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:ERBB2-CD99 (FusionGDB2 ID:27141)

Fusion Gene Summary for ERBB2-CD99

check button Fusion gene summary
Fusion gene informationFusion gene name: ERBB2-CD99
Fusion gene ID: 27141
HgeneTgene
Gene symbol

ERBB2

CD99

Gene ID

2064

4267

Gene nameerb-b2 receptor tyrosine kinase 2CD99 molecule (Xg blood group)
SynonymsCD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1HBA71|MIC2|MIC2X|MIC2Y|MSK5X
Cytomap

17q12

Xp22.33 and Yp11.2

Type of geneprotein-codingprotein-coding
Descriptionreceptor 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 homologp185erbB2CD99 antigenE2 antigenMIC2 (monoclonal antibody 12E7)T-cell surface glycoprotein E2antigen identified by monoclonal 12E7, Y homologantigen identified by monoclonal antibodies 12E7, F21 and O13cell surface antigen 12E7cell surface antigen HBA-71cel
Modification date2020032920200313
UniProtAcc

P04626

Q8TCZ2

Ensembl transtripts involved in fusion geneENST00000269571, ENST00000406381, 
ENST00000445658, ENST00000540042, 
ENST00000540147, ENST00000541774, 
ENST00000578199, ENST00000584450, 
ENST00000584601, ENST00000584888, 
ENST00000381180, ENST00000381184, 
ENST00000381187, ENST00000381192, 
ENST00000482405, 
Fusion gene scores* DoF score50 X 44 X 14=3080027 X 20 X 5=2700
# samples 7329
** MAII scorelog2(73/30800*10)=-5.39889007670225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(29/2700*10)=-3.21883460192326
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERBB2 [Title/Abstract] AND CD99 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointERBB2(37874310)-CD99(2586265), # 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
HgeneERBB2

GO:0007165

signal transduction

10572067

HgeneERBB2

GO:0007166

cell surface receptor signaling pathway

9685399

HgeneERBB2

GO:0007169

transmembrane receptor protein tyrosine kinase signaling pathway

7514177

HgeneERBB2

GO:0014065

phosphatidylinositol 3-kinase signaling

7556068

HgeneERBB2

GO:0018108

peptidyl-tyrosine phosphorylation

12000754

HgeneERBB2

GO:0032886

regulation of microtubule-based process

20937854

HgeneERBB2

GO:0035556

intracellular signal transduction

19372587

HgeneERBB2

GO:0042060

wound healing

12646923

HgeneERBB2

GO:0043406

positive regulation of MAP kinase activity

10572067

HgeneERBB2

GO:0045785

positive regulation of cell adhesion

7556068

HgeneERBB2

GO:0046777

protein autophosphorylation

7556068

HgeneERBB2

GO:0050679

positive regulation of epithelial cell proliferation

10572067

HgeneERBB2

GO:0071363

cellular response to growth factor stimulus

20010870

HgeneERBB2

GO:0090314

positive regulation of protein targeting to membrane

20010870


check buttonFusion gene breakpoints across ERBB2 (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 CD99 (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
ChiTaRS5.0N/ABI045492ERBB2chr17

37874310

-CD99chrY

2586265

-


Top

Fusion Gene ORF analysis for ERBB2-CD99

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-intronENST00000269571ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000269571ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000269571ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000269571ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000269571ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000406381ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000406381ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000406381ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000406381ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000406381ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000445658ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000445658ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000445658ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000445658ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000445658ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540042ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540042ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540042ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540042ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540042ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540147ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540147ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540147ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540147ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000540147ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000541774ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000541774ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000541774ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000541774ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000541774ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000578199ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000578199ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000578199ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000578199ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000578199ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584450ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584450ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584450ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584450ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584450ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584601ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584601ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584601ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584601ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584601ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584888ENST00000381180ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584888ENST00000381184ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584888ENST00000381187ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584888ENST00000381192ERBB2chr17

37874310

-CD99chrY

2586265

-
intron-intronENST00000584888ENST00000482405ERBB2chr17

37874310

-CD99chrY

2586265

-

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 ERBB2-CD99


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)

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.

Top

Fusion Protein Features for ERBB2-CD99


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/:37874310/:2586265)
- 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

CD99

Q8TCZ2

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}.FUNCTION: Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (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


Top

Fusion Gene Sequence for ERBB2-CD99


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 ERBB2-CD99


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 ERBB2-CD99


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 ERBB2-CD99


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