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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: 11114

FusionGeneSummary for EGFR_PTPRF

check button Fusion gene summary
Fusion gene informationFusion gene name: EGFR_PTPRF
Fusion gene ID: 11114
HgeneTgene
Gene symbol

EGFR

PTPRF

Gene ID

1956

5792

Gene nameepidermal growth factor receptorprotein tyrosine phosphatase, receptor type F
SynonymsERBB|ERBB1|HER1|NISBD2|PIG61|mENABNAH2|LAR
Cytomap

7p11.2

1p34.2

Type of geneprotein-codingprotein-coding
Descriptionepidermal growth factor receptoravian erythroblastic leukemia viral (v-erb-b) oncogene homologcell growth inhibiting protein 40cell proliferation-inducing protein 61epidermal growth factor receptor tyrosine kinase domainerb-b2 receptor tyrosine kinasreceptor-type tyrosine-protein phosphatase FLCA-homologleukocyte antigen-related (LAR) PTP receptorleukocyte antigen-related tyrosine phosphataseleukocyte common antigen relatedprotein tyrosine phosphatase, receptor type, F polypeptidereceptor-linke
Modification date2018052720180522
UniProtAcc

P00533

P10586

Ensembl transtripts involved in fusion geneENST00000455089, ENST00000342916, 
ENST00000344576, ENST00000420316, 
ENST00000275493, ENST00000442591, 
ENST00000463948, ENST00000454757, 
ENST00000359947, ENST00000438120, 
ENST00000372413, ENST00000372414, 
ENST00000422171, ENST00000496447, 
Fusion gene scores* DoF score18 X 8 X 8=11527 X 9 X 4=252
# samples 179
** MAII scorelog2(17/1152*10)=-2.76053406530461
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EGFR [Title/Abstract] AND PTPRF [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
HgeneEGFR

GO:0001934

positive regulation of protein phosphorylation

20551055

HgeneEGFR

GO:0007165

signal transduction

10572067

HgeneEGFR

GO:0007166

cell surface receptor signaling pathway

7736574

HgeneEGFR

GO:0007173

epidermal growth factor receptor signaling pathway

7736574|12435727

HgeneEGFR

GO:0008283

cell proliferation

17115032

HgeneEGFR

GO:0008284

positive regulation of cell proliferation

7736574

HgeneEGFR

GO:0010750

positive regulation of nitric oxide mediated signal transduction

12828935

HgeneEGFR

GO:0018108

peptidyl-tyrosine phosphorylation

22732145

HgeneEGFR

GO:0030307

positive regulation of cell growth

15467833

HgeneEGFR

GO:0031659

positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle

18483258

HgeneEGFR

GO:0042177

negative regulation of protein catabolic process

17115032

HgeneEGFR

GO:0042327

positive regulation of phosphorylation

15082764

HgeneEGFR

GO:0043406

positive regulation of MAP kinase activity

10572067

HgeneEGFR

GO:0045739

positive regulation of DNA repair

17115032

HgeneEGFR

GO:0045740

positive regulation of DNA replication

17115032

HgeneEGFR

GO:0045944

positive regulation of transcription by RNA polymerase II

20551055

HgeneEGFR

GO:0050679

positive regulation of epithelial cell proliferation

10572067

HgeneEGFR

GO:0050999

regulation of nitric-oxide synthase activity

12828935

HgeneEGFR

GO:0070141

response to UV-A

18483258

HgeneEGFR

GO:0070374

positive regulation of ERK1 and ERK2 cascade

20551055

HgeneEGFR

GO:0071392

cellular response to estradiol stimulus

20551055

HgeneEGFR

GO:1900020

positive regulation of protein kinase C activity

22732145

HgeneEGFR

GO:1903078

positive regulation of protein localization to plasma membrane

22732145


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
ChiTaRS3.1BG005213EGFRchr7

55272979

-PTPRFchr1

43996703

+
* 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-5UTRENST00000455089ENST00000359947EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000455089ENST00000438120EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000455089ENST00000372413EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000455089ENST00000372414EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000455089ENST00000422171EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000455089ENST00000496447EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000342916ENST00000359947EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000342916ENST00000438120EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000342916ENST00000372413EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000342916ENST00000372414EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000342916ENST00000422171EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000342916ENST00000496447EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000344576ENST00000359947EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000344576ENST00000438120EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000344576ENST00000372413EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000344576ENST00000372414EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000344576ENST00000422171EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000344576ENST00000496447EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000420316ENST00000359947EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000420316ENST00000438120EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000420316ENST00000372413EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000420316ENST00000372414EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000420316ENST00000422171EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000420316ENST00000496447EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-5UTRENST00000275493ENST00000359947EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-5UTRENST00000275493ENST00000438120EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-intronENST00000275493ENST00000372413EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-intronENST00000275493ENST00000372414EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-intronENST00000275493ENST00000422171EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-intronENST00000275493ENST00000496447EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000442591ENST00000359947EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000442591ENST00000438120EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000442591ENST00000372413EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000442591ENST00000372414EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000442591ENST00000422171EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000442591ENST00000496447EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000463948ENST00000359947EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-5UTRENST00000463948ENST00000438120EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000463948ENST00000372413EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000463948ENST00000372414EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000463948ENST00000422171EGFRchr7

55272979

-PTPRFchr1

43996703

+
intron-intronENST00000463948ENST00000496447EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-5UTRENST00000454757ENST00000359947EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-5UTRENST00000454757ENST00000438120EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-intronENST00000454757ENST00000372413EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-intronENST00000454757ENST00000372414EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-intronENST00000454757ENST00000422171EGFRchr7

55272979

-PTPRFchr1

43996703

+
5CDS-intronENST00000454757ENST00000496447EGFRchr7

55272979

-PTPRFchr1

43996703

+

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FusionProtFeatures for EGFR_PTPRF


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

P00533

PTPRF

P10586

Possible cell adhesion receptor. It possesses anintrinsic protein tyrosine phosphatase activity (PTPase) anddephosphorylates EPHA2 regulating its activity. The first PTPase domain has enzymatic activity, whilethe second one seems to affect the substrate specificity of thefirst one.

