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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: 27895

FusionGeneSummary for POGZ_GBA

check button Fusion gene summary
Fusion gene informationFusion gene name: POGZ_GBA
Fusion gene ID: 27895
HgeneTgene
Gene symbol

POGZ

GBA

Gene ID

23126

2629

Gene namepogo transposable element derived with ZNF domainglucosylceramidase beta
SynonymsMRD37|WHSUS|ZNF280E|ZNF635|ZNF635mGBA1|GCB|GLUC
Cytomap

1q21.3

1q22

Type of geneprotein-codingprotein-coding
Descriptionpogo transposable element with ZNF domainputative protein product of Nbla00003zinc finger protein 280Ezinc finger protein 635glucosylceramidaseD-glucosyl-N-acylsphingosine glucohydrolaseacid beta-glucosidasealglucerasebeta-GCbeta-glucocerebrosidaseglucosidase, beta, acidglucosylceramidase-like proteinimigluceraselysosomal glucocerebrosidase
Modification date2018052320180527
UniProtAcc

Q7Z3K3

P04062

Ensembl transtripts involved in fusion geneENST00000392723, ENST00000361398, 
ENST00000271715, ENST00000368863, 
ENST00000409503, ENST00000531094, 
ENST00000540984, ENST00000491586, 
ENST00000368373, ENST00000327247, 
ENST00000427500, ENST00000536770, 
ENST00000428024, ENST00000493842, 
Fusion gene scores* DoF score8 X 6 X 6=2884 X 3 X 4=48
# samples 84
** MAII scorelog2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: POGZ [Title/Abstract] AND GBA [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
TgeneGBA

GO:0032463

negative regulation of protein homooligomerization

26392287

TgeneGBA

GO:0032715

negative regulation of interleukin-6 production

19279008

TgeneGBA

GO:0043243

positive regulation of protein complex disassembly

26392287


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
TCGARVBRCATCGA-A2-A04U-01APOGZchr1

151395873

-GBAchr1

155210971

-
* 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
5CDS-5UTRENST00000392723ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000392723ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000392723ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000392723ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000392723ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000392723ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000361398ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000271715ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000271715ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000271715ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000271715ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000271715ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000271715ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000368863ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000409503ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000531094ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-intronENST00000540984ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000491586ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-

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FusionProtFeatures for POGZ_GBA


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

Q7Z3K3

GBA

P04062


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 POGZ_GBA


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 POGZ_GBA


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
POGZSP1, CREB1, NFYC, VAV2, CBX1, CBX3, SIRT7, APP, MDC1, CBX5, CDK6, DAB1, GABPB1, NFYA, NRF1, POU2F1, HGS, DAZAP2, ZBTB24, RBPMS, BANP, ZXDC, PRR20A, ENO1, MOV10, NXF1, HIST3H3, HDGFRP2, MAD2L2, CHAMP1, ZMYM4, EED, RNF2, SUMO2, TMEM171, XPO1, ING4, FOXG1, FOXJ2, FOXQ1, USP37, NFATC2, ZNF428, ZNF576, LCOR, CD4, NR3C1GBANEDD4, HSP90AA1, HSPA4, TCP1, PARK2, CBL, FBXO6, SNCA, ATP6V1B1, ITCH, NUDCD1, PCBP2, NTRK1, ATP5J, CANX, DHCR24, FMR1, HSPD1, RPS6KA3, HSP90B1, CCT3, TOP3B, SCAMP3, INADL, HYOU1, CCT8, ZMYND11, B4GALT7, SKIV2L2, IMP3, BMP2K, ZCCHC8, FGD6, RNF20, JPH1, ZFP91, RAB27B, HCCS, COMT, RAB14, RAB21, POMK, ARL8B, RDH11, ESYT1


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 POGZ_GBA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGBAP04062DB06720Velaglucerase alfaGlucosylceramidasebiotechapproved|investigational

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RelatedDiseases for POGZ_GBA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGBAC1961835Gaucher Disease, Type 140ORPHANET;UNIPROT
TgeneGBAC0268250Gaucher Disease, Type 2 (disorder)12ORPHANET;UNIPROT
TgeneGBAC0017205Gaucher Disease5CTD_human
TgeneGBAC0030567Parkinson Disease2CTD_human
TgeneGBAC0020542Pulmonary Hypertension1CTD_human;HPO
TgeneGBAC0242422Parkinsonian Disorders1CTD_human
TgeneGBAC0268251Gaucher Disease, Type 3 (disorder)1ORPHANET;UNIPROT
TgeneGBAC0752347Lewy Body Disease1CTD_human