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Center for Computational Systems Medicine
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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:CAB39-ERBB2 (FusionGDB2 ID:HG51719TG2064)

Fusion Gene Summary for CAB39-ERBB2

check button Fusion gene summary
Fusion gene informationFusion gene name: CAB39-ERBB2
Fusion gene ID: hg51719tg2064
HgeneTgene
Gene symbol

CAB39

ERBB2

Gene ID

51719

2064

Gene namecalcium binding protein 39erb-b2 receptor tyrosine kinase 2
SynonymsCGI-66|MO25CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1
Cytomap('CAB39')('ERBB2')

2q37.1

17q12

Type of geneprotein-codingprotein-coding
Descriptioncalcium-binding protein 39MO25alphareceptor 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..
Ensembl transtripts involved in fusion geneENST00000258418, ENST00000409788, 
ENST00000410084, ENST00000484398, 
Fusion gene scores* DoF score7 X 4 X 5=14034 X 40 X 10=13600
# samples 943
** MAII scorelog2(9/140*10)=-0.637429920615292
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: CAB39 [Title/Abstract] AND ERBB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAB39(231577945)-ERBB2(37863242), # 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
HgeneCAB39

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

24393035

HgeneCAB39

GO:0018105

peptidyl-serine phosphorylation

24393035

HgeneCAB39

GO:0023014

signal transduction by protein phosphorylation

24393035

HgeneCAB39

GO:0035556

intracellular signal transduction

24393035

HgeneCAB39

GO:0071902

positive regulation of protein serine/threonine kinase activity

19892943|24393035

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 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
ChimerDB4STADTCGA-BR-4357CAB39chr2

231577945

+ERBB2chr17

37863242

+


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Fusion Gene ORF analysis for CAB39-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
5UTR-5UTRENST00000258418ENST00000269571CAB39chr2

231577945

+ERBB2chr17

37863242

+
5UTR-5UTRENST00000258418ENST00000406381CAB39chr2

231577945

+ERBB2chr17

37863242

+
5UTR-5UTRENST00000258418ENST00000540042CAB39chr2

231577945

+ERBB2chr17

37863242

+
5UTR-5UTRENST00000258418ENST00000540147CAB39chr2

231577945

+ERBB2chr17

37863242

+
5UTR-5UTRENST00000258418ENST00000541774CAB39chr2

231577945

+ERBB2chr17

37863242

+
5UTR-5UTRENST00000258418ENST00000578199CAB39chr2

231577945

+ERBB2chr17

37863242

+
5UTR-5UTRENST00000258418ENST00000584450CAB39chr2

231577945

+ERBB2chr17

37863242

+
5UTR-5UTRENST00000258418ENST00000584601CAB39chr2

231577945

+ERBB2chr17

37863242

+
5UTR-intronENST00000258418ENST00000445658CAB39chr2

231577945

+ERBB2chr17

37863242

+
5UTR-intronENST00000258418ENST00000584888CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000409788ENST00000269571CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000409788ENST00000406381CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000409788ENST00000540042CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000409788ENST00000540147CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000409788ENST00000541774CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000409788ENST00000578199CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000409788ENST00000584450CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000409788ENST00000584601CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000410084ENST00000269571CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000410084ENST00000406381CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000410084ENST00000540042CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000410084ENST00000540147CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000410084ENST00000541774CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000410084ENST00000578199CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000410084ENST00000584450CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000410084ENST00000584601CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000484398ENST00000269571CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000484398ENST00000406381CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000484398ENST00000540042CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000484398ENST00000540147CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000484398ENST00000541774CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000484398ENST00000578199CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000484398ENST00000584450CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-5UTRENST00000484398ENST00000584601CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-intronENST00000409788ENST00000445658CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-intronENST00000409788ENST00000584888CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-intronENST00000410084ENST00000445658CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-intronENST00000410084ENST00000584888CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-intronENST00000484398ENST00000445658CAB39chr2

231577945

+ERBB2chr17

37863242

+
intron-intronENST00000484398ENST00000584888CAB39chr2

231577945

+ERBB2chr17

37863242

+

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 CAB39-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)
CAB39chr2231577945+ERBB2chr1737863242+7.29E-151
CAB39chr2231577945+ERBB2chr1737863242+7.29E-151


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%

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Fusion Protein Features for CAB39-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/:231577945/:37863242)
- 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 CAB39-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.

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Fusion Gene PPI Analysis for CAB39-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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Related Drugs for CAB39-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

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Related Diseases for CAB39-ERBB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0006142Malignant neoplasm of breast40CGI;CTD_human
TgeneC0678222Breast Carcinoma40CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human40CTD_human
TgeneC1458155Mammary Neoplasms40CTD_human
TgeneC4704874Mammary Carcinoma, Human40CTD_human
TgeneC1140680Malignant neoplasm of ovary4CGI;CTD_human;UNIPROT
TgeneC0024623Malignant neoplasm of stomach3CGI;CTD_human
TgeneC0033578Prostatic Neoplasms3CTD_human
TgeneC0038356Stomach Neoplasms3CGI;CTD_human
TgeneC0235874Disease Exacerbation3CTD_human
TgeneC0376358Malignant neoplasm of prostate3CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer3CTD_human
TgeneC0001418Adenocarcinoma2CTD_human
TgeneC0024668Mammary Neoplasms, Experimental2CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell2CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic2CTD_human
TgeneC0205643Carcinoma, Cribriform2CTD_human
TgeneC0205644Carcinoma, Granular Cell2CTD_human
TgeneC0205645Adenocarcinoma, Tubular2CTD_human
TgeneC0699791Stomach Carcinoma2CGI;UNIPROT
TgeneC0919267ovarian neoplasm2CGI;CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0013930Embolism, Tumor1CTD_human
TgeneC0014859Esophageal Neoplasms1CTD_human
TgeneC0016978gallbladder neoplasm1CTD_human
TgeneC0017185Gastrointestinal Neoplasms1CTD_human
TgeneC0021367Mammary Ductal Carcinoma1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024232Lymphatic Metastasis1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0025149Medulloblastoma1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027643Neoplasm Recurrence, Local1CTD_human
TgeneC0027659Neoplasms, Experimental1CTD_human
TgeneC0030354Papilloma1CTD_human
TgeneC0153452Malignant neoplasm of gallbladder1CTD_human
TgeneC0205833Medullomyoblastoma1CTD_human
TgeneC0205874Papilloma, Squamous Cell1CTD_human
TgeneC0205875Papillomatosis1CTD_human
TgeneC0206698Cholangiocarcinoma1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0278510Childhood Medulloblastoma1CTD_human
TgeneC0278876Adult Medulloblastoma1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgeneC0546837Malignant neoplasm of esophagus1CTD_human
TgeneC0596263Carcinogenesis1CTD_human
TgeneC0684249Carcinoma of lung1UNIPROT
TgeneC0685938Malignant neoplasm of gastrointestinal tract1CTD_human
TgeneC0751291Desmoplastic Medulloblastoma1CTD_human
TgeneC1134719Invasive Ductal Breast Carcinoma1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1275668Melanotic medulloblastoma1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1368275Pigmented Basal Cell Carcinoma1CTD_human
TgeneC2750850GLIOMA SUSCEPTIBILITY 11UNIPROT
TgeneC2931822Nasopharyngeal carcinoma1CTD_human
TgeneC3805278Extrahepatic Cholangiocarcinoma1CTD_human
TgeneC4721610Carcinoma, Ovarian Epithelial1CTD_human
TgeneC4721806Carcinoma, Basal Cell1CTD_human