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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: 7936

FusionGeneSummary for COL3A1_ERBB3

check button Fusion gene summary
Fusion gene informationFusion gene name: COL3A1_ERBB3
Fusion gene ID: 7936
HgeneTgene
Gene symbol

COL3A1

ERBB3

Gene ID

1281

2065

Gene namecollagen type III alpha 1 chainerb-b2 receptor tyrosine kinase 3
SynonymsEDS4A|EDSVASCErbB-3|HER3|LCCS2|MDA-BF-1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3
Cytomap

2q32.2

12q13.2

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1receptor 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

P02461

P21860

Ensembl transtripts involved in fusion geneENST00000304636, ENST00000317840, 
ENST00000267101, ENST00000450146, 
ENST00000415288, ENST00000553131, 
ENST00000411731, ENST00000549832, 
Fusion gene scores* DoF score24 X 18 X 11=475225 X 8 X 14=2800
# samples 2925
** MAII scorelog2(29/4752*10)=-4.03441003078583
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: COL3A1 [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
HgeneCOL3A1

GO:0007160

cell-matrix adhesion

16912226

HgeneCOL3A1

GO:0007179

transforming growth factor beta receptor signaling pathway

16360482

HgeneCOL3A1

GO:0009314

response to radiation

14736764

HgeneCOL3A1

GO:0018149

peptide cross-linking

16754721

HgeneCOL3A1

GO:0034097

response to cytokine

9076960|16360482

HgeneCOL3A1

GO:0042060

wound healing

1466622

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
TCGARVPAADTCGA-IB-7654-01ACOL3A1chr2

189877472

+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-intronENST00000304636ENST00000267101COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000304636ENST00000450146COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000304636ENST00000415288COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000304636ENST00000553131COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000304636ENST00000411731COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000304636ENST00000549832COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000317840ENST00000267101COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000317840ENST00000450146COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000317840ENST00000415288COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000317840ENST00000553131COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000317840ENST00000411731COL3A1chr2

189877472

+ERBB3chr12

56492035

+
5CDS-intronENST00000317840ENST00000549832COL3A1chr2

189877472

+ERBB3chr12

56492035

+

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FusionProtFeatures for COL3A1_ERBB3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL3A1

P02461

ERBB3

P21860

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 COL3A1_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 COL3A1_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
COL3A1SPARC, THBS1, MAG, SP1, CAND1, MYOC, PDGFA, PDGFB, ERAL1ERBB3GRB2, 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 COL3A1_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
HgeneCOL3A1P02461DB00048Collagenase clostridium histolyticumCollagen alpha-1(III) chainbiotechapproved|investigational

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RelatedDiseases for COL3A1_ERBB3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL3A1C0268338Ehlers-Danlos Syndrome, Type IV23ORPHANET;UNIPROT
HgeneCOL3A1C0023890Liver Cirrhosis5CTD_human
HgeneCOL3A1C0023893Liver Cirrhosis, Experimental2CTD_human
HgeneCOL3A1C1853365AORTIC ANEURYSM, FAMILIAL ABDOMINAL 12ORPHANET;UNIPROT
HgeneCOL3A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL3A1C0015695Fatty Liver1CTD_human
HgeneCOL3A1C0016059Fibrosis1CTD_human
HgeneCOL3A1C0020443Hypercholesterolemia1CTD_human
HgeneCOL3A1C0020456Hyperglycemia1CTD_human
HgeneCOL3A1C0020459Hyperinsulinism1CTD_human
HgeneCOL3A1C0020538Hypertensive disease1CTD_human
HgeneCOL3A1C0022548Keloid1CTD_human
HgeneCOL3A1C0023891Liver Cirrhosis, Alcoholic1CTD_human
HgeneCOL3A1C0023895Liver diseases1CTD_human
HgeneCOL3A1C0034069Pulmonary Fibrosis1CTD_human
HgeneCOL3A1C0036341Schizophrenia1CTD_human
HgeneCOL3A1C0041956Ureteral obstruction1CTD_human
HgeneCOL3A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL3A1C0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
HgeneCOL3A1C0268337Ehlers-Danlos syndrome, type 3 (disorder)1CTD_human;UNIPROT
HgeneCOL3A1C0553980Endomyocardial Fibrosis1CTD_human
HgeneCOL3A1C4277682Chemical and Drug Induced Liver Injury1CTD_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