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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: 26297

FusionGeneSummary for PCSK1_EPCAM

check button Fusion gene summary
Fusion gene informationFusion gene name: PCSK1_EPCAM
Fusion gene ID: 26297
HgeneTgene
Gene symbol

PCSK1

EPCAM

Gene ID

5122

4072

Gene nameproprotein convertase subtilisin/kexin type 1epithelial cell adhesion molecule
SynonymsBMIQ12|NEC1|PC1|PC3|SPC3DIAR5|EGP-2|EGP314|EGP40|ESA|HNPCC8|KS1/4|KSA|M4S1|MIC18|MK-1|TACSTD1|TROP1
Cytomap

5q15

2p21

Type of geneprotein-codingprotein-coding
Descriptionneuroendocrine convertase 1prohormone convertase 1prohormone convertase 3epithelial cell adhesion moleculeadenocarcinoma-associated antigencell surface glycoprotein Trop-1epithelial glycoprotein 314human epithelial glycoprotein-2major gastrointestinal tumor-associated protein GA733-2membrane component, chromosome 4, surf
Modification date2018051920180523
UniProtAcc

P29120

P16422

Ensembl transtripts involved in fusion geneENST00000311106, ENST00000513085, 
ENST00000508626, 
ENST00000405271, 
ENST00000263735, 
Fusion gene scores* DoF score2 X 2 X 1=44 X 5 X 4=80
# samples 26
** MAII scorelog2(2/4*10)=2.32192809488736log2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PCSK1 [Title/Abstract] AND EPCAM [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
TgeneEPCAM

GO:0008284

positive regulation of cell proliferation

15195135

TgeneEPCAM

GO:0045944

positive regulation of transcription by RNA polymerase II

15195135|15922867

TgeneEPCAM

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
ChiTaRS3.1CV313519PCSK1chr5

95751490

+EPCAMchr2

47606120

+
* 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-3CDSENST00000311106ENST00000405271PCSK1chr5

95751490

+EPCAMchr2

47606120

+
intron-3CDSENST00000311106ENST00000263735PCSK1chr5

95751490

+EPCAMchr2

47606120

+
intron-3CDSENST00000513085ENST00000405271PCSK1chr5

95751490

+EPCAMchr2

47606120

+
intron-3CDSENST00000513085ENST00000263735PCSK1chr5

95751490

+EPCAMchr2

47606120

+
intron-3CDSENST00000508626ENST00000405271PCSK1chr5

95751490

+EPCAMchr2

47606120

+
intron-3CDSENST00000508626ENST00000263735PCSK1chr5

95751490

+EPCAMchr2

47606120

+

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FusionProtFeatures for PCSK1_EPCAM


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PCSK1

P29120

EPCAM

P16422

Involved in the processing of hormone and other proteinprecursors at sites comprised of pairs of basic amino acidresidues. Substrates include POMC, renin, enkephalin, dynorphin,somatostatin, insulin and AGRP. {ECO:0000250|UniProtKB:P63239}. 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}.

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 PCSK1_EPCAM


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 PCSK1_EPCAM


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 PCSK1_EPCAM


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePCSK1P29120DB00071Insulin PorkNeuroendocrine convertase 1biotechapproved
HgenePCSK1P29120DB00030Insulin HumanNeuroendocrine convertase 1biotechapproved|investigational
TgeneEPCAMP16422DB11075HypromelloseEpithelial cell adhesion moleculesmall moleculeapproved
TgeneEPCAMP16422DB06607CatumaxomabEpithelial cell adhesion moleculebiotechapproved|investigational|withdrawn

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RelatedDiseases for PCSK1_EPCAM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePCSK1C1833053Proprotein Convertase 1 3 Deficiency2CTD_human;ORPHANET;UNIPROT
HgenePCSK1C0005910Body Weight1CTD_human
HgenePCSK1C0028754Obesity1CTD_human;HPO
TgeneEPCAMC0009405Hereditary Nonpolyposis Colorectal Neoplasms1CTD_human
TgeneEPCAMC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneEPCAMC0024667Animal Mammary Neoplasms1CTD_human
TgeneEPCAMC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneEPCAMC0030297Pancreatic Neoplasm1CTD_human
TgeneEPCAMC0033578Prostatic Neoplasms1CTD_human
TgeneEPCAMC0919267ovarian neoplasm1CTD_human
TgeneEPCAMC2750737DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL1CTD_human;ORPHANET;UNIPROT
TgeneEPCAMC2931459Lynch syndrome I (site-specific colonic cancer)1CTD_human