FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 28513

FusionGeneSummary for PPP5C_HIF3A

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP5C_HIF3A
Fusion gene ID: 28513
HgeneTgene
Gene symbol

PPP5C

HIF3A

Gene ID

5536

64344

Gene nameprotein phosphatase 5 catalytic subunithypoxia inducible factor 3 subunit alpha
SynonymsPP5|PPP5|PPTHIF-3A|HIF3-alpha-1|IPAS|MOP7|PASD7|bHLHe17
Cytomap

19q13.32

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase 5PP-Tprotein phosphatase Thypoxia-inducible factor 3-alphaPAS domain-containing protein 7basic-helix-loop-helix-PAS protein MOP7class E basic helix-loop-helix protein 17hypoxia inducible factor 3 alpha subunitinhibitory PAS domain proteinmember of PAS protein 7
Modification date2018052320180523
UniProtAcc

P53041

Q9Y2N7

Ensembl transtripts involved in fusion geneENST00000012443, ENST00000391919, 
ENST00000377670, ENST00000244303, 
ENST00000339613, ENST00000472815, 
ENST00000300862, ENST00000600383, 
ENST00000420102, ENST00000525854, 
Fusion gene scores* DoF score5 X 3 X 4=601 X 1 X 1=1
# samples 51
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: PPP5C [Title/Abstract] AND HIF3A [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

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
TCGALDCESCTCGA-JW-A5VJ-01APPP5Cchr19

46879831

+HIF3Achr19

46838162

+
* 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
In-frameENST00000012443ENST00000377670PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
In-frameENST00000012443ENST00000244303PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
In-frameENST00000012443ENST00000339613PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000012443ENST00000472815PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000012443ENST00000300862PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000012443ENST00000600383PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000012443ENST00000420102PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000012443ENST00000525854PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
In-frameENST00000391919ENST00000377670PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
In-frameENST00000391919ENST00000244303PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
In-frameENST00000391919ENST00000339613PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000391919ENST00000472815PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000391919ENST00000300862PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000391919ENST00000600383PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000391919ENST00000420102PPP5Cchr19

46879831

+HIF3Achr19

46838162

+
5CDS-intronENST00000391919ENST00000525854PPP5Cchr19

46879831

+HIF3Achr19

46838162

+

Top

FusionProtFeatures for PPP5C_HIF3A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP5C

P53041

HIF3A

Q9Y2N7

Serine/threonine-protein phosphatase thatdephosphorylates a myriad of proteins involved in differentsignaling pathways including the kinases CSNK1E, ASK1/MAP3K5,PRKDC and RAF1, the nuclear receptors NR3C1, PPARG, ESR1 and ESR2,SMAD proteins and TAU/MAPT. Implicated in wide ranging cellularprocesses, including apoptosis, differentiation, DNA damageresponse, cell survival, regulation of ion channels or circadianrhythms, in response to steroid and thyroid hormones, calcium,fatty acids, TGF-beta as well as oxidative and genotoxic stresses.Participates in the control of DNA damage response mechanisms suchas checkpoint activation and DNA damage repair through, forinstance, the regulation ATM/ATR-signaling and dephosphorylationof PRKDC and TP53BP1. Inhibits ASK1/MAP3K5-mediated apoptosisinduced by oxidative stress. Plays a positive role inadipogenesis, mainly through the dephosphorylation and activationof PPARG transactivation function. Also dephosphorylates andinhibits the anti-adipogenic effect of NR3C1. Regulates thecircadian rhythms, through the dephosphorylation and activation ofCSNK1E. May modulate TGF-beta signaling pathway by the regulationof SMAD3 phosphorylation and protein expression levels.Dephosphorylates and may play a role in the regulation ofTAU/MAPT. Through their dephosphorylation, may play a role in theregulation of ions channels such as KCNH2.{ECO:0000269|PubMed:14734805, ECO:0000269|PubMed:14764652,ECO:0000269|PubMed:14871926, ECO:0000269|PubMed:15383005,ECO:0000269|PubMed:15546861, ECO:0000269|PubMed:16260606,ECO:0000269|PubMed:16790549, ECO:0000269|PubMed:16892053,ECO:0000269|PubMed:19176521, ECO:0000269|PubMed:19948726,ECO:0000269|PubMed:21144835, ECO:0000269|PubMed:22399290,ECO:0000269|PubMed:22781750, ECO:0000269|PubMed:23102700,ECO:0000269|PubMed:9000529}.

