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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11928

FusionGeneSummary for ERBB3_COX4I2

check button Fusion gene summary
Fusion gene informationFusion gene name: ERBB3_COX4I2
Fusion gene ID: 11928
HgeneTgene
Gene symbol

ERBB3

COX4I2

Gene ID

2065

84701

Gene nameerb-b2 receptor tyrosine kinase 3cytochrome c oxidase subunit 4I2
SynonymsErbB-3|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 date2018052720180523
UniProtAcc

P21860

Q96KJ9

Ensembl transtripts involved in fusion geneENST00000267101, ENST00000450146, 
ENST00000415288, ENST00000553131, 
ENST00000411731, ENST00000549832, 
ENST00000376075, ENST00000490030, 
Fusion gene scores* DoF score16 X 15 X 9=21602 X 2 X 2=8
# samples 162
** MAII scorelog2(16/2160*10)=-3.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

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

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVUCECTCGA-AJ-A3I9-01AERBB3chr12

56474166

+COX4I2chr20

30231207

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000267101ENST00000376075ERBB3chr12

56474166

+COX4I2chr20

30231207

+
5CDS-intronENST00000267101ENST00000490030ERBB3chr12

56474166

+COX4I2chr20

30231207

+
intron-3CDSENST00000450146ENST00000376075ERBB3chr12

56474166

+COX4I2chr20

30231207

+
intron-intronENST00000450146ENST00000490030ERBB3chr12

56474166

+COX4I2chr20

30231207

+
intron-3CDSENST00000415288ENST00000376075ERBB3chr12

56474166

+COX4I2chr20

30231207

+
intron-intronENST00000415288ENST00000490030ERBB3chr12

56474166

+COX4I2chr20

30231207

+
intron-3CDSENST00000553131ENST00000376075ERBB3chr12

56474166

+COX4I2chr20

30231207

+
intron-intronENST00000553131ENST00000490030ERBB3chr12

56474166

+COX4I2chr20

30231207

+
In-frameENST00000411731ENST00000376075ERBB3chr12

56474166

+COX4I2chr20

30231207

+
5CDS-intronENST00000411731ENST00000490030ERBB3chr12

56474166

+COX4I2chr20

30231207

+
intron-3CDSENST00000549832ENST00000376075ERBB3chr12

56474166

+COX4I2chr20

30231207

+
intron-intronENST00000549832ENST00000490030ERBB3chr12

56474166

+COX4I2chr20

30231207

+

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FusionProtFeatures for ERBB3_COX4I2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ERBB3

P21860

COX4I2

Q96KJ9

Tyrosine-protein kinase that plays an essential role ascell surface receptor for neuregulins. Binds to neuregulin-1(NRG1) and is activated by it; ligand-binding increasesphosphorylation on tyrosine residues and promotes its associationwith the p85 subunit of phosphatidylinositol 3-kinase(PubMed:20682778). May also be activated by CSPG5(PubMed:15358134). {ECO:0000269|PubMed:15358134,ECO:0000269|PubMed:20682778}. This protein is one of the nuclear-coded polypeptidechains of cytochrome c oxidase, the terminal oxidase inmitochondrial electron transport.

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
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128709_966271343DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13709_96627184DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129709_966-741284DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115709_966-102700DomainProtein kinase
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128715_723271343Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128788_790271343Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128834_839271343Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13715_72327184Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13788_79027184Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13834_83927184Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129715_723-741284Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129788_790-741284Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129834_839-741284Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115715_723-102700Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115788_790-102700Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115834_839-102700Nucleotide bindingNote=ATP
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+12820_643271343Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128665_1342271343Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+1320_64327184Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13665_134227184Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+12920_643-741284Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129665_1342-741284Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+11520_643-102700Topological domainExtracellular
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115665_1342-102700Topological domainCytoplasmic
HgeneERBB3chr12:56474166chr20:30231207ENST00000267101+128644_664271343TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231207ENST00000411731+13644_66427184TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231207ENST00000415288+129644_664-741284TransmembraneHelical
HgeneERBB3chr12:56474166chr20:30231207ENST00000450146+115644_664-102700TransmembraneHelical


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FusionGeneSequence for ERBB3_COX4I2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_ERBB3_ENST00000267101_chr12_56474166_+_COX4I2_ENST00000376075_chr20_30231207_+_117aa
MRANDALQVLGLLFSLARGSEVGNSQAVYRLQFNETFAEMNRRSNEWKTVMGCVFFFIGFAALVIWWQRVYVFPPKPITLTDERKAQQLQ