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 EGFR_PTPRF


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 EGFR_PTPRF


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


Top

RelatedDrugs for EGFR_PTPRF


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneEGFRP00533DB00002CetuximabEpidermal growth factor receptorbiotechapproved
HgeneEGFRP00533DB05294VandetanibEpidermal growth factor receptorsmall moleculeapproved
HgeneEGFRP00533DB08916AfatinibEpidermal growth factor receptorsmall moleculeapproved
HgeneEGFRP00533DB00072TrastuzumabEpidermal growth factor receptorbiotechapproved|investigational
HgeneEGFRP00533DB00317GefitinibEpidermal growth factor receptorsmall moleculeapproved|investigational
HgeneEGFRP00533DB00530ErlotinibEpidermal growth factor receptorsmall moleculeapproved|investigational
HgeneEGFRP00533DB01259LapatinibEpidermal growth factor receptorsmall moleculeapproved|investigational
HgeneEGFRP00533DB01269PanitumumabEpidermal growth factor receptorbiotechapproved|investigational
HgeneEGFRP00533DB09559NecitumumabEpidermal growth factor receptorbiotechapproved|investigational
HgeneEGFRP00533DB00281LidocaineEpidermal growth factor receptorsmall moleculeapproved|vet_approved

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RelatedDiseases for EGFR_PTPRF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEGFRC0007131Non-Small Cell Lung Carcinoma16CTD_human
HgeneEGFRC1458155Mammary Neoplasms6CTD_human
HgeneEGFRC0024121Lung Neoplasms5CTD_human
HgeneEGFRC0001418Adenocarcinoma4CTD_human
HgeneEGFRC0007137Squamous cell carcinoma3CTD_human
HgeneEGFRC0007873Uterine Cervical Neoplasm3CTD_human
HgeneEGFRC0014859Esophageal Neoplasms3CTD_human
HgeneEGFRC0017636Glioblastoma3CTD_human
HgeneEGFRC0018671Head and Neck Neoplasms3CTD_human
HgeneEGFRC0027627Neoplasm Metastasis3CTD_human
HgeneEGFRC0033578Prostatic Neoplasms3CTD_human
HgeneEGFRC0038356Stomach Neoplasms3CTD_human
HgeneEGFRC0005695Bladder Neoplasm2CTD_human
HgeneEGFRC0009375Colonic Neoplasms2CTD_human
HgeneEGFRC0009404Colorectal Neoplasms2CTD_human
HgeneEGFRC0024668Mammary Neoplasms, Experimental2CTD_human
HgeneEGFRC0027626Neoplasm Invasiveness2CTD_human
HgeneEGFRC0027643Neoplasm Recurrence, Local2CTD_human
HgeneEGFRC0152013Adenocarcinoma of lung (disorder)2CTD_human
HgeneEGFRC0919267ovarian neoplasm2CTD_human
HgeneEGFRC0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneEGFRC0005396Bile Duct Neoplasms1CTD_human
HgeneEGFRC0007193Cardiomyopathy, Dilated1CTD_human
HgeneEGFRC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneEGFRC0014175Endometriosis1CTD_human
HgeneEGFRC0016978gallbladder neoplasm1CTD_human
HgeneEGFRC0021655Insulin Resistance1CTD_human
HgeneEGFRC0024667Animal Mammary Neoplasms1CTD_human
HgeneEGFRC0024809Marijuana Abuse1PSYGENET
HgeneEGFRC0025500Mesothelioma1CTD_human
HgeneEGFRC0027439Nasopharyngeal Neoplasms1CTD_human
HgeneEGFRC0029463Osteosarcoma1CTD_human
HgeneEGFRC0030354Papilloma1CTD_human
HgeneEGFRC0032580Adenomatous Polyposis Coli1CTD_human
HgeneEGFRC0034885Rectal Neoplasms1CTD_human
HgeneEGFRC0041696Unipolar Depression1PSYGENET
HgeneEGFRC0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
HgeneEGFRC0085762Alcohol abuse1PSYGENET
HgeneEGFRC0149925Small cell carcinoma of lung1CTD_human
HgeneEGFRC0206686Adrenocortical carcinoma1CTD_human
HgeneEGFRC0206698Cholangiocarcinoma1CTD_human
HgeneEGFRC0263454Chloracne1CTD_human
HgeneEGFRC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneEGFRC0345967Malignant mesothelioma1CTD_human
HgeneEGFRC0376634Craniofacial Abnormalities1CTD_human
HgeneEGFRC0993582Arthritis, Experimental1CTD_human
HgeneEGFRC1269683Major Depressive Disorder1PSYGENET
HgeneEGFRC2239176Liver carcinoma1CTD_human
HgeneEGFRC2609414Acute kidney injury1CTD_human
HgeneEGFRC4015130INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 21UNIPROT
TgenePTPRFC0038356Stomach Neoplasms1CTD_human
TgenePTPRFC0345967Malignant mesothelioma1CTD_human