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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: 43537

FusionGeneSummary for ZNF626_PHLPP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF626_PHLPP1
Fusion gene ID: 43537
HgeneTgene
Gene symbol

ZNF626

PHLPP1

Gene ID

199777

23239

Gene namezinc finger protein 626PH domain and leucine rich repeat protein phosphatase 1
Synonyms-PHLPP|PLEKHE1|PPM3A|SCOP
Cytomap

19p12

18q21.33

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 626CTC-513N18.7PH domain leucine-rich repeat-containing protein phosphatase 1PH domain-containing family E member 1SCN circadian oscillatory proteinpleckstrin homology domain containing, family E (with leucine rich repeats) member 1protein phosphatase, Mg2+/Mn2+ dep
Modification date2018051920180523
UniProtAcc

Q68DY1

O60346

Ensembl transtripts involved in fusion geneENST00000601440, ENST00000291750, 
ENST00000400316, ENST00000262719, 
ENST00000588953, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 2 X 2=8
# samples 32
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: ZNF626 [Title/Abstract] AND PHLPP1 [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
TgenePHLPP1

GO:0042981

regulation of apoptotic process

20513427

TgenePHLPP1

GO:0046328

regulation of JNK cascade

17386267

TgenePHLPP1

GO:1900744

regulation of p38MAPK cascade

17386267


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
ChiTaRS3.1DA250269ZNF626chr19

20844248

-PHLPP1chr18

60562243

+
* 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-shiftENST00000601440ENST00000400316ZNF626chr19

20844248

-PHLPP1chr18

60562243

+
Frame-shiftENST00000601440ENST00000262719ZNF626chr19

20844248

-PHLPP1chr18

60562243

+
5CDS-intronENST00000601440ENST00000588953ZNF626chr19

20844248

-PHLPP1chr18

60562243

+
Frame-shiftENST00000291750ENST00000400316ZNF626chr19

20844248

-PHLPP1chr18

60562243

+
Frame-shiftENST00000291750ENST00000262719ZNF626chr19

20844248

-PHLPP1chr18

60562243

+
5CDS-intronENST00000291750ENST00000588953ZNF626chr19

20844248

-PHLPP1chr18

60562243

+

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FusionProtFeatures for ZNF626_PHLPP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNF626

Q68DY1

PHLPP1

O60346

May be involved in transcriptional regulation. Protein phosphatase involved in regulation of Akt andPKC signaling. Mediates dephosphorylation in the C-terminal domainhydrophobic motif of members of the AGC Ser/Thr protein kinasefamily; specifically acts on 'Ser-473' of AKT2 and AKT3, 'Ser-660'of PRKCB and 'Ser-657' of PRKCA (PubMed:15808505, PubMed:17386267,PubMed:18162466). Isoform 2 seems to have a major role inregulating Akt signaling in hippocampal neurons (By similarity).Akt regulates the balance between cell survival and apoptosisthrough a cascade that primarily alters the function oftranscription factors that regulate pro- and antiapoptotic genes.Dephosphorylation of 'Ser-473' of Akt triggers apoptosis andsuppression of tumor growth. Dephosphorylation of PRKCA and PRKCBleads to their destabilization and degradation (PubMed:18162466).Dephosphorylates STK4 on 'Thr-387' leading to STK4 activation andapoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and isinvolved in regulation of cap-dependent translation(PubMed:21986499). Inhibits cancer cell proliferation and may actas a tumor suppressor (PubMed:19079341). Dephosphorylates RAF1inhibiting its kinase activity (PubMed:24530606). May act as anegative regulator of K-Ras signaling in membrane rafts (Bysimilarity). Involved in the hippocampus-dependent long-termmemory formation (By similarity). Involved in circadian control byregulating the consolidation of circadian periodicity afterresetting (By similarity). Involved in development and function ofregulatory T-cells (By similarity). {ECO:0000250|UniProtKB:Q8CHE4,ECO:0000250|UniProtKB:Q9WTR8, ECO:0000269|PubMed:15808505,ECO:0000269|PubMed:17386267, ECO:0000269|PubMed:18162466,ECO:0000269|PubMed:19079341, ECO:0000269|PubMed:21986499,ECO:0000269|PubMed:24530606}.

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 ZNF626_PHLPP1


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 ZNF626_PHLPP1


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
ZNF626FHL2, ID3PHLPP1BTRC, CSNK1A1, GSK3B, FKBP5, PPP5C, USP1, SLC9A3R2, SUGT1, PHLPP2, USP12, USP46, MARK2, WDR48, DMWD, SCRIB, RBM15, SNX27, WDR20, AKT1, ELAVL1, SNX6, WBSCR22, EFNB2, RFPL2, HDAC1, MAPK8, BRAP, SLC9A3R1, BAG2, FKBP4, MCMBP, NUDCD3, PPP2R1A, PPP2R2A, RPAP3, AIP, AGTPBP1, NUDC, GLMN, HAVCR2, SKP2, FANCI, TRIM25, STUB1, COA1, IRS4


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 ZNF626_PHLPP1


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 ZNF626_PHLPP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePHLPP1C0007621Neoplastic Cell Transformation1CTD_human