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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: 28168

FusionGeneSummary for PPFIA3_ERBB2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPFIA3_ERBB2
Fusion gene ID: 28168
HgeneTgene
Gene symbol

PPFIA3

ERBB2

Gene ID

8541

2064

Gene namePTPRF interacting protein alpha 3erb-b2 receptor tyrosine kinase 2
SynonymsLPNA3CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1
Cytomap

19q13.33

17q12

Type of geneprotein-codingprotein-coding
Descriptionliprin-alpha-3liprinprotein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3protein tyrosine phosphatase, receptor typreceptor tyrosine-protein kinase erbB-2c-erb B2/neu proteinherstatinhuman epidermal growth factor receptor 2metastatic lymph node gene 19 proteinneuro/glioblastoma derived oncogene homologneuroblastoma/glioblastoma derived oncogene homologp185erbB2
Modification date2018052220180527
UniProtAcc

O75145

P04626

Ensembl transtripts involved in fusion geneENST00000334186, ENST00000602351, 
ENST00000584601, ENST00000406381, 
ENST00000541774, ENST00000445658, 
ENST00000540147, ENST00000584450, 
ENST00000269571, ENST00000578199, 
ENST00000540042, ENST00000584888, 
Fusion gene scores* DoF score3 X 2 X 3=1817 X 14 X 7=1666
# samples 318
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(18/1666*10)=-3.21031958903587
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPFIA3 [Title/Abstract] AND ERBB2 [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
TgeneERBB2

GO:0007165

signal transduction

10572067

TgeneERBB2

GO:0007166

cell surface receptor signaling pathway

9685399

TgeneERBB2

GO:0007169

transmembrane receptor protein tyrosine kinase signaling pathway

7514177

TgeneERBB2

GO:0014065

phosphatidylinositol 3-kinase signaling

7556068

TgeneERBB2

GO:0032886

regulation of microtubule-based process

20937854

TgeneERBB2

GO:0042060

wound healing

12646923

TgeneERBB2

GO:0043406

positive regulation of MAP kinase activity

10572067

TgeneERBB2

GO:0045785

positive regulation of cell adhesion

7556068

TgeneERBB2

GO:0045945

positive regulation of transcription by RNA polymerase III

19372587

TgeneERBB2

GO:0046777

protein autophosphorylation

7556068

TgeneERBB2

GO:0050679

positive regulation of epithelial cell proliferation

10572067

TgeneERBB2

GO:0071363

cellular response to growth factor stimulus

20010870

TgeneERBB2

GO:0090314

positive regulation of protein targeting to membrane

20010870


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
ChiTaRS3.1BF837831PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
* 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
3UTR-3CDSENST00000334186ENST00000584601PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000334186ENST00000406381PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000334186ENST00000541774PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000334186ENST00000445658PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000334186ENST00000540147PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000334186ENST00000584450PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000334186ENST00000269571PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-intronENST00000334186ENST00000578199PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-intronENST00000334186ENST00000540042PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-intronENST00000334186ENST00000584888PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000602351ENST00000584601PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000602351ENST00000406381PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000602351ENST00000541774PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000602351ENST00000445658PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000602351ENST00000540147PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000602351ENST00000584450PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-3CDSENST00000602351ENST00000269571PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-intronENST00000602351ENST00000578199PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-intronENST00000602351ENST00000540042PPFIA3chr19

49653673

-ERBB2chr17

37881146

-
3UTR-intronENST00000602351ENST00000584888PPFIA3chr19

49653673

-ERBB2chr17

37881146

-

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FusionProtFeatures for PPFIA3_ERBB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPFIA3

O75145

ERBB2

P04626

May regulate the disassembly of focal adhesions. Maylocalize receptor-like tyrosine phosphatases type 2A at specificsites on the plasma membrane, possibly regulating theirinteraction with the extracellular environment and theirassociation with substrates. {ECO:0000269|PubMed:9624153}. Protein tyrosine kinase that is part of several cellsurface receptor complexes, but that apparently needs a coreceptorfor ligand binding. Essential component of a neuregulin-receptorcomplex, although neuregulins do not interact with it alone. GP30is a potential ligand for this receptor. Regulates outgrowth andstabilization of peripheral microtubules (MTs). Upon ERBB2activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits thephosphorylation and thus the inhibition of GSK3B at cell membrane.This prevents the phosphorylation of APC and CLASP2, allowing itsassociation with the cell membrane. In turn, membrane-bound APCallows the localization of MACF1 to the cell membrane, which isrequired for microtubule capture and stabilization. {ECO:0000305}. In the nucleus is involved in transcriptionalregulation. Associates with the 5'-TCAAATTC-3' sequence in thePTGS2/COX-2 promoter and activates its transcription. Implicatedin transcriptional activation of CDKN1A; the function involvesSTAT3 and SRC. Involved in the transcription of rRNA genes by RNAPol I and enhances protein synthesis and cell growth.{ECO:0000269|PubMed:10358079, ECO:0000269|PubMed:15380516,ECO:0000269|PubMed:21555369}.

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 PPFIA3_ERBB2


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 PPFIA3_ERBB2


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 PPFIA3_ERBB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneERBB2P04626DB06366PertuzumabReceptor tyrosine-protein kinase erbB-2biotechapproved
TgeneERBB2P04626DB08916AfatinibReceptor tyrosine-protein kinase erbB-2small moleculeapproved
TgeneERBB2P04626DB00072TrastuzumabReceptor tyrosine-protein kinase erbB-2biotechapproved|investigational
TgeneERBB2P04626DB01259LapatinibReceptor tyrosine-protein kinase erbB-2small moleculeapproved|investigational
TgeneERBB2P04626DB05773Trastuzumab emtansineReceptor tyrosine-protein kinase erbB-2biotechapproved|investigational

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RelatedDiseases for PPFIA3_ERBB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneERBB2C1458155Mammary Neoplasms40CTD_human
TgeneERBB2C0033578Prostatic Neoplasms3CTD_human
TgeneERBB2C0038356Stomach Neoplasms3CTD_human
TgeneERBB2C0001418Adenocarcinoma2CTD_human
TgeneERBB2C0024668Mammary Neoplasms, Experimental2CTD_human
TgeneERBB2C0919267ovarian neoplasm2CTD_human
TgeneERBB2C0007117Basal cell carcinoma1CTD_human
TgeneERBB2C0007134Renal Cell Carcinoma1CTD_human
TgeneERBB2C0009375Colonic Neoplasms1CTD_human
TgeneERBB2C0014859Esophageal Neoplasms1CTD_human
TgeneERBB2C0016978gallbladder neoplasm1CTD_human
TgeneERBB2C0017185Gastrointestinal Neoplasms1CTD_human
TgeneERBB2C0024121Lung Neoplasms1CTD_human
TgeneERBB2C0024232Lymphatic Metastasis1CTD_human
TgeneERBB2C0024667Animal Mammary Neoplasms1CTD_human
TgeneERBB2C0025149Medulloblastoma1CTD_human
TgeneERBB2C0027627Neoplasm Metastasis1CTD_human
TgeneERBB2C0027643Neoplasm Recurrence, Local1CTD_human
TgeneERBB2C0027659Neoplasms, Experimental1CTD_human
TgeneERBB2C0030354Papilloma1CTD_human
TgeneERBB2C0206698Cholangiocarcinoma1CTD_human
TgeneERBB2C0596263Carcinogenesis1CTD_human
TgeneERBB2C2931822Nasopharyngeal carcinoma1CTD_human