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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: 11935

FusionGeneSummary for ERBB3_IKZF4

check button Fusion gene summary
Fusion gene informationFusion gene name: ERBB3_IKZF4
Fusion gene ID: 11935
HgeneTgene
Gene symbol

ERBB3

IKZF4

Gene ID

2065

64375

Gene nameerb-b2 receptor tyrosine kinase 3IKAROS family zinc finger 4
SynonymsErbB-3|HER3|LCCS2|MDA-BF-1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3EOS|ZNFN1A4
Cytomap

12q13.2

12q13.2

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 3zinc finger protein Eosikaros family zinc finger protein 4zinc finger protein, subfamily 1A, 4 (Eos)zinc finger transcription factor Eos
Modification date2018052720180523
UniProtAcc

P21860

Q9H2S9

Ensembl transtripts involved in fusion geneENST00000267101, ENST00000450146, 
ENST00000415288, ENST00000553131, 
ENST00000411731, ENST00000549832, 
ENST00000262032, ENST00000548601, 
ENST00000431367, ENST00000547167, 
ENST00000547791, 
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 IKZF4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TCGALDSTADTCGA-VQ-AA6D-01AERBB3chr12

56493531

+IKZF4chr12

56421668

+
* 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
Frame-shitENST00000267101ENST00000262032ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000267101ENST00000548601ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000267101ENST00000431367ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000267101ENST00000547167ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000267101ENST00000547791ERBB3chr12

56493531

+IKZF4chr12

56421668

+
Frame-shitENST00000450146ENST00000262032ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000450146ENST00000548601ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000450146ENST00000431367ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000450146ENST00000547167ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000450146ENST00000547791ERBB3chr12

56493531

+IKZF4chr12

56421668

+
Frame-shitENST00000415288ENST00000262032ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000415288ENST00000548601ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000415288ENST00000431367ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000415288ENST00000547167ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000415288ENST00000547791ERBB3chr12

56493531

+IKZF4chr12

56421668

+
Frame-shitENST00000553131ENST00000262032ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000553131ENST00000548601ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000553131ENST00000431367ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000553131ENST00000547167ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000553131ENST00000547791ERBB3chr12

56493531

+IKZF4chr12

56421668

+
intron-3CDSENST00000411731ENST00000262032ERBB3chr12

56493531

+IKZF4chr12

56421668

+
intron-3UTRENST00000411731ENST00000548601ERBB3chr12

56493531

+IKZF4chr12

56421668

+
intron-3UTRENST00000411731ENST00000431367ERBB3chr12

56493531

+IKZF4chr12

56421668

+
intron-3UTRENST00000411731ENST00000547167ERBB3chr12

56493531

+IKZF4chr12

56421668

+
intron-3UTRENST00000411731ENST00000547791ERBB3chr12

56493531

+IKZF4chr12

56421668

+
Frame-shitENST00000549832ENST00000262032ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000549832ENST00000548601ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000549832ENST00000431367ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000549832ENST00000547167ERBB3chr12

56493531

+IKZF4chr12

56421668

+
5CDS-3UTRENST00000549832ENST00000547791ERBB3chr12

56493531

+IKZF4chr12

56421668

+

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FusionProtFeatures for ERBB3_IKZF4


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

P21860

IKZF4

Q9H2S9

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}. DNA-binding protein that binds to the 5'GGGAATRCC-3'Ikaros-binding sequence. Transcriptional repressor. Interacts withSPI1 and MITF to repress transcription of the CTSK and ACP5promoters via recruitment of corepressors SIN3A and CTBP2. May beinvolved in the development of central and peripheral nervoussystems. Essential for the inhibitory function of regulatory T-cells (Treg). Mediates FOXP3-mediated gene silencing in regulatoryT-cells (Treg) via recruitment of corepressor CTBP1 (Bysimilarity). {ECO:0000250|UniProtKB:Q8C208,ECO:0000269|PubMed:10978333, ECO:0000269|PubMed:12015313,ECO:0000269|PubMed:12444977}.

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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FusionGeneSequence for ERBB3_IKZF4


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ERBB3_IKZF4


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, HGSIKZF4SIN3A, SIN3B, CHD4, HDAC2, HDAC4, HDAC5, HDAC7, IKZF1, IKZF4, CTBP1, IKZF5, IKZF3, FOXP3, FHL2, NFKBIA


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_IKZF4


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_IKZF4


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
TgeneIKZF4C0002171Alopecia Areata1CTD_human
TgeneIKZF4C0042900Vitiligo1CTD_human