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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: 10848

FusionGeneSummary for E2F7_PTPRR

check button Fusion gene summary
Fusion gene informationFusion gene name: E2F7_PTPRR
Fusion gene ID: 10848
HgeneTgene
Gene symbol

E2F7

PTPRR

Gene ID

144455

5801

Gene nameE2F transcription factor 7protein tyrosine phosphatase, receptor type R
Synonyms-EC-PTP|PCPTP1|PTP-SL|PTPBR7|PTPRQ
Cytomap

12q21.2

12q15

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor E2F7E2F-7receptor-type tyrosine-protein phosphatase RCh-1 PTPaseNC-PTPCOM1R-PTP-Rch-1PTPaseprotein tyrosine phosphatase Cr1PTPaseprotein-tyrosine phosphatase NC-PTPCOM1protein-tyrosine phosphatase PCPTP1
Modification date2018052220180519
UniProtAcc

Q96AV8

Q15256

Ensembl transtripts involved in fusion geneENST00000322886, ENST00000416496, 
ENST00000283228, ENST00000440835, 
ENST00000537619, ENST00000378778, 
ENST00000342084, ENST00000549308, 
Fusion gene scores* DoF score2 X 2 X 2=833 X 13 X 10=4290
# samples 231
** MAII scorelog2(2/8*10)=1.32192809488736log2(31/4290*10)=-3.79063752711267
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: E2F7 [Title/Abstract] AND PTPRR [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
HgeneE2F7

GO:0000122

negative regulation of transcription by RNA polymerase II

22802528

HgeneE2F7

GO:0030330

DNA damage response, signal transduction by p53 class mediator

22802528

HgeneE2F7

GO:0071930

negative regulation of transcription involved in G1/S transition of mitotic cell cycle

22802528


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
TCGARVSARCTCGA-FX-A2QS-01AE2F7chr12

77426830

-PTPRRchr12

71158558

-
* 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-shitENST00000322886ENST00000283228E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000322886ENST00000440835E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000322886ENST00000537619E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000322886ENST00000378778E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000322886ENST00000342084E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000322886ENST00000549308E2F7chr12

77426830

-PTPRRchr12

71158558

-
Frame-shitENST00000416496ENST00000283228E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000416496ENST00000440835E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000416496ENST00000537619E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000416496ENST00000378778E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000416496ENST00000342084E2F7chr12

77426830

-PTPRRchr12

71158558

-
5CDS-intronENST00000416496ENST00000549308E2F7chr12

77426830

-PTPRRchr12

71158558

-

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FusionProtFeatures for E2F7_PTPRR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
E2F7

Q96AV8

PTPRR

Q15256

Atypical E2F transcription factor that participates invarious processes such as angiogenesis, polyploidization ofspecialized cells and DNA damage response. Mainly acts as atranscription repressor that binds DNA independently of DPproteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2Ftranscription factors such as E2F1. Acts as a regulator of S-phaseby recognizing and binding the E2-related site 5'-TTCCCGCC-3' andmediating repression of G1/S-regulated genes. Plays a key role inpolyploidization of cells in placenta and liver by regulating theendocycle, probably by repressing genes promoting cytokinesis andantagonizing action of classical E2F proteins (E2F1, E2F2 and/orE2F3). Required for placental development by promotingpolyploidization of trophoblast giant cells. Also involved in DNAdamage response: up-regulated by p53/TP53 following genotoxicstress and acts as a downstream effector of p53/TP53-dependentrepression by mediating repression of indirect p53/TP53 targetgenes involved in DNA replication. Acts as a promoter of sproutingangiogenesis, possibly by acting as a transcription activator:associates with HIF1A, recognizes and binds the VEGFA promoter,which is different from canonical E2 recognition site, andactivates expression of the VEGFA gene. Acts as a negativeregulator of keratinocyte differentiation.{ECO:0000269|PubMed:14633988, ECO:0000269|PubMed:15133492,ECO:0000269|PubMed:18202719, ECO:0000269|PubMed:19223542,ECO:0000269|PubMed:21248772, ECO:0000269|PubMed:22802528,ECO:0000269|PubMed:22802529, ECO:0000269|PubMed:22903062}. Sequesters mitogen-activated protein kinases (MAPKs)such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactiveform. The MAPKs bind to a dephosphorylated kinase interactingmotif, phosphorylation of which by the protein kinase A complexreleases the MAPKs for activation and translocation into thenucleus (By similarity). {ECO:0000250}.

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 E2F7_PTPRR


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 E2F7_PTPRR


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
E2F7RUVBL1, E2F7, SMURF1, DCP1B, HSFY1, CTBP1, HIST1H3E, RC3H1, C6orf141, CYLDPTPRRMAPK1, MAPK3, MAPK7, MAPK14, NTRK1, CEP290, EGFR, ERBB2, IGF1R, RET, MST1R, ERBB4, FGFR2, FGFR4, KDR, TEK, INSR, ALDH18A1, DHPS, PNMA2, TRIM11, KIAA0196, TBC1D5, DNAJC13, SNX6, PTPRR, MAPK1IP1L, MAPKAPK3, MAD2L1BP, CBS, MAPK11, CCT8L1P, HSPA4L, LMTK2, AATK, ERBB3, RYK, ROR1, ROR2, PTK7, EPHA2


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 E2F7_PTPRR


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 E2F7_PTPRR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePTPRRC0041696Unipolar Depression1PSYGENET
TgenePTPRRC1269683Major Depressive Disorder1PSYGENET