00000510013ENST00000557053PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000510013ENST00000393734PCBD2chr5

134260240

-GSTZ1chr14

77791211

+
intron-5UTRENST00000510013ENST00000553586PCBD2chr5

134260240

-GSTZ1chr14

77791211

+

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FusionProtFeatures for PCBD2_GSTZ1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PCBD2

Q9H0N5

GSTZ1

O43708

Involved in tetrahydrobiopterin biosynthesis. Seems toboth prevent the formation of 7-pterins and accelerate theformation of quinonoid-BH2 (By similarity). {ECO:0000250}. Regulates the dimerization of homeodomain protein HNF-1-alpha and enhances its transcriptional activity.{ECO:0000269|PubMed:11980910}.

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 PCBD2_GSTZ1


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 PCBD2_GSTZ1


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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RelatedDrugs for PCBD2_GSTZ1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGSTZ1O43708DB00143GlutathioneMaleylacetoacetate isomerasesmall moleculeapproved|investigational|nutraceutical

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RelatedDiseases for PCBD2_GSTZ1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGSTZ1C0005586Bipolar Disorder1PSYGENET
TgeneGSTZ1C0005695Bladder Neoplasm1CTD_human
TgeneGSTZ1C0042594Vestibular Diseases1CTD_human