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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: 26554

FusionGeneSummary for PDPK1_UBALD1

check button Fusion gene summary
Fusion gene informationFusion gene name: PDPK1_UBALD1
Fusion gene ID: 26554
HgeneTgene
Gene symbol

PDPK1

UBALD1

Gene ID

5170

124402

Gene name3-phosphoinositide dependent protein kinase 1UBA like domain containing 1
SynonymsPDK1|PDPK2|PDPK2P|PRO0461FAM100A|PP11303
Cytomap

16p13.3

16p13.3

Type of geneprotein-codingprotein-coding
Description3-phosphoinositide-dependent protein kinase 13-phosphoinositide-dependent protein kinase 2 pseudogenePkB kinase like gene 1UBA-like domain-containing protein 1family with sequence similarity 100, member Aprotein FAM100A
Modification date2018052320180402
UniProtAcc

O15530

Q8TB05

Ensembl transtripts involved in fusion geneENST00000342085, ENST00000441549, 
ENST00000268673, ENST00000354836, 
ENST00000389224, ENST00000471311, 
ENST00000590891, ENST00000590965, 
ENST00000591401, ENST00000283474, 
ENST00000591897, ENST00000587615, 
ENST00000587649, 
Fusion gene scores* DoF score7 X 7 X 5=2451 X 1 X 1=1
# samples 71
** MAII scorelog2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: PDPK1 [Title/Abstract] AND UBALD1 [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
HgenePDPK1

GO:0006468

protein phosphorylation

14585963

HgenePDPK1

GO:0006469

negative regulation of protein kinase activity

9373175

HgenePDPK1

GO:0018107

peptidyl-threonine phosphorylation

9368760

HgenePDPK1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

17327236

HgenePDPK1

GO:0032148

activation of protein kinase B activity

9368760

HgenePDPK1

GO:0035556

intracellular signal transduction

14749367

HgenePDPK1

GO:0051281

positive regulation of release of sequestered calcium ion into cytosol

22454520


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-FU-A3TQ-01APDPK1chr16

2588137

+UBALD1chr16

4660556

-
* 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-5UTRENST00000342085ENST00000590891PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000342085ENST00000590965PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-intronENST00000342085ENST00000591401PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-intronENST00000342085ENST00000283474PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000342085ENST00000591897PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000342085ENST00000587615PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000342085ENST00000587649PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000441549ENST00000590891PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000441549ENST00000590965PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-intronENST00000441549ENST00000591401PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-intronENST00000441549ENST00000283474PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000441549ENST00000591897PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000441549ENST00000587615PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000441549ENST00000587649PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000268673ENST00000590891PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000268673ENST00000590965PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-intronENST00000268673ENST00000591401PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-intronENST00000268673ENST00000283474PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000268673ENST00000591897PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000268673ENST00000587615PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000268673ENST00000587649PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000354836ENST00000590891PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000354836ENST00000590965PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-intronENST00000354836ENST00000591401PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-intronENST00000354836ENST00000283474PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000354836ENST00000591897PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000354836ENST00000587615PDPK1chr16

2588137

+UBALD1chr16

4660556

-
5CDS-5UTRENST00000354836ENST00000587649PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000389224ENST00000590891PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000389224ENST00000590965PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-intronENST00000389224ENST00000591401PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-intronENST00000389224ENST00000283474PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000389224ENST00000591897PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000389224ENST00000587615PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000389224ENST00000587649PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000471311ENST00000590891PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000471311ENST00000590965PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-intronENST00000471311ENST00000591401PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-intronENST00000471311ENST00000283474PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000471311ENST00000591897PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000471311ENST00000587615PDPK1chr16

2588137

+UBALD1chr16

4660556

-
intron-5UTRENST00000471311ENST00000587649PDPK1chr16

2588137

+UBALD1chr16

4660556

-

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FusionProtFeatures for PDPK1_UBALD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PDPK1

O15530

UBALD1

Q8TB05

Serine/threonine kinase which acts as a master kinase,phosphorylating and activating a subgroup of the AGC family ofprotein kinases. Its targets include: protein kinase B (PKB/AKT1,PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1),p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3),cyclic AMP-dependent protein kinase (PRKACA), protein kinase C(PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase(SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), proteinkinase PKN (PKN1 and PKN2). Plays a central role in thetransduction of signals from insulin by providing the activatingphosphorylation to PKB/AKT1, thus propagating the signal todownstream targets controlling cell proliferation and survival, aswell as glucose and amino acid uptake and storage. Negativelyregulates the TGF-beta-induced signaling by: modulating theassociation of SMAD3 and SMAD7 with TGF-beta receptor,phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing thenuclear translocation of SMAD3 and SMAD4 and the translocation ofSMAD7 from the nucleus to the cytoplasm in response to TGF-beta.Activates PPARG transcriptional activity and promotes adipocytedifferentiation. Activates the NF-kappa-B pathway viaphosphorylation of IKKB. The tyrosine phosphorylated form iscrucial for the regulation of focal adhesions by angiotensin II.Controls proliferation, survival, and growth of developingpancreatic cells. Participates in the regulation of Ca(2+) entryand Ca(2+)-activated K(+) channels of mast cells. Essential forthe motility of vascular endothelial cells (ECs) and is involvedin the regulation of their chemotaxis. Plays a critical role incardiac homeostasis by serving as a dual effector for cellsurvival and beta-adrenergic response. Plays an important roleduring thymocyte development by regulating the expression of keynutrient receptors on the surface of pre-T cells and mediatingNotch-induced cell growth and proliferative responses. Providesnegative feedback inhibition to toll-like receptor-mediated NF-kappa-B activation in macrophages. Isoform 3 is catalyticallyinactive. {ECO:0000269|PubMed:10226025,ECO:0000269|PubMed:10480933, ECO:0000269|PubMed:10995762,ECO:0000269|PubMed:12167717, ECO:0000269|PubMed:14585963,ECO:0000269|PubMed:14604990, ECO:0000269|PubMed:16207722,ECO:0000269|PubMed:16251192, ECO:0000269|PubMed:17327236,ECO:0000269|PubMed:17371830, ECO:0000269|PubMed:18835241,ECO:0000269|PubMed:9094314, ECO:0000269|PubMed:9445476,ECO:0000269|PubMed:9707564, ECO:0000269|PubMed:9768361}.

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 PDPK1_UBALD1


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 PDPK1_UBALD1


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
PDPK1PRKCZ, PRKCI, PRSS23, SLC9A3R2, SGK1, PRKCD, PKN2, RPS6KA3, PDPK1, AKT1, PRKCB, PKN1, YWHAQ, YWHAH, PRKACA, ILK, MAPK8, SND1, G3BP1, TBL2, PA2G4, PRKCQ, CARD11, PEA15, FAM213B, POLDIP2, GIT1, ZNF133, XPO7, SBF1, PNO1, DDIT4, SMARCB1, SOCS3, C2orf44, KATNBL1, XRCC6, TCAP, BLMH, PHAX, ZC3HC1, LUC7L2, STRAP, APP, SRPK1, ZDHHC17, WDR5, SERPINA4, CPA4, FAM199X, CSK, APBB3, XPO1, MAP3K7, SDC2, HSPA8, SCRN2, AKT2UBALD1


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 PDPK1_UBALD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePDPK1O15530DB00482Celecoxib3-phosphoinositide-dependent protein kinase 1small moleculeapproved|investigational

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RelatedDiseases for PDPK1_UBALD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDPK1C0018801Heart failure1CTD_human
HgenePDPK1C0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgenePDPK1C1458155Mammary Neoplasms1CTD_human