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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: 26776

FusionGeneSummary for PFN2_PTPN12

check button Fusion gene summary
Fusion gene informationFusion gene name: PFN2_PTPN12
Fusion gene ID: 26776
HgeneTgene
Gene symbol

PFN2

PTPN12

Gene ID

5217

5782

Gene nameprofilin 2protein tyrosine phosphatase, non-receptor type 12
SynonymsD3S1319E|PFLPTP-PEST|PTPG1
Cytomap

3q25.1

7q11.23

Type of geneprotein-codingprotein-coding
Descriptionprofilin-2profilin IItyrosine-protein phosphatase non-receptor type 12protein-tyrosine phosphatase G1
Modification date2018052320180522
UniProtAcc

P35080

Q05209

Ensembl transtripts involved in fusion geneENST00000452853, ENST00000239940, 
ENST00000423691, ENST00000481767, 
ENST00000494827, ENST00000490975, 
ENST00000497148, ENST00000475518, 
ENST00000481275, ENST00000498307, 
ENST00000489155, ENST00000461930, 
ENST00000461868, 
ENST00000248594, 
ENST00000415482, ENST00000435495, 
Fusion gene scores* DoF score3 X 3 X 1=97 X 7 X 5=245
# samples 37
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PFN2 [Title/Abstract] AND PTPN12 [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
HgenePFN2

GO:0030837

negative regulation of actin filament polymerization

7758455

HgenePFN2

GO:0032781

positive regulation of ATPase activity

7758455

HgenePFN2

GO:0050821

protein stabilization

18573880

TgenePTPN12

GO:0006470

protein dephosphorylation

27134172

TgenePTPN12

GO:0035335

peptidyl-tyrosine dephosphorylation

27134172


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
ChiTaRS3.1AI084432PFN2chr3

149682753

+PTPN12chr7

77256631

-
* 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-3CDSENST00000452853ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000452853ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000452853ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000239940ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000239940ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000239940ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000423691ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000423691ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000423691ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000481767ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000481767ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000481767ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000494827ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000494827ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000494827ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000490975ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000490975ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000490975ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000497148ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000497148ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000497148ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000475518ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000475518ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000475518ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000481275ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000481275ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000481275ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000498307ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000498307ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000498307ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000489155ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000489155ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000489155ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000461930ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000461930ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000461930ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000461868ENST00000248594PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000461868ENST00000415482PFN2chr3

149682753

+PTPN12chr7

77256631

-
intron-3CDSENST00000461868ENST00000435495PFN2chr3

149682753

+PTPN12chr7

77256631

-

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FusionProtFeatures for PFN2_PTPN12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PFN2

P35080

PTPN12

Q05209

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.

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 PFN2_PTPN12


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 PFN2_PTPN12


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 PFN2_PTPN12


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 PFN2_PTPN12


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