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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: 26765

FusionGeneSummary for PFKL_PFKL

check button Fusion gene summary
Fusion gene informationFusion gene name: PFKL_PFKL
Fusion gene ID: 26765
HgeneTgene
Gene symbol

PFKL

PFKL

Gene ID

5211

5211

Gene namephosphofructokinase, liver typephosphofructokinase, liver type
SynonymsATP-PFK|PFK-B|PFK-LATP-PFK|PFK-B|PFK-L
Cytomap

21q22.3

21q22.3

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent 6-phosphofructokinase, liver type6-phosphofructokinase type B6-phosphofructokinase, liver typeliver-type 1-phosphofructokinasephosphofructo-1-kinase isozyme BphosphohexokinaseATP-dependent 6-phosphofructokinase, liver type6-phosphofructokinase type B6-phosphofructokinase, liver typeliver-type 1-phosphofructokinasephosphofructo-1-kinase isozyme Bphosphohexokinase
Modification date2018052320180523
UniProtAcc

P17858

P17858

Ensembl transtripts involved in fusion geneENST00000349048, ENST00000403390, 
ENST00000496824, 
ENST00000349048, 
ENST00000403390, ENST00000496824, 
Fusion gene scores* DoF score3 X 5 X 3=456 X 5 X 5=150
# samples 57
** MAII scorelog2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PFKL [Title/Abstract] AND PFKL [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
HgenePFKL

GO:0006002

fructose 6-phosphate metabolic process

6444532|6444721

HgenePFKL

GO:0006096

glycolytic process

6227635|6444532|22923583

HgenePFKL

GO:0009749

response to glucose

22923583

HgenePFKL

GO:0030388

fructose 1,6-bisphosphate metabolic process

22923583

HgenePFKL

GO:0051259

protein complex oligomerization

6444721

TgenePFKL

GO:0006002

fructose 6-phosphate metabolic process

6444532|6444721

TgenePFKL

GO:0006096

glycolytic process

6227635|6444532|22923583

TgenePFKL

GO:0009749

response to glucose

22923583

TgenePFKL

GO:0030388

fructose 1,6-bisphosphate metabolic process

22923583

TgenePFKL

GO:0051259

protein complex oligomerization

6444721


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
ChiTaRS3.1BI060191PFKLchr21

45732161

-PFKLchr21

45746701

-
ChiTaRS3.1BI024780PFKLchr21

45732037

-PFKLchr21

45746739

-
* 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-shiftENST00000349048ENST00000349048PFKLchr21

45732161

-PFKLchr21

45746701

-
Frame-shiftENST00000349048ENST00000403390PFKLchr21

45732161

-PFKLchr21

45746701

-
5CDS-intronENST00000349048ENST00000496824PFKLchr21

45732161

-PFKLchr21

45746701

-
Frame-shiftENST00000403390ENST00000349048PFKLchr21

45732161

-PFKLchr21

45746701

-
Frame-shiftENST00000403390ENST00000403390PFKLchr21

45732161

-PFKLchr21

45746701

-
5CDS-intronENST00000403390ENST00000496824PFKLchr21

45732161

-PFKLchr21

45746701

-
3UTR-3CDSENST00000496824ENST00000349048PFKLchr21

45732161

-PFKLchr21

45746701

-
3UTR-3CDSENST00000496824ENST00000403390PFKLchr21

45732161

-PFKLchr21

45746701

-
3UTR-intronENST00000496824ENST00000496824PFKLchr21

45732161

-PFKLchr21

45746701

-
Frame-shiftENST00000349048ENST00000349048PFKLchr21

45732037

-PFKLchr21

45746739

-
Frame-shiftENST00000349048ENST00000403390PFKLchr21

45732037

-PFKLchr21

45746739

-
5CDS-intronENST00000349048ENST00000496824PFKLchr21

45732037

-PFKLchr21

45746739

-
Frame-shiftENST00000403390ENST00000349048PFKLchr21

45732037

-PFKLchr21

45746739

-
Frame-shiftENST00000403390ENST00000403390PFKLchr21

45732037

-PFKLchr21

45746739

-
5CDS-intronENST00000403390ENST00000496824PFKLchr21

45732037

-PFKLchr21

45746739

-
3UTR-3CDSENST00000496824ENST00000349048PFKLchr21

45732037

-PFKLchr21

45746739

-
3UTR-3CDSENST00000496824ENST00000403390PFKLchr21

45732037

-PFKLchr21

45746739

-
3UTR-intronENST00000496824ENST00000496824PFKLchr21

45732037

-PFKLchr21

45746739

-

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FusionProtFeatures for PFKL_PFKL


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

P17858

PFKL

P17858

Catalyzes the phosphorylation of D-fructose 6-phosphateto fructose 1,6-bisphosphate by ATP, the first committing step ofglycolysis (PubMed:22923583). Negatively regulates the phagocyteoxidative burst in response to bacterial infection by controllingcellular NADPH biosynthesis and NADPH oxidase-derived reactiveoxygen species. Upon macrophage activation, drives the metabolicswitch toward glycolysis, thus preventing glucose turnover thatproduces NADPH via pentose phosphate pathway (By similarity).{ECO:0000250|UniProtKB:P12382, ECO:0000255|HAMAP-Rule:MF_03184,ECO:0000269|PubMed:22923583}. Catalyzes the phosphorylation of D-fructose 6-phosphateto fructose 1,6-bisphosphate by ATP, the first committing step ofglycolysis (PubMed:22923583). Negatively regulates the phagocyteoxidative burst in response to bacterial infection by controllingcellular NADPH biosynthesis and NADPH oxidase-derived reactiveoxygen species. Upon macrophage activation, drives the metabolicswitch toward glycolysis, thus preventing glucose turnover thatproduces NADPH via pentose phosphate pathway (By similarity).{ECO:0000250|UniProtKB:P12382, ECO:0000255|HAMAP-Rule:MF_03184,ECO:0000269|PubMed:22923583}.

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 PFKL_PFKL


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 PFKL_PFKL


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


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 PFKL_PFKL


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 PFKL_PFKL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePFKLC0005586Bipolar Disorder5PSYGENET
HgenePFKLC0525045Mood Disorders1PSYGENET
TgenePFKLC0005586Bipolar Disorder5PSYGENET
TgenePFKLC0525045Mood Disorders1PSYGENET