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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: 27656

FusionGeneSummary for PLEKHH2_ZBTB1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEKHH2_ZBTB1
Fusion gene ID: 27656
HgeneTgene
Gene symbol

PLEKHH2

ZBTB1

Gene ID

130271

22890

Gene namepleckstrin homology, MyTH4 and FERM domain containing H2zinc finger and BTB domain containing 1
SynonymsPLEKHH1LZNF909
Cytomap

2p21

14q23.3

Type of geneprotein-codingprotein-coding
Descriptionpleckstrin homology domain-containing family H member 2pleckstrin homology domain containing, family H (with MyTH4 domain) member 2zinc finger and BTB domain-containing protein 1
Modification date2018051920180519
UniProtAcc

Q8IVE3

Q9Y2K1

Ensembl transtripts involved in fusion geneENST00000282406, ENST00000556818, 
ENST00000554015, ENST00000394712, 
ENST00000358738, 
Fusion gene scores* DoF score3 X 2 X 3=184 X 2 X 4=32
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PLEKHH2 [Title/Abstract] AND ZBTB1 [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
TgeneZBTB1

GO:0000122

negative regulation of transcription by RNA polymerase II

20797634|21706167

TgeneZBTB1

GO:0042789

mRNA transcription by RNA polymerase II

21706167

TgeneZBTB1

GO:0051260

protein homooligomerization

20797634


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
TCGALDLGGTCGA-E1-5302-01APLEKHH2chr2

43937714

+ZBTB1chr14

64988205

+
* 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-intronENST00000282406ENST00000556818PLEKHH2chr2

43937714

+ZBTB1chr14

64988205

+
5CDS-5UTRENST00000282406ENST00000554015PLEKHH2chr2

43937714

+ZBTB1chr14

64988205

+
5CDS-5UTRENST00000282406ENST00000394712PLEKHH2chr2

43937714

+ZBTB1chr14

64988205

+
5CDS-5UTRENST00000282406ENST00000358738PLEKHH2chr2

43937714

+ZBTB1chr14

64988205

+

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FusionProtFeatures for PLEKHH2_ZBTB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLEKHH2

Q8IVE3

ZBTB1

Q9Y2K1

In the kidney glomerulus may play a role in linkingpodocyte foot processes to the glomerular basement membrane. Maybe involved in stabilization of F-actin by attenuating itsdepolymerization. Can recruit TGFB1I1 from focal adhesions topodocyte lamellipodia. Acts as a transcriptional repressor (PubMed:20797634).Represses cAMP-responsive element (CRE)-mediated transcriptionalactivation (PubMed:21706167). In addition, has a role intranslesion DNA synthesis. Requires for UV-inducible RAD18loading, PCNA monoubiquitination, POLH recruitment to replicationfactories and efficient translesion DNA synthesis(PubMed:24657165). Plays a key role in the transcriptionalregulation of T lymphocyte development (By similarity).{ECO:0000250|UniProtKB:Q91VL9, ECO:0000269|PubMed:20797634,ECO:0000269|PubMed:21706167, ECO:0000269|PubMed:24657165}.

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 PLEKHH2_ZBTB1


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 PLEKHH2_ZBTB1


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
PLEKHH2LYN, LPXN, FBXW11ZBTB1AR, EWSR1, ZBTB25, LZTR1, MAML3, PCNA, MTA2, TRIM28, ZBTB2, WDR77, TRIM33, RBM10, RPS14, CCAR2, HSPA8, FLNA, DDX1, BCLAF1, RPS16, RPL27A, PSMD2, RPS23, TGM3, RPL11, RPL30, RPS29, HIST1H1B, RPL13A, STK38, SRSF1, SRSF7, SPRR2E, OR51B4, RPL34, H2AFZ, RPL24, RPL27, EIF4B, MUCL1, HSPB1, C10orf2, RPL3, RPLP0, HNRNPA3, SLC25A3, HNRNPR, BLMH, RPL18, RPS13, DSP, C19orf43, WIZ, HADHA, RPS27, RPL14, TUBB4B, SNRPN, ANXA1, HSPA1L, RPSA, PDE4D, ARHGDIB, SLC25A6, MTCL1, CCDC42, RPL8, GATAD2B, RPS15A, KIF14, TESK2, RPS9, RPS25, RPS4X, SPTAN1, CRNN, SNRPD3, NCL, RPS11, SNRPA1, RPS8, TUBA1B, SF3A1, ACTB, TUBB, NDN, PIM1, FAM161A, ZNF572, ZNF417, TRIM42, SUMO2, UBE2I, UBC, SPATA6L, TREML2, XPO1, HEMGN, GPR156, ZNF76, ZNF785, GRAMD1B, GPBP1L1, PTRF, KLKB1


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 PLEKHH2_ZBTB1


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 PLEKHH2_ZBTB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource