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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: 25888

FusionGeneSummary for PANK1_PDK3

check button Fusion gene summary
Fusion gene informationFusion gene name: PANK1_PDK3
Fusion gene ID: 25888
HgeneTgene
Gene symbol

PANK1

PDK3

Gene ID

53354

5165

Gene namepantothenate kinase 1pyruvate dehydrogenase kinase 3
SynonymsPANKCMTX6|GS1-358P8.4
Cytomap

10q23.31

Xp22.11

Type of geneprotein-codingprotein-coding
Descriptionpantothenate kinase 1pantothenic acid kinase 1pyruvate dehydrogenase kinase, isozyme 3[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrialpyruvate dehydrogenase kinase, isoenzyme 3pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial
Modification date2018051920180519
UniProtAcc

Q8TE04

Q15120

Ensembl transtripts involved in fusion geneENST00000322191, ENST00000342512, 
ENST00000371774, ENST00000307534, 
ENST00000488482, 
ENST00000379162, 
ENST00000441463, ENST00000493226, 
Fusion gene scores* DoF score4 X 2 X 4=323 X 4 X 3=36
# samples 44
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PANK1 [Title/Abstract] AND PDK3 [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
TgenePDK3

GO:0018105

peptidyl-serine phosphorylation

11486000


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
TCGARVPRADTCGA-EJ-7327-01APANK1chr10

91404357

-PDK3chrX

24523326

+
* 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
intron-3CDSENST00000322191ENST00000379162PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-3CDSENST00000322191ENST00000441463PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-intronENST00000322191ENST00000493226PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-3CDSENST00000342512ENST00000379162PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-3CDSENST00000342512ENST00000441463PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-intronENST00000342512ENST00000493226PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-3CDSENST00000371774ENST00000379162PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-3CDSENST00000371774ENST00000441463PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-intronENST00000371774ENST00000493226PANK1chr10

91404357

-PDK3chrX

24523326

+
Frame-shiftENST00000307534ENST00000379162PANK1chr10

91404357

-PDK3chrX

24523326

+
Frame-shiftENST00000307534ENST00000441463PANK1chr10

91404357

-PDK3chrX

24523326

+
5CDS-intronENST00000307534ENST00000493226PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-3CDSENST00000488482ENST00000379162PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-3CDSENST00000488482ENST00000441463PANK1chr10

91404357

-PDK3chrX

24523326

+
intron-intronENST00000488482ENST00000493226PANK1chr10

91404357

-PDK3chrX

24523326

+

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FusionProtFeatures for PANK1_PDK3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PANK1

Q8TE04

PDK3

Q15120

Plays a role in the physiological regulation of theintracellular CoA concentration. {ECO:0000250}. Inhibits pyruvate dehydrogenase activity byphosphorylation of the E1 subunit PDHA1, and thereby regulatesglucose metabolism and aerobic respiration. Can also phosphorylatePDHA2. Decreases glucose utilization and increases fat metabolismin response to prolonged fasting, and as adaptation to a high-fatdiet. Plays a role in glucose homeostasis and in maintainingnormal blood glucose levels in function of nutrient levels andunder starvation. Plays a role in the generation of reactiveoxygen species. {ECO:0000269|PubMed:10748134,ECO:0000269|PubMed:11486000, ECO:0000269|PubMed:15861126,ECO:0000269|PubMed:16436377, ECO:0000269|PubMed:17683942,ECO:0000269|PubMed:18718909, ECO:0000269|PubMed:22865452}.

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 PANK1_PDK3


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 PANK1_PDK3


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
PANK1ELAVL1, YWHAQPDK3DLAT, EGFR, ICT1, APP, PDHB, DLD, PDK1, CCT6A, HLTF, TCP1, CCT3, UTRN, VCP, CCT7, CCT4, CCT2, CCT8, ECD, CCT5, ACAP2, UBR7, CECR5, PDHA2, PDK2, FOXD4, PDK4, PDHX, SYT12, PDHA1, STAT5A, DNLZ, NDUFS7, ACAD9, HSPD1, EIF1AX


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 PANK1_PDK3


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 PANK1_PDK3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDK3C3806702CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 61ORPHANET;UNIPROT