>In-frame_ERBB3_ENST00000411731_chr12_56474166_+_COX4I2_ENST00000376075_chr20_30231207_+_117aa
MRANDALQVLGLLFSLARGSEVGNSQAVYRLQFNETFAEMNRRSNEWKTVMGCVFFFIGFAALVIWWQRVYVFPPKPITLTDERKAQQLQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ERBB3_ENST00000267101_chr12_56474166_+_COX4I2_ENST00000376075_chr20_30231207_+_351nt
ATGAGGGCGAACGACGCTCTGCAGGTGCTGGGCTTGCTTTTCAGCCTGGCCCGGGGCTCCGAGGTGGGCAACTCTCAGGCAGTGTACCGG
CTCCAGTTCAATGAGACCTTTGCGGAGATGAACCGTCGCTCCAATGAGTGGAAGACAGTGATGGGTTGTGTCTTCTTCTTCATTGGATTC
GCAGCTCTGGTGATTTGGTGGCAGCGGGTCTACGTATTTCCTCCAAAGCCGATCACCTTGACGGACGAGCGGAAAGCCCAGCAGCTGCAG

>In-frame_ERBB3_ENST00000411731_chr12_56474166_+_COX4I2_ENST00000376075_chr20_30231207_+_351nt
ATGAGGGCGAACGACGCTCTGCAGGTGCTGGGCTTGCTTTTCAGCCTGGCCCGGGGCTCCGAGGTGGGCAACTCTCAGGCAGTGTACCGG
CTCCAGTTCAATGAGACCTTTGCGGAGATGAACCGTCGCTCCAATGAGTGGAAGACAGTGATGGGTTGTGTCTTCTTCTTCATTGGATTC
GCAGCTCTGGTGATTTGGTGGCAGCGGGTCTACGTATTTCCTCCAAAGCCGATCACCTTGACGGACGAGCGGAAAGCCCAGCAGCTGCAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ERBB3_ENST00000267101_chr12_56474166_+_COX4I2_ENST00000376075_chr20_30231207_+_893nt
ATTACCCTTCCCTGGATCTGGGGGCTTTCGGAATCTCGACCTCCCCTTGGCCTATCTCCTGCAGAAAAATTAGGGTGAGCCCCATCCTCG
ATCTGCTCCGCCAAGTTGCGGGACCGCGGGGCGTGGCACGCTCGGGGCAGGCGGTCCGAGGCTCCGCAATCCCTACTCCAGCCTCGCGCG
GGAGGGGGCGCGGCCGTGACTCACCCCCTTCCCTCTGCGTTCCTCCCTCCCTCTCTCTCTCTCTCTCACACACACACACCCCTCCCCTGC
CATCCCTCCCCGGACTCCGGCTCCGGCTCCGATTGCAATTTGCAACCTCCGCTGCCGTCGCCGCAGCAGCCACCAATTCGCCAGCGGTTC
AGGTGGCTCTTGCCTCGATGTCCTAGCCTAGGGGCCCCCGGGCCGGACTTGGCTGGGCTCCCTTCACCCTCTGCGGAGTCATGAGGGCGA
ACGACGCTCTGCAGGTGCTGGGCTTGCTTTTCAGCCTGGCCCGGGGCTCCGAGGTGGGCAACTCTCAGGCAGTGTACCGGCTCCAGTTCA
ATGAGACCTTTGCGGAGATGAACCGTCGCTCCAATGAGTGGAAGACAGTGATGGGTTGTGTCTTCTTCTTCATTGGATTCGCAGCTCTGG
TGATTTGGTGGCAGCGGGTCTACGTATTTCCTCCAAAGCCGATCACCTTGACGGACGAGCGGAAAGCCCAGCAGCTGCAGCGCATGCTGG
ACATGAAGGTGAATCCTGTGCAGGGCCTGGCCTCCCGCTGGGACTATGAGAAGAAGCAGTGGAAGAAGTGACTTGCATCCCCAGCTGTCT

