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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: 21363

FusionGeneSummary for MDK_ERBB3

check button Fusion gene summary
Fusion gene informationFusion gene name: MDK_ERBB3
Fusion gene ID: 21363
HgeneTgene
Gene symbol

MDK

ERBB3

Gene ID

4192

2065

Gene namemidkineerb-b2 receptor tyrosine kinase 3
SynonymsARAP|MK|NEGF2ErbB-3|HER3|LCCS2|MDA-BF-1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3
Cytomap

11p11.2

12q13.2

Type of geneprotein-codingprotein-coding
Descriptionmidkineamphiregulin-associated proteinmidgestation and kidney proteinneurite growth-promoting factor 2neurite outgrowth-promoting factor 2retinoic acid inducible factorreceptor 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 3
Modification date2018052320180527
UniProtAcc

P21741

P21860

Ensembl transtripts involved in fusion geneENST00000405308, ENST00000359803, 
ENST00000395569, ENST00000395566, 
ENST00000533283, ENST00000407067, 
ENST00000395565, 
ENST00000267101, 
ENST00000450146, ENST00000415288, 
ENST00000553131, ENST00000411731, 
ENST00000549832, 
Fusion gene scores* DoF score5 X 3 X 4=6025 X 8 X 14=2800
# samples 525
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(25/2800*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MDK [Title/Abstract] AND ERBB3 [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
TgeneERBB3

GO:0007162

negative regulation of cell adhesion

7556068

TgeneERBB3

GO:0007165

signal transduction

10572067

TgeneERBB3

GO:0009968

negative regulation of signal transduction

11389077

TgeneERBB3

GO:0014065

phosphatidylinositol 3-kinase signaling

7556068

TgeneERBB3

GO:0042127

regulation of cell proliferation

11389077

TgeneERBB3

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
TCGARVLUSCTCGA-43-5668-01AMDKchr11

46405349

+ERBB3chr12

56492035

+
* 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
5CDS-intronENST00000405308ENST00000267101MDKchr11

46405349

+ERBB3chr12

56492035

+
5CDS-intronENST00000405308ENST00000450146MDKchr11

46405349

+ERBB3chr12

56492035

+
5CDS-intronENST00000405308ENST00000415288MDKchr11

46405349

+ERBB3chr12

56492035

+
5CDS-intronENST00000405308ENST00000553131MDKchr11

46405349

+ERBB3chr12

56492035

+
5CDS-intronENST00000405308ENST00000411731MDKchr11

46405349

+ERBB3chr12

56492035

+
5CDS-intronENST00000405308ENST00000549832MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000359803ENST00000267101MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000359803ENST00000450146MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000359803ENST00000415288MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000359803ENST00000553131MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000359803ENST00000411731MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000359803ENST00000549832MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395569ENST00000267101MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395569ENST00000450146MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395569ENST00000415288MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395569ENST00000553131MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395569ENST00000411731MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395569ENST00000549832MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395566ENST00000267101MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395566ENST00000450146MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395566ENST00000415288MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395566ENST00000553131MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395566ENST00000411731MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395566ENST00000549832MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000533283ENST00000267101MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000533283ENST00000450146MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000533283ENST00000415288MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000533283ENST00000553131MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000533283ENST00000411731MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000533283ENST00000549832MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000407067ENST00000267101MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000407067ENST00000450146MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000407067ENST00000415288MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000407067ENST00000553131MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000407067ENST00000411731MDKchr11

46405349

+ERBB3chr12

56492035

+
intron-intronENST00000407067ENST00000549832MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395565ENST00000267101MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395565ENST00000450146MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395565ENST00000415288MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395565ENST00000553131MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395565ENST00000411731MDKchr11

46405349

+ERBB3chr12

56492035

+
3UTR-intronENST00000395565ENST00000549832MDKchr11

46405349

+ERBB3chr12

56492035

+

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FusionProtFeatures for MDK_ERBB3


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

P21741

ERBB3

P21860

Developmentally regulated, secreted growth factorhomologous to pleiotrophin (PTN), which has heparin bindingactivity. Binds anaplastic lymphoma kinase (ALK) which induces ALKactivation and subsequent phosphorylation of the insulin receptorsubstrate (IRS1), followed by the activation of mitogen-activatedprotein kinase (MAPK) and PI3-kinase, and the induction of cellproliferation. Involved in neointima formation after arterialinjury, possibly by mediating leukocyte recruitment. Also involvedin early fetal adrenal gland development (By similarity).{ECO:0000250, ECO:0000269|PubMed:12122009,ECO:0000269|PubMed:1768439}. 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}.

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 MDK_ERBB3


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 MDK_ERBB3


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
MDKRPL18A, NCAM1, NID1, NID2, ACTG1, TUBA1A, TUBB2B, LRP1, NCL, PTPRZ1, MAPK6, UBQLN4, SRPK2, SETD1A, CXXC1, TNRC18, NAF1, HIST1H1A, AFF4, UBTF, MLLT3, SRRM2, CHD9, BOD1L1, CWC22, RPS27A, NOS1AP, CLK2, RPP25, PNN, BRD2, KBTBD7, SORL1, ZCCHC17, PPIG, RPL36AL, PTPN9, NKAP, EPB41L5, SIN3A, UBE2OERBB3GRB2, 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, HGS


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 MDK_ERBB3


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 MDK_ERBB3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMDKC0003469Anxiety Disorders1CTD_human
HgeneMDKC0011881Diabetic Nephropathy1CTD_human
HgeneMDKC0017638Glioma1CTD_human
HgeneMDKC0025261Memory Disorders1CTD_human
HgeneMDKC0036341Schizophrenia1PSYGENET
HgeneMDKC0345967Malignant mesothelioma1CTD_human
TgeneERBB3C0036341Schizophrenia3PSYGENET
TgeneERBB3C0005586Bipolar Disorder1PSYGENET
TgeneERBB3C0011570Mental Depression1PSYGENET
TgeneERBB3C0016978gallbladder neoplasm1CTD_human
TgeneERBB3C0024121Lung Neoplasms1CTD_human
TgeneERBB3C0033578Prostatic Neoplasms1CTD_human
TgeneERBB3C0041696Unipolar Depression1PSYGENET
TgeneERBB3C1269683Major Depressive Disorder1PSYGENET
TgeneERBB3C1458155Mammary Neoplasms1CTD_human
TgeneERBB3C2931822Nasopharyngeal carcinoma1CTD_human