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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: 26772

FusionGeneSummary for PFN1_NAGK

check button Fusion gene summary
Fusion gene informationFusion gene name: PFN1_NAGK
Fusion gene ID: 26772
HgeneTgene
Gene symbol

PFN1

NAGK

Gene ID

5216

55577

Gene nameprofilin 1N-acetylglucosamine kinase
SynonymsALS18GNK|HSA242910
Cytomap

17p13.2

2p13.3

Type of geneprotein-codingprotein-coding
Descriptionprofilin-1epididymis tissue protein Li 184aprofilin IN-acetyl-D-glucosamine kinaseglcNAc kinase
Modification date2018052320180519
UniProtAcc

P07737

Q9UJ70

Ensembl transtripts involved in fusion geneENST00000225655, ENST00000574872, 
ENST00000455662, ENST00000418807, 
ENST00000443872, ENST00000443938, 
ENST00000244204, ENST00000428360, 
Fusion gene scores* DoF score3 X 3 X 1=92 X 2 X 1=4
# samples 32
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: PFN1 [Title/Abstract] AND NAGK [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
HgenePFN1

GO:0030837

negative regulation of actin filament polymerization

7758455

HgenePFN1

GO:0032781

positive regulation of ATPase activity

7758455

HgenePFN1

GO:0050821

protein stabilization

18573880


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
ChiTaRS3.1BQ334962PFN1chr17

4849137

-NAGKchr2

71305764

+
* 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-3UTRENST00000225655ENST00000455662PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-3UTRENST00000225655ENST00000418807PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-intronENST00000225655ENST00000443872PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-3UTRENST00000225655ENST00000443938PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-intronENST00000225655ENST00000244204PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-intronENST00000225655ENST00000428360PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-3UTRENST00000574872ENST00000455662PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-3UTRENST00000574872ENST00000418807PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-intronENST00000574872ENST00000443872PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-3UTRENST00000574872ENST00000443938PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-intronENST00000574872ENST00000244204PFN1chr17

4849137

-NAGKchr2

71305764

+
intron-intronENST00000574872ENST00000428360PFN1chr17

4849137

-NAGKchr2

71305764

+

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FusionProtFeatures for PFN1_NAGK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PFN1

P07737

NAGK

Q9UJ70

Binds to actin and affects the structure of thecytoskeleton. At high concentrations, profilin prevents thepolymerization of actin, whereas it enhances it at lowconcentrations. By binding to PIP2, it inhibits the formation ofIP3 and DG. Inhibits androgen receptor (AR) and HTT aggregationand binding of G-actin is essential for its inhibition of AR.{ECO:0000269|PubMed:18573880}. Converts endogenous N-acetylglucosamine (GlcNAc), amajor component of complex carbohydrates, from lysosomaldegradation or nutritional sources into GlcNAc 6-phosphate.Involved in the N-glycolylneuraminic acid (Neu5Gc) degradationpathway: although human is not able to catalyze formation ofNeu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in foodand must be degraded. Also has ManNAc kinase activity.{ECO:0000269|PubMed:22692205}.

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 PFN1_NAGK


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 PFN1_NAGK


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 PFN1_NAGK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePFN1P07737DB11638ArtenimolProfilin-1small moleculeapproved|investigational

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RelatedDiseases for PFN1_NAGK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePFN1C0022548Keloid1CTD_human
HgenePFN1C0023893Liver Cirrhosis, Experimental1CTD_human
HgenePFN1C0279626Squamous cell carcinoma of esophagus1CTD_human
HgenePFN1C3553719AMYOTROPHIC LATERAL SCLEROSIS 181UNIPROT
TgeneNAGKC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneNAGKC0027627Neoplasm Metastasis1CTD_human
TgeneNAGKC0033578Prostatic Neoplasms1CTD_human