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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: 11791

FusionGeneSummary for EPCAM_HERC3

check button Fusion gene summary
Fusion gene informationFusion gene name: EPCAM_HERC3
Fusion gene ID: 11791
HgeneTgene
Gene symbol

EPCAM

HERC3

Gene ID

4072

8916

Gene nameepithelial cell adhesion moleculeHECT and RLD domain containing E3 ubiquitin protein ligase 3
SynonymsDIAR5|EGP-2|EGP314|EGP40|ESA|HNPCC8|KS1/4|KSA|M4S1|MIC18|MK-1|TACSTD1|TROP1-
Cytomap

2p21

4q22.1

Type of geneprotein-codingprotein-coding
Descriptionepithelial cell adhesion moleculeadenocarcinoma-associated antigencell surface glycoprotein Trop-1epithelial glycoprotein 314human epithelial glycoprotein-2major gastrointestinal tumor-associated protein GA733-2membrane component, chromosome 4, surfprobable E3 ubiquitin-protein ligase HERC3HECT domain and RCC1-like domain-containing protein 3HECT-type E3 ubiquitin transferase HERC3hect domain and RLD 3
Modification date2018052320180522
UniProtAcc

P16422

Q15034

Ensembl transtripts involved in fusion geneENST00000405271, ENST00000263735, 
ENST00000402738, ENST00000407637, 
ENST00000601319, ENST00000264345, 
ENST00000543130, 
Fusion gene scores* DoF score5 X 5 X 2=502 X 2 X 1=4
# samples 52
** MAII scorelog2(5/50*10)=0log2(2/4*10)=2.32192809488736
Context

PubMed: EPCAM [Title/Abstract] AND HERC3 [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
HgeneEPCAM

GO:0008284

positive regulation of cell proliferation

15195135

HgeneEPCAM

GO:0045944

positive regulation of transcription by RNA polymerase II

15195135|15922867

HgeneEPCAM

GO:2000048

negative regulation of cell-cell adhesion mediated by cadherin

9382878


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
ChiTaRS3.1BE177710EPCAMchr2

47602378

-HERC3chr4

89573446

-
* 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
intron-intronENST00000405271ENST00000402738EPCAMchr2

47602378

-HERC3chr4

89573446

-
intron-intronENST00000405271ENST00000407637EPCAMchr2

47602378

-HERC3chr4

89573446

-
intron-intronENST00000405271ENST00000601319EPCAMchr2

47602378

-HERC3chr4

89573446

-
intron-intronENST00000405271ENST00000264345EPCAMchr2

47602378

-HERC3chr4

89573446

-
intron-intronENST00000405271ENST00000543130EPCAMchr2

47602378

-HERC3chr4

89573446

-
intron-intronENST00000263735ENST00000402738EPCAMchr2

47602378

-HERC3chr4

89573446

-
intron-intronENST00000263735ENST00000407637EPCAMchr2

47602378

-HERC3chr4

89573446

-
intron-intronENST00000263735ENST00000601319EPCAMchr2

47602378

-HERC3chr4

89573446

-
intron-intronENST00000263735ENST00000264345EPCAMchr2

47602378

-HERC3chr4

89573446

-
intron-intronENST00000263735ENST00000543130EPCAMchr2

47602378

-HERC3chr4

89573446

-

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FusionProtFeatures for EPCAM_HERC3


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

P16422

HERC3

Q15034

May act as a physical homophilic interaction moleculebetween intestinal epithelial cells (IECs) and intraepitheliallymphocytes (IELs) at the mucosal epithelium for providingimmunological barrier as a first line of defense against mucosalinfection. Plays a role in embryonic stem cells proliferation anddifferentiation. Up-regulates the expression of FABP5, MYC andcyclins A and E. {ECO:0000269|PubMed:15195135,ECO:0000269|PubMed:15922867, ECO:0000269|PubMed:19785009,ECO:0000269|PubMed:20064925}. E3 ubiquitin-protein ligase which accepts ubiquitin froman E2 ubiquitin-conjugating enzyme in the form of a thioester andthen directly transfers the ubiquitin to targeted substrates.{ECO:0000250}.

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 EPCAM_HERC3


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 EPCAM_HERC3


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


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 EPCAM_HERC3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneEPCAMP16422DB11075HypromelloseEpithelial cell adhesion moleculesmall moleculeapproved
HgeneEPCAMP16422DB06607CatumaxomabEpithelial cell adhesion moleculebiotechapproved|investigational|withdrawn

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RelatedDiseases for EPCAM_HERC3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPCAMC0009405Hereditary Nonpolyposis Colorectal Neoplasms1CTD_human
HgeneEPCAMC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneEPCAMC0024667Animal Mammary Neoplasms1CTD_human
HgeneEPCAMC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneEPCAMC0030297Pancreatic Neoplasm1CTD_human
HgeneEPCAMC0033578Prostatic Neoplasms1CTD_human
HgeneEPCAMC0919267ovarian neoplasm1CTD_human
HgeneEPCAMC2750737DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL1CTD_human;ORPHANET;UNIPROT
HgeneEPCAMC2931459Lynch syndrome I (site-specific colonic cancer)1CTD_human
TgeneHERC3C0023903Liver neoplasms1CTD_human