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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ERBB3-COX4I2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ERBB3-COX4I2
FusionPDB ID: 27207
FusionGDB2.0 ID: 27207
HgeneTgene
Gene symbol

ERBB3

COX4I2

Gene ID

2065

84701

Gene nameerb-b2 receptor tyrosine kinase 3cytochrome c oxidase subunit 4I2
SynonymsErbB-3|FERLK|HER3|LCCS2|MDA-BF-1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3COX4|COX4-2|COX4B|COX4L2|COXIV-2|dJ857M17.2
Cytomap

12q13.2

20q11.21

Type of geneprotein-codingprotein-coding
Descriptionreceptor tyrosine-protein kinase erbB-3human epidermal growth factor receptor 3proto-oncogene-like protein c-ErbB-3tyrosine kinase-type cell surface receptor HER3v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3cytochrome c oxidase subunit 4 isoform 2, mitochondrialCOX IV-2cytochrome c oxidase subunit IV isoform 2 (lung)cytochrome c oxidase subunit IV-like 2
Modification date2020032720200313
UniProtAcc

P21860

.
Ensembl transtripts involved in fusion geneENST idsENST00000267101, ENST00000411731, 
ENST00000415288, ENST00000450146, 
ENST00000549832, ENST00000553131, 
ENST00000490030, ENST00000376075, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 18 X 11=31683 X 5 X 3=45
# samples 195
** MAII scorelog2(19/3168*10)=-4.05950101174866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ERBB3 [Title/Abstract] AND COX4I2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ERBB3(56474166)-COX4I2(30231207), # samples:3
Anticipated loss of major functional domain due to fusion event.ERBB3-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ERBB3-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ERBB3-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ERBB3-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ERBB3-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
ERBB3-COX4I2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneERBB3

GO:0007162

negative regulation of cell adhesion

7556068

HgeneERBB3

GO:0007165

signal transduction

10572067

HgeneERBB3

GO:0009968

negative regulation of signal transduction

11389077

HgeneERBB3

GO:0014065

phosphatidylinositol 3-kinase signaling

7556068

HgeneERBB3

GO:0042127

regulation of cell proliferation

11389077

HgeneERBB3

GO:0051048

negative regulation of secretion

10559227


check buttonFusion gene breakpoints across ERBB3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across COX4I2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4UCECTCGA-AJ-A3I9-01AERBB3chr12

56474166

-COX4I2chr20

30231207

+
ChimerDB4UCECTCGA-AJ-A3I9-01AERBB3chr12

56474166

+COX4I2chr20

30231207

+
ChimerDB4UCECTCGA-AJ-A3I9-01AERBB3chr12

56474166

+COX4I2chr20

30232571

+
ChimerDB4UCECTCGA-AJ-A3I9ERBB3chr12

56474166

+COX4I2chr20

30231206

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000267101ERBB3chr1256474166+ENST00000376075COX4I2chr2030231207+893522874245209
ENST00000411731ERBB3chr1256474166+ENST00000376075COX4I2chr2030231207+6172465982199
ENST00000267101ERBB3chr1256474166+ENST00000376075COX4I2chr2030231206+893522874245209
ENST00000411731ERBB3chr1256474166+ENST00000376075COX4I2chr2030231206+6172465982199

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
ENST00000267101ENST00000376075ERBB3chr1256474166+COX4I2chr2030231207+0.0326493870.9673506
ENST00000411731ENST00000376075ERBB3chr1256474166+COX4I2chr2030231207+0.020707370.97929263
ENST00000267101ENST00000376075ERBB3chr1256474166+COX4I2chr2030231206+0.0326493870.9673506
ENST00000411731ENST00000376075ERBB3chr1256474166+COX4I2chr2030231206+0.020707370.97929263

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>27207_27207_1_ERBB3-COX4I2_ERBB3_chr12_56474166_ENST00000267101_COX4I2_chr20_30231206_ENST00000376075_length(amino acids)=209AA_BP=1
MGLRAGEGRGRQRLPARAEPQGDSWGCKSLLPLLLLIVPAGGQALHRIHLHVQHALQLLGFPLVRQGDRLWRKYVDPLPPNHQSCESNEE
EDTTHHCLPLIGATVHLRKGLIELEPVHCLRVAHLGAPGQAEKQAQHLQSVVRPHDSAEGEGSPAKSGPGAPRLGHRGKSHLNRWRIGGC

--------------------------------------------------------------

>27207_27207_2_ERBB3-COX4I2_ERBB3_chr12_56474166_ENST00000267101_COX4I2_chr20_30231207_ENST00000376075_length(amino acids)=209AA_BP=1
MGLRAGEGRGRQRLPARAEPQGDSWGCKSLLPLLLLIVPAGGQALHRIHLHVQHALQLLGFPLVRQGDRLWRKYVDPLPPNHQSCESNEE
EDTTHHCLPLIGATVHLRKGLIELEPVHCLRVAHLGAPGQAEKQAQHLQSVVRPHDSAEGEGSPAKSGPGAPRLGHRGKSHLNRWRIGGC

--------------------------------------------------------------

>27207_27207_3_ERBB3-COX4I2_ERBB3_chr12_56474166_ENST00000411731_COX4I2_chr20_30231206_ENST00000376075_length(amino acids)=199AA_BP=1
MGLRAGEGRGRQRLPARAEPQGDSWGCKSLLPLLLLIVPAGGQALHRIHLHVQHALQLLGFPLVRQGDRLWRKYVDPLPPNHQSCESNEE
EDTTHHCLPLIGATVHLRKGLIELEPVHCLRVAHLGAPGQAEKQAQHLQSVVRPHDSAEGEGSPAKSGPGAPRLGHRGKSHLNRWRIGGC

--------------------------------------------------------------

>27207_27207_4_ERBB3-COX4I2_ERBB3_chr12_56474166_ENST00000411731_COX4I2_chr20_30231207_ENST00000376075_length(amino acids)=199AA_BP=1
MGLRAGEGRGRQRLPARAEPQGDSWGCKSLLPLLLLIVPAGGQALHRIHLHVQHALQLLGFPLVRQGDRLWRKYVDPLPPNHQSCESNEE
EDTTHHCLPLIGATVHLRKGLIELEPVHCLRVAHLGAPGQAEKQAQHLQSVVRPHDSAEGEGSPAKSGPGAPRLGHRGKSHLNRWRIGGC

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr12:56474166/chr20:30231207)
- 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
ERBB3

P21860

.
FUNCTION: Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134). Involved in the regulation of myeloid cell differentiation (PubMed:27416908). {ECO:0000269|PubMed:15358134, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:27416908}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCOX4I2chr12:56474166chr20:30231206ENST0000037607525127_17182.33333333333333172.0Topological domainMitochondrial intermembrane
TgeneCOX4I2chr12:56474166chr20:30231207ENST0000037607525127_17182.33333333333333172.0Topological domainMitochondrial intermembrane
TgeneCOX4I2chr12:56474166chr20:30231206ENST0000037607525101_12682.33333333333333172.0TransmembraneHelical
TgeneCOX4I2chr12:56474166chr20:30231207ENST0000037607525101_12682.33333333333333172.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneERBB3chr12:56474166chr20:30231206ENST00000267101+128709_96627.3333333333333321343.0DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231206ENST00000411731+13709_96627.333333333333332184.0DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231206ENST00000415288+129709_96601284.0DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231206ENST00000450146+115709_9660700.0DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128709_96627.3333333333333321343.0DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13709_96627.333333333333332184.0DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129709_96601284.0DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115709_9660700.0DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231206ENST00000267101+128715_72327.3333333333333321343.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000267101+128788_79027.3333333333333321343.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000267101+128834_83927.3333333333333321343.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000411731+13715_72327.333333333333332184.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000411731+13788_79027.333333333333332184.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000411731+13834_83927.333333333333332184.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000415288+129715_72301284.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000415288+129788_79001284.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000415288+129834_83901284.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000450146+115715_7230700.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000450146+115788_7900700.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000450146+115834_8390700.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128715_72327.3333333333333321343.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128788_79027.3333333333333321343.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128834_83927.3333333333333321343.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13715_72327.333333333333332184.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13788_79027.333333333333332184.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13834_83927.333333333333332184.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129715_72301284.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129788_79001284.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129834_83901284.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115715_7230700.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115788_7900700.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115834_8390700.0Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231206ENST00000267101+12820_64327.3333333333333321343.0Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231206ENST00000267101+128665_134227.3333333333333321343.0Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231206ENST00000411731+1320_64327.333333333333332184.0Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231206ENST00000411731+13665_134227.333333333333332184.0Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231206ENST00000415288+12920_64301284.0Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231206ENST00000415288+129665_134201284.0Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231206ENST00000450146+11520_6430700.0Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231206ENST00000450146+115665_13420700.0Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+12820_64327.3333333333333321343.0Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128665_134227.3333333333333321343.0Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+1320_64327.333333333333332184.0Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13665_134227.333333333333332184.0Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+12920_64301284.0Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129665_134201284.0Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+11520_6430700.0Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115665_13420700.0Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231206ENST00000267101+128644_66427.3333333333333321343.0TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231206ENST00000411731+13644_66427.333333333333332184.0TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231206ENST00000415288+129644_66401284.0TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231206ENST00000450146+115644_6640700.0TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128644_66427.3333333333333321343.0TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13644_66427.333333333333332184.0TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129644_66401284.0TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115644_6640700.0TransmembraneHelical
TgeneCOX4I2chr12:56474166chr20:30231206ENST000003760752529_10082.33333333333333172.0Topological domainMitochondrial matrix
TgeneCOX4I2chr12:56474166chr20:30231207ENST000003760752529_10082.33333333333333172.0Topological domainMitochondrial matrix


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ERBB3
COX4I2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ERBB3-COX4I2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ERBB3-COX4I2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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