>In-frame_ERBB3_ENST00000411731_chr12_56474166_+_COX4I2_ENST00000376075_chr20_30231207_+_617nt
TCCCCGGACTCCGGCTCCGGCTCCGATTGCAATTTGCAACCTCCGCTGCCGTCGCCGCAGCAGCCACCAATTCGCCAGCGGTTCAGGTGG
CTCTTGCCTCGATGTCCTAGCCTAGGGGCCCCCGGGCCGGACTTGGCTGGGCTCCCTTCACCCTCTGCGGAGTCATGAGGGCGAACGACG
CTCTGCAGGTGCTGGGCTTGCTTTTCAGCCTGGCCCGGGGCTCCGAGGTGGGCAACTCTCAGGCAGTGTACCGGCTCCAGTTCAATGAGA
CCTTTGCGGAGATGAACCGTCGCTCCAATGAGTGGAAGACAGTGATGGGTTGTGTCTTCTTCTTCATTGGATTCGCAGCTCTGGTGATTT
GGTGGCAGCGGGTCTACGTATTTCCTCCAAAGCCGATCACCTTGACGGACGAGCGGAAAGCCCAGCAGCTGCAGCGCATGCTGGACATGA
AGGTGAATCCTGTGCAGGGCCTGGCCTCCCGCTGGGACTATGAGAAGAAGCAGTGGAAGAAGTGACTTGCATCCCCAGCTGTCTCCCTGA


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FusionGenePPI for ERBB3_COX4I2


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
ERBB3GRB2, PIK3R2, CSK, SHC1, CD82, RGS4, ODF2L, GRB7, PA2G4, EGF, RNF41, NRG1, PIK3R1, IL6ST, PTK6, EGFR, MUC1, NRG2, ERBB2, RPN1, EGR1, ZNF207, HDAC6, LRIG1, MDM2, AKT1, PTPN11, HSP90AA1, NCK2, JAK2, SH2D1A, DAB1, ABL1, HCK, FGFR1, SRC, NCK1, FER, PLCG1, RASA1, TXK, ABL2, ZAP70, SYK, CRK, CRKL, JAK3, VAV2, CHN2, ITK, RIN1, BCAR3, TENC1, TNS3, TNS4, SHC3, PIK3R3, VAV1, VAV3, DAPP1, SH2B3, NEDD4, HLA-DPA1, UQCR10, B3GALTL, PDF, TUBA4A, TUBB8, HLA-A, YBEY, SLC31A1, EIF1AX, SRPK2, HLA-B, SLC25A5, SLC25A6, AIFM1, ANXA2, AP1M2, ATP5A1, B2M, C1QBP, CANX, CDC37, DNAJB11, DNAJA1, TUFM, ERBB3, GFAP, HSPA5, HNRNPH1, HNRNPH2, HNRNPF, HSP90AB1, HSPA8, LGALS3BP, MASP1, PHLDA1, PIK3CA, PIK3CB, PTCD3, RAE1, RPL23, RPS27, RPS27A, RPS27L, MRPS14, MRPS17, MRPS23, MRPS27, MRPS28, S100A10, SSR1, TUBB, ACTA2, ACTB, ACTBL2, POTEKP, ACTC1, ACTG1, ACTG2, ACTA1, HBA1, HBB, HBD, HBE1, HBG1, HBG2, HNRNPH3, HSPA1A, LRPPRC, PON2, POTEE, POTEF, HNRNPA2B1, HNRNPAB, MRPS18B, MRPS22, MRPS25, MRPS26, MRPS34, TUBA1B, PCGF1, DPPA4, NANOG, POU5F1, EPN1, L1CAM, MET, NEDD4L, PTK2B, NDRG1, CDH1, PTPRH, UQCRH, PPM1A, PPM1B, PPM1F, PPM1K, PPM1M, ILKAP, PTPRR, PTPN6, PTPN7, PTPN12, PTPN20B, DUSP14, DUSP18, DUSP19, DUSP21, DUPD1, STYX, PTPDC1, PTEN, TPTE, MTMR1, MTMR2, MTMR6, MTMR8, MTMR9, MTMR10, CDC25C, EYA4, CSPG5, HGSCOX4I2CYCS, APP, KRAS, COA3


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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RelatedDrugs for ERBB3_COX4I2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ERBB3_COX4I2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERBB3C0036341Schizophrenia3PSYGENET
HgeneERBB3C0005586Bipolar Disorder1PSYGENET
HgeneERBB3C0011570Mental Depression1PSYGENET
HgeneERBB3C0016978gallbladder neoplasm1CTD_human
HgeneERBB3C0024121Lung Neoplasms1CTD_human
HgeneERBB3C0033578Prostatic Neoplasms1CTD_human
HgeneERBB3C0041696Unipolar Depression1PSYGENET
HgeneERBB3C1269683Major Depressive Disorder1PSYGENET
HgeneERBB3C1458155Mammary Neoplasms1CTD_human
HgeneERBB3C2931822Nasopharyngeal carcinoma1CTD_human
TgeneCOX4I2C2675184Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis1CTD_human;ORPHANET;UNIPROT