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
HgenePPP5Cchr19:46879831chr19:46838162ENST00000012443+41328_61211500RepeatNote=TPR 1
HgenePPP5Cchr19:46879831chr19:46838162ENST00000012443+41362_95211500RepeatNote=TPR 2
HgenePPP5Cchr19:46879831chr19:46838162ENST00000012443+41396_129211500RepeatNote=TPR 3

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePPP5Cchr19:46879831chr19:46838162ENST00000012443+413184_499211500RegionNote=Catalytic
HgenePPP5Cchr19:46879831chr19:46838162ENST00000012443+413303_304211500RegionSubstrate binding
HgenePPP5Cchr19:46879831chr19:46838162ENST00000012443+413495_499211500RegionRequired for autoinhibition
TgeneHIF3Achr19:46879831chr19:46838162ENST00000244303+111414_67541601DomainbHLH
TgeneHIF3Achr19:46879831chr19:46838162ENST00000244303+1114227_297541601DomainPAS 2
TgeneHIF3Achr19:46879831chr19:46838162ENST00000244303+111482_154541601DomainPAS 1
TgeneHIF3Achr19:46879831chr19:46838162ENST00000300862+121514_67608668DomainbHLH
TgeneHIF3Achr19:46879831chr19:46838162ENST00000300862+1215227_297608668DomainPAS 2
TgeneHIF3Achr19:46879831chr19:46838162ENST00000300862+121582_154608668DomainPAS 1
TgeneHIF3Achr19:46879831chr19:46838162ENST00000377670+121514_67610670DomainbHLH
TgeneHIF3Achr19:46879831chr19:46838162ENST00000377670+1215227_297610670DomainPAS 2
TgeneHIF3Achr19:46879831chr19:46838162ENST00000377670+121582_154610670DomainPAS 1
TgeneHIF3Achr19:46879831chr19:46838162ENST00000244303+1114414_418541601MotifNote=LRRLL
TgeneHIF3Achr19:46879831chr19:46838162ENST00000244303+1114490_497541601MotifNote=LAPYISMD
TgeneHIF3Achr19:46879831chr19:46838162ENST00000300862+1215414_418608668MotifNote=LRRLL
TgeneHIF3Achr19:46879831chr19:46838162ENST00000300862+1215490_497608668MotifNote=LAPYISMD
TgeneHIF3Achr19:46879831chr19:46838162ENST00000377670+1215414_418610670MotifNote=LRRLL
TgeneHIF3Achr19:46879831chr19:46838162ENST00000377670+1215490_497610670MotifNote=LAPYISMD
TgeneHIF3Achr19:46879831chr19:46838162ENST00000244303+1114230_274541601RegionNuclear export signal
TgeneHIF3Achr19:46879831chr19:46838162ENST00000244303+1114452_581541601RegionNote=ODD
TgeneHIF3Achr19:46879831chr19:46838162ENST00000244303+1114454_506541601RegionNote=NTAD
TgeneHIF3Achr19:46879831chr19:46838162ENST00000244303+111477_100541601RegionNuclear localization signal
TgeneHIF3Achr19:46879831chr19:46838162ENST00000300862+1215230_274608668RegionNuclear export signal
TgeneHIF3Achr19:46879831chr19:46838162ENST00000300862+1215452_581608668RegionNote=ODD
TgeneHIF3Achr19:46879831chr19:46838162ENST00000300862+1215454_506608668RegionNote=NTAD
TgeneHIF3Achr19:46879831chr19:46838162ENST00000300862+121577_100608668RegionNuclear localization signal
TgeneHIF3Achr19:46879831chr19:46838162ENST00000377670+1215230_274610670RegionNuclear export signal
TgeneHIF3Achr19:46879831chr19:46838162ENST00000377670+1215452_581610670RegionNote=ODD
TgeneHIF3Achr19:46879831chr19:46838162ENST00000377670+1215454_506610670RegionNote=NTAD
TgeneHIF3Achr19:46879831chr19:46838162ENST00000377670+121577_100610670RegionNuclear localization signal


Top

FusionGeneSequence for PPP5C_HIF3A


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).

Top

FusionGenePPI for PPP5C_HIF3A


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
PPP5CCSE1L, CDC27, GNA12, GNA13, MAP3K5, CRY2, USP49, PHLPP1, EGFR, HSPA4, HSP90AA1, DISC1, MAP3K7, CDK20, NR3C1, NR3C2, PGR, AR, PTGES3, APP, DIS3, AHSG, HNRNPA1, MAPT, ESR2, ESR1, GRB2, STIP1, HSPA8, HSPA1B, HSP90AB1, CCT4, CDC37, CDK18, ABHD14A, BZW2, EIF6, GINS3, GSS, NAPRT, PAFAH1B2, PAPSS1, PLD3, CTPS1, DCPS, DFFA, FUBP1, GAPDH, PPIB, TUFM, VCL, RAP1GDS1, XPO1, AHSA1, CDC37L1, IRS4, CHORDC1, ENO1, SHMT2, MOV10, NXF1, BPHL, DUT, MINPP1, NOL10, PSPC1, TATDN1, NTRK1, PSEN2, RBBP6, RPS6KB1, ABCF2, USP45, FLCN, HSPA6, DUSP8, POLD2, RAB41, TPTE, TRIM25HIF3AVHL, HSP90AA1, EPAS1


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


Top

RelatedDrugs for PPP5C_HIF3A


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

Top

RelatedDiseases for PPP5C_HIF3A


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