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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ERBB2-CD99 (FusionGDB2 ID:HG2064TG4267)

Fusion Gene Summary for ERBB2-CD99

check button Fusion gene summary
Fusion gene informationFusion gene name: ERBB2-CD99
Fusion gene ID: hg2064tg4267
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('ERBB2')('CD99')

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..
Ensembl transtripts involved in fusion geneENST00000269571, ENST00000406381, 
ENST00000445658, ENST00000540042, 
ENST00000540147, ENST00000541774, 
ENST00000578199, ENST00000584450, 
ENST00000584601, ENST00000584888, 
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 button Fusion gene information
* 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


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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

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

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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)


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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
..
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: 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}.

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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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.

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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


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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

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Related Diseases for ERBB2-CD99


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERBB2C0006142Malignant neoplasm of breast40CGI;CTD_human
HgeneERBB2C0678222Breast Carcinoma40CGI;CTD_human
HgeneERBB2C1257931Mammary Neoplasms, Human40CTD_human
HgeneERBB2C1458155Mammary Neoplasms40CTD_human
HgeneERBB2C4704874Mammary Carcinoma, Human40CTD_human
HgeneERBB2C1140680Malignant neoplasm of ovary4CGI;CTD_human;UNIPROT
HgeneERBB2C0024623Malignant neoplasm of stomach3CGI;CTD_human
HgeneERBB2C0033578Prostatic Neoplasms3CTD_human
HgeneERBB2C0038356Stomach Neoplasms3CGI;CTD_human
HgeneERBB2C0235874Disease Exacerbation3CTD_human
HgeneERBB2C0376358Malignant neoplasm of prostate3CTD_human
HgeneERBB2C1708349Hereditary Diffuse Gastric Cancer3CTD_human
HgeneERBB2C0001418Adenocarcinoma2CTD_human
HgeneERBB2C0024668Mammary Neoplasms, Experimental2CTD_human
HgeneERBB2C0205641Adenocarcinoma, Basal Cell2CTD_human
HgeneERBB2C0205642Adenocarcinoma, Oxyphilic2CTD_human
HgeneERBB2C0205643Carcinoma, Cribriform2CTD_human
HgeneERBB2C0205644Carcinoma, Granular Cell2CTD_human
HgeneERBB2C0205645Adenocarcinoma, Tubular2CTD_human
HgeneERBB2C0699791Stomach Carcinoma2CGI;UNIPROT
HgeneERBB2C0919267ovarian neoplasm2CGI;CTD_human
HgeneERBB2C0007102Malignant tumor of colon1CTD_human
HgeneERBB2C0007134Renal Cell Carcinoma1CTD_human
HgeneERBB2C0009375Colonic Neoplasms1CTD_human
HgeneERBB2C0013930Embolism, Tumor1CTD_human
HgeneERBB2C0014859Esophageal Neoplasms1CTD_human
HgeneERBB2C0016978gallbladder neoplasm1CTD_human
HgeneERBB2C0017185Gastrointestinal Neoplasms1CTD_human
HgeneERBB2C0021367Mammary Ductal Carcinoma1CTD_human
HgeneERBB2C0024121Lung Neoplasms1CTD_human
HgeneERBB2C0024232Lymphatic Metastasis1CTD_human
HgeneERBB2C0024667Animal Mammary Neoplasms1CTD_human
HgeneERBB2C0025149Medulloblastoma1CTD_human
HgeneERBB2C0027627Neoplasm Metastasis1CTD_human
HgeneERBB2C0027643Neoplasm Recurrence, Local1CTD_human
HgeneERBB2C0027659Neoplasms, Experimental1CTD_human
HgeneERBB2C0030354Papilloma1CTD_human
HgeneERBB2C0153452Malignant neoplasm of gallbladder1CTD_human
HgeneERBB2C0205833Medullomyoblastoma1CTD_human
HgeneERBB2C0205874Papilloma, Squamous Cell1CTD_human
HgeneERBB2C0205875Papillomatosis1CTD_human
HgeneERBB2C0206698Cholangiocarcinoma1CTD_human
HgeneERBB2C0242379Malignant neoplasm of lung1CTD_human
HgeneERBB2C0278510Childhood Medulloblastoma1CTD_human
HgeneERBB2C0278876Adult Medulloblastoma1CTD_human
HgeneERBB2C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneERBB2C0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgeneERBB2C0546837Malignant neoplasm of esophagus1CTD_human
HgeneERBB2C0596263Carcinogenesis1CTD_human
HgeneERBB2C0684249Carcinoma of lung1UNIPROT
HgeneERBB2C0685938Malignant neoplasm of gastrointestinal tract1CTD_human
HgeneERBB2C0751291Desmoplastic Medulloblastoma1CTD_human
HgeneERBB2C1134719Invasive Ductal Breast Carcinoma1CTD_human
HgeneERBB2C1257925Mammary Carcinoma, Animal1CTD_human
HgeneERBB2C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneERBB2C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneERBB2C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneERBB2C1275668Melanotic medulloblastoma1CTD_human
HgeneERBB2C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneERBB2C1368275Pigmented Basal Cell Carcinoma1CTD_human
HgeneERBB2C2750850GLIOMA SUSCEPTIBILITY 11UNIPROT
HgeneERBB2C2931822Nasopharyngeal carcinoma1CTD_human
HgeneERBB2C3805278Extrahepatic Cholangiocarcinoma1CTD_human
HgeneERBB2C4721610Carcinoma, Ovarian Epithelial1CTD_human
HgeneERBB2C4721806Carcinoma, Basal Cell1CTD_human
TgeneC0206637Mesenchymal Chondrosarcoma1CTD_human