FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:PIP4K2B-ERBB2 (FusionGDB2 ID:65482)

Fusion Gene Summary for PIP4K2B-ERBB2

check button Fusion gene summary
Fusion gene informationFusion gene name: PIP4K2B-ERBB2
Fusion gene ID: 65482
HgeneTgene
Gene symbol

PIP4K2B

ERBB2

Gene ID

8396

2064

Gene namephosphatidylinositol-5-phosphate 4-kinase type 2 betaerb-b2 receptor tyrosine kinase 2
SynonymsPI5P4KB|PIP5K2B|PIP5KIIB|PIP5KIIbeta|PIP5P4KBCD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1
Cytomap

17q12

17q12

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 5-phosphate 4-kinase type-2 beta1-phosphatidylinositol 5-phosphate 4-kinase 2-beta1-phosphatidylinositol-4-phosphate kinasePI(5)P 4-kinase type II betaPIP4KII-betaPTDINS(4)P-5-kinasediphosphoinositide kinase 2-betaphosphatidylireceptor 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 date2020031320200329
UniProtAcc.

P04626

Ensembl transtripts involved in fusion geneENST00000269554, ENST00000311500, 
ENST00000584601, ENST00000269571, 
ENST00000406381, ENST00000445658, 
ENST00000540042, ENST00000540147, 
ENST00000541774, ENST00000578199, 
ENST00000584450, ENST00000584888, 
Fusion gene scores* DoF score19 X 16 X 5=152034 X 40 X 10=13600
# samples 2143
** MAII scorelog2(21/1520*10)=-2.85561009066483
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(43/13600*10)=-4.9831261814356
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PIP4K2B [Title/Abstract] AND ERBB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPIP4K2B(36955519)-ERBB2(37855790), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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:0018108

peptidyl-tyrosine phosphorylation

12000754

TgeneERBB2

GO:0032886

regulation of microtubule-based process

20937854

TgeneERBB2

GO:0035556

intracellular signal transduction

19372587

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: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 buttonFusion gene breakpoints across PIP4K2B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ERBB2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A8-A08X-01APIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+


Top

Fusion Gene ORF analysis for PIP4K2B-ERBB2

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
5CDS-5UTRENST00000269554ENST00000584601PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5CDS-intronENST00000269554ENST00000269571PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5CDS-intronENST00000269554ENST00000406381PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5CDS-intronENST00000269554ENST00000445658PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5CDS-intronENST00000269554ENST00000540042PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5CDS-intronENST00000269554ENST00000540147PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5CDS-intronENST00000269554ENST00000541774PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5CDS-intronENST00000269554ENST00000578199PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5CDS-intronENST00000269554ENST00000584450PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5CDS-intronENST00000269554ENST00000584888PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-5UTRENST00000311500ENST00000584601PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-intronENST00000311500ENST00000269571PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-intronENST00000311500ENST00000406381PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-intronENST00000311500ENST00000445658PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-intronENST00000311500ENST00000540042PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-intronENST00000311500ENST00000540147PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-intronENST00000311500ENST00000541774PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-intronENST00000311500ENST00000578199PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-intronENST00000311500ENST00000584450PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+
5UTR-intronENST00000311500ENST00000584888PIP4K2Bchr17

36955519

-ERBB2chr17

37855790

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for PIP4K2B-ERBB2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PIP4K2Bchr1736955518-ERBB2chr1737855789+1.51E-070.9999999
PIP4K2Bchr1736955518-ERBB2chr1737855789+1.51E-070.9999999

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for PIP4K2B-ERBB2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:36955519/:37855790)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ERBB2

P04626

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization. {ECO:0000305}.; FUNCTION: In the nucleus is involved in transcriptional regulation. Associates with the 5'-TCAAATTC-3' sequence in the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol 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


Top

Fusion Gene Sequence for PIP4K2B-ERBB2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for PIP4K2B-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


Top

Related Drugs for PIP4K2B-ERBB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for PIP4K2B-ERBB